| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Lactate Dehydrogenase B Deficiency |
|
Reduced lactate dehydrogenase B level |
OMIM:614128 |
| Hydroxyacyl Glutathione Hydrolase Deficiency |
|
Glyoxalase deficiency |
OMIM:614033 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy |
ORPHA:3283 |
| Deoxyribose-5-Phosphate Aldolase Deficiency |
|
Abnormal circulating enzyme concentration or activity |
OMIM:125460 |
| Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
| Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
| Atrial Fibrillation, Familial, 15 |
|
Sudden cardiac death, Supraventricular tachycardia, Left atrial enlargement, Atrial flutter, Atri... |
OMIM:615770 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
| Atrial Standstill 1 |
|
Endocardial fibroelastosis, Atrial standstill, Premature atrial contractions, Atrial cardiomyopat... |
OMIM:108770 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Sudden cardiac death, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruct... |
OMIM:619402 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Hyperuricemia, Stage 5 chronic kidney diseas... |
OMIM:174000 |
| Atrial Fibrillation, Familial, 6 |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Elevated left ventricul... |
OMIM:612201 |
| Nephronophthisis 7 |
|
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease |
OMIM:611498 |
| Uridine-Cytidineuria |
|
Elevated urinary cytidine, Elevated urinary uridine level |
OMIM:618477 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype... |
OMIM:613690 |
| Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... |
OMIM:614672 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... |
OMIM:612124 |
| Atrial Fibrillation, Familial, 3 |
|
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... |
OMIM:607554 |
| Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Multiple small medullary renal cysts, Hyperu... |
OMIM:603860 |
| Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Hypertension, Mesang... |
OMIM:616818 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:601894 |
| Atrial Fibrillation, Familial, 4 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... |
OMIM:611493 |
| Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Focal Segmental Glomerulosclerosis 5 |
|
Stage 5 chronic kidney disease, Hypertension, Proteinuria, Focal segmental glomerulosclerosis, Mi... |
OMIM:613237 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Hypertension, Proteinuria, Microscopic hematuria |
ORPHA:2613 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Hypertension, Proteinuria, Renal insufficiency, Focal segmental glomerulosclerosis |
OMIM:607832 |
| Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hypertension, Proteinuria, Focal segmental gl... |
OMIM:603965 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
| Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Atrioventricular dissociation, Atrioventricular ... |
OMIM:614954 |
| Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Increased left ve... |
OMIM:615248 |
| Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Nephritis, Elevated circulatin... |
OMIM:161900 |
| Atrial Septal Defect 6 |
|
Atrial septal defect, Bradycardia, Atrial fibrillation |
OMIM:613087 |
| Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephri... |
OMIM:613944 |
| Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial... |
OMIM:613874 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
| Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea... |
OMIM:613697 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
| Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... |
OMIM:613980 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
| Nephronophthisis 18 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Thickened gl... |
OMIM:615862 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
| Brugada Syndrome 1 |
|
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... |
OMIM:601144 |
| Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... |
OMIM:604169 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat... |
OMIM:614676 |
| Tubulointerstitial Nephritis With Uveitis |
|
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Reversible renal failure, Elevat... |
OMIM:607665 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperten... |
OMIM:137950 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... |
OMIM:610476 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy |
OMIM:607487 |
| Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation |
OMIM:615377 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... |
OMIM:614916 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... |
OMIM:620056 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Bicuspid aortic valve, Ventricular escape rhythm, Mitral regurgitation, Left a... |
OMIM:616201 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Right ventricular dilatation, Left ventri... |
OMIM:614022 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
| Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... |
OMIM:614049 |
| Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
| Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... |
OMIM:602088 |
| Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
| Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:256100 |
| Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hepat... |
OMIM:617610 |
| Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
| Nephronophthisis-Like Nephropathy 2 |
|
Bronchiectasis, Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated ci... |
OMIM:619468 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Medullary nephrocalcinosis, Polyuria, Hypercalcemia, N... |
OMIM:616963 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Skin rash, Arthritis, Synovitis, Hypertension, Serositis... |
ORPHA:567544 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... |
OMIM:115000 |
| Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
| Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... |
OMIM:600858 |
| Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glo... |
OMIM:614377 |
| Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... |
OMIM:611819 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Myxomatous mitral valve ... |
OMIM:614980 |
| Variegate Porphyria |
|
Increased urinary porphobilinogen, Porphyrinuria, Tachycardia, Elevated urinary delta-aminolevuli... |
OMIM:176200 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... |
OMIM:601494 |
| Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
| Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
| Trimethylaminuria |
|
Tachycardia, Recurrent pneumonia, Hypertension, Trimethylaminuria |
OMIM:602079 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... |
OMIM:607450 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
| Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul... |
OMIM:115195 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
| Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
| Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephri... |
OMIM:161950 |
| Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
| Ebstein Anomaly |
|
Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s... |
OMIM:224700 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... |
OMIM:600884 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
| Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... |
OMIM:613873 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Stage 5 chronic k... |
ORPHA:228302 |
| Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
| Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Right ventricular dilatation, First degree atrioventricular block, Left ... |
OMIM:615616 |
| Joubert Syndrome 4 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Nephronophthisis, Abnormal renal medulla mor... |
OMIM:609583 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
| Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
| Hypercalcemia, Infantile, 1 |
|
Medullary nephrocalcinosis, Polyuria, Hypercalcemia, Nephrocalcinosis, Decreased circulating para... |
OMIM:143880 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... |
OMIM:615441 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
| Type 1 Diabetes Mellitus |
|
Polyuria, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia |
OMIM:222100 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Hypertension, Proteinuria |
ORPHA:2820 |
| Brugada Syndrome 7 |
|
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
| Coach Syndrome 3 |
|
Renal tubular atrophy, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal interst... |
OMIM:619113 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
| Congenital Primary Megaureter |
|
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... |
ORPHA:617 |
| Long Qt Syndrome 6 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
| Renal Glucosuria |
|
Enuresis nocturna, Glycosuria, Polyuria, Polyphagia, Polydipsia |
OMIM:233100 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... |
OMIM:604765 |
| Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
| Senior-Loken Syndrome |
|
Stage 5 chronic kidney disease, Premature ovarian insufficiency, Hypertension, Nephronophthisis, ... |
ORPHA:3156 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
| Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... |
ORPHA:54370 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Hyperuricemia, Nephritis, Gout, Nephropathy, Decreased glomerular filtrati... |
OMIM:162000 |
| Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Coronary arter... |
ORPHA:439232 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... |
OMIM:609040 |
| Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:616629 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia |
ORPHA:1479 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Organic aciduria, Cardiomyopathy, Supraventricular tachycardia, Elevated circulating creatine kin... |
OMIM:255100 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
| Nephrotic Syndrome, Type 17 |
|
Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618176 |
| Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... |
OMIM:618782 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome |
OMIM:614199 |
| Long Qt Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... |
OMIM:192500 |
| Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
| Renal Hypoplasia |
|
Vesicoureteral reflux, Hydronephrosis, Abnormal renal cortex morphology, Renal insufficiency, Rec... |
ORPHA:93101 |
| Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level |
OMIM:619406 |
| Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
| Cardiomyopathy, Dilated, 1Y |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... |
OMIM:611878 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
| Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Type II diabetes mel... |
ORPHA:71529 |
| Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Syncope, Large for gestational age, Hyperinsulinemic ... |
ORPHA:276575 |
| Preeclampsia |
|
Acute kidney injury, Abnormality of the kidney, Elevated systolic blood pressure, Hypertension, T... |
ORPHA:275555 |
| Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
| Long Qt Syndrome 12 |
|
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Cerebral hemorrhage, Nephrotic syndrome, Hypertension, Abnor... |
ORPHA:84090 |
| C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Syncope, Maternal diabetes, Large for gestational age... |
ORPHA:276580 |
| Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:606966 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
| Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati... |
OMIM:614723 |
| Denys-Drash Syndrome |
|
Nephroblastoma, Nephrotic syndrome, Hypertension, Nephropathy, Proteinuria |
ORPHA:220 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval |
OMIM:220400 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
| Nephronophthisis 3 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:604387 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... |
OMIM:615184 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
| Nephronophthisis 16 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... |
OMIM:615382 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency |
OMIM:615987 |
| Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hypokalemia, Hypertension, Polyuria, Polydipsia, Hypercalciuria |
OMIM:613677 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation |
OMIM:612956 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Syncope, Large for gestational age, Hyperinsulinemic hypoglycemia, Diff... |
ORPHA:276556 |
| Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... |
OMIM:266900 |
| Coproporphyria, Hereditary |
|
Increased urinary porphobilinogen, Tachycardia, Hypertension, Elevated urinary delta-aminolevulin... |
OMIM:121300 |
| Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... |
OMIM:611875 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Heavy prote... |
ORPHA:255249 |
| Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperaldosteronism, Increased circulating cortisol level, Adrenocortic... |
ORPHA:1501 |
| Bartter Syndrome, Type 3 |
|
Hypotension, Hyperaldosteronism, Hypokalemia, Renal salt wasting, Increased circulating renin lev... |
OMIM:607364 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Imperforate tricuspid valve, Right bundle branch block, Cerebral ischemia, ... |
ORPHA:1880 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Renal h... |
OMIM:614376 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Small for gestational age, Sync... |
ORPHA:324575 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Truncal obesity |
OMIM:240900 |
| Short Qt Syndrome 1 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... |
OMIM:609620 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
| Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity, Hypertension |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity, Hypertension |
OMIM:605572 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria, Hypertension |
OMIM:189800 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71526 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Hyperuricemia, Renal salt wasting, Increased blood urea nitrogen... |
OMIM:613845 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... |
ORPHA:976 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin level, Increas... |
OMIM:610600 |
| Atrial Fibrillation, Familial, 12 |
|
Paroxysmal atrial fibrillation |
OMIM:614050 |
| Bardet-Biedl Syndrome 19 |
|
Renal hypoplasia, Renal insufficiency, Hypogonadism, Hydronephrosis |
OMIM:615996 |
| Atrial Fibrillation, Familial, 1 |
|
Atrial fibrillation |
OMIM:608583 |
| Atrial Fibrillation, Familial, 2 |
|
Atrial fibrillation |
OMIM:608988 |
| Atrial Fibrillation, Familial, 5 |
|
Atrial fibrillation |
OMIM:611494 |
| Xanthinuria, Type I |
|
Hyperxanthinemia, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria, Hydronephrosis |
OMIM:278300 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level, Decreased circulating aldosterone level |
OMIM:605115 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
| Ochoa Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Hypertension, Re... |
ORPHA:2704 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Neurogenic bladder, Hypospadias, Stage... |
OMIM:191800 |
| Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... |
OMIM:617609 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... |
OMIM:143400 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... |
ORPHA:75249 |
| Senior-Loken Syndrome 3 |
|
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresis |
OMIM:606995 |
| Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Cardiomyocyte hy... |
OMIM:613507 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
| Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Hypomagnesemia 3, Renal |
|
Hyperuricemia, Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiu... |
OMIM:248250 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity, Myocardial infarction, Hypertension |
OMIM:608320 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Aortic root aneurysm, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarge... |
ORPHA:730 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... |
OMIM:612925 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| Cryoglobulinemia, Familial Mixed |
|
Hematuria, Abnormal renal physiology, Hypertension, Elevated circulating creatinine concentration... |
OMIM:123550 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Hematuria, Decreased serum creatinine, Myocardial infarction, Proteinuria, A... |
ORPHA:54057 |
| Heme Oxygenase 1 Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Hematuria, Hypertension, Nephritis, ... |
OMIM:614034 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... |
OMIM:241150 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612926 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
| Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency, Hypertension, Hypogonadism |
OMIM:618681 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Abnormal renal corticomedullary differentiation, Elevated circulating creatinine co... |
OMIM:616733 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca... |
OMIM:613092 |
| Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
| Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Scleritis, Acute kidney injury, Arteri... |
ORPHA:93126 |
| Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
| Nephronophthisis 19 |
|
Stage 5 chronic kidney disease, Renal interstitial fibrosis, Hyperechogenic kidneys, Nephronophth... |
OMIM:616217 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Pulmonic stenosis, Hydronephrosis |
OMIM:264140 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Hyperuricemia, Renal cyst, Gout, Nephropathy, Elevated circulating creatinine concentration, Foca... |
OMIM:617056 |
| Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo... |
OMIM:104200 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine kinase, Elevated ci... |
ORPHA:368 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612924 |
| Obesity Due To Sim1 Deficiency |
|
Hypotension, Hyperinsulinemia, Obesity, Glucose intolerance, Postural hypotension with compensato... |
ORPHA:369873 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Irregular menstruation, Isosexual precocious puberty, Increased urinary 11-deoxycorticosterone le... |
ORPHA:90795 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Medullary nephrocalcinosis, Increased circulating renin level, Hypochloremia, Polyur... |
OMIM:300971 |
| Focal Segmental Glomerulosclerosis 1 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Hypertension |
OMIM:603278 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Irregular menstruation, Hyperaldosteronism, Increased circulating cortisol level, Renal cell carc... |
ORPHA:189427 |
| Senior-Boichis Syndrome |
|
Increased total bilirubin, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Abnormal... |
ORPHA:84081 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... |
OMIM:108950 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... |
OMIM:615008 |
| Joubert Syndrome 15 |
|
Nephronophthisis, Micropenis |
OMIM:614464 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Pulmonary embolism, Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urin... |
ORPHA:567548 |
| Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Hepatic steatosi... |
OMIM:619048 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
| Image Syndrome |
|
Adrenal hypoplasia, Hypospadias, Hypogonadism, Hydronephrosis |
ORPHA:85173 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Increased circulating renin level, Hyp... |
OMIM:177735 |
| Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base... |
OMIM:613550 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Hyperglycinemia, Methylmalonic acidemia, Stage 5 chronic kidney dis... |
OMIM:251000 |
| Hereditary Xanthinuria |
|
Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,... |
ORPHA:3467 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Renal sodium wasting, Hypokalemia, Renal salt wasting, Increased circulating renin level, Hyperte... |
OMIM:612780 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration,... |
OMIM:145600 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... |
ORPHA:157 |
| Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:103900 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Nephrotic syndrome, Renal interstitial amylo... |
ORPHA:85450 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
| Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:614131 |
| Nephrotic Syndrome, Type 10 |
|
Steroid-resistant nephrotic syndrome, Minimal change glomerulonephritis, Podocyte foot process ef... |
OMIM:615861 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... |
ORPHA:45452 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Stage 5 chronic kidney disease, Glomerular basement membrane disruption, Thickened glomerular bas... |
OMIM:609057 |
| Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Porphyrinuria, Nephropathy, Hyponatremia, Increased... |
ORPHA:79273 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome |
ORPHA:69063 |
| C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
| Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation |
OMIM:615378 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
| Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... |
ORPHA:2041 |
| Hinman Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone... |
ORPHA:84085 |
| Arrhythmogenic right ventricular dysplasia, familial, 2 |
|
Effort-induced polymorphic ventricular tachycardia, Dilatation of the ventricular cavity, Right v... |
OMIM:600996 |
| Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Renal sodium wasting, Hypokalemia, Hypertension, Nephrocalcino... |
ORPHA:320 |
| Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Nephritis, Myocardial infarction, Nephropathy, Menorrhagia, Pro... |
ORPHA:182050 |
| Gitelman Syndrome |
|
Hypotension, Hypokalemia, Nocturia, Increased circulating renin level, Prolonged QT interval, Pol... |
OMIM:263800 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
| Birk-Landau-Perez Syndrome |
|
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Increased circulating creatine kina... |
OMIM:617595 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... |
ORPHA:99103 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Nephrocalcinosis, Hyp... |
OMIM:179800 |
| Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
| Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
| Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
| Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
| Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Cor... |
ORPHA:1330 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... |
ORPHA:228308 |
| Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
| Urofacial Syndrome 2 |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency... |
OMIM:615112 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Renal insufficiency, Nephritis |
ORPHA:3327 |
| Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:203780 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale, Hyperactivity, Attention deficit hyperactivity disorder, Bradycardia, Sick ... |
OMIM:617182 |
| Bardet-Biedl Syndrome 16 |
|
Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Recurrent otitis media, Renal cy... |
OMIM:615993 |
| Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Pancreatic cysts, Chronic pancreatitis, Stage 5 chronic kidney disease, Re... |
OMIM:613159 |
| Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
| Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Pheochromocytoma,... |
OMIM:171300 |
| Renal Nutcracker Syndrome |
|
Infertility, Syncope, Hematuria, Dysmenorrhea, Dyspareunia, Renal artery stenosis, Orthostatic hy... |
ORPHA:71273 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Jaundice, Elevated hepatic transaminase, Renal cyst... |
OMIM:619902 |
| Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
| Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Increased circulating cortisol level, Secondary amenorrhea, D... |
OMIM:610489 |
| Brugada Syndrome 4 |
|
Shortened QT interval, Atrial fibrillation, Syncope |
OMIM:611876 |
| Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Hypertension, Nephropathy, Proteinuria |
OMIM:105200 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Increased circulating renin level, Hyperkalemia, Decreased circulating aldosterone level, Hyponat... |
OMIM:203400 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Pheochromocytoma,... |
OMIM:171420 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Gout, Nephropathy, Macros... |
ORPHA:79233 |
| Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
| Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Hyperkalemia,... |
ORPHA:556037 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Acute kidney injury, Skin rash, Decrease... |
ORPHA:542323 |
| Posterior Urethral Valve |
|
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... |
ORPHA:93110 |
| Long Qt Syndrome 14 |
|
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
| Dysmyelination With Jaundice |
|
Hydroureter, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Irregular menstruation, Increased circulating cortisol level, Type II diabetes mellitus, Decrease... |
ORPHA:189439 |
| Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,... |
ORPHA:99106 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis, Hyperalaninemia |
OMIM:614582 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Impotence, Large vessel vasculitis, Psoriasiform dermatitis, Retrograde ejaculation, Acute kidney... |
ORPHA:49041 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased ... |
OMIM:613090 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Hyperaldosteronism, Hypokalemia, Renal salt wasting, Hypern... |
OMIM:602522 |
| Jeune Syndrome |
|
Nephronophthisis, Nephropathy, Renal insufficiency |
ORPHA:474 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Tubulointerstitial nephritis, Proteinuria, Hematuria |
OMIM:616901 |
| Short Qt Syndrome 7 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation |
OMIM:620231 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
| Relapsing Fever |
|
Increased total bilirubin, Hypotension, Acute kidney injury, Hematuria, Epistaxis, Elevated circu... |
ORPHA:91547 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Decreased circulating parathyr... |
OMIM:601198 |
| Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
| Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... |
OMIM:615373 |
| Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperhidrosis, Hyperactivity, Weight loss, Congestive heart failure, Increased circulating free T... |
OMIM:275000 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Hepatic cysts, Stage 5 chronic kidney disease, Glomerular subepithelial immune-... |
OMIM:616307 |
| Macrosomia Adiposa Congenita |
|
Obesity, Polyphagia, Large for gestational age, Adrenocortical adenoma |
OMIM:248100 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... |
OMIM:611777 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... |
OMIM:612422 |
| Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
| 8P23.1 Duplication Syndrome |
|
Adrenal insufficiency, Pulmonic stenosis, Hydronephrosis |
ORPHA:251076 |
| Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
| Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level |
OMIM:618114 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Infectious encephalitis, Nephrotic syndrome, Hepatitis, Skin rash, ... |
ORPHA:139402 |
| Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK... |
ORPHA:85451 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... |
OMIM:613095 |
| Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
| Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Hyposthenuria, Hyperaldosteronism, Hyperprostaglandinuria, Hypo... |
OMIM:601678 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiomyopathy, Dysphagia, Bradyc... |
OMIM:616276 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
| Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Hyperkalemia,... |
ORPHA:556030 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Elevated systolic ... |
OMIM:300539 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Tachycardia, Abnormal urinary color, Congestive heart failure |
ORPHA:90037 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Polyuria, Polydipsia, Megacystis |
OMIM:125800 |
| Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
| Bardet-Biedl Syndrome 17 |
|
Hypogonadism, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis |
OMIM:615994 |
| Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Hypotension, Urinary incontinence, Urinary urgency |
OMIM:156310 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Polyuria, Polydipsia, Megacystis |
OMIM:304800 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Syncope, Tachycardia |
OMIM:192445 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
| Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine ... |
ORPHA:99845 |
| Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
| Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Multiple small medullary renal cysts, Neonatal death, Enlarged kidney, Polycyst... |
OMIM:263200 |
| Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Mitral valve prolapse, Atrial fibrillation |
OMIM:616166 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Cardiomyopathy |
ORPHA:320360 |
| Snakebite Envenomation |
|
Hypotension, Cerebral ischemia, Acute kidney injury, Cardiogenic shock, Hypopituitarism, Intracra... |
ORPHA:449285 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... |
ORPHA:786 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... |
ORPHA:529970 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased serum leptin, Polyphagia, Obesity, Micropenis |
OMIM:614962 |
| Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Enuresis, Urethral valve, Urethral obstruction, ... |
OMIM:236730 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Cystinosis |
|
Aminoaciduria, Hypophosphatemia, Hypokalemia, Nephropathy, Polydipsia, Proteinuria, Portal hypert... |
ORPHA:213 |
| Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Conjunctivitis, Recurrent urinar... |
ORPHA:33001 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts |
OMIM:609886 |
| Teratoma, Pineal |
|
Polyuria, Polydipsia |
OMIM:273120 |
| Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Hypocalcemic tetany, Low-molecular-weight ... |
ORPHA:411634 |
| Nephrogenic Diabetes Insipidus |
|
Hyposthenuria, Enuresis nocturna, Hypovolemia, Hydroureter, Renal insufficiency, Hypernatremia, F... |
ORPHA:223 |
| Joubert Syndrome 7 |
|
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:611560 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia... |
ORPHA:449395 |
| Collagenoma, Familial Cutaneous |
|
Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu... |
OMIM:115250 |
| Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis |
ORPHA:195 |
| Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... |
OMIM:120330 |
| Alport Syndrome |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Thickening of glomerular capillary wall,... |
ORPHA:63 |
| Drug-Induced Lupus Erythematosus |
|
Malar rash, Hematuria, Elevated circulating creatine kinase concentration, Pericarditis, Increase... |
ORPHA:231111 |
| Nephrotic Syndrome, Type 2 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:600995 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Amelogenesis Imperfecta, Type Ig |
|
Impaired renal concentrating ability, Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency |
OMIM:204690 |
| Xanthinuria, Type Ii |
|
Hyperxanthinemia, Increased urinary hypoxanthine, Hypouricemia, Xanthinuria, Renal insufficiency,... |
OMIM:603592 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1909 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
| Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Increased pulmonary capillary wedge pressure, Abn... |
ORPHA:97292 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Skin rash, Abnormal urinary color, Tachycardia |
ORPHA:90036 |
| Alstrom Syndrome |
|
Tubulointerstitial nephritis, Hyperuricemia, Chronic active hepatitis, Nephritis, Recurrent pneum... |
OMIM:203800 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypospadias, Bradycardia, Micropenis |
OMIM:618815 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Ventricular tachycardia, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Congestive heart failure |
OMIM:605676 |
| Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia, Hypertension, Increased urinary potassium, Epista... |
ORPHA:231580 |
| Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Ventricular septal defect, Abnormal mitral valve morp... |
ORPHA:860 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
| East Syndrome |
|
Renal sodium wasting, Hypokalemia, Renal salt wasting, Abnormal urinary electrolyte concentration... |
ORPHA:199343 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Multiple renal cysts, Renotubular dysgenesis |
ORPHA:3033 |
| Atrial Standstill 2 |
|
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... |
OMIM:615745 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiac arrest, Dicarboxylic aciduria, Elevated circulating creatine kinase concentr... |
OMIM:212138 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Calcinosis, Hyperphosphaturia, Hypophosphatemia, Elevated circulating parathyroid ... |
OMIM:239200 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst, Neonatal death |
OMIM:614870 |
| X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
| Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Myocardial infarction, Abnormality of venous physiology, Abnormal c... |
ORPHA:90064 |
| Spermatogenic Failure 63 |
|
Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Pyelonephritis, Nephritis, Renal dysplasia |
OMIM:314300 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat... |
OMIM:615605 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
| Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Hyperkalemia,... |
ORPHA:97362 |
| Hydroxykynureninuria |
|
Hypotension, Renal tubular acidosis, Stomatitis, Abnormal circulating tryptophan concentration, T... |
ORPHA:79155 |
| Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
| Helix Syndrome |
|
Hypokalemia, Hypermagnesemia, Polyuria, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Poly... |
OMIM:617671 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Polyphagia |
OMIM:618406 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Tubulointerstitial nephritis, Glomerulopathy, Endocarditis, Skin rash, Arthritis, Hematuria, Myos... |
ORPHA:183 |
| Galactosemia I |
|
Aminoaciduria, Increased level of galactitol in urine, Galactosuria, Albuminuria |
OMIM:230400 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinur... |
ORPHA:488627 |
| Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
| Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
| Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... |
ORPHA:563 |
| Mercury Poisoning |
|
Hypotension, Acute kidney injury, Interstitial pneumonitis, Hypokalemia, Hypertension, Tachycardia |
ORPHA:330021 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Diabetes mellitus, Nephropathy, Renal artery stenosis, Coronary artery atherosclerosis, Proteinur... |
OMIM:209010 |
| Tetanus |
|
Elevated urinary epinephrine, Hypertension, Elevated circulating creatine kinase concentration, E... |
ORPHA:3299 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... |
OMIM:614650 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Sudden cardiac death, Palpitations, Atrioventricular block, Atrial arrhythmia, Absent P wave, Fir... |
OMIM:310300 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Aa Amyloidosis |
|
Hypotension, Hypothyroidism, Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormalit... |
ORPHA:85445 |
| Lysinuric Protein Intolerance |
|
Hyperlysinuria, Ornithinuria, Glomerulonephritis, Hypercholesterolemia, Argininuria, Renal fibros... |
ORPHA:470 |
| Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT interval, Polydipsia,... |
ORPHA:251274 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... |
ORPHA:216694 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent increased renal ... |
OMIM:600740 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
| Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
| Systemic Lupus Erythematosus |
|
Malar rash, Arthritis, Nephritis, Pericarditis, Lupus nephritis |
OMIM:152700 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Polyuria, Type I diabetes mellitus |
OMIM:560000 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Crusting erythematous dermatitis, Eczema, Abnormal blood ion concentr... |
ORPHA:37042 |
| Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Hyposthenuria, Hyperaldosteronism, Hyperprostaglandinuria, Hypo... |
OMIM:241200 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Pericardial effusion, Failure to thrive, Hypertrophic cardiomyopathy, ... |
OMIM:614702 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood urea nitrogen, Hyperca... |
ORPHA:251004 |
| Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
| Arima Syndrome |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy... |
OMIM:243910 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Right bundle branch block, T-wave inversion, Ventricular septal hypertro... |
ORPHA:263297 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
| Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... |
ORPHA:1329 |
| Uremic Pruritus |
|
Inflammatory abnormality of the skin, Stage 5 chronic kidney disease, Hypermagnesemia, Increased ... |
ORPHA:94059 |
| Holzgreve Syndrome |
|
Renal hypoplasia, Renal agenesis |
OMIM:236110 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Dicarb... |
ORPHA:159 |
| Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Weight loss, Abnormal EKG, Nephrotic syndro... |
ORPHA:330001 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Acute tubulointerstitial nephritis, Shock, Glomerulonephritis, Palpitations, Oliguri... |
ORPHA:340 |
| Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph... |
OMIM:219800 |
| Cholera |
|
Hypotension, Abnormality of renal excretion, Aspiration pneumonia, Acute kidney injury, Decreased... |
ORPHA:173 |
| Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Transient ischemic attack, Abnormal renal physiology, Increased blood ... |
OMIM:274150 |
| Ciliary Dyskinesia, Primary, 41 |
|
Bronchiectasis, Infertility, Recurrent sinusitis, Recurrent otitis media, Immotile sperm |
OMIM:618449 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Timothy Syndrome |
|
Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Prolonged QT interval, Hypoglyce... |
OMIM:601005 |
| Chromosome 5Q12 Deletion Syndrome |
|
Hypotension, Decreased body mass index, Disproportionate tall stature |
OMIM:615668 |
| Bacterial Toxic-Shock Syndrome |
|
Hypotension, Septic arthritis, Fasciitis, Elevated circulating creatine kinase concentration, Sho... |
ORPHA:36234 |
| Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Proteinuria,... |
ORPHA:225 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria |
ORPHA:163690 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Diabetes mellitus, Diabetes insipidus, Hydronephrosis |
OMIM:598500 |
| Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona... |
ORPHA:75565 |
| Bardet-Biedl Syndrome 11 |
|
Obesity, Hypogonadism |
OMIM:615988 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome |
ORPHA:839 |
| Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hyp... |
OMIM:301050 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Rhinitis, Retrograde ejaculation, Abnormal EKG, Syncope, Nocturia, Elevated uri... |
ORPHA:230 |
| Vesicoureteral Reflux 3 |
|
Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicoureteral reflux, G... |
OMIM:613674 |
| Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3316 |
| Central Diabetes Insipidus |
|
Nocturia, Polydipsia, Hyponatremia |
ORPHA:178029 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circulating renin ... |
ORPHA:171876 |
| Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney |
ORPHA:459061 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
| Coach Syndrome 1 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Elevated hepatic transamina... |
OMIM:216360 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
| Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... |
OMIM:610725 |
| Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... |
OMIM:300257 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, ... |
OMIM:214700 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Polyph... |
OMIM:614963 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Nephrotic syndrome |
OMIM:617006 |
| Chromosome 15Q25 Deletion Syndrome |
|
Dilatation of renal calices, Coronary artery fistula |
OMIM:614294 |
| Thyrocerebroretinal Syndrome |
|
Goiter, Nephritis |
OMIM:274240 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Abnormal renal physiology, Glomerular sclerosis, Increased blood urea nitrogen, Ort... |
OMIM:223900 |
| Narcolepsy Type 1 |
|
Obesity, Syncope |
ORPHA:2073 |
| 6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
| Congenital Isolated Acth Deficiency |
|
Hypotension, Hepatitis, Decreased circulating cortisol level, Neonatal hypoglycemia, Adrenocortic... |
ORPHA:199296 |
| Insulinoma |
|
Hyperhidrosis, Hyperinsulinemia, Nonketotic hypoglycemia, Abnormality of the pancreatic islet cel... |
ORPHA:97279 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Glycosuria, Abnormal circulating fatty-acid concentration, Hyperinsulinemic hyp... |
ORPHA:263455 |
| Complement Factor I Deficiency |
|
Septic arthritis, Recurrent urinary tract infections, Pyelonephritis, Recurrent sinusitis, Recurr... |
OMIM:610984 |
| Renal Cysts And Diabetes Syndrome |
|
Hyperuricemia, Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Reduced spe... |
OMIM:137920 |
| Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, Renal cyst, Hydronephrosis |
OMIM:613390 |
| Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614492 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Porphyrinuria, Neurogenic bladder, Hypertension, In... |
ORPHA:79473 |
| Nelson Syndrome |
|
Diabetes insipidus, Increased circulating prolactin concentration, Pituitary corticotropic cell a... |
ORPHA:199244 |
| Joubert Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:608629 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Obesity, Polyphagia |
ORPHA:329249 |
| Brugada Syndrome 9 |
|
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation |
OMIM:616399 |
| Porphyria, Acute Intermittent |
|
Urinary incontinence, Urinary retention, Dysuria, Hypertension, Tachycardia, Elevated urinary del... |
OMIM:176000 |
| Congenital Myopathy 19 |
|
Renal atrophy, Hydronephrosis |
OMIM:618578 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Hyperechogenic kidneys, Hypertension |
OMIM:619111 |
| Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Proteinuria, Hematuria |
ORPHA:2134 |
| Ethylene Glycol Poisoning |
|
Hypotension, Decreased urine output, Renal tubular epithelial necrosis, Hematuria, Hypocalcemia, ... |
ORPHA:31826 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism, Failure to thrive, Hyperactive renin-an... |
OMIM:264350 |
| Holt-Oram Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Hypoplastic left ... |
ORPHA:392 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616277 |
| Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level |
OMIM:177200 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Hypokalemia, Intracranial hemorrhage, Hypertension, Epistaxis, S... |
ORPHA:369929 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613913 |
| Analbuminemia |
|
Hypotension, Lipodystrophy |
OMIM:616000 |
| Bardet-Biedl Syndrome 22 |
|
Obesity, Polyphagia, Large for gestational age, Hypogonadism |
OMIM:617119 |
| Rhyns Syndrome |
|
Nephronophthisis, Renal insufficiency, Chronic kidney disease |
OMIM:602152 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Hyperuricemia, Acute kidney injury, Renal cell carc... |
ORPHA:93111 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hypertension, Increased blood urea nitrog... |
OMIM:235400 |
| Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Infertility, Hypotension, Amenorrhea |
ORPHA:95619 |
| Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... |
ORPHA:34217 |
| Cocaine Intoxication |
|
Hypotension, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmia, Elevated circu... |
ORPHA:90068 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Lead Poisoning |
|
Tubulointerstitial nephritis, Skin rash, Increased LDL cholesterol concentration, Decreased HDL c... |
ORPHA:330015 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
| Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Pulmonary arterial hypertension, Hepatitis, Dilated cardiomyopathy, Recurre... |
OMIM:614921 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal cyst, Renal insufficiency, Hematuria, Elevated circulating creatine kinase concentration |
OMIM:611773 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... |
OMIM:115197 |
| Bardet-Biedl Syndrome 4 |
|
Renal cyst, Abnormality of the kidney |
OMIM:615982 |
| Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Hyperaldosteronism, Ven... |
ORPHA:37553 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Abnormal aortic morphology, Hyperuricemia, Hypertension, Arrhythmia, Renal insufficiency, Cardiom... |
ORPHA:3222 |
| 46,Xy Sex Reversal 4 |
|
Renal dysplasia, Recurrent otitis media, Increased blood urea nitrogen, Ureteropelvic junction ob... |
OMIM:154230 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomeru... |
ORPHA:567546 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
| Al Amyloidosis |
|
Reduced left ventricular ejection fraction, Nephrotic syndrome, Renal interstitial amyloid deposi... |
ORPHA:85443 |
| Liddle Syndrome |
|
Cerebral ischemia, Hypokalemia, Hypertension, Nephropathy, Arrhythmia, Renal insufficiency |
ORPHA:526 |
| Joubert Syndrome 35 |
|
Renal fibrosis, Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Gout, Decreased glomerular filtratio... |
OMIM:618061 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Jaundice, Elevated hepatic transami... |
OMIM:208085 |
| Intermediate Uveitis |
|
Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis |
ORPHA:279914 |
| Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Hypertension, Renal cyst, Peripheral pulm... |
OMIM:610205 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Hypertension, Congestive heart failure, Hepatic st... |
OMIM:615703 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Desmoid Tumor |
|
Abnormality of the upper urinary tract, Gastrointestinal hemorrhage, Hydronephrosis |
ORPHA:873 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphoma, Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pa... |
OMIM:614470 |
| Spermatogenic Failure 24 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... |
OMIM:617959 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity, Bradycardia |
OMIM:609924 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
| Idiopathic Hypercalciuria |
|
Abnormal circulating calcium concentration, Calcium oxalate nephrolithiasis, Parathormone-indepen... |
ORPHA:2197 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nephronophthisis, Chronic kidney disease |
OMIM:615630 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... |
ORPHA:90791 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Supraventricular tachycardia, Acute kidney injury, Hyperkalemia, Elevated crea... |
ORPHA:423 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia |
OMIM:620085 |
| Idiopathic Congenital Hypothyroidism |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95717 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension, Increased circulating prolactin concentration, Precocious puberty, Decreased respons... |
ORPHA:91354 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Antenatal intracerebral hemorrhage, Decreased plasma free carnitine, R... |
OMIM:608836 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Abnormal urinary color, Congestive heart failure |
ORPHA:90033 |
| Neuroleptic Malignant Syndrome |
|
Hypotension, Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Pulmonary embolism, Aspirati... |
ORPHA:94093 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Renal insufficiency, Myoglobinuria |
OMIM:255110 |
| Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Ventricula... |
ORPHA:36913 |
| Simple Cryoglobulinemia |
|
Nephrotic syndrome, Abnormality of the kidney, Vasculitis, Raynaud phenomenon, Arthritis, Membran... |
ORPHA:91139 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Renal dysplasia, ... |
OMIM:618183 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
| Wolfram Syndrome 1 |
|
Hydronephrosis, Hypothyroidism, Diabetes insipidus, Neurogenic bladder, Hydroureter, Testicular a... |
OMIM:222300 |
| Igg4-Related Aortitis |
|
Ascending tubular aorta aneurysm, Abnormal aortic arch morphology, Elevated circulating C-reactiv... |
ORPHA:449400 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Calcinosis, Hypokalemia, Hypertension, Renal artery stenosis, Hyponatremia, Renal ... |
OMIM:617913 |
| Acquired Von Willebrand Syndrome |
|
Hypotension, Hematuria, Intracranial hemorrhage, Epistaxis, Metrorrhagia, Melena, Aortic regurgit... |
ORPHA:99147 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
| Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
| Zollinger-Ellison Syndrome |
|
Pituitary corticotropic cell adenoma, Pituitary null cell adenoma, Pituitary prolactin cell adeno... |
ORPHA:913 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormality of medullary pyramid morphology, Increased serum pyruvate, Recurrent aspiration pneum... |
ORPHA:79243 |
| Paragangliomas 4 |
|
Elevated urinary catecholamines, Glomus jugular tumor, Hypertension associated with pheochromocyt... |
OMIM:115310 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Telangiectasia, Punctate vasculitis skin lesions, Skin rash, Raynaud phenomenon, Hypertension, Gl... |
ORPHA:247691 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Micropenis, Tachycardia |
OMIM:613870 |
| Systemic Capillary Leak Syndrome |
|
Hypotension, Abnormal renal tubule morphology, Pericarditis, Oliguria, Arrhythmia, Renal insuffic... |
ORPHA:188 |
| Renal Tubular Dysgenesis |
|
Abnormality of the urinary system, Anuria, Renotubular dysgenesis, Hypotension |
OMIM:267430 |
| Cortisone Reductase Deficiency 2 |
|
Obesity, Insulin resistance, Premature pubarche |
OMIM:614662 |
| Microscopic Polyangiitis |
|
Glomerulopathy, Episcleritis, Skin rash, Arthritis, Peritonitis, Hematuria, Congestive heart fail... |
ORPHA:727 |
| Familial Thyroid Dyshormonogenesis |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95716 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici... |
OMIM:609734 |
| Joubert Syndrome 6 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:610688 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Impaired glucose tolerance, Failure to thrive, Atrioventricular block, Joint contracture of the 5... |
OMIM:614407 |
| Acute Intermittent Porphyria |
|
Urinary incontinence, Porphyrinuria, Urinary retention, Dysuria, Hypertension, Hyponatremia, Incr... |
ORPHA:79276 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Scleritis, Mild proteinuria, Renal interstitial edema, Renal neutrophilic tubuliti... |
ORPHA:91500 |
| Methanol Poisoning |
|
Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemorrhage, Inflammatory arterio... |
ORPHA:31825 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypertension, Proteinuria, Tubulointer... |
OMIM:618913 |
| Myotonic Dystrophy 1 |
|
Atrial flutter, First degree atrioventricular block, Atrial fibrillation |
OMIM:160900 |
| Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Congestive heart failure, Abnormal left ventricle morphology, Arrhythmia, Abnorm... |
ORPHA:1055 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactiv... |
ORPHA:276608 |
| Cln3 Disease |
|
Urinary bladder sphincter dysfunction, T-wave inversion, Left ventricular hypertrophy, Dysphagia,... |
ORPHA:228346 |
| Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Truncus arteriosus,... |
ORPHA:980 |
| Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... |
OMIM:619155 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Increased urinary glycerol |
OMIM:229700 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, Enlarged kidney, Pericardial effusion, ST segment depression, Cong... |
OMIM:261740 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Hydronephrosis |
OMIM:607598 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Multiple renal cysts |
ORPHA:2924 |
| Pediatric-Onset Graves Disease |
|
Hyperhidrosis, Hyperactivity, Sinus tachycardia, Increased circulating T4 concentration, Jaundice... |
ORPHA:525731 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Facial telangiectasia, Pulmonic stenosis, Hydronephrosis |
OMIM:620141 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperuricosuria, Hypovolemia, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting r... |
ORPHA:47159 |
| Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Pulmonary arterial hypertension, Alaninuria, Lacticaciduria, Hyperprol... |
OMIM:616299 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Torsade de pointes, Elevated circulating acylcarnitine concentration, Hypothyroidism, Premature t... |
OMIM:616878 |
| Endove Syndrome, Limb-Brain Type |
|
Recurrent urinary tract infections, Neurogenic bladder, Osteomyelitis, Hydronephrosis |
OMIM:619218 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level |
OMIM:218030 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Paroxysmal atrial fibrillation |
OMIM:613205 |
| Pediatric Systemic Lupus Erythematosus |
|
Malar rash, Nephrotic syndrome, Discoid lupus rash, Skin rash, Arthritis, Raynaud phenomenon, Hem... |
ORPHA:93552 |
| Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... |
OMIM:300888 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... |
ORPHA:542306 |
| Plasminogen Deficiency, Type I |
|
Conjunctivitis, Periodontitis, Nephritis, Decreased level of plasminogen, Nephrolithiasis |
OMIM:217090 |
| Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria |
OMIM:160010 |
| Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia |
ORPHA:95626 |
| Tetraploidy |
|
Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the thymus, Hydronephrosis |
ORPHA:3305 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Polyphagia, Polydipsia |
OMIM:615986 |
| Desminopathy |
|
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... |
ORPHA:98909 |
| Neuroendocrine Tumor Of The Colon |
|
Hypotension, Facial telangiectasia, Weight loss, Increased serum serotonin, Atypical pulmonary ca... |
ORPHA:100080 |
| Atresia Of Urethra |
|
Vesicoureteral reflux, Pulmonary insufficiency, Renal dysplasia, Bladder fistula, Hydroureter, Re... |
ORPHA:105 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Hypogonadism, Diabetes mellitus, Abnormality of the thyroid gland, Arrhythmia, Dysphagia, Bradyca... |
OMIM:609286 |
| Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis |
OMIM:617564 |
| Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... |
ORPHA:254516 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... |
OMIM:620138 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Decrea... |
ORPHA:226313 |
| Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Adrenal insufficiency, Hyperkalemia, Increased circulati... |
ORPHA:427 |
| Polycythemia Vera |
|
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... |
OMIM:263300 |
| Congenital Tricuspid Stenosis |
|
Hypotension, Pulmonary arterial hypertension, Heart murmur, Congestive heart failure, Carcinoid t... |
ORPHA:95459 |
| Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Proteinuria, Hematuria, Pulmonary venous hypertension |
ORPHA:90060 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Polyphagia, Obesity |
OMIM:617885 |
| Wiedemann-Steiner Syndrome |
|
Dilatation of renal calices, Decreased response to growth hormone stimulation test |
ORPHA:319182 |
| Scorpion Envenomation |
|
Myocarditis, Ketonuria, Acute kidney injury, Priapism, Glycosuria, Hypokalemia, Cardiogenic shock... |
ORPHA:466677 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Nephroblastoma, Recurrent pancreatitis, Papillary renal cell carcinoma, Polycystic kidney dysplas... |
OMIM:145001 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Dilatation of renal calices, Pelvic kidney |
ORPHA:466950 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Carotid artery calcification, Abdominal aortic calcification, Hypertension, Congestive heart fail... |
OMIM:208000 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Transient ischem... |
ORPHA:99104 |
| Distal Trisomy 6P |
|
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis |
ORPHA:1745 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Wolff-Parkins... |
ORPHA:137675 |
| Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Decreased circulating cortisol level, Hypertension |
OMIM:611489 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Hypokal... |
ORPHA:18 |
| Congenital Hypothyroidism |
|
Hypotension, Hypogonadism, Hypertension, Abnormality of reproductive system physiology, Sinusitis... |
ORPHA:442 |
| Bronchial Neuroendocrine Tumor |
|
Hypotension, Facial telangiectasia, Increased circulating cortisol level, Weight loss, Cardiogeni... |
ORPHA:97287 |
| Netherton Syndrome |
|
Aminoaciduria, Skin rash, Eczema, Ectopic kidney, Erythroderma, Hydronephrosis |
ORPHA:634 |
| Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... |
ORPHA:66628 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis |
OMIM:619797 |
| Odontochondrodysplasia 1 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:184260 |
| Bor Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junc... |
ORPHA:107 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Dilatation of renal calices, Pelvic kidney |
ORPHA:466943 |
| Erythrocytosis, Familial, 2 |
|
Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage, Failure to thrive, Elevated ci... |
OMIM:263400 |
| Webb-Dattani Syndrome |
|
Vesicoureteral reflux, Diabetes insipidus, Decreased response to growth hormone stimulation test,... |
OMIM:615926 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Tachycardia |
OMIM:188580 |
| Colchicine Poisoning |
|
Hypotension, Hypovolemia, Cardiogenic shock, Hypophosphatemia, Hypokalemia, Hypocalcemia, Congest... |
ORPHA:31824 |
| Prolactinoma |
|
Irregular menstruation, Decreased fertility in females, Female hypogonadism, Hypotension, Impoten... |
ORPHA:2965 |
| Dyschondrosteosis And Nephritis |
|
Nephritis |
OMIM:127350 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Uric acid nephrolithiasis, Crystalluria, Hyperuricemia, Stage 4 chronic kidney disease, Acute kid... |
ORPHA:411536 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Congestive heart failure, Nephritis, ... |
OMIM:617303 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
| Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Interrupted aortic arch, Renal cyst, Elevated circulating creatinine conce... |
OMIM:617478 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Abnormal blood ion c... |
ORPHA:411629 |
| Gitelman Syndrome |
|
Palpitations, Decreased urinary potassium, Polydipsia, Renal tubular acidosis, Low-to-normal bloo... |
ORPHA:358 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, Decreased serum estradiol... |
ORPHA:179494 |
| Axial Osteomalacia |
|
Renal cyst, Elevated circulating creatine kinase concentration |
OMIM:109130 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis |
OMIM:613735 |
| Familial Glucocorticoid Deficiency |
|
Hypotension, Precocious puberty, Decreased circulating aldosterone level, Weight loss, Ketotic hy... |
ORPHA:361 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ectopic kidney, Neonatal death, Cystic renal dysplasia |
OMIM:613730 |
| Diabetic Embryopathy |
|
Hydronephrosis, Abnormal aortic morphology, Renal hypoplasia/aplasia, Abnormality of the pulmonar... |
ORPHA:1926 |
| Prune Belly Syndrome |
|
Congenital posterior urethral valve, Hydroureter, Hydronephrosis |
OMIM:100100 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:608709 |
| Primary Hyperoxaluria Type 3 |
|
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... |
ORPHA:93600 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Prostatitis, Inflammatory abnormality of the eye, Angina pectoris, Pericarditis, ... |
ORPHA:900 |
| Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
| Heart Block, Congenital |
|
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... |
OMIM:234700 |
| Neuroendocrine Tumor Of The Rectum |
|
Hypotension, Facial telangiectasia, Weight loss, Increased serum serotonin, Atypical pulmonary ca... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hypotension, Facial telangiectasia, Weight loss, Increased serum serotonin, Atypical pulmonary ca... |
ORPHA:100082 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Increased urinary glycerol, Neonatal hyperbilirubinemia, Tachycardia |
ORPHA:348 |
| Systemic Sclerosis |
|
Pulmonary arterial hypertension, Gastrointestinal telangiectasia, Telangiectasia, Nail bed telang... |
ORPHA:90291 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Acute kidney injury, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Hypert... |
ORPHA:90038 |
| Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephroblastoma, Renal hamartoma, Hypophosphatemia, Renal cyst, Polydipsia, Hypercalcemia, Dysphag... |
ORPHA:99880 |
| Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Renal Coloboma Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... |
ORPHA:1475 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Arthritis, Congestive heart failure, Hypertensive crisis, Dyspar... |
ORPHA:220393 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Agitation |
OMIM:619970 |
| Adult Acute Respiratory Distress Syndrome |
|
Hypotension, Diabetic ketoacidosis, Shock, Pancreatitis, Vasculitis |
ORPHA:70578 |
| Serotonin Syndrome |
|
Acute kidney injury, Hypertension, Hypotension, Tachycardia |
ORPHA:43116 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... |
OMIM:133100 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Hyperinsulinemia, Flexion contracture, Insulin resistance, Hepatic steatosis, Failu... |
OMIM:613327 |
| Familial Dysautonomia |
|
Glomerulopathy, Abnormality of the kidney, Hypertension, Hyponatremia, Orthostatic hypotension, R... |
ORPHA:1764 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal corticomedullary cysts, Renal insufficiency |
OMIM:219730 |
| Eisenmenger Syndrome |
|
Atrioventricular canal defect, Aortopulmonary window, Ventricular arrhythmia, Supraventricular ar... |
ORPHA:97214 |
| Genitopalatocardiac Syndrome |
|
Renal cyst, Hypospadias |
OMIM:231060 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Feingold Syndrome Type 1 |
|
Vesicoureteral reflux, Renal dysplasia, Abnormality of the kidney, Interrupted aortic arch, Nephr... |
ORPHA:391641 |
| Ritscher-Schinzel Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Hypospadias, Aortic valve stenosis, Pulmon... |
OMIM:220210 |
| Familial Hyperaldosteronism Type I |
|
Hypokalemia, Intracranial hemorrhage, Hypertension, Epistaxis, Polydipsia |
ORPHA:403 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polycystic kidney dyspl... |
ORPHA:731 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Obesity, Polyphagia |
ORPHA:177910 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Pulmonary arterial hypertension, Conjunctivitis, Tricuspid regurgitation, Nephrotic syndrome, Enl... |
ORPHA:505248 |
| Parathyroid Carcinoma |
|
Nephroblastoma, Renal hamartoma, Hypophosphatemia, Renal cyst, Polydipsia, Hypercalcemia, Dysphag... |
ORPHA:143 |
| Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Decreased response to growth hormone stimulation test, Neonatal hypoglycemi... |
OMIM:606407 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Bradycardia, Tachycardia |
ORPHA:70587 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:617872 |
| Orthostatic Hypotension 1 |
|
Increased blood urea nitrogen, Hypomagnesemia, Nocturia |
OMIM:223360 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy... |
OMIM:611705 |
| Cushing Disease |
|
Recurrent cutaneous fungal infections, Increased urinary cortisol level, Pituitary corticotropic ... |
ORPHA:96253 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
| Hyperuricemia, Hprt-Related |
|
Hyperuricemia, Podagra, Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
| Non-Functioning Pituitary Adenoma |
|
Hypotension, Anterior hypopituitarism, Adrenal insufficiency, Increased circulating gonadotropin ... |
ORPHA:91349 |
| Hyperostosis Frontalis Interna |
|
Diabetes mellitus, Increased circulating prolactin concentration, Obesity |
OMIM:144800 |
| Recombinant Chromosome 8 Syndrome |
|
Pulmonic stenosis, Hydronephrosis |
OMIM:179613 |
| Sepsis In Premature Infants |
|
Hypotension, Enterocolitis, Elevated circulating C-reactive protein concentration, Reversible ren... |
ORPHA:90051 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Renal duplication, Renal dysplasia, Urethral stricture, Hematuria, Urinary bladder inflammation, ... |
ORPHA:79403 |
| Mcleod Syndrome |
|
Dilated cardiomyopathy, Atrial fibrillation, Cardiomyopathy |
OMIM:300842 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
| Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:618349 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Large for gestational age, Neonatal hypoglycem... |
ORPHA:293964 |
| Central Precocious Puberty |
|
Isosexual precocious puberty, Premature thelarche, Overgrowth, Increased circulating gonadotropin... |
ORPHA:759 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kidney disease, Reduc... |
OMIM:610188 |
| Williams-Beuren Region Duplication Syndrome |
|
Chronic otitis media, Decreased response to growth hormone stimulation test, Unilateral renal age... |
OMIM:609757 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Renal cyst, Stillbirth, Renal hypoplasia, Neonatal death |
OMIM:236500 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Decreased circulating aldosterone level, Increased circulating ACTH level, Decreas... |
ORPHA:95409 |
| Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Cystic renal dysplasia, Hypogonadism, Hydronephrosis |
OMIM:615989 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Arrhythmia, Atrioventricular block, Cardiomyopathy |
ORPHA:85447 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Agitation |
OMIM:309548 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... |
OMIM:614473 |
| Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... |
OMIM:618433 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease |
OMIM:617661 |
| Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... |
OMIM:615344 |
| Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... |
ORPHA:231632 |
| Ileal Neuroendocrine Tumor |
|
Hypotension, Arterial occlusion, Cardiogenic shock, Increased serum serotonin, Arrhythmia, Right ... |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Hypotension, Arterial occlusion, Cardiogenic shock, Increased serum serotonin, Arrhythmia, Right ... |
ORPHA:100077 |
| Whipple Disease |
|
Hypotension, Arthritis, Uveitis, Erectile dysfunction, Pericarditis, Myositis, Myocardial infarct... |
ORPHA:3452 |
| Schaaf-Yang Syndrome |
|
Flexion contracture, Hypogonadism, Camptodactyly, Arthrogryposis multiplex congenita, Impulsivity... |
OMIM:615547 |
| Scrub Typhus |
|
Hypotension, Infectious encephalitis, Skin rash, Renal insufficiency, Myocarditis, Anterior uveitis |
ORPHA:83317 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... |
OMIM:274300 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Retrobulbar optic neuritis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:619737 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria |
OMIM:604273 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Abnormal circulating... |
ORPHA:289548 |
| Dent Disease 2 |
|
Aminoaciduria, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis, Hypercal... |
OMIM:300555 |
| Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... |
ORPHA:1686 |
| Acquired Methemoglobinemia |
|
Syncope, Palpitations, Tachycardia, Arrhythmia |
ORPHA:464453 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Tricuspid regurgitation |
OMIM:600151 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Hypertension, Proteinuria, Nephrotic syndrome |
ORPHA:1192 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, Recurrent otitis media, Coarctation of aorta, Renal hypoplasia, Hydron... |
OMIM:618494 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Aortic arch aneurysm, Increased circulating gonadotropin level, Hyperlipidemia, Primary amenorrhe... |
ORPHA:99413 |
| Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation, Bradycardia, Cerebral hemorrhage, Elevated hepat... |
OMIM:617397 |
| Mosaic Monosomy X |
|
Aortic arch aneurysm, Increased circulating gonadotropin level, Hyperlipidemia, Primary amenorrhe... |
ORPHA:99228 |
| Monosomy X |
|
Aortic arch aneurysm, Increased circulating gonadotropin level, Hyperlipidemia, Primary amenorrhe... |
ORPHA:99226 |
| Turner Syndrome |
|
Aortic arch aneurysm, Increased circulating gonadotropin level, Hyperlipidemia, Primary amenorrhe... |
ORPHA:881 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation |
OMIM:618541 |
| Necrotizing Enterocolitis |
|
Hypotension, Abnormal glucose homeostasis, Small for gestational age, Shock, Abnormal heart morph... |
ORPHA:391673 |
| Addison Disease |
|
Thymoma, Hyperuricemia, Decreased circulating aldosterone level, Increased circulating ACTH level... |
ORPHA:85138 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Micropenis, Internal hemorrhage |
ORPHA:335 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... |
ORPHA:26793 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
| Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
| Frasier Syndrome |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:136680 |
| Toluene Embryopathy |
|
Abnormal localization of kidney, Hydronephrosis |
ORPHA:1920 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Abnormal circulating... |
ORPHA:168558 |
| Legionnaires Disease |
|
Endocarditis, Hypotension, Infectious encephalitis, Hepatitis, Hematuria, Pericarditis, Proteinur... |
ORPHA:549 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Tubulointerstitial nephritis, Atrophic gastritis, Iridocyclitis, Hepatitis, Rheumatoid arthritis,... |
ORPHA:227990 |
| Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria |
OMIM:261100 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Elevated carcinoembryonic antigen level, Abnormal circulating protein concentration, Foam cells, ... |
ORPHA:264675 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
| Huntington Disease |
|
Weight loss, Choking episodes, Alcoholism, Agitation, Polyphagia, Disinhibition, Decreased body m... |
ORPHA:399 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... |
OMIM:619755 |
| Toxic Epidermal Necrolysis |
|
Sudden cardiac death, Conjunctivitis, Dysuria, Elevated hepatic transaminase, Gastrointestinal he... |
ORPHA:537 |
| Polysyndactyly With Cardiac Malformation |
|
Renal cyst, Hepatic cysts, Stillbirth |
OMIM:263630 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Impaired sensitivity to thyroid hormone, Omphalocele, Congenital hypot... |
OMIM:614450 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Tubulointerstitial nephritis, Atrophic gastritis, Iridocyclitis, Hepatitis, Rheumatoid arthritis,... |
ORPHA:227982 |
| Frasier Syndrome |
|
Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Hypertension, Proteinuri... |
ORPHA:347 |
| Neuroendocrine Tumor Of Stomach |
|
Hypotension, Facial telangiectasia, Weight loss, Cardiogenic shock, Increased circulating ACTH le... |
ORPHA:100075 |
| Pick Disease Of Brain |
|
Disinhibition, Polyphagia |
OMIM:172700 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Generalized aminoaciduria, Decreased g... |
OMIM:613388 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency |
OMIM:173900 |
| Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency, Vasculitis |
ORPHA:375 |
| Late-Onset Isolated Acth Deficiency |
|
Hypotension, Weight loss, Hepatitis, Decreased circulating ACTH level, Decreased circulating cort... |
ORPHA:199299 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Calcinosis, Decreased renal tubular phosphate excretion, Nephrocalcinosis, Inc... |
OMIM:211900 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Congestive heart... |
ORPHA:324410 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Hypocalcemia, Unilateral ren... |
ORPHA:2237 |
| Cednik Syndrome |
|
Proteinuria, Congestive heart failure, Nephrotic syndrome |
ORPHA:66631 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Microscopic hematuria |
ORPHA:79087 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Renal hypoplasia, Hypertrophic cardiomyopathy, Ketonuria |
OMIM:619053 |
| Joubert Syndrome 37 |
|
Micropenis, Hydronephrosis |
OMIM:619185 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Failure to thrive, Hypospadias, Inguinal hernia, Bradycardia |
OMIM:619272 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
| Glycogen Storage Disease X |
|
Renal insufficiency, Myoglobinuria |
OMIM:261670 |
| Birt-Hogg-Dube Syndrome |
|
Renal cyst, Renal neoplasm, Renal cell carcinoma |
OMIM:135150 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... |
OMIM:618775 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pulmonary insufficiency, Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Conjugated hype... |
OMIM:208500 |
| Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Chronic active hepatitis, Erythema nodosum, Abnormality of the kidn... |
ORPHA:289390 |
| 22Q11.2 Duplication Syndrome |
|
Aplasia/Hypoplasia of the thymus, Interrupted aortic arch, Urethral stenosis, Displacement of the... |
ORPHA:1727 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Elevated pulmonary artery pressure, Bidirectional shunt, Anuria... |
OMIM:619351 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Malar rash, Nephrotic syndrome, Nephritis, Gastrointestinal hemorrhage, Vasculitis |
OMIM:603909 |
| Lassa Fever |
|
Shock, Menometrorrhagia, Oliguria, Conjunctivitis |
ORPHA:99824 |
| Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... |
OMIM:615244 |
| Aneurysm Of Sinus Of Valsalva |
|
Bacterial endocarditis, Heart murmur, Congestive heart failure, Aortic regurgitation, Oliguria, D... |
ORPHA:1054 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Verheij Syndrome |
|
Renal cyst, Renal hypoplasia, Renal agenesis |
OMIM:615583 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Vesicoureteral reflux, Bifid ureter, Renal dysplasia, Renal agenesis, Decreased numbers of nephro... |
OMIM:617641 |
| Wiedemann-Rautenstrauch Syndrome |
|
Dilatation of renal calices, Vesicoureteral reflux, Increased serum estradiol, Increased circulat... |
ORPHA:3455 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Hypokalemia, Increased circulating T4 concentration, Decreased thyroid-stimulati... |
OMIM:613239 |
| Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Restlessness |
OMIM:605899 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Stage 5 chronic kidney disease, Hypertension, Proteinuria, Renal insufficiency, Bilateral renal a... |
OMIM:166300 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Portal hypertension, Hydronephrosis, Megacystis |
OMIM:619431 |
| Marburg Hemorrhagic Fever |
|
Hypotension, Elevated circulating creatine kinase concentration, Pericarditis, Shock, Capillary l... |
ORPHA:99826 |
| Myotonic Dystrophy 2 |
|
Right bundle branch block, Hypogonadism, Type II diabetes mellitus, Elevated circulating creatine... |
OMIM:602668 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hepatic failure, Hypertension, Recurrent otitis media, Absence of renal corticomedullary differen... |
OMIM:619758 |
| Duodenal Neuroendocrine Tumor |
|
Hypotension, Cardiogenic shock, Increased circulating ACTH level, Intestinal carcinoid, Insulinom... |
ORPHA:100076 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia |
OMIM:616521 |
| Lujo Hemorrhagic Fever |
|
Hypotension, Myocarditis, Rhinitis, Maculopapular exanthema, Fulminant hepatitis, Skin rash, Elev... |
ORPHA:319213 |
| Paragangliomas 3 |
|
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia |
OMIM:605373 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Tubulointerstitial nephritis, Aminoaciduria, Lacticaciduria, Cholangitis, Hypertyrosinemia, Neona... |
OMIM:124000 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphoma, Burkitt lymphoma, Decreased circulating antibody level, Lymphocytosis, Pancytopenia, Th... |
OMIM:308240 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Urogenital sinus anomaly, Hypothyroidism, Abnormality of the kidney, Azoospermia, Epispadias, Dec... |
ORPHA:1772 |
| Mirizzi Syndrome |
|
Hyperbilirubinemia, Pancreatitis, Dark urine, Tachycardia |
ORPHA:521219 |
| Duplication Of Urethra |
|
Vesicoureteral reflux, Urinary incontinence, Penile hypospadias, Anuria, Recurrent urinary tract ... |
ORPHA:237 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2668 |
| Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Adrenal insufficiency, Elevated circulating creatine kinase concentr... |
ORPHA:99827 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Obesity, Polyphagia |
ORPHA:411515 |
| Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cortisol level, Decr... |
ORPHA:231625 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Uric acid nephrolithiasis, Crystalluria, Hyperuricemia, Acute kidney injury, Arthritis, Gout, Ren... |
ORPHA:411543 |
| Scalp-Ear-Nipple Syndrome |
|
Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephritis, Hypertension, Type... |
ORPHA:2036 |
| Meningococcal Meningitis |
|
Hypotension, Infectious encephalitis, Skin rash, Shock, Renal insufficiency |
ORPHA:33475 |
| Cranioectodermal Dysplasia 1 |
|
Tubulointerstitial nephritis, Stage 1 chronic kidney disease, Stage 5 chronic kidney disease, Ren... |
OMIM:218330 |
| Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
| Autosomal Dominant Hypocalcemia |
|
Hypotension, Hyperphosphatemia, Congestive heart failure, Eczema, Arrhythmia, Nephrocalcinosis, H... |
ORPHA:428 |
| Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... |
ORPHA:439 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Vesicoureteral reflux, Pulmonic stenosis, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:301056 |
| Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:90673 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaciduria, Low-mole... |
OMIM:134600 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Hypertension, Adrenal hyperplasia, Dorsocervical fat pad, P... |
OMIM:615830 |
| Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:614455 |
| Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Proteinuria, Tachycardia |
ORPHA:35858 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypotension, Urinary bladder sphincter dysfunction, Pollakisuria, Impotence, Hypertension |
ORPHA:93256 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Abnormal localization of kidney,... |
ORPHA:1834 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... |
ORPHA:79644 |
| Halothane Hepatitis |
|
Hepatitis, Viral hepatitis, Jaundice, Obesity |
OMIM:234350 |
| 9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:531151 |
| Cystinuria |
|
Renal insufficiency, Hyperuricemia, Hematuria, Nephrolithiasis |
ORPHA:214 |
| 46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, Ab... |
ORPHA:2973 |
| Homozygous Familial Hypercholesterolemia |
|
Sudden cardiac death, Angina pectoris, Supravalvular aortic stenosis, Abnormal left ventricular f... |
ORPHA:391665 |
| Sheehan Syndrome |
|
Abnormal size of pituitary gland, Hyposthenuria, Gonadotropin deficiency, Decreased serum estradi... |
ORPHA:91355 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Vesicoureteral reflux, Multiple renal cysts |
ORPHA:1166 |
| Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hyperinsulinemia, Increased serum testosterone level, G... |
ORPHA:2298 |
| Summitt Syndrome |
|
Obesity |
OMIM:272350 |
| Kury-Isidor Syndrome |
|
Recurrent otitis media, Hydronephrosis |
OMIM:619762 |
| Panhypophysitis |
|
Hyposthenuria, Hashimoto thyroiditis, Hyponatremia, Orthostatic hypotension, Polydipsia |
ORPHA:95513 |
| D-Glyceric Aciduria |
|
Aminoaciduria, Failure to thrive, Hypoglycemia, Bradycardia, Micropenis |
OMIM:220120 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:608594 |
| Frontotemporal Dementia |
|
Disinhibition, Polyphagia |
OMIM:600274 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased circulating prolactin concentration, Increased pituitary glycoprotein hormone alpha sub... |
ORPHA:90674 |
| Tularemia |
|
Conjunctivitis, Erythema nodosum, Skin rash, Inflammatory abnormality of the eye, Cutaneous absce... |
ORPHA:3392 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency, Cardi... |
OMIM:614922 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, Congestive heart failur... |
ORPHA:49827 |
| Kleefstra Syndrome |
|
Vesicoureteral reflux, Hypoplasia of penis, Coarctation of aorta, Renal cyst, Hypospadias, Chroni... |
ORPHA:261494 |
| Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
| Cutaneous Mastocytoma |
|
Hypotension, Telangiectasia of the skin, Maculopapular exanthema, Telangiectasia macularis erupti... |
ORPHA:79455 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
| Pituitary Apoplexy |
|
Hypotension, Increased circulating prolactin concentration, Decreased response to growth hormone ... |
ORPHA:95613 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Hyperhidrosis, Increased circulating prolactin concentration, Pituitary ... |
OMIM:300942 |
| Microphthalmia, Syndromic 9 |
|
Pulmonary artery atresia, Renal malrotation, Coarctation of aorta, Horseshoe kidney, Pelvic kidne... |
OMIM:601186 |
| Joubert Syndrome 2 |
|
Nephronophthisis, Renal insufficiency, Renal cyst |
OMIM:608091 |
| Hypouricemia, Renal, 2 |
|
Nephrolithiasis, Hypouricemia |
OMIM:612076 |
| Bardet-Biedl Syndrome 6 |
|
Renal cyst, Hypospadias |
OMIM:605231 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Generalized ... |
OMIM:231680 |
| Paragangliomas 1 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Elevated circulating catecho... |
OMIM:168000 |
| Hand-Foot-Genital Syndrome |
|
Vesicoureteral reflux, Pyelonephritis, Hypospadias, Ureteropelvic junction obstruction, Renal ins... |
OMIM:140000 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia |
OMIM:141000 |
| Galloway-Mowat Syndrome 5 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:617731 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Arterial calcification, Arterial occlusion, Decreased serum creatinine, Coronary artery calcifica... |
ORPHA:289601 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal duplication, Aplasia of the bladder, Renal dysplasia, Glomerular sclerosis, Elevated circul... |
ORPHA:158684 |
| Erdheim-Chester Disease |
|
Diabetes insipidus, Osteomyelitis, Dysuria, Skin rash, Congestive heart failure, Hypogonadotropic... |
ORPHA:35687 |
| Grange Syndrome |
|
Carotid artery stenosis, Coronary artery stenosis, Renovascular hypertension, Renal artery stenosis |
OMIM:602531 |
| Tsh-Secreting Pituitary Adenoma |
|
Irregular menstruation, Decreased fertility in females, Female hypogonadism, Hypotension, Impoten... |
ORPHA:91347 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Urethral atresia, Hydronephrosis |
OMIM:314390 |
| Suleiman-El-Hattab Syndrome |
|
Hydronephrosis |
OMIM:618950 |
| Familial Cold Urticaria |
|
Conjunctivitis, Arthritis, Polydipsia |
ORPHA:47045 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pituitary corticotropic cell adenoma, Capillary fragility, Atypical pulmonary carcinoid tumor, Ad... |
ORPHA:99889 |
| Distal Tetrasomy 15Q |
|
Nephroblastoma, Abnormality of the kidney, Polycystic kidney dysplasia, Hypoplastic aortic arch, ... |
ORPHA:314588 |
| Glossopharyngeal Neuralgia |
|
Weight loss, Syncope, Jaw claudication, Bradycardia, Oral-pharyngeal dysphagia |
ORPHA:221098 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Cirrhosis, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:269700 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Hydronephrosis, Fetal megacystis, Megacystis |
OMIM:619362 |
| Trisomy 13 |
|
Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral meatus, Hydronephrosis |
ORPHA:3378 |
| Yellow Fever |
|
Anuria, Reduced left ventricular ejection fraction, Acute kidney injury, Skin rash, Hyperbilirubi... |
ORPHA:99829 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Atrial septal defect |
OMIM:601927 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Hypospadias, Micropenis, Hydronephrosis |
OMIM:616897 |
| Pde4D Haploinsufficiency Syndrome |
|
Hypotension, Elevated circulating parathyroid hormone level, Obesity, Abnormal dental enamel morp... |
ORPHA:439822 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
| Dengue Fever |
|
Hypotension, Cerebral hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Hepatomegaly |
ORPHA:99828 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Diabetes mellitus, Duplicated collecting system, Esophagitis, Decreased serum zinc, Hydronephrosis |
ORPHA:541423 |
| 6Q16 Microdeletion Syndrome |
|
Obesity, Polyphagia |
ORPHA:171829 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Abnormal renal insterstitial morphology, Renal insufficienc... |
OMIM:614227 |
| Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Obesity, Dilated cardiomyopathy, Hypogonadism |
OMIM:615981 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... |
ORPHA:656 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Acute kidney injury, Hemoglobinuria, Glycosuria, Unconjugated hyperbil... |
ORPHA:447 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Hypop... |
ORPHA:3426 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Joint contracture, Bradycardia |
OMIM:614498 |
| Cockayne Syndrome Type 1 |
|
Conjunctivitis, Uveitis, Increased blood urea nitrogen, Proteinuria, Renal insufficiency |
ORPHA:90321 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Ventricular tachycardia, Syncope, Dilated cardiomyopathy |
OMIM:615821 |
| Fabry Disease |
|
Transient ischemic attack, Angina pectoris, Congestive heart failure, Hypertension, Myocardial in... |
OMIM:301500 |
| Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Hypoproteinemia, Hydronephrosis |
ORPHA:2315 |
| Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Ureteral duplication, Hydronephrosis |
OMIM:610733 |
| Aggressive Systemic Mastocytosis |
|
Hypotension, Weight loss, Hypersplenism, Hepatosplenomegaly, Gastrointestinal hemorrhage, Portal ... |
ORPHA:98850 |
| Mungan Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Pulmonic stenosis, Tricuspid regurgitation |
OMIM:611376 |
| Pure Autonomic Failure |
|
Urinary incontinence, Impotence, Dysuria, Syncope, Orthostatic hypotension |
ORPHA:441 |
| Low Phospholipid-Associated Cholelithiasis |
|
Biliary cirrhosis, Liver abscess, Sclerosing cholangitis, Neoplasm of the liver, Hepatocellular c... |
ORPHA:69663 |
| Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
OMIM:202010 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Abnormal heart morphology |
ORPHA:79264 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
| Multiple Myeloma |
|
Nephrotic syndrome, Acute kidney injury, Abnormality of the bladder, Nephropathy, Hypercalcemia, ... |
ORPHA:29073 |
| Cranioectodermal Dysplasia 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:614099 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
| X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Hyperhidrosis, Increased circulating prolactin conc... |
ORPHA:300373 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Glutamine Deficiency, Congenital |
|
Camptodactyly, Flexion contracture, Bradycardia |
OMIM:610015 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Pulmonary arterial hypertension, Aortic regurgitation, Mitral regurgitation, Overweight, Obesity |
OMIM:614651 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruction, Renal dysplasia |
OMIM:601389 |
| Joubert Syndrome 22 |
|
Renal hypoplasia |
OMIM:615665 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Left ventricular hypertrophy,... |
ORPHA:254892 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst, Increased circulating very long-chain fatty acid concentration |
OMIM:614862 |
| Carey-Fineman-Ziter Syndrome |
|
Hypertensive crisis, Glandular hypospadias, Hydronephrosis |
ORPHA:1358 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Obesity |
ORPHA:88643 |
| Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
| Trisomy 17P |
|
Polycystic kidney dysplasia, Hypoplasia of penis, Urethral stenosis, Aortic valve stenosis, Ureth... |
ORPHA:261290 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal blood ion concentration, Abnormality of the bladder, Recurrent skin ... |
ORPHA:79404 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal amyloidosis, Renal insufficiency, Proteinuria |
OMIM:134610 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Hypospadias, Albuminuria, Renal cortical microcysts, Hydronephrosis |
OMIM:214100 |
| Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
| Wolfram Syndrome |
|
Recurrent urinary tract infections, Dysuria, Nephropathy, Gastrointestinal hemorrhage, Abnormalit... |
ORPHA:3463 |
| Gaisböck Syndrome |
|
Hyperuricemia, Increased circulating renin level, Diabetes mellitus, Hypercholesterolemia, Hyperp... |
ORPHA:90041 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... |
OMIM:618733 |
| Lcat Deficiency |
|
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... |
ORPHA:650 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
OMIM:620047 |
| Even-Plus Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Atopic dermatitis, Recurrent urinary tract infections |
OMIM:616854 |
| Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis |
ORPHA:3079 |
| Microsporidiosis |
|
Prostatitis, Myositis, Pneumonia, Lymphadenitis, Endocarditis, Osteomyelitis, Thyroiditis, Cholan... |
ORPHA:2552 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:301006 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Failure to thrive, Bradycardia, Dilated cardiomyopathy |
OMIM:610768 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Periodontitis, Moderate albuminuria, Type I diabetes mellitus, Hydronephrosis |
OMIM:619269 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Congestive heart failure, Cardiac my... |
ORPHA:615 |
| Joubert Syndrome 18 |
|
Renal cyst, Horseshoe kidney |
OMIM:614815 |
| Czeizel-Losonci Syndrome |
|
Abnormality of the urinary system, Ureteral agenesis, Congenital megaureter, Hydronephrosis |
ORPHA:2437 |
| Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
| Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Abnormal circulating insulin concent... |
ORPHA:552 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
| Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Proteinuria, Bilateral renal agenesis, Renal dysplasia |
OMIM:191830 |
| Goodpasture Syndrome |
|
Glomerular crescent formation, Glomerulonephritis, Erythrocyte cylindruria, Cylindruria, Increase... |
OMIM:233450 |
| Infant Botulism |
|
Hypotension, Cardiac arrest, Hypertension, Xerostomia |
ORPHA:178478 |
| Adams-Oliver Syndrome 6 |
|
Renal hypoplasia, Portal hypertension, Tricuspid regurgitation |
OMIM:616589 |
| Glycogen Storage Disease Xi |
|
Renal insufficiency, Myoglobinuria |
OMIM:612933 |
| Primary Hyperoxaluria Type 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... |
ORPHA:93599 |
| Cenani-Lenz Syndactyly Syndrome |
|
Renal hypoplasia, Renal agenesis, Pulmonic stenosis, Ectopic kidney |
OMIM:212780 |
| Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Nephrotic range proteinuria, Septic arthritis, Anuria, Acute kidney injury, Decreased urine outpu... |
ORPHA:544482 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Hypovolemia, Ketonuria, Glycosuria, Moderate albuminuria, Abnormality of the upper urinary tract,... |
ORPHA:99885 |
| Sarcoidosis |
|
Tubulointerstitial nephritis, Bronchiectasis, Erythema nodosum, Keratoconjunctivitis sicca, Uveit... |
ORPHA:797 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
| 16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Abnormal tricuspid valve morphology, Abnormal heart morphology, Atrial septal defect |
ORPHA:485405 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ... |
ORPHA:2970 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Pulmonary arterial hypertension, Recurrent pancreatitis, Pulmonary arteriovenous malformation, Hy... |
OMIM:606721 |
| Cach Syndrome |
|
Secondary amenorrhea, Premature ovarian insufficiency, Optic neuritis, Primary amenorrhea, Renal ... |
ORPHA:135 |
| Diffuse Cutaneous Mastocytosis |
|
Hypotension, Abnormality of the liver, Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of ... |
ORPHA:79456 |
| Zaki Syndrome |
|
Renal agenesis, Hydronephrosis |
OMIM:619648 |
| Al-Gazali Syndrome |
|
Recurrent pneumonia, Hydronephrosis |
OMIM:609465 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Hydronephrosis |
OMIM:619179 |
| Bartter Syndrome Type 4 |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, ... |
ORPHA:89938 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
| Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Hepatic cysts, Abnormality of the kidney, Polycystic kidney dysplasia, ... |
ORPHA:1505 |
| Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine |
OMIM:232600 |
| Hepatic Veno-Occlusive Disease |
|
Jaundice, Hepatomegaly, Increased body weight |
ORPHA:890 |
| Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... |
ORPHA:1652 |
| Beta-Ketothiolase Deficiency |
|
Hypotension, Weight loss, Hypertension, Hypoglycemia, Hepatomegaly, Hyperglycemia |
ORPHA:134 |
| Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria |
OMIM:260000 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
| Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Renal agenesis, Hypoplasia of penis, Ectopic kidney, Hypospadias, A... |
ORPHA:887 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Hydronephrosis |
ORPHA:364028 |
| 3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Aortic valve stenosis, Pulmonic stenosis, Adrenal hypoplasia, H... |
ORPHA:7 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Urinary incontinence, Pineal cyst, Decreased serum creatinine, Decreased HDL cholesterol concentr... |
OMIM:618885 |
| Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis |
OMIM:311900 |
| Alagille Syndrome 1 |
|
Vesicoureteral reflux, Hypertriglyceridemia, Multiple small medullary renal cysts, Renal tubular ... |
OMIM:118450 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Recurrent pneumonia, Hypospadias, Hydronephrosis |
OMIM:616449 |
| Nail-Patella Syndrome |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Abnormality of the kidney, Arthritis, Hematur... |
ORPHA:2614 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Polyphagia, Hypoplasia of penis |
ORPHA:228402 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia, Partial development of the penile shaft |
OMIM:608800 |
| Renal Agenesis |
|
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena... |
ORPHA:411709 |
| Rabson-Mendenhall Syndrome |
|
Increased C-peptide level, Hypokalemia, Long penis, Nephrocalcinosis, Polydipsia, Cardiomyopathy |
ORPHA:769 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Mucopolysacchariduria, Nephrotic syndrome |
OMIM:215250 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
| Micro Syndrome |
|
Delayed puberty, Hypoplasia of penis, Abnormal localization of kidney, Hydronephrosis |
ORPHA:2510 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Micropenis, Hypogonadism, Hydronephrosis |
OMIM:612513 |
| Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Renal duplication, Hypothyroidism, Hypospadias, Ureteral duplication, Hydr... |
ORPHA:96169 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypotension, Decreased circulating aldosterone level, Decreased circulating cortisol level, Long ... |
ORPHA:90794 |
| Visceral Myopathy 1 |
|
Vesicoureteral reflux, Urinary retention, Megacystis, Pancreatitis, Hydronephrosis |
OMIM:155310 |
| Zttk Syndrome |
|
Aortic regurgitation, Horseshoe kidney, Polyuria, Unilateral renal agenesis |
OMIM:617140 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Premature ventricular contraction, Bacterial endocarditis, Heart block |
ORPHA:1964 |
| Tempi Syndrome |
|
Telangiectasia, Increased hematocrit, Abnormality of the kidney, Intracranial hemorrhage, Polycyt... |
ORPHA:284227 |
| Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus |
OMIM:266810 |
| Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Peripheral pulmonary artery stenosis, Hydronephrosis |
OMIM:613001 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Decreased circulating renin level, Hypokalemia, Primary hyperaldosteronism |
OMIM:615474 |
| Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Diabetes mellitus, Shock, Increased circulating procalcitonin concentration |
ORPHA:36238 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Increased circulating antibody level, Lymphocytosis, Decreased proportion of C... |
ORPHA:169154 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Renal hypoplasia, Hypoplasia of penis |
ORPHA:2256 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal T-wave, Hyperphosphatemia, Hepatic failure, Acute kidney injury, Sinus tach... |
ORPHA:466650 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Hypogonadism, Hypothalamic luteinizing hormone-releas... |
ORPHA:398079 |
| Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Weight loss, Failure to thrive, Polyphagia, Cholestasis, Primary hypothyr... |
ORPHA:95427 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypothyroidism, Renal dysplasia, Hypoplasia of penis, Telangiectasia of the skin, Renal hypoplasi... |
ORPHA:85321 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Renal cyst, Proximal tubulopathy, Hypoalbuminemia |
OMIM:602579 |
| Graft Versus Host Disease |
|
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Hyperbilirubinemia, Inf... |
ORPHA:39812 |
| Inhalational Anthrax |
|
Hypotension, Internal hemorrhage |
ORPHA:247257 |
| Dent Disease 1 |
|
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly... |
OMIM:300009 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thyroid lymphangiectasia, Hypoproteinemia, Hypocalcemia, Micropenis, Hydronephrosis |
OMIM:235255 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Weight loss, Cardiac arrest, Jaundice, Nonketotic hypoglycemia, Dilated cardiomyopat... |
ORPHA:20 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Myositis, Thyroiditis, Keratoconjunctivitis sicca |
ORPHA:79078 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis |
ORPHA:457193 |
| Meckel Syndrome, Type 10 |
|
Renal cyst, Hypospadias, Micropenis |
OMIM:614175 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia, Recurrent skin infections |
OMIM:617744 |
| Bresek Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia |
ORPHA:85284 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Vesicoureteral reflux, Hypoplasia of the bladder, Crossed fused renal ectopia, Valvular pulmonary... |
OMIM:300707 |
| Cebalid Syndrome |
|
Congenital diaphragmatic hernia, Polyphagia |
OMIM:618774 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnesemia, Hypocalci... |
OMIM:145981 |
| Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Horseshoe kidney, Hydronephrosis |
ORPHA:93260 |
| Orofaciodigital Syndrome Xvii |
|
Renal hypoplasia, Micropenis |
OMIM:617926 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Flexion contracture, Hypogonadism, Hypothalamic lutei... |
ORPHA:398069 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension, Abnormal size of pituitary gland, Decreased response to growth hormone stimulation t... |
ORPHA:293978 |
| Zellweger Syndrome |
|
Hypospadias, Multicystic kidney dysplasia, Primary adrenal insufficiency, Hydronephrosis |
ORPHA:912 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Renal insufficiency, Hypospadias, Hydronephrosis |
OMIM:611209 |
| Degcags Syndrome |
|
Pulmonary arterial hypertension, Abnormal renal cortex morphology, Rhinitis, Abnormal renal medul... |
OMIM:619488 |
| Proximal Spinal Muscular Atrophy |
|
Knee flexion contracture, Flexion contracture, Multiple joint contractures, Elbow flexion contrac... |
ORPHA:70 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Elevated circulating creatine kinase concentration, Neurogenic bladder, Congestive heart failure,... |
OMIM:608779 |
| Fryns Syndrome |
|
Vesicoureteral reflux, Abnormal aortic morphology, Multicystic kidney dysplasia, Abnormal aortic ... |
ORPHA:2059 |
| Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Renal insufficiency, Myoglobinuria |
ORPHA:2364 |
| Hardikar Syndrome |
|
Vesicoureteral reflux, Hepatic failure, Hypoplasia of the bladder, Decreased liver function, Prol... |
OMIM:301068 |
| Cat Eye Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Horseshoe kidney, Pulmonic stenosis, Hydronephrosis |
OMIM:115470 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Renal dysplasia, Hydro... |
OMIM:146510 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormal serum bile acid concentration, Hyperbilirubinemia, Renal cyst, Giant cell hepatitis, Dar... |
ORPHA:79303 |
| Duane-Radial Ray Syndrome |
|
Vesicoureteral reflux, Crossed fused renal ectopia, Renal malrotation, Renal agenesis, Horseshoe ... |
OMIM:607323 |
| Zygomycosis |
|
Fasciitis, Pericarditis, Gastritis, Colitis, Hematemesis, Endocarditis, Enterocolitis, Infectious... |
ORPHA:73263 |
| Microphthalmia, Lenz Type |
|
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis |
ORPHA:568 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage |
OMIM:603585 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Hypogonadism, Aortic regurgitation, Mitral regurgitation, Hydroneph... |
ORPHA:261349 |
| Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Delayed puberty, Obesity, Hypogonadism |
ORPHA:141333 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Vesicoureteral reflux, Eczema, Pseudohypoparathyroidism, Renal hypoplasia, Abnormality of the end... |
ORPHA:464288 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:98793 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Thyroid hypoplasia, Hypoglycemia, Decreased circulating T4 concentration, Decreased circulating f... |
ORPHA:226307 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Pulmonary arterial hypertension, Enterocolitis, Bronchiectasis, Inflammatory abnormality of the s... |
ORPHA:391487 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Obesity, Myocardial infarction, Hypertension |
OMIM:618620 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Igg4-Related Pachymeningitis |
|
Lymphadenitis, Nephritis, Sinusitis, Parotitis, Elevated circulating C-reactive protein concentra... |
ORPHA:449427 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:177904 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Pancreatic cysts, Renal dysplasia, Acute kidney injury, Stage 5 chronic kidney disease, Cholangit... |
OMIM:266920 |
| Congenital Enterovirus Infection |
|
Hypotension, Hepatitis, Cholestasis, Myocarditis, Cardiomyopathy |
ORPHA:292 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
| Khan-Khan-Katsanis Syndrome |
|
Vesicoureteral reflux, Tricuspid regurgitation, Renal cyst, Renal hypoplasia, Ureteral duplicatio... |
OMIM:618460 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abnormality of the kidney, Proteinuria, Hypertrophic cardiomyopathy |
ORPHA:369 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Renal insufficiency, Proteinuria |
ORPHA:1307 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:177901 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hydronephrosis |
OMIM:104350 |
| Acute Monoblastic/Monocytic Leukemia |
|
Central hypothyroidism, Oliguria |
ORPHA:514 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Ven... |
OMIM:300952 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Type II diabetes mellitus, Hypertension, Myocardial infarction, Truncal obesity, Hyperglycemia, A... |
OMIM:615812 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia, Abnormal renal morphology, Micropenis, Hydronephrosis |
ORPHA:1655 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hyperhidrosis, Flexion contracture, Ventricular septal defect, Corneal scarri... |
OMIM:614653 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Erythroderma, Hydronephrosis |
ORPHA:35173 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Erythroderma, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol, Hydronephrosis |
OMIM:302960 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria |
OMIM:268200 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal hemorrhage, Telangiectasia, Punctate vasculitis skin lesions, Raynaud phenomenon, Hematur... |
OMIM:192315 |
| Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Recurrent hypoglycemia, Decreased... |
ORPHA:94086 |
| 15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Nephroblastoma, Pulmonary arterial hypertension, Tricuspid regurgitation... |
ORPHA:314585 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Ventricular escape rhy... |
ORPHA:98855 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Vesicoureteral reflux, Hydronephrosis, Thyroid lymphangiectasia, Erysipelas, Ectopic kidney, Hors... |
OMIM:235510 |
| Familial Adenomatous Polyposis 4 |
|
Renal cyst, Ovarian cyst |
OMIM:617100 |
| Penile Agenesis |
|
Absent penis, Bilateral renal agenesis, Urethral fistula, Hydroureter, Cystic renal dysplasia, Ma... |
ORPHA:49 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Myoglobinuria, Dicarboxylic aciduria, Dilated cardiomyopathy |
OMIM:231530 |
| Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyo... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyo... |
ORPHA:98853 |
| Congenital Myopathy 17 |
|
Renal hypoplasia, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:618975 |
| Cockayne Syndrome Type 3 |
|
Aortic root aneurysm, Cardiomyopathy, Retinal hemorrhage, Urinary retention, Neurogenic bladder, ... |
ORPHA:90324 |
| Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:398073 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Stag... |
OMIM:614527 |
| Transketolase Deficiency |
|
Conjunctivitis, Increased level of ribose in urine, Uveitis, Renal cyst, Elevated circulating rib... |
ORPHA:488618 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| Mastocytosis |
|
Hypotension, Arrhythmia, Hepatomegaly, Telangiectasia of the skin, Gastrointestinal hemorrhage, S... |
ORPHA:98292 |
| Carpenter Syndrome 1 |
|
Hydroureter, Precocious puberty, Pulmonic stenosis, Hydronephrosis |
OMIM:201000 |
| Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormality of the ureter, Abnormal localization of kidney, Hydronephrosis |
ORPHA:1225 |
| Man1B1-Cdg |
|
Polyphagia, Truncal obesity |
ORPHA:397941 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Heart murmur, Interrupted aortic arch, Hyperbilirubinemia, Intracranial hemorrhage, Hypospadias, ... |
ORPHA:163979 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ureteral stenosis, Horseshoe kidney, Hydronephrosis |
OMIM:272950 |
| Lysosomal Acid Lipase Deficiency |
|
Abnormal urine potassium concentration, Hypotension, Pulmonary arterial hypertension, Hepatic fai... |
ORPHA:275761 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Vesicoureteral reflux, Renal dysplasia, Bladder trabeculation, Ureteral hypoplasia, Ureteral dupl... |
OMIM:614080 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Vesicoureteral reflux, Abnormal cardiac ventricular function, Recurrent urinary tract infections,... |
ORPHA:90349 |
| Cardiac Valvular Dysplasia 1 |
|
Hydronephrosis, Left aortic arch with cervical origin of the right subclavian artery, Valvular pu... |
OMIM:212093 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Cerebral ischemia, Hypog... |
ORPHA:54595 |
| Galloway-Mowat Syndrome 10 |
|
Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial sclerosis, Pr... |
OMIM:619609 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Pulmonary arterial hypertension, Vesicoureteral reflux, Microphallus, Coarctation of aorta, Renal... |
OMIM:618454 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Polydipsia |
ORPHA:3157 |
| Trisomy 20P |
|
Abnormality of the kidney, Abnormality of the ureter, Hypospadias, Multiple renal cysts, Abnormal... |
ORPHA:261318 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity |
OMIM:604931 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Prote... |
OMIM:256550 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Horseshoe kidney, Recurrent skin infections, Nephrolithiasis, Functional abnormality of the bladd... |
ORPHA:2953 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
| Mckusick-Kaufman Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Urethral strict... |
ORPHA:2473 |
| Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:96061 |
| Galloway-Mowat Syndrome 4 |
|
Congenital nephrotic syndrome, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesang... |
OMIM:617730 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Dysuria, Hydronephrosis |
ORPHA:101000 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Aortic valve stenosis, Hydronephrosis |
ORPHA:210122 |
| Takenouchi-Kosaki Syndrome |
|
Pulmonic stenosis, Hypospadias, Unilateral renal agenesis, Hydronephrosis |
OMIM:616737 |
| Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Pyelonephritis, Unilateral renal agenesis, Congestive heart failure... |
OMIM:181270 |
| Hepatocellular Carcinoma |
|
Hypotension, Abnormality of the liver, Weight loss, Liver abscess, Type II diabetes mellitus, Hep... |
ORPHA:88673 |
| Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
| Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave, Ascending tubular aorta aneurysm, Ureteropelvic junction obstruction, Hydronephr... |
ORPHA:444072 |
| Hellp Syndrome |
|
Hypotension, Cerebral hemorrhage, Acute kidney injury, Hemoglobinuria, Elevated hepatic transamin... |
ORPHA:244242 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Secondary amenorrhea, Accelerated atherosclerosis, Ventricular arrhythmia, Supraventricular arrhy... |
ORPHA:280365 |
| Nijmegen Breakage Syndrome |
|
Bronchiectasis, Recurrent urinary tract infections, Premature ovarian insufficiency, Recurrent ot... |
OMIM:251260 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia, Congenital foot contractures, Neonatal hypoglycemia |
ORPHA:565624 |
| Koolen-De Vries Syndrome |
|
Aortic root aneurysm, Vesicoureteral reflux, Recurrent urinary tract infections, Eczema, Pulmonic... |
OMIM:610443 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Hydronephrosis |
OMIM:617798 |
| Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:618348 |
| Hennekam-Beemer Syndrome |
|
Camptodactyly of finger, Hypotension, Failure to thrive, Arrhythmia, Telangiectasia of the skin |
ORPHA:2135 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Increased circulating T4 concentration... |
OMIM:609152 |
| Pelvis-Shoulder Dysplasia |
|
Hydronephrosis |
ORPHA:2839 |
| Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Diffuse mesangial scl... |
OMIM:256300 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Telangiectasia, Hydronephrosis |
ORPHA:247262 |
| 1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Interrupted aortic arch, Hydronephrosis |
ORPHA:250989 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Vesicoureteral reflux, Heart murmur, Pelvic kidney, Micropenis, Hydronephrosis |
OMIM:618653 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Chromosome 22Q13 Duplication Syndrome |
|
Impulsivity, Attention deficit hyperactivity disorder, Polyphagia |
OMIM:615538 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Renal hypoplasia, Vesicoureteral reflux, Mitral stenosis, Aortic valve stenosis |
OMIM:617660 |
| Listeriosis |
|
Endocarditis, Septic arthritis, Conjunctivitis, Osteomyelitis, Infectious encephalitis, Acute kid... |
ORPHA:533 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria |
OMIM:616026 |
| Alexander Disease |
|
Sudden cardiac death, Hypothyroidism, Hyperhidrosis, Precocious puberty, Hypotension, Hypertensio... |
ORPHA:58 |
| Wagro Syndrome |
|
Hypertension, Agitation, Polyphagia, Proteinuria, Obesity |
OMIM:612469 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic cysts, Enlarged kidney, Cystic renal dysplasia, Stillbirth |
OMIM:615415 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Renal insufficiency |
ORPHA:445038 |
| Stromme Syndrome |
|
Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Abnormality of the urinary system, Precocious puberty, Micropenis, Hydronephrosis |
ORPHA:96092 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Renal hypoplasia, Posterior pituitary hypoplasia, Abnormality of the anterior pituitary, Pulmonar... |
ORPHA:75389 |
| Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia, Decreased response to growth hormone stimulation test |
OMIM:617784 |
| Gangliocytoma |
|
Hyperhidrosis, Adrenocorticotropic hormone excess, Pituitary null cell adenoma, Abnormal prolacti... |
ORPHA:251937 |
| Tuberous Sclerosis 2 |
|
Hypothyroidism, Precocious puberty, Renal angiomyolipoma, Renal cell carcinoma, Wolff-Parkinson-W... |
OMIM:613254 |
| Au-Kline Syndrome |
|
Aortic root aneurysm, Vesicoureteral reflux, Hydronephrosis, Hypertension, Dilatation of the rena... |
OMIM:616580 |
| Thakker-Donnai Syndrome |
|
Hydronephrosis |
ORPHA:1780 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Pulmonary arterial hypertension, Hypoplasia of the thymus, Perianal abscess, Recurrent urinary tr... |
OMIM:612541 |
| Marden-Walker Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia/aplasia, Abnormality of the kidne... |
ORPHA:2461 |
| 15q26 overgrowth syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia, Renal agenesis, Du... |
DECIPHER:81 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Glycosuria, Nephropathy, Nephrocalcinosis, Proteinuria |
OMIM:613404 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Impaired myocardial contractility, Thyrotoxicosis with toxic single thyroid... |
ORPHA:79102 |
| Leprechaunism |
|
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Hypokalemia, Increased circulating ... |
ORPHA:508 |
| Leptospirosis |
|
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Acute kidney injury, Hepatitis, Jaundice, ... |
ORPHA:509 |
| Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mes... |
OMIM:617575 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Weight loss, Syncope, Tachycardia, Hepatomegaly, Splenomegaly |
ORPHA:98849 |
| Galloway-Mowat Syndrome 6 |
|
Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:618347 |
| Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Hypospadias, Hypocalcemia, Hydronephrosis |
OMIM:300712 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypothyroidism, Decreased circulating T4 concentra... |
OMIM:608104 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Urinary retention, Bilateral wrist flexion contracture, Sever... |
ORPHA:97297 |
| Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Multiple renal cysts, Horseshoe kidney, Hydronephrosis |
ORPHA:99776 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Polycystic kidney dysplasia, Decreased plasma c... |
ORPHA:26791 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria, Cardiomyopathy |
ORPHA:119 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Hematuria, Abnormal ren... |
OMIM:308940 |
| Vacterl Association With Hydrocephalus |
|
Renal hypoplasia |
OMIM:276950 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Eczema, Recurrent otitis media |
OMIM:619774 |
| Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Bladder diverticulum, Decreased circulating co... |
OMIM:304150 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Neoplasm of the skin, Reticulocytosis... |
ORPHA:3261 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Renal agenesis, Proteinuria, Chronic kidney dis... |
ORPHA:261222 |
| Cornelia De Lange Syndrome 1 |
|
Vesicoureteral reflux, Renal cyst, Reduced renal corticomedullary differentiation, Hypospadias, E... |
OMIM:122470 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Stage 5 chronic kidney disease, Proteinuria |
OMIM:219900 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Abnormality of the kidney, Hypoplasia of penis, Infectious en... |
ORPHA:847 |
| Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia |
OMIM:607361 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Transient ischemic attack, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis |
ORPHA:2995 |
| Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis |
ORPHA:1988 |
| Holoprosencephaly 3 |
|
Central diabetes insipidus, Hydronephrosis |
OMIM:142945 |
| Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Hematuria, Proteinuria, Gastrointestinal hemorrhage, Renal insufficiency, Vasculitis |
ORPHA:91138 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escap... |
ORPHA:98863 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hypocalcemic tetany, Abnormality of renal excretion, Enthesitis, Hyperph... |
ORPHA:289176 |
| Gabriele-De Vries Syndrome |
|
Aortopulmonary collateral arteries, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:617557 |
| Trisomy 18P |
|
Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:1715 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Hyperechogenic kidneys, Renal hypoplasia, Bilateral renal agenesis |
OMIM:617914 |
| Stiff-Person Syndrome |
|
Tachycardia, Hypertension |
OMIM:184850 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Renal cyst, Multicystic kidney dysplasia |
ORPHA:2031 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaconic aciduria, Jaundice, Neonatal hypoglycemia, Failure to thrive, Dysphagia, 3-Met... |
OMIM:617248 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Pulmonary arterial hypertension, Aortic root aneurysm, Congenital megaureter, Recurrent aspiratio... |
ORPHA:280633 |
| Bardet-Biedl Syndrome |
|
Multicystic kidney dysplasia, Hypoplasia of penis, Nephrotic syndrome |
ORPHA:110 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pulmonary arterial hypertension, Renal tubular acidosis, Proximal renal tubular acidosis, Distal ... |
ORPHA:2785 |
| Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:218700 |
| Fanconi Anemia, Complementation Group I |
|
Vesicoureteral reflux, Hypothyroidism, Decreased response to growth hormone stimulation test, Hor... |
OMIM:609053 |
| Brain-Lung-Thyroid Syndrome |
|
Pulmonary arterial hypertension, Vesicoureteral reflux, Hyperactivity, Recurrent pneumonia, Hypos... |
ORPHA:209905 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Abnormality of thyroid physiology, Renal dysplasia |
OMIM:300968 |
| Matthew-Wood Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Horseshoe kidney |
ORPHA:2470 |
| 17Q12 Microdeletion Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Multicystic kidney dysplasia, Ureterocele |
ORPHA:261265 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Aplastic anemia, Splenomegaly, Dec... |
ORPHA:2442 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ... |
OMIM:146255 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Hematuria, Proteinuria |
ORPHA:1765 |
| Autosomal Dominant Cutis Laxa |
|
Bronchiectasis, Aortic aneurysm, Bladder diverticulum, Pyelonephritis, Unilateral renal agenesis,... |
ORPHA:90348 |
| Bardet-Biedl Syndrome 8 |
|
Obesity, Hypogonadism |
OMIM:615985 |
| Neuroendocrine Neoplasm Of Appendix |
|
Hypotension, Adrenocorticotropic hormone excess, Heart murmur, Increased serum serotonin, Primary... |
ORPHA:100079 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Reduced ratio of renal calcium clearance to creatinine clearance, Paratho... |
ORPHA:405 |
| Fraser Syndrome 2 |
|
Aplasia of the bladder, Renal agenesis, Renal hypoplasia |
OMIM:617666 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Ureteropelvic junction obstruction, Peripheral pulmonary artery ste... |
OMIM:280000 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Hydronephrosis |
ORPHA:254528 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypertrophic cardiomyopathy, Proteinuria, Renal Fan... |
ORPHA:436271 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Reactive hypoglycemia |
OMIM:600955 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Hypertension, Proteinuria, Renal insufficiency, Chronic otitis medi... |
ORPHA:2750 |
| Poliomyelitis |
|
Hypotension, Myelitis, Hypertension, Hypovolemic shock, Infectious encephalitis |
ORPHA:2912 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Recurrent pneumonia, Hypospadias, Male urethral meatus stenosis,... |
ORPHA:464738 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Cardiac arrest, Pulmonary artery dilatation, Hypercholesterolemia, Conjugated hyperbilirubinemia,... |
OMIM:619534 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Posterior pituitary hypoplasia, Unilateral renal agenesis, Renal cyst, Aortic regurgitation, Hypo... |
ORPHA:464311 |
| Cystic Echinococcosis |
|
Hyperbilirubinemia, Renal cyst, Hepatic cysts, Ovarian cyst, Membranous nephropathy |
ORPHA:400 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Pulmonary arterial hypertension, Ischemic stroke, Cerebral ischemia,... |
ORPHA:1830 |
| Campomelic Dysplasia |
|
Hydronephrosis |
ORPHA:140 |
| Mckusick-Kaufman Syndrome |
|
Hydroureter, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis |
OMIM:236700 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypothyroidism, Hypertension, Abnormality of the endocrine system, Diabetes mellitus, Abnormality... |
ORPHA:77296 |
| Kabuki Syndrome |
|
Precocious puberty, Crossed fused renal ectopia, Renal hypoplasia/aplasia, Hypoplasia of penis, C... |
ORPHA:2322 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... |
ORPHA:555874 |
| Oculopharyngodistal Myopathy 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Paroxysmal atrial fibrillation |
OMIM:164310 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:618321 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hydroureter, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Hypercalciuria |
OMIM:615398 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vesicoureteral reflux, Hypothyroidism, Ascending tubular aorta aneurysm, Abnormality of bladder m... |
ORPHA:453499 |
| Eec Syndrome |
|
Vesicoureteral reflux, Urethral atresia, Hypoplasia of the thymus, Decreased response to growth h... |
ORPHA:1896 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Proteinuria, Membranoproliferative glomerulonephritis |
OMIM:619858 |
| Non-Acquired Panhypopituitarism |
|
Hypotension, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:90695 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Vesicoureteral reflux, Decreased response to growth hormone stimulation test, Renal dysplasia, Hy... |
OMIM:604292 |
| Acute Interstitial Pneumonia |
|
Hypertension, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot... |
ORPHA:79126 |
| Prader-Willi Syndrome |
|
Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Adre... |
OMIM:176270 |
| Steinert Myotonic Dystrophy |
|
Supraventricular tachycardia, Dilated cardiomyopathy, Cardiac conduction abnormality, Left ventri... |
ORPHA:273 |
| Truncus Arteriosus |
|
Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pulmonic sten... |
ORPHA:3384 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Renal agenesis, Micropenis, Hydronephrosis |
OMIM:301040 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G... |
ORPHA:3337 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Anterior pituitary hypoplasia, Unilateral renal agenesis, Eczema, Renal cyst, Aortic regurgitatio... |
ORPHA:464306 |
| Exstrophy-Epispadias Complex |
|
Vesicoureteral reflux, Urinary incontinence, Renal duplication, Bladder exstrophy, Absent penis, ... |
ORPHA:322 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Polycystic kidney dysplasia |
OMIM:608776 |
| Pseudohypoparathyroidism Type 1C |
|
Enamel hypoplasia, Decreased response to growth hormone stimulation test, Low urinary cyclic AMP ... |
ORPHA:79444 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Telangiectasia of the s... |
ORPHA:2092 |
| Peroxisome Biogenesis Disorder 1B |
|
Renal cyst, Hyperoxaluria |
OMIM:601539 |
| Encephalitis Lethargica |
|
Urinary incontinence, Bradycardia |
ORPHA:83600 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Renal cyst, Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias |
OMIM:614091 |
| Meckel Syndrome 12 |
|
Renal hypoplasia, Ureteral hypoplasia, Bilateral renal agenesis |
OMIM:616258 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Hyperhidrosis |
OMIM:608643 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Thyroid hypoplasia, Elevated 8(9)-cholestenol, Unilateral renal agenesis, Elevated 8-dehydrochole... |
OMIM:308050 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Diabetes mellitus, Obesity, Absence of pubertal development |
OMIM:610628 |
| Ogden Syndrome |
|
Pulmonary arterial hypertension, Torsade de pointes, Supraventricular tachycardia, Enlarged kidne... |
OMIM:300855 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:99832 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Renal cyst, Ovarian dermoid cyst |
ORPHA:480536 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria, Arrhythmia |
ORPHA:57 |
| Meckel Syndrome, Type 4 |
|
Renal cyst |
OMIM:611134 |
| Smith-Lemli-Opitz Syndrome |
|
Precocious puberty, Eczema, Renal agenesis, Unilateral renal agenesis, Hypertension, Coarctation ... |
OMIM:270400 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Atrioventricular canal defect, Right atrial isomerism, Double outlet ... |
OMIM:270100 |
| 7Q11.23 Microduplication Syndrome |
|
Enuresis, Aortic aneurysm, Unilateral renal agenesis, Hypospadias, Aortic valve stenosis, Chronic... |
ORPHA:96121 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypogonadism, Type II diabetes mellitus, Eunuchoid habitus, Abnormality of the thyroid gland, Obe... |
ORPHA:2234 |
| Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism |
OMIM:603233 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypertrophic cardiomyopathy, Proteinuria, Renal Fan... |
OMIM:220110 |
| Raine Syndrome |
|
Hydroureter, Hypophosphatemia, Hydronephrosis |
OMIM:259775 |
| Opitz Gbbb Syndrome |
|
Aortic root aneurysm, Vesicoureteral reflux, Recurrent aspiration pneumonia, Thyroglossal cyst, C... |
ORPHA:2745 |
| Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Hydronephrosis |
OMIM:305620 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hypertrophic cardiomyopathy, Atopic dermatitis, Pulmonic stenosis, Hydronephrosis |
OMIM:115150 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Type I diabetes mellitus, Joint contracture, Arthrogryposis multiplex congen... |
OMIM:618397 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperkalemia, Elevated hepatic transaminase, Polyphagia, Hyperlipidemia, Hyponatremia, Enuresis, ... |
ORPHA:293987 |
| Luscan-Lumish Syndrome |
|
Obesity, Polyphagia |
OMIM:616831 |
| White-Kernohan Syndrome |
|
Hypothyroidism, Hydroureter, Recurrent otitis media, Horseshoe kidney, Hydronephrosis |
OMIM:619426 |
| 12Q14 Microdeletion Syndrome |
|
Renal hypoplasia, Diabetes mellitus, Horseshoe kidney, Ectopic kidney |
ORPHA:94063 |
| Carney Triad |
|
Tachycardia, Hypertension, Gastrointestinal hemorrhage, Arrhythmia |
ORPHA:139411 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Perimembranous ventricular septal defect, Paroxysmal supraventricular tachycardia, Arrhythmia, Tr... |
OMIM:617877 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis |
OMIM:271520 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Hepatomegaly, Tricuspid regurgitation, ... |
ORPHA:99125 |
| Meckel Syndrome, Type 6 |
|
Renal cyst, Hepatic cysts, Horseshoe kidney, Aplasia of the bladder |
OMIM:612284 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
| Cardiofaciocutaneous Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Hydronephrosis |
ORPHA:1340 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Proteinuria |
OMIM:619428 |
| Glycogen Storage Disease Ii |
|
Subarachnoid hemorrhage, Urinary incontinence, Right axis deviation, Sinus tachycardia, Wolff-Par... |
OMIM:232300 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic ki... |
OMIM:208540 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Interrupted aortic arch, Patent urachus, Tachycardia, Penoscrotal hypospadias, M... |
OMIM:618280 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis... |
OMIM:300554 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Nephrotic syndrome, Glomerular sclerosis, Hypertrophic cardiomyopathy, Proteinuria, Focal segment... |
OMIM:607426 |
| Branchiootorenal Syndrome 1 |
|
Renal steatosis, Vesicoureteral reflux, Renal dysplasia, Renal malrotation, Polycystic kidney dys... |
OMIM:113650 |
| Oeis Complex |
|
Vesicovaginal fistula, Hydroureter, Renal agenesis, Epispadias, Duplicated collecting system, Pel... |
OMIM:258040 |
| Trisomy 8P |
|
Heart murmur, Fetal pyelectasis, Peripheral pulmonary artery stenosis, Nephrocalcinosis, Micropen... |
ORPHA:264450 |
| Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria |
ORPHA:98895 |
| Free Sialic Acid Storage Disease |
|
Proteinuria, Nephrotic syndrome |
ORPHA:834 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Tricuspid regurgitation, Enlarged kidney, Ureteral hypoplasia, Hypopla... |
ORPHA:79328 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary arterial hypertension, Pulmonary insufficiency, Hydroureter, Interrupted aortic arch, P... |
OMIM:265380 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Vesicoureteral reflux, Decreased response to growth hormone stimulation test, Renal dysplasia, Hy... |
OMIM:129900 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Vesicoureteral reflux, Hypospadias, Renal atrophy |
OMIM:618659 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
| Ulnar-Mammary Syndrome |
|
Decreased fertility, Hypoplasia of penis, Delayed puberty, Arrhythmia, Renal hypoplasia |
ORPHA:3138 |
| Otopalatodigital Syndrome Type 2 |
|
Ureteral obstruction, Hypospadias, Hydronephrosis |
ORPHA:90652 |
| Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... |
OMIM:619652 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hydronephrosis, Hypoplasia of the thymus, Multiple bladder diverticula, Recurrent pneumonia, Peri... |
OMIM:613177 |
| Pseudohypoparathyroidism Type 1A |
|
Enamel hypoplasia, Decreased response to growth hormone stimulation test, Low urinary cyclic AMP ... |
ORPHA:79443 |
| Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Abnormal urinary color |
ORPHA:90035 |
| Meckel Syndrome, Type 7 |
|
Stage 5 chronic kidney disease, Multicystic kidney dysplasia, Pancreatic cysts, Multiple glomerul... |
OMIM:267010 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Hypothyroidism, Abnormal circulating lipid concentration, Unilateral renal agenesis, Dilated card... |
OMIM:616541 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia |
OMIM:619980 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anterior pituita... |
ORPHA:1435 |
| Liver Disease, Severe Congenital |
|
Aminoaciduria, Systolic heart murmur, Eczema, Hyperinsulinemic hypoglycemia, Elevated circulating... |
OMIM:619991 |
| Distal Monosomy 12Q |
|
Late onset atopic dermatitis, Vesicoureteral reflux, Polycystic kidney dysplasia, Pituitary adeno... |
ORPHA:96149 |
| Schimke Immunoosseous Dysplasia |
|
Pulmonary arterial hypertension, Cerebral ischemia, Nephrotic syndrome, Stage 5 chronic kidney di... |
OMIM:242900 |
| Angelman Syndrome |
|
Precocious puberty in females, Hyperactivity, Polyphagia, Dysphagia, Obesity, Delayed menarche |
ORPHA:72 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
| Cousin Syndrome |
|
Hydronephrosis |
OMIM:260660 |
| 3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Hydronephrosis |
OMIM:257920 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia, Renal agenesis |
OMIM:220500 |
| Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst, Conjunctivitis |
OMIM:615560 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Enuresis nocturna, Heart mu... |
OMIM:615873 |
| Tetrasomy 9P |
|
Pulmonary arterial hypertension, Juxtaductal coarctation of the aorta, Recurrent urinary tract in... |
ORPHA:3310 |
| Sickle Cell Anemia |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Osteomyelitis |
ORPHA:232 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Dilated cardiomyopathy, Aortic regurgitation, Renovascular hypertensio... |
ORPHA:401923 |
| Aneurysm-Osteoarthritis Syndrome |
|
Left ventricular hypertrophy, Aortic regurgitation, Mitral regurgitation, Abnormal heart morpholo... |
ORPHA:284984 |
| Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypertension, Glomerular scle... |
OMIM:619487 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Renal duplication, Right ventricular outlet tract obstruction, Nephrocalcinosis, Nephrolithiasis,... |
OMIM:268310 |
| Wilson Disease |
|
Cirrhosis, Weight loss, Hepatitis, Jaundice, Hepatic steatosis, Failure to thrive, Hepatomegaly, ... |
ORPHA:905 |
| Aorta Coarctation |
|
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... |
ORPHA:1457 |
| Harrod Syndrome |
|
Hypospadias, Multicystic kidney dysplasia |
ORPHA:2115 |
| Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis |
ORPHA:2886 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Micropenis, Restlessness, Ventricular septal defect, Polyphagia |
ORPHA:251028 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Disinhibition, Polyphagia, Agitation |
OMIM:607485 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
| Rh Deficiency Syndrome |
|
Tachycardia, Hepatosplenomegaly |
ORPHA:71275 |
| Melnick-Needles Syndrome |
|
Pulmonary arterial hypertension, Ureteral stenosis, Recurrent otitis media, Hydronephrosis |
OMIM:309350 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Cardiomyopathy, Myoglobinuria, Red-brown urine, Arrhythmia |
ORPHA:228305 |
| Apert Syndrome |
|
Acne, Overriding aorta, Chronic otitis media, Hydronephrosis |
OMIM:101200 |
| Peutz-Jeghers Syndrome |
|
Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts, Enlarged polycystic ovaries |
ORPHA:2869 |
| Diaphanospondylodysostosis |
|
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis |
OMIM:608022 |
| Simpson-Golabi-Behmel Syndrome |
|
Nephroblastoma, Cardiomyopathy, Multicystic kidney dysplasia, Hydroureter, Bundle branch block, H... |
ORPHA:373 |
| Williams-Beuren Syndrome |
|
Hypothyroidism, Coronary artery stenosis, Supravalvular aortic stenosis, Peripheral pulmonary art... |
OMIM:194050 |
| Monosomy 22Q13.3 |
|
Vesicoureteral reflux, Renal dysplasia, Recurrent skin infections, Recurrent pyelonephritis, Hydr... |
ORPHA:48652 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Renal duplication, Cardiomyopathy, Precocious puberty, Decreased response ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Vesicoureteral reflux, Renal duplication, Cardiomyopathy, Precocious puberty, Decreased response ... |
ORPHA:363958 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight |
ORPHA:589905 |
| Digeorge Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Renal dysplasia, Interrupted aortic arch, Hypocalcemia,... |
OMIM:188400 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Renal cyst, Horseshoe kidney |
ORPHA:166035 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Impulsivity, Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation |
OMIM:261990 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Telangiectasia, Abnormality of the liver, Abnormal cardi... |
ORPHA:1606 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Elevated circulating creatine kinase concentration, Multicystic kidney dysplasia, Micropenis, Hyd... |
OMIM:615287 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Hypospadias, Junctional ectopic tachycardia, Arrhythmia, Overriding ... |
OMIM:309801 |
| Trisomy 18 |
|
Abnormality of the upper urinary tract, Hydronephrosis |
ORPHA:3380 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Vesicoureteral reflux, Vascular ring, Recurrent urinary tract infections, Coarctation of aorta, H... |
ORPHA:353281 |
| Tuberous Sclerosis 1 |
|
Hypothyroidism, Precocious puberty, Renal angiomyolipoma, Renal cell carcinoma, Wolff-Parkinson-W... |
OMIM:191100 |
| Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Small vessel vasculitis, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:36412 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Hydronephrosis, Nephrotic syndrome, Aortic regurgitation, Mitral regurgitation, Recurrent skin in... |
OMIM:601776 |
| Robinow Syndrome |
|
Multicystic kidney dysplasia, Webbed penis, Coarctation of aorta, Micropenis, Decreased serum tes... |
ORPHA:97360 |
| Fanconi Anemia, Complementation Group F |
|
Vesicoureteral reflux, Decreased response to growth hormone stimulation test, Microphallus, Pelvi... |
OMIM:603467 |
| Fabry Disease |
|
Glomerulopathy, Mucosal telangiectasiae, Nephrotic syndrome, Transient ischemic attack, Abnormal ... |
ORPHA:324 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Polycystic kidney dysplasia, Elevated circulating long chain fatty acid concentration |
OMIM:214110 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Proximal tubulopathy, Nephrotic syndrome, Renal cyst, Pericarditis, Hypocholesterolemia, Proteinu... |
OMIM:212065 |
| Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Eczema, Coarctation of aorta, Aortic valve stenosis, Hydronephrosis |
ORPHA:2308 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Large for gestational age, Overgrowth, Omphalocele, Umbilical hernia |
ORPHA:254534 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Polyphagia, Micropenis |
OMIM:156200 |
| Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Exercise-induced myoglobinuria,... |
OMIM:201475 |
| Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Multicystic kidney dysplasia |
ORPHA:2075 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced myoglobinuria, Renal insufficiency |
OMIM:300653 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Proteinuria |
ORPHA:69126 |
| Dubowitz Syndrome |
|
Hypospadias, Hypoparathyroidism, Eczema, Hydronephrosis |
ORPHA:235 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Congenital hypothyroidism, Neurogenic bladder, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:616973 |
| Floating-Harbor Syndrome |
|
Precocious puberty, Congenital posterior urethral valve, Stage 5 chronic kidney disease, Polycyst... |
ORPHA:2044 |
| Glycogen Storage Disease Ia |
|
Enlarged kidney, Hypertension, Decreased glomerular filtration rate, Proteinuria, Focal segmental... |
OMIM:232200 |
| Split Cord Malformation |
|
Urinary incontinence, Renal duplication, Detrusor sphincter dyssynergia, Neurogenic bladder, Hypo... |
ORPHA:573278 |
| Chime Syndrome |
|
Abnormality of the kidney, Hydronephrosis |
ORPHA:3474 |
| Radio-Renal Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia |
ORPHA:3015 |
| Autosomal Recessive Robinow Syndrome |
|
Abnormal aortic morphology, Multicystic kidney dysplasia, Hypoplasia of penis, Chronic otitis med... |
ORPHA:1507 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:95494 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Hydroureter, Multicystic kidney dysplasia, Megacystis |
ORPHA:2241 |
| Vater/Vacterl Association |
|
Vesicoureteral reflux, Renal dysplasia, Renal agenesis, Patent urachus, Ectopic kidney, Hypospadi... |
OMIM:192350 |
| Joubert Syndrome 14 |
|
Renal cyst |
OMIM:614424 |
| Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Abnormality of the endocrine system, Unilateral renal agenesis, Hydronephrosis |
ORPHA:487796 |
| Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrop... |
OMIM:613795 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria |
OMIM:614231 |
| Acute Liver Failure |
|
Hypotension, Adrenal insufficiency, Hepatic necrosis, Hepatocellular necrosis, Jaundice, Hepatiti... |
ORPHA:90062 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Renal cyst, Horseshoe kidney |
OMIM:250410 |
| Acquired Generalized Lipodystrophy |
|
Abnormal cardiovascular system physiology, Proteinuria, Hypertension, Cardiomyopathy |
ORPHA:79086 |
| Osteogenesis Imperfecta, Type Vii |
|
Absent pulmonary artery, Hydronephrosis |
OMIM:610682 |
| Glycogen Storage Disease Ic |
|
Pulmonary arterial hypertension, Spider hemangioma, Hematuria, Hypertension, Decreased glomerular... |
OMIM:232240 |
| Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hemolytic-uremic syndrome, Methylmalonic aciduria, Cystathioninuria, Hematuria, Nephropathy, Prot... |
OMIM:277400 |
| Joubert Syndrome 21 |
|
Renal cyst, Hyperechogenic kidneys |
OMIM:615636 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Exercise-induced myoglobinuria |
ORPHA:352479 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Hydroureter, Hypospadias, Ureteral stenosis, Micropenis, Hydronephrosis |
OMIM:269150 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urinary incontinence, Renal agenesis, Urethral stricture, Hypospadias, Grade III vesicoureteral r... |
OMIM:619522 |
| Legius Syndrome |
|
Nephroblastoma, Paroxysmal atrial tachycardia, Male urethral meatus stenosis, Nephrolithiasis, Pu... |
ORPHA:137605 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
| Charge Syndrome |
|
Vesicoureteral reflux, Aortic arch aneurysm, Anterior hypopituitarism, Interrupted aortic arch, D... |
ORPHA:138 |
| Frontometaphyseal Dysplasia |
|
Ureteral obstruction, Urethral stenosis, Hydronephrosis |
ORPHA:1826 |
| Abcd Syndrome |
|
Neonatal death, Large for gestational age |
OMIM:600501 |
| Schinzel-Giedion Syndrome |
|
Nephroblastoma, Central hypothyroidism, Renal cyst, Recurrent pneumonia, Abnormality of the urete... |
ORPHA:798 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Hepatitis, Polycystic kidney dysplasia, Renal cyst, Increased circulating thyro... |
OMIM:610199 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Hypothyroidism, Aortic aneurysm, Hydronephrosis |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Vesicoureteral reflux, Hypothyroidism, Aortic aneurysm, Hydronephrosis |
ORPHA:352665 |
| Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
| Spondyloenchondrodysplasia |
|
Raynaud phenomenon, Hematuria, Chronic kidney disease, Hypertension, Proteinuria, Vasculitis |
ORPHA:1855 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Dilated cardiomyopathy, Myoglobinuria, Congestive heart failure, Arrhythmia |
OMIM:609015 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Heart murmur, Multiple bladder diverticula |
ORPHA:2728 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:617866 |
| Knobloch Syndrome 1 |
|
Renal duplication, Bifid ureter, Duplicated collecting system, Hydronephrosis |
OMIM:267750 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscopic hematuria |
OMIM:619525 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Increased circulating ACTH level, Pituitary adenoma, Hypertension, Ob... |
OMIM:219090 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Exercise-induced myoglobinuria, Abnormal left ventricular function, Dilated cardiomyopathy |
OMIM:607155 |
| Tatton-Brown-Rahman Syndrome |
|
Aortic root aneurysm, Neuroendocrine neoplasm, Supraventricular tachycardia with an accessory con... |
ORPHA:404443 |
| Adnp Syndrome |
|
Urinary incontinence, Inguinal hernia, Attention deficit hyperactivity disorder, Polyphagia, Trun... |
ORPHA:404448 |
| Pseudotrisomy 13 Syndrome |
|
Renal agenesis, Coarctation of aorta, Renal hypoplasia, Micropenis, Adrenal hypoplasia |
OMIM:264480 |
| Neurofibromatosis, Type I |
|
Parathyroid adenoma, Hypertension, Renal artery stenosis, Pheochromocytoma |
OMIM:162200 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Congenital megaureter, Renal dysplasia, Renal cyst, Hypercalcemia, Abnormality of the urinary sys... |
ORPHA:369837 |
| Okamoto Syndrome |
|
Urinary incontinence, Ureteropelvic junction obstruction, Aortic valve stenosis, Unilateral renal... |
ORPHA:2729 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothalamic gonadotropin-rel... |
ORPHA:2235 |
| Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
| Weaver Syndrome |
|
Joint contracture of the hand, Camptodactyly, Inguinal hernia, Polyphagia, Umbilical hernia |
OMIM:277590 |
| Lacrimoauriculodentodigital Syndrome |
|
Vesicoureteral reflux, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Corneal neova... |
ORPHA:2363 |
| Plague |
|
Lymphadenitis, Endocarditis, Hypotension, Enterocolitis, Erythema nodosum, Skin rash, Inflammator... |
ORPHA:707 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Cardiomyopathy, Hepatic fibrosis, Cirrhosis, Portal fibrosis, Hepatic steatosis, Failure to thriv... |
ORPHA:264580 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Supraventricular arrhythmia |
ORPHA:420492 |
| Fryns Syndrome |
|
Renal agenesis, Renal cyst, Hypospadias, Ureteral duplication, Hydronephrosis |
OMIM:229850 |
| Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Obesity, Low pulse pressure |
ORPHA:86816 |
| Smith-Lemli-Opitz Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias, Uretero... |
ORPHA:818 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Myoglobinuria |
ORPHA:713 |
| Glycogen Storage Disease Ib |
|
Enlarged kidney, Hypertension, Decreased glomerular filtration rate, Proteinuria, Focal segmental... |
OMIM:232220 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Duplication of renal pelvis, Hypothyroidism, Ureteral duplication |
ORPHA:457212 |
| Mosaic Trisomy 1 |
|
Renal cyst, Penile hypospadias, Renal cortical cysts, Micropenis |
ORPHA:1692 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency, Focal segmenta... |
OMIM:254900 |
| Von Hippel-Lindau Syndrome |
|
Renal cell carcinoma, Pancreatic cysts, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormality of the anterior pituitary, Vesicoureteral reflux, Increased circulating prolactin con... |
ORPHA:438213 |
| Floating-Harbor Syndrome |
|
Congenital posterior urethral valve, Recurrent otitis media, Coarctation of aorta, Hypospadias, N... |
OMIM:136140 |
| Charge Syndrome |
|
Hypothyroidism, Gonadotropin deficiency, Decreased response to growth hormone stimulation test, P... |
OMIM:214800 |
| Galloway-Mowat Syndrome 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hypertension, Glomerular sclerosis, Diffuse m... |
OMIM:617729 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
| Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
| Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria |
OMIM:300559 |
| Agel Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Stage 5 chronic kidney disease, Arrhythmia,... |
ORPHA:85448 |
| Arboleda-Tham Syndrome |
|
Conjunctivitis, Recurrent aspiration pneumonia, Recurrent urinary tract infections, Pulmonic sten... |
OMIM:616268 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Renal hypoplasia/aplasia, Hypertrophic cardiomyopathy, Mitral regurgitation, Sinusitis, Abnormal ... |
ORPHA:363700 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Moderate albuminuria, Hematuria,... |
ORPHA:95455 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Chronic kidney disease |
ORPHA:284426 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Nephroblastoma, Multicystic kidney dysplasia, Renal cyst, Hypospadias, Micropenis |
OMIM:257300 |
| Glycogen Storage Disease Vii |
|
Exercise-induced myoglobinuria |
OMIM:232800 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal cyst, Renal dysplasia |
OMIM:617260 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Conjunctivitis, Scleritis, Abnormality of the kidney, Abnormality of the upper urinary tract, Hyd... |
ORPHA:2273 |
| Kabuki Syndrome 1 |
|
Premature thelarche, Crossed fused renal ectopia, Recurrent aspiration pneumonia, Recurrent otiti... |
OMIM:147920 |
| Nk-Cell Enteropathy |
|
Increased T cell count, Lymphoproliferative disorder, Intestinal polyp |
ORPHA:263665 |
| Dysbetalipoproteinemia |
|
Hypothyroidism, Angina pectoris, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Hepato... |
ORPHA:412 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating progesterone, Elevated circulating 17-hydroxyprogesterone concentration, De... |
OMIM:201750 |
| 2Q37 Microdeletion Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia, Eczema |
ORPHA:1001 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Hypertension, Proteinuria |
OMIM:610965 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Eczema, Superficial dermal perivascular inflammatory infiltrate, Micropenis, Seborrheic dermatiti... |
ORPHA:83617 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormality of the kidney, Abnormality of the upper urinary tract, Hydroureter, Abnormal calcium-... |
ORPHA:2636 |
| Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
| Alveolar Echinococcosis |
|
Pancreatic cysts, Cutaneous abscess, Cholangitis, Renal cyst, Abnormality of bladder morphology, ... |
ORPHA:284 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Bicuspi... |
OMIM:607872 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Polydipsia |
ORPHA:91351 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal cyst, Renal hypoplasia, Stillbirth |
OMIM:616300 |
| Syndromic Diarrhea |
|
Hypothyroidism, Abnormality of iron homeostasis, Hypoplasia of the thymus, Polycystic kidney dysp... |
ORPHA:84064 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Obesi... |
ORPHA:209902 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated circulating phytanic acid concentration, Polycystic kidney dysplasia, Increased circulat... |
OMIM:614866 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Vesicoureteral reflux, Vascular ring, Recurrent urinary tract infections, Abnormality of the kidn... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Vesicoureteral reflux, Vascular ring, Recurrent urinary tract infections, Abnormality of the kidn... |
ORPHA:353277 |
| Early-Onset Schizophrenia |
|
Addictive behavior, Restlessness, Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:96369 |
| Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Increased body weight |
OMIM:182290 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Cystic renal dysplasia |
OMIM:200995 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Polycystic kidney dysplasia, Micropenis, Renal dysplasia |
OMIM:613091 |
| Melas |
|
Pulmonary arterial hypertension, Proximal tubulopathy, Concentric hypertrophic cardiomyopathy, Wo... |
ORPHA:550 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria |
ORPHA:86818 |
| Malakoplakia |
|
Dysuria, Urinary urgency, Hematuria, Urinary bladder inflammation, Proteinuria, Urinary hesitancy |
ORPHA:556 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged QT interval... |
ORPHA:71212 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3301 |
| Doors Syndrome |
|
Aspiration pneumonia, Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Con... |
ORPHA:79500 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Renal duplication, Right ventricular outlet tract obstruction, Micropenis, Hydronephrosis |
OMIM:180700 |
| Joubert Syndrome 1 |
|
Renal cyst, Nephropathy |
OMIM:213300 |
| Galloway-Mowat Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:2065 |
| Atelosteogenesis Type I |
|
Multiple renal cysts |
ORPHA:1190 |
| Thauvin-Robinet-Faivre Syndrome |
|
Nephroblastoma, Bifid ureter, Renal dysplasia, Renal malrotation, Renal cyst |
OMIM:617107 |
| Sotos Syndrome |
|
Decreased fertility, Vesicoureteral reflux, Hypothyroidism, Congenital posterior urethral valve, ... |
ORPHA:821 |
| Majeed Syndrome |
|
Glomerulopathy, Proteinuria, Microscopic hematuria |
ORPHA:77297 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Supraventricular arrhythmia |
ORPHA:2959 |
| Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia |
ORPHA:1454 |
| Gabriele-De Vries Syndrome |
|
Hypothyroidism, Ureteropelvic junction obstruction, Decreased response to growth hormone stimulat... |
ORPHA:506358 |
| Johanson-Blizzard Syndrome |
|
Hypothyroidism, Increased VLDL cholesterol concentration, Urethrovaginal fistula, Dilated cardiom... |
OMIM:243800 |
| Peters Plus Syndrome |
|
Renal duplication, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Pulmonic stenosis, Ant... |
ORPHA:709 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Renal hypoplasia, Hypoplasia of the ovary, Azotemia, Micropenis |
OMIM:619321 |
| Martin-Probst Syndrome |
|
Telangiectasia, Proteinuria, Renal insufficiency, Micropenis, Chordee |
OMIM:300519 |
| Tuberous Sclerosis Complex |
|
Renal angiomyolipoma, Stage 5 chronic kidney disease, Abnormality of the kidney, Polycystic kidne... |
ORPHA:805 |
| Familial Mediterranean Fever |
|
Nephrotic syndrome, Pericarditis, Myocardial infarction, Nephropathy, Arrhythmia, Nephrocalcinosi... |
ORPHA:342 |
| Idiopathic Hypereosinophilic Syndrome |
|
Pulmonary embolism, Transient ischemic attack, Supraventricular arrhythmia, Raynaud phenomenon, C... |
ORPHA:3260 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Ketotic hypoglycemia, Hepatocellular carcinoma, Recurrent hypoglycem... |
ORPHA:79240 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Urethrovaginal fistula, Hypoplasia of penis, Renal cyst, Renal hypoplasia, Hydronephrosis |
ORPHA:93271 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria, Palpitations |
OMIM:255125 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Inguinal hernia, Bradycardia, Pulmonary insufficiency, Congenital diaphragmatic hernia |
OMIM:614437 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria |
OMIM:251900 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:261197 |
| Caroli Disease |
|
Polycystic kidney dysplasia, Abnormal circulating alpha-fetoprotein concentration, Conjugated hyp... |
ORPHA:53035 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Enlarged kidney, Multiple renal cysts |
ORPHA:464329 |
| Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Vesicoureteral reflux, Polycystic kidney dysplasia |
OMIM:606232 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Pearson Syndrome |
|
Hyperalaninemia, Glycosuria, Hypophosphatemia, Hypokalemia, Hypocalcemia, Lacticaciduria, Renal c... |
ORPHA:699 |
| Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Proteinuria, Hematuria |
ORPHA:77259 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Aminoaciduria, Glomerulopathy, Hypercholesterolemia, Hyponatremia, Nephrolithiasis, Periodontitis... |
ORPHA:534 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Left bundle branch block, Ventricular bigeminy, Arrhythmia |
OMIM:610131 |
| 17Q11 Microdeletion Syndrome |
|
Pulmonary arterial hypertension, Glomus jugular tumor, Precocious puberty, Hypertension, Pheochro... |
ORPHA:97685 |
| Lymphangioleiomyomatosis |
|
Renal angiomyolipoma, Hematuria, Renal neoplasm, Abnormal urinary color, Multiple renal cysts |
ORPHA:538 |
| Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Vascular ring, Coarctation of aorta, Hypospadias, Aortic isthmus hypoplasia,... |
OMIM:180849 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Premature ventricular contraction |
OMIM:617072 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
| Immunoglobulin A Vasculitis |
|
Glomerulopathy, Hematuria, Proteinuria, Gastrointestinal hemorrhage, Renal insufficiency, Vasculitis |
ORPHA:761 |
| D-Bifunctional Protein Deficiency |
|
Renal cyst, Increased circulating very long-chain fatty acid concentration |
OMIM:261515 |
| Nail-Patella Syndrome |
|
Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency |
OMIM:161200 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Nephroblastoma, Cardiomyopathy, Enlarged kidney, Pancreatic islet-cell hyperplasia, Renal cyst, D... |
OMIM:312870 |
| Campomelic Dysplasia |
|
Hypospadias, Hydronephrosis |
OMIM:114290 |
| Alström Syndrome |
|
Myocardial fibrosis, Hepatic steatosis, Hepatosplenomegaly, Glomerulonephritis, Dorsocervical fat... |
ORPHA:64 |
| Postinfectious Vasculitis |
|
Ischemic stroke, Cerebral vasculitis, Hematuria, Membranoproliferative glomerulonephritis, Raynau... |
ORPHA:48435 |
| Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria |
OMIM:222448 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal dysplasia, Renal hypoplasia/apla... |
ORPHA:2538 |
| Sotos Syndrome |
|
Neonatal hypoglycemia, Overgrowth, Tall stature, Prolonged neonatal jaundice, Glucose intolerance... |
OMIM:117550 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Adrenal gland dysgenesis, Hydronephrosis |
OMIM:236680 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Stage 5 chronic kidney disease, Hematuria, Nephropathy, Proteinuria, Chronic kidney disease |
ORPHA:1018 |
| Caroli Syndrome |
|
Abnormality of the kidney, Polycystic kidney dysplasia, Hyperbilirubinemia, Cholangitis, Pancreat... |
ORPHA:480520 |
| Pierson Syndrome |
|
Retinal hemorrhage, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypertension, Diffuse mes... |
OMIM:609049 |
| Coffin-Siris Syndrome 1 |
|
Hydroureter, Ectopic kidney, Hypospadias, Renal hypoplasia, Hydronephrosis |
OMIM:135900 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Mild proteinuria, Hypospadias |
OMIM:619147 |
| Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Hypertension, Hypospadias, Renovascular hypertension, Renal arte... |
ORPHA:3472 |
| Focal Dermal Hypoplasia |
|
Telangiectasia, Bifid ureter, Horseshoe kidney, Ureteral duplication, Hydronephrosis |
OMIM:305600 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria, Cardiomyopathy |
ORPHA:206549 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Urinary incontinence, Sinus bradycardia, Dysphagia |
OMIM:619482 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hydronephrosis, Renal dysplasia, Abnormal circulating thyroid hormone concentration, Delayed pube... |
ORPHA:480880 |
| Wilson Disease |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Increased urinary copper... |
OMIM:277900 |
| Von Hippel-Lindau Disease |
|
Pancreatic cysts, Elevated urinary catecholamines, Renal cell carcinoma, Epididymal cyst, Multipl... |
ORPHA:892 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Mild proteinuria |
OMIM:619685 |
| Meckel Syndrome 14 |
|
Polycystic kidney dysplasia |
OMIM:619879 |
| Kawasaki Disease |
|
Congestive heart failure, Pericarditis, Sterile pyuria, Arrhythmia, Proteinuria, Myocarditis, Vas... |
ORPHA:2331 |
| Genitopatellar Syndrome |
|
Hypothyroidism, Multicystic kidney dysplasia, Micropenis, Hydronephrosis |
OMIM:606170 |
| Short-Rib Thoracic Dysplasia 12 |
|
Renal hypoplasia, Neonatal death, Cystic renal dysplasia |
OMIM:269860 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Urinary incontinence, Renal duplication, Vesicoureteral reflux, Multicystic kidney dysplasia, Hyd... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Urinary incontinence, Renal duplication, Vesicoureteral reflux, Multicystic kidney dysplasia, Hyd... |
ORPHA:2152 |
| Viss Syndrome |
|
Pulmonary arterial hypertension, Hypothyroidism, Aortic root aneurysm, Ascending tubular aorta an... |
OMIM:619472 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hypertension, Epistaxis, Proteinuria, Pulmonary ... |
ORPHA:79259 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| Peters-Plus Syndrome |
|
Hydronephrosis, Hypospadias, Renal hypoplasia, Pulmonic stenosis, Ureteral duplication |
OMIM:261540 |
| Galloway-Mowat Syndrome 1 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Renal insufficiency, Focal segmenta... |
OMIM:251300 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Myoglobinuria, Renal tubular acidosis, Cardiomyopathy |
ORPHA:370 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Urinary incontinence, Renal duplication, Vesicoureteral reflux, Multicystic kidney dysplasia, Hyd... |
ORPHA:261552 |
| Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Displacement of the urethral meatus |
ORPHA:1556 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
| Lymphatic Filariasis |
|
Nephrotic syndrome, Abnormality of the kidney, Hematuria, Glomerulonephritis, Proteinuria, Urethr... |
ORPHA:2035 |
| Hajdu-Cheney Syndrome |
|
Renal cyst, Polycystic kidney dysplasia, Hypospadias |
OMIM:102500 |
| Relapsing Polychondritis |
|
Glomerulopathy, Large vessel vasculitis, Hematuria, Pericarditis, Proteinuria, Renal insufficienc... |
ORPHA:728 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux |
OMIM:619377 |
| Pure Mitochondrial Myopathy |
|
Recurrent myoglobinuria |
ORPHA:254854 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:1393 |
| Acrorenal-Mandibular Syndrome |
|
Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Aplasia of the bladder |
OMIM:200980 |
| Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Dilatation of the sinus of Valsalva, Hydronephrosis |
OMIM:304120 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Renal cyst, Vesicoureteral reflux, Hypospadias |
OMIM:616975 |
| Cranioectodermal Dysplasia 2 |
|
Hyperbilirubinemia, Cholangitis, Renal cyst, Recurrent pneumonia, Renal insufficiency |
OMIM:613610 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Renal malrotation, Enlarged kidney |
ORPHA:500095 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria |
OMIM:194380 |
| Cerebrocostomandibular Syndrome |
|
Renal cyst, Horseshoe kidney, Ectopic kidney |
OMIM:117650 |
| Orofaciodigital Syndrome I |
|
Pancreatic cysts, Polycystic kidney dysplasia, Hepatic cysts, Ovarian cyst, Proteinuria |
OMIM:311200 |
| Carney Complex |
|
Increased circulating prolactin concentration, Precocious puberty, Increased circulating cortisol... |
ORPHA:1359 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Congenital megaureter, Enlarged kidney, Elevated circulati... |
ORPHA:116 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria |
OMIM:300908 |
| Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Proteinuria, Hematuria |
ORPHA:77261 |
| Pagod Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:991 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Micropenis |
OMIM:263520 |
| Cockayne Syndrome B |
|
Hypertension, Proteinuria, Arrhythmia, Renal insufficiency, Micropenis |
OMIM:133540 |
| Cockayne Syndrome A |
|
Hypertension, Proteinuria, Arrhythmia, Renal insufficiency, Micropenis |
OMIM:216400 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Renal cyst, Hypospadias, Keratoconjunctivitis sicca |
ORPHA:495875 |
| Cockayne Syndrome |
|
Urinary incontinence, Retinal hemorrhage, Nephrotic syndrome, Neurogenic bladder, Unilateral rena... |
ORPHA:191 |
| Holoprosencephaly |
|
Abnormality of the urinary system, Proteinuria, Hypoplasia of penis, Arrhythmia |
ORPHA:2162 |
| Trisomy 10P |
|
Abnormality of the kidney, Multiple renal cysts |
ORPHA:171929 |
| Williams Syndrome |
|
Sudden cardiac death, Abnormality of the bladder, Supravalvular aortic stenosis, Hypertrophic car... |
ORPHA:904 |
| Aymé-Gripp Syndrome |
|
Pericarditis, Proteinuria |
ORPHA:1272 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Polycystic kidney dysplasia, Hyperbilirubinemia, Renal cyst, Stillbirth, Renal hypoplasia, Microp... |
OMIM:210710 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia |
ORPHA:1052 |
| Bardet-Biedl Syndrome 20 |
|
Proteinuria, Micropenis |
OMIM:619471 |
| Meckel Syndrome |
|
Pancreatic cysts, Urethral atresia, Multicystic kidney dysplasia, Ureteral duplication |
ORPHA:564 |
| Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Polycystic kidney dysplasia, Cystic renal dysplasia, Renal agenesis, E... |
OMIM:249000 |
| 22Q11.2 Deletion Syndrome |
|
Vesicoureteral reflux, Arthritis, Polycystic kidney dysplasia, Hypospadias, Multiple renal cysts,... |
ORPHA:567 |
| Distal Monosomy 15Q |
|
Abnormal localization of kidney, Hypospadias, Multicystic kidney dysplasia, Micropenis |
ORPHA:1596 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Unilateral renal agenesis, Eczema,... |
OMIM:308205 |
| Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Stage 5 chronic kidney disease, Hyperphosphaturia, Proximal renal tubular acidosis... |
OMIM:309000 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinuria, Ren... |
OMIM:614748 |
| Townes-Brocks Syndrome |
|
Vesicoureteral reflux, Urethral valve, Abnormality of the kidney, Hypoplasia of penis, Ectopic ki... |
ORPHA:857 |
| Roberts Syndrome |
|
Polycystic kidney dysplasia, Long penis |
ORPHA:3103 |
| Femoral-Facial Syndrome |
|
Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Renal agenesis, Micropenis |
OMIM:134780 |
| C Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney |
ORPHA:1308 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Mitral regurgitation, Proteinuria, Focal segmental glomerulosclerosis, Tricuspid regurgitation |
OMIM:619127 |
| Townes-Brocks Syndrome 1 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Urethral valve, Renal dysplasia, Hypospadias... |
OMIM:107480 |
| Marshall-Smith Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Dysplastic aortic valve, Hypertension... |
OMIM:602535 |
| Glycogen Storage Disease Xii |
|
Hemoglobinuria |
OMIM:611881 |
| Gaucher Disease |
|
Pulmonary arterial hypertension, Proteinuria, Hematuria |
ORPHA:355 |
| Fraser Syndrome |
|
Urethral atresia, Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Renal hypoplasia |
ORPHA:2052 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Cerebral hemorrhage |
OMIM:616682 |
| Ulbright-Hodes Syndrome |
|
Renal hypoplasia, Polycystic kidney dysplasia, Abnormal penis morphology |
ORPHA:3404 |
| Proteus Syndrome |
|
Renal cyst, Enlarged polycystic ovaries, Long penis |
ORPHA:744 |
| Branchiooculofacial Syndrome |
|
Renal cyst, Hypospadias, Renal agenesis |
OMIM:113620 |
| Roberts-Sc Phocomelia Syndrome |
|
Polycystic kidney dysplasia, Long penis, Hypospadias, Horseshoe kidney, Stillbirth |
OMIM:268300 |
| Craniofacial Microsomia |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Ureteropelvi... |
OMIM:164210 |
| Pmm2-Cdg |
|
Aspiration pneumonia, Nephrotic syndrome, Abnormal renal tubule morphology, Pericarditis, Multipl... |
ORPHA:79318 |
| Pallister-Killian Syndrome |
|
Renal cyst, Hypospadias, Stillbirth, Renal dysplasia |
OMIM:601803 |
