Hereditary Xanthinuria |
|
Uric acid nephrolithiasis, Crystalluria, Sulfite oxidase deficiency, Recurrent urinary tract infe... |
ORPHA:3467 |
Xanthinuria, Type Ii |
|
Hyperxanthinemia, Increased urinary hypoxanthine, Hypouricemia, Xanthinuria, Renal insufficiency,... |
OMIM:603592 |
Adenine Phosphoribosyltransferase Deficiency |
|
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... |
ORPHA:976 |
Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Lower limb muscle w... |
OMIM:617950 |
Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... |
OMIM:220100 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Sulfite oxidase deficiency, Increased urinary taurine, Hypertaurinemia, Polymicrogyria, Molybdenu... |
OMIM:615501 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Elevated hepatic t... |
OMIM:616026 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Sulfite oxidase deficiency, Increased urinary taurine, Increased urinary thiosulfate, Reduced xan... |
OMIM:252150 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Elevated circulating creatinine c... |
OMIM:161900 |
Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Hypocalcemic tetany, Low-molecular-weight ... |
ORPHA:411634 |
Fanconi-Bickel Syndrome |
|
Glycosuria, Reduced subcutaneous adipose tissue, Hyperphosphaturia, Hypophosphatemia, Hypokalemia... |
OMIM:227810 |
Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Hyperprolinemia, Proteinuria |
ORPHA:419 |
Saccharopinuria |
|
Hyperlysinuria, Short stature, Histidinuria, Elevated circulating sacchoropine concentration, Sac... |
OMIM:268700 |
2P21 Microdeletion Syndrome |
|
Long eyelashes, Cystinuria, Failure to thrive, Growth delay, Hypocalcemia, Nephrolithiasis |
ORPHA:163693 |
Congenital Primary Megaureter |
|
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... |
ORPHA:617 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... |
OMIM:137950 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... |
OMIM:601894 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Microscopic hematuria |
ORPHA:2613 |
5-Oxoprolinase Deficiency |
|
Prolinuria, Calcium oxalate nephrolithiasis, Reduced 5-oxoprolinase level, Increased level of L-p... |
OMIM:260005 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Short stature, Beta 2-... |
OMIM:308990 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... |
ORPHA:54370 |
Primary Fanconi Renotubular Syndrome |
|
Decreased plasma carnitine, Bicarbonate-wasting renal tubular acidosis, Hypophosphatemic rickets,... |
ORPHA:3337 |
Threoninemia |
|
Hyperthreoninemia, Hyperthreoninuria, Growth delay |
OMIM:273770 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Elevated circulating alanine aminotransferase concentration, Short sta... |
OMIM:611881 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Abnormal lactate dehydrogenase level, Proteinuria, Hematuria |
ORPHA:2134 |
Galactosemia Iii |
|
Aminoaciduria, Hypergalactosemia, Decreased beta-galactosidase activity, Jaundice, Galactosuria, ... |
OMIM:230350 |
Dent Disease 2 |
|
Aminoaciduria, Proximal tubulopathy, Elevated circulating alanine aminotransferase concentration,... |
OMIM:300555 |
Nephrotic Syndrome, Type 17 |
|
Short stature, Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome,... |
OMIM:618176 |
Posterior Urethral Valve |
|
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... |
ORPHA:93110 |
Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Abnormal fingernail morphology, Aminoaciduria, Failure to thrive, Severe short stature |
ORPHA:2278 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Abnormal eyebrow morphology, Short stature, Hypoplasia of penis, Delayed puberty, Hypospadias, Ge... |
ORPHA:1816 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:614131 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Nephrotic syndrome, Hematuria, Membranoproliferative gl... |
OMIM:608709 |
Thrombotic Thrombocytopenic Purpura |
|
Generalized muscle weakness, Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinu... |
ORPHA:54057 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Increased urinary taurine, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Increased ur... |
OMIM:252160 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Cystathioninuria |
|
Nephrolithiasis, Cystathioninemia, Cystathioninuria |
ORPHA:212 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Nephrolithiasis, Growth delay, Cystinuria |
ORPHA:163690 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Increased phosphoribosylpyrophosphate synthetase level, Uric acid nephrolithiasis, Crystalluria, ... |
ORPHA:411536 |
Adenine Phosphoribosyltransferase Deficiency |
|
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati... |
OMIM:614723 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:613944 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Long eyelashes, Cystinuria, Failure to thrive, Muscle weakness, Hypocalcemi... |
OMIM:606407 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria, Abnormal hair morphology |
OMIM:242550 |
Preeclampsia |
|
Increased body mass index, Acute kidney injury, Abnormality of the kidney, Small for gestational ... |
ORPHA:275555 |
Valinemia |
|
Hypervalinemia, Valinuria, Muscle weakness, Failure to thrive |
OMIM:277100 |
Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria, Growth delay |
OMIM:247950 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Purpura, Nephritis, ... |
OMIM:161950 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... |
OMIM:616818 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome |
OMIM:614199 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria, Elevated hepatic transaminase, Intrauterine growth retardation |
OMIM:189800 |
Iminoglycinuria |
|
Prolinuria, Hyperglycinemia, Hydroxyprolinuria, Hyperprolinemia, Hydroxyprolinemia, Hyperglycinuria |
ORPHA:42062 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Nephropathy, Macroscopic ... |
ORPHA:79233 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Severe short stature, Nephropathy, Proteinuria |
ORPHA:2820 |
Hyper-Beta-Alaninemia |
|
Hyperbeta-alaninemia, Failure to thrive, Increased urinary taurine |
OMIM:237400 |
Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
Complement Factor H Deficiency |
|
Glomerular subendothelial electron-dense deposits, Hematuria, Thickened glomerular basement membr... |
OMIM:609814 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri... |
ORPHA:567544 |
Hyperprolinemia, Type Ii |
|
Prolinuria, Hyperglycinuria, Hyperprolinemia, Hydroxyprolinuria |
OMIM:239510 |
Acute Intermittent Porphyria |
|
Urinary incontinence, Porphyrinuria, Proximal muscle weakness in lower limbs, Urinary retention, ... |
ORPHA:79276 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Nephrolithiasis, Decreased mucosal sucrase-isomaltase activity |
OMIM:222900 |
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Muscle weakness, Homocystinuria, Hyperhomocystinemia |
OMIM:236250 |
Gracile Syndrome |
|
Aminoaciduria, Increased circulating ferritin concentration, Increased serum pyruvate, Intrauteri... |
OMIM:603358 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Unconjugated hyperbilirubinemia, Hemoglobinuria, Jaundice, Pallor, Prolonged neonatal jaundice, D... |
OMIM:300908 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Jaundice, Growth delay, Weight loss |
ORPHA:79238 |
Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Progeroid facial appearance, Proteinuria, Generalized hirsutism, Microscopic hema... |
ORPHA:79087 |
Hyperglycinuria |
|
Calcium oxalate nephrolithiasis, Hyperglycinuria |
OMIM:138500 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca... |
OMIM:613092 |
C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatitis, Hemoglobinuria, Jaundice, Pallor, Increased circulating ferritin concentration |
OMIM:194380 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... |
OMIM:614650 |
Hypercalcemia, Infantile, 1 |
|
Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Hypercalcemia, Nephrocalcin... |
OMIM:143880 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria |
OMIM:607832 |
Wilson Disease |
|
Aminoaciduria, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Nephrolithia... |
OMIM:277900 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:618349 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Increased phosphoribosylpyrophosphate synthetase level, Uric acid nephrolithiasis, Crystalluria, ... |
ORPHA:411543 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria, Failure to thrive, Abnormality of neuronal migration |
OMIM:236795 |
Dibasic Amino Aciduria I |
|
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria |
OMIM:222690 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Hyperbiliru... |
OMIM:620010 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome, Acrocyanosis |
OMIM:123540 |
Dent Disease 1 |
|
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Short stature, Stage 5 chronic kidn... |
OMIM:300009 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Hypouricemia, Renal, 2 |
|
Nephrolithiasis, Hypouricemia |
OMIM:612076 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Hyperuricemia, Short stature, Renal cyst, Nephropathy, Elevated circulating creatinine concentrat... |
OMIM:617056 |
Glycogen Storage Disease V |
|
Hyperuricemia, Elevated circulating creatine kinase concentration, Muscle weakness, Myoglobinuria... |
OMIM:232600 |
Hartnup Disorder |
|
Cutaneous photosensitivity, Neutral hyperaminoaciduria, Short stature |
OMIM:234500 |
Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... |
OMIM:620056 |
Hellp Syndrome |
|
Acute kidney injury, Hemoglobinuria, Elevated hepatic transaminase, Increased circulating lactate... |
ORPHA:244242 |
Distal 16P11.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hyperuricemia, Abnormality of the kidney, Renal agenesis, Proteinuria, Obe... |
ORPHA:261222 |
Stimmler Syndrome |
|
Aminoaciduria, Intrauterine growth retardation, Short stature |
ORPHA:3199 |
Stiff Skin Syndrome |
|
Lack of skin elasticity, Abnormal circulating lipid concentration, Short stature, Muscle weakness... |
ORPHA:2833 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Urinary incontinence, Short stature, Urinary retention, Foot dorsiflexor weakness, Growth delay |
OMIM:616586 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Limb muscle weakness, Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
Hyperprolinemia, Type I |
|
Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria |
OMIM:239500 |
Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Renal... |
OMIM:134600 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Stage 5 chronic kidney disease, Elevated circulating creatine kinase concentration, Distal muscle... |
OMIM:614455 |
Focal Segmental Glomerulosclerosis 5 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:613237 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Distal renal tubular acidosis, Muscle weakness, Impaired urinary acidification, Neph... |
OMIM:179800 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria, Urticaria |
OMIM:615399 |
Hydroxyprolinemia |
|
Hydroxyprolinemia, Microscopic hematuria |
OMIM:237000 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Abnormal tubulointerstitial morphology, Nephropathy, Elevated hepatic transaminase, Chronic kidne... |
OMIM:602114 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Purpura, Mesangial ... |
OMIM:613496 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... |
ORPHA:84090 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hype... |
OMIM:619386 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria, Failure to thrive, Gowers sign |
OMIM:612718 |
Bardet-Biedl Syndrome 18 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Obesity |
OMIM:615995 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Hematuria, Benign Familial, 1 |
|
Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Abnormal urinary color |
ORPHA:90035 |
Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... |
ORPHA:1652 |
Hypomagnesemia 3, Renal |
|
Hyperuricemia, Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiu... |
OMIM:248250 |
Iminoglycinuria |
|
Prolinuria, Hyperglycinuria, Hydroxyprolinuria |
OMIM:242600 |
Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Short stature |
ORPHA:417 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts |
OMIM:609886 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Obesity |
OMIM:615991 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Failure to thrive, Generalized aminoaciduria |
OMIM:606528 |
Galactosemia I |
|
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Increased level of ga... |
OMIM:230400 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613913 |
Lesch-Nyhan Syndrome |
|
Renal insufficiency, Hyperuricemia, Hematuria |
ORPHA:510 |
Porphyria, Acute Intermittent |
|
Urinary incontinence, Respiratory paralysis, Urinary retention, Dysuria, Muscle weakness, Elevate... |
OMIM:176000 |
Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency, Obesity |
OMIM:615987 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Glycosuria, Jaundice, Elevated hepatic transaminase, Lisse... |
OMIM:613404 |
Idiopathic Hypercalciuria |
|
Abnormal circulating calcium concentration, Calcium oxalate nephrolithiasis, Parathormone-indepen... |
ORPHA:2197 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Nephropathy, Hematuria, Nephrolithiasis |
ORPHA:2196 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypercalciuria, Hypouricemia |
OMIM:242050 |
Medullary Sponge Kidney |
|
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis |
ORPHA:1309 |
Lessel-Kubisch Syndrome |
|
Premature graying of hair, Short stature, Sparse pubic hair, Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Acute kidney injury, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Hypona... |
ORPHA:90038 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication, Hypoargininemia |
ORPHA:147 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Nephrolithiasis, Short stature |
ORPHA:1837 |
Cednik Syndrome |
|
Short stature, Nephrotic syndrome, Pachygyria, Poor head control, Proteinuria, Polymicrogyria |
ORPHA:66631 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Elevated alkaline phosphatase of bone origin, Short stature, Increased circulating beta-C-termina... |
ORPHA:157215 |
Saccharopinuria |
|
Hyperlysinemia, Hyperlysinuria, Short stature, Citrullinuria, Cystinuria, Abnormality of circulat... |
ORPHA:3124 |
Xanthinuria, Type I |
|
Reduced xanthine dehydrogenase level, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia,... |
OMIM:278300 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria, Gowers sign, Elevated circulating creatine kinase concentration, Facial diplegia, ... |
OMIM:609560 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Acute kidney injury, Hemoglobinuria, Glycosuria, Jaundice, Abnormal er... |
ORPHA:447 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Alaninuria, Elevated circulating asp... |
OMIM:615158 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... |
OMIM:615008 |
Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... |
OMIM:603965 |
Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Short stature, Stage 5 chronic kidney diseas... |
OMIM:120330 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Short stature, Hypokalemia, Increased circulating renin level, Decreased glome... |
OMIM:601198 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy, External ophthalmoplegia, Weight loss, Cachexia, Failure to ... |
OMIM:612075 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Urinary incontinence, Urinary retention, Dysuria, Hirsutism, Abnormality of the urethra |
ORPHA:2795 |
Hydroxykynureninuria |
|
Aminoaciduria, Jaundice |
OMIM:236800 |
Camptodactyly-Taurinuria Syndrome |
|
Aminoaciduria, Increased urinary taurine |
ORPHA:1325 |
Cog7-Cdg |
|
Small for gestational age, Abnormality of the kidney, Jaundice, Elevated hepatic transaminase, El... |
ORPHA:79333 |
Diaminopentanuria |
|
Hyperlysinuria, Cystinuria |
OMIM:222350 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Hyperuricemia, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Renal dysplasia, Small for gestational age, Muscle... |
OMIM:616733 |
Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental ... |
OMIM:600995 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Steroid-resistant... |
OMIM:617609 |
Cutis Laxa, Autosomal Dominant 3 |
|
Cutis laxa, Premature skin wrinkling, Unilateral renal agenesis, Intrauterine growth retardation,... |
OMIM:616603 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
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 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Short stature, Beta 2-microglobulinuria, Medullary nephrocalcin... |
OMIM:611555 |
Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis, Postnatal growth retardation |
OMIM:617219 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
Bardet-Biedl Syndrome 16 |
|
Short stature, Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal... |
OMIM:615993 |
Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Aminoaciduria, Methylmalonic acidemia, Ophthalmoplegia, Elevated circulating creatine kinase conc... |
OMIM:612073 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
Hyperlysinuria With Hyperammonemia |
|
Hyperlysinemia, Hyperlysinuria, Dibasicaminoaciduria, Hyperammonemia, Growth delay |
OMIM:238750 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Distal upper limb muscle weakness, Proximal muscle weakness, Progressive proximal muscle weakness... |
OMIM:620138 |
Wound Botulism |
|
Diaphragmatic paralysis, Muscle weakness, Urinary retention, Respiratory insufficiency due to mus... |
ORPHA:178475 |
Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hyperuricemia, Decreased plasma carnitine, Increased level of 3-hydroxy-3-methylglutaric acid in ... |
OMIM:246450 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Proximal tubulopathy, Short stature, Hypophosphatemia, Hypophosphatemic ... |
OMIM:300554 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Alopecia, Striae distensae, Proximal muscle weakness, Abnormal subcutaneous fat tissue distributi... |
ORPHA:189439 |
Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperlysinuria |
OMIM:238700 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Growth delay, Positive ferric chloride test |
OMIM:229100 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Hematuria, Purpura, Proteinuria, Renal insufficiency |
ORPHA:375 |
Camos Syndrome |
|
Renal insufficiency, Nephrotic syndrome |
ORPHA:83472 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Abnormal circulating lipid concentration, External ophthalmoplegia, Muscle weakne... |
ORPHA:225 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Foix-Alajouanine Syndrome |
|
Urinary incontinence, Urinary retention, Neurogenic bladder, Lower limb muscle weakness, Muscle w... |
ORPHA:79093 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Reduced glutathione synthetase level, Glyoxalase deficiency, Increased level of L-pyroglutamic ac... |
OMIM:231900 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Growth delay, Low-molecular-weight p... |
OMIM:615605 |
Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
Angioma, Hereditary Neurocutaneous |
|
Hematuria |
OMIM:106070 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia, Exercise-induced myoglobinuria, Jaundice, Muscle weakness |
OMIM:232800 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Urolithiasis, Increased phosphoribosylpyrophosphate synthetase level, Uric acid nephrolithiasis, ... |
OMIM:300661 |
Amyloidosis, Familial Visceral |
|
Nephropathy, Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:105200 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased urinary urate, Hypouricemia |
ORPHA:760 |
Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Hyperkalemia, Neonatal hypoglycemia, Hyponatremia |
ORPHA:199296 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased lecithin cholesterol acyl transferase level, Decreased HDL cholesterol concentration, P... |
OMIM:245900 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Petechiae, Skin ulcer, Hematuria, Purpura, Cutis marmorata, Viral hepatitis, Musc... |
ORPHA:91138 |
Cystinosis |
|
Aminoaciduria, Short stature, Hypophosphatemia, Hypokalemia, Failure to thrive, Nephropathy, Dela... |
ORPHA:213 |
Netherton Syndrome |
|
Aminoaciduria, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Short stature, Fine hair,... |
ORPHA:634 |
Primary Hyperoxaluria Type 1 |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, Ca... |
ORPHA:93598 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Severe short stature |
OMIM:204730 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Abnormal circulating calcium concentration, Hypophosphatemia, Hypercalci... |
OMIM:241530 |
Botulism |
|
Diaphragmatic paralysis, Diaphragmatic weakness, Muscle flaccidity, Urinary retention |
ORPHA:1267 |
Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati... |
OMIM:619468 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Pollakisuria, Short stature, Urinary retention, Muscle weakness, Growth delay |
ORPHA:447760 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Alopecia, Striae distensae, Proximal muscle weakness, Renal cell carcinoma, Bruising susceptibili... |
ORPHA:189427 |
Iatrogenic Botulism |
|
Diaphragmatic paralysis, Muscle weakness, Urinary retention |
ORPHA:254509 |
Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... |
OMIM:612925 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal blood ion concentration, Abnormality of the bladder, Abnormality of ... |
ORPHA:79404 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria |
OMIM:204750 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Foodborne Botulism |
|
Diaphragmatic paralysis, Muscle weakness, Urinary retention, Respiratory insufficiency due to mus... |
ORPHA:228371 |
Glucose-Galactose Malabsorption |
|
Weight loss, Hematuria, Failure to thrive, Hypercalcemia, Renal insufficiency, Hypernatremia, Nep... |
ORPHA:35710 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Nephrolithiasis |
OMIM:301060 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyperuricemia, Renal salt wasting, Failure to thrive, Increased blood urea nitrogen, Polyuria, Hy... |
OMIM:613845 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Short stature, Cachexia, Elevated circulating creatine kinase concentration, Methy... |
ORPHA:1933 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Trichorrhexis nodosa, Short stature, Oroticaciduria, Abnormal hair quantity, Hyper... |
ORPHA:23 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia, Short stature, Poor head control, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria |
OMIM:300322 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
Cystinuria |
|
Renal insufficiency, Hyperuricemia, Hematuria, Nephrolithiasis |
ORPHA:214 |
Adrenomyeloneuropathy |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Urinary retention, Urinary urgency, ... |
ORPHA:139399 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Reduced carnitine O-palmitoyltransferase level, Elevated circulatin... |
ORPHA:228302 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Hyperuricemia, Nephritis, Nephropathy, Decreased glomerular filtration rat... |
OMIM:162000 |
Glycogen Storage Disease Ia |
|
Hyperuricemia, Short stature, Enlarged kidney, Elevated hepatic transaminase, Delayed puberty, De... |
OMIM:232200 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Hypoalbuminemia, Nephrotic syndrome |
OMIM:614652 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfite oxidase deficiency, Fine hair, Elevated circulating creatine kinase concentration, Increa... |
OMIM:272300 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Short stature, Stage 5 chronic kidney disease, Supernumerary nipple, Chronic tubuloin... |
OMIM:614376 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Short stature, Hypermagnesiuria, Hyperphosph... |
ORPHA:18 |
Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Lower limb muscle weakness, Acute kidney injury, Exercise-induced myoglobinuri... |
ORPHA:99845 |
Heme Oxygenase 1 Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Hematuria, Nephritis, Elevated circu... |
OMIM:614034 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
Transaldolase Deficiency |
|
Telangiectasia, Abnormality of the kidney, Premature skin wrinkling, Increased serum bile acid co... |
ORPHA:101028 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephri... |
OMIM:301006 |
Focal Segmental Glomerulosclerosis 1 |
|
Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Tubulointerstitial nephritis, Sparse eyebrow, Hypoplastic toenails, Sparse scalp hair, Short stat... |
OMIM:616901 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... |
OMIM:619155 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, White hair, Positive ferric chloride test |
OMIM:250900 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Small for gestational age, Jaundice... |
OMIM:208085 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Short stature, Urinary retention, Small for gestational age, Thin nail, Growth delay, Poor head c... |
OMIM:617799 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612926 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
Cryoglobulinemia, Familial Mixed |
|
Hematuria, Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria,... |
OMIM:123550 |
Glutathionuria |
|
Urinary incontinence, Gray matter heterotopia, Reduced gamma-glutamyltransferase level, Glutathio... |
OMIM:231950 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Renal insufficiency, Increase... |
ORPHA:890 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Late-onset proximal muscle weakness, Weight loss, Urinary retention, Transi... |
ORPHA:79102 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis, Hypercalciuria |
OMIM:612286 |
Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Short stature, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria... |
ORPHA:97362 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Severe short stature, Nephropathy, Decreased glomerular filtration rate, Elevated circulating cre... |
OMIM:242530 |
Non-Functioning Paraganglioma |
|
Weight loss, Hematuria, Elevated urinary epinephrine, Elevated urinary dopamine, Pallor, Flushing... |
ORPHA:94080 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Alaninuria, Elevated hepatic transaminase, Lacticaciduria, Hyperprolin... |
OMIM:616299 |
Flotch Syndrome |
|
Sparse eyelashes, Nephrolithiasis, Abnormal eyelash morphology, Abnormality of the nail |
ORPHA:2045 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Short stature, Methylmalonic acidemia, Hyperhomocystinemia, Failure to thrive, Methylmalonic acid... |
OMIM:309541 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Hypertryptophanemia |
|
Hypertryptophanemia, Tryptophanuria |
OMIM:600627 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration, Muscle wea... |
OMIM:268200 |
Inhalational Botulism |
|
Muscle weakness, Urinary retention |
ORPHA:254504 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612924 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Pachygyria, Nephrolithiasis, Lissencephaly |
OMIM:619827 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis |
OMIM:612287 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph... |
OMIM:219800 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Weight loss, Reduced C-peptide level, Hypophosphatemic rickets, Urinary retention |
ORPHA:2126 |
Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... |
OMIM:616892 |
Pituitary Adenoma 4, Acth-Secreting |
|
Facial erythema, Striae distensae, Hypokalemia, Purpura, Bruising susceptibility, Ecchymosis, Hir... |
OMIM:219090 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Nephrotic syndrome |
OMIM:617006 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Short stature, Abnormality of the kidney, Elevated hepatic transaminase, Failure to thrive, Delay... |
ORPHA:369 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hyperlysinemia, Hyperlysinuria, Decreased plasma free carnitine, Failure to thrive, Poor head con... |
OMIM:616034 |
Hyperparathyroidism 4 |
|
Nephrolithiasis, Hypercalcemia |
OMIM:617343 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Nephrolithiasis, Short stature |
OMIM:620023 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo... |
OMIM:104200 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Generalized aminoaciduria |
ORPHA:882 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Renal insufficiency, Weight loss, Nephrotic ... |
ORPHA:85450 |
Argininemia |
|
Hyperammonemia, Diaminoaciduria |
ORPHA:90 |
Dermotrichic Syndrome |
|
Hyperconvex toenail, Aminoaciduria, Proportionate short stature, Nail dystrophy |
ORPHA:99688 |
Primary Hyperoxaluria Type 3 |
|
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... |
ORPHA:93600 |
Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Short stature, Nephrotic syndrome, Growth delay, Proteinuria, Focal segmen... |
OMIM:618347 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Nephrolithiasis, Progressive external ophthalmo... |
ORPHA:352447 |
Fatal Familial Insomnia |
|
Weight loss, Urinary retention |
OMIM:600072 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperuricosuria, Short stature, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting... |
ORPHA:47159 |
Cockayne Syndrome Type 3 |
|
Dry hair, Cutaneous photosensitivity, Urinary retention, Neurogenic bladder, Premature graying of... |
ORPHA:90324 |
Glutathione Synthetase Deficiency |
|
Reduced glutathione synthetase level, Increased level of L-pyroglutamic acid in urine |
OMIM:266130 |
Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Muscle weakness, Myoglobinuria, Elevated circulating creatine kinase concent... |
OMIM:160010 |
Amyloidosis, Finnish Type |
|
Bulbar palsy, Renal insufficiency, Cutis laxa, Nephrotic syndrome |
OMIM:105120 |
Cog5-Cdg |
|
Urinary incontinence, Short stature, Neurogenic bladder, Premature skin wrinkling, Elevated hepat... |
ORPHA:263487 |
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Nephrolithiasis, Renal tubular acidosis |
OMIM:267300 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria |
OMIM:120433 |
Relapsing Fever |
|
Increased total bilirubin, Increased circulating lactate dehydrogenase concentration, Acute kidne... |
ORPHA:91547 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
Hsd10 Disease |
|
Abnormal urinary acylglycine profile, Postnatal growth retardation, Elevated urinary 3-hydroxybut... |
ORPHA:391417 |
Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Short stature, Glycosuria, Hypophosphatemia, Gener... |
OMIM:613388 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Failure to thrive, Increased circulating guanosine concentrat... |
OMIM:613179 |
Renal Cysts And Diabetes Syndrome |
|
Hyperuricemia, Abnormality of alkaline phosphatase level, Stage 5 chronic kidney disease, Abnorma... |
OMIM:137920 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria, Jaundice |
ORPHA:33574 |
Galloway-Mowat Syndrome 5 |
|
Stage 5 chronic kidney disease, Proteinuria, Pachygyria, Steroid-resistant nephrotic syndrome, Fo... |
OMIM:617731 |
Familial Reactive Perforating Collagenosis |
|
Abnormal fingernail morphology, Dermatological manifestations of systemic disorders, Chronic kidn... |
ORPHA:79147 |
Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria |
OMIM:261100 |
Myasthenic Syndrome, Congenital, 22 |
|
Muscle weakness, Short stature, Proximal muscle weakness, Cystinuria |
OMIM:616224 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:618913 |
Rhabdoid Tumor |
|
Oculomotor nerve palsy, Weight loss, Hematuria, Renal neoplasm, Hypercalcemia |
ORPHA:69077 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hyperuricemia, Short stature, Hydroxyprolinuria, Elevated circulating alkaline... |
OMIM:239000 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:614736 |
Parkes Weber Syndrome |
|
Urinary retention, Nephrotic syndrome, Prominent superficial blood vessels, Lower limb muscle wea... |
ORPHA:90307 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... |
OMIM:145001 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypermagnesiuria, Renal calci... |
OMIM:248190 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Hyperammonemia |
ORPHA:664 |
Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Generalized muscle weakness, Glycosuria, Hyperphosphaturia, Fatigable weakness of ... |
ORPHA:436271 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent increased renal ... |
OMIM:600740 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Decreased methionine synthase activity, Hyperhomocystinemia, Hypomethioninemia, Failure to thrive... |
OMIM:250940 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Urinary retention, Jaundice, Elevated hepatic transaminase, Chronic hepatic failure, Portal hyper... |
ORPHA:79124 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Jaundice, Ge... |
OMIM:231680 |
Glycogen Storage Disease Ib |
|
Hyperuricemia, Short stature, Enlarged kidney, Elevated hepatic transaminase, Delayed puberty, De... |
OMIM:232220 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic kidney diseas... |
OMIM:174000 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Hematuria, Fine hair, Abnormality of the bladder, Sparse hair |
ORPHA:1839 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... |
OMIM:610725 |
Fanconi-Bickel Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Renal tubular acido... |
ORPHA:2088 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Functional abnormality of the bladder, Lower limb muscle weakness |
ORPHA:488594 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria, Ectodermal dysplasia, Small nail, Hypoplastic nipples, Sparse hair |
OMIM:273400 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Muscle weakness, Renal insufficiency, Myoglobinuria |
OMIM:255110 |
X-Linked Spastic Paraplegia Type 16 |
|
Functional abnormality of the bladder |
ORPHA:100997 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hemolytic-uremic syndrome, Methylmalonic aciduria, Decreased methionine synthase activity, Cystat... |
OMIM:277400 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Congenital nephrotic syndrome, Small for gestational age, Glomerular scler... |
OMIM:256300 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... |
OMIM:613095 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn... |
ORPHA:567548 |
Sarcosinemia |
|
Hypersarcosinuria, Hypersarcosinemia, Peroneal muscle weakness |
ORPHA:3129 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Short stature, Hypophosphatemia, Hypocalcemia, Nephrolithiasis |
ORPHA:93160 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:610600 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections |
ORPHA:284400 |
Hyperprolinemia Type 2 |
|
Prolinuria, Hyperalaninemia, Hyperglycinemia, Ophthalmoparesis, Increased urine alpha-ketoglutara... |
ORPHA:79101 |
Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Failure to thrive, Intrauterine growth retardation, Renal insuffic... |
OMIM:613861 |
Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Failure to thrive, Renal hypoplasia |
OMIM:604273 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:203400 |
Glycogen Storage Disease Xi |
|
Renal insufficiency, Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinas... |
OMIM:612933 |
Glycine Encephalopathy |
|
Hyperglycinemia, Hyperglycinuria |
OMIM:605899 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Hyperu... |
OMIM:603860 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Hematuria |
OMIM:314000 |
Primary Hyperoxaluria |
|
Elevated urine glycolate, Calcium oxalate nephrolithiasis, Stage 5 chronic kidney disease, Hematu... |
ORPHA:416 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Weight loss, Sparse axillary hair, Hyperkalemia, Renal salt wasting, Increased cir... |
ORPHA:95409 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Calcium oxalate nephrolithiasis |
OMIM:248000 |
Dyschondrosteosis-Nephritis Syndrome |
|
Short stature, Hematuria, Mesomelic short stature, Nephropathy, Proteinuria, Intrauterine growth ... |
ORPHA:1765 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:203780 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Increased level of gamma-aminobutyric acid in urine, Decreased succinic semialdehyde dehydrogenas... |
OMIM:271980 |
Sialidosis Type 1 |
|
Aminoaciduria, Short stature, Urinary excretion of sialylated oligosaccharides, Increased urinary... |
ORPHA:812 |
Primary Hyperoxaluria Type 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... |
ORPHA:93599 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal cyst, Renal insufficiency, Hematuria, Elevated circulating creatine kinase concentration |
OMIM:611773 |
Granulomatous Slack Skin |
|
Cutis laxa, Acute kidney injury, Redundant skin, Hypercalcemia, Erythema, Nephrocalcinosis |
ORPHA:33111 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Decreased methionine synthase activity, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni... |
OMIM:236270 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Elevated hepatic transaminase, Elevated crea... |
ORPHA:284426 |
Muscular Dystrophy, Cardiac Type |
|
Carnosinuria, Elevated circulating creatine kinase concentration |
OMIM:309930 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Reduced circulating aldolase concentration, Acute kidney injury, Hyperkalemia, Elevated creatine ... |
ORPHA:57 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Drug-Induced Lupus Erythematosus |
|
Petechiae, Hematuria, Elevated circulating creatine kinase concentration, Increased blood urea ni... |
ORPHA:231111 |
Lethal Infantile Mitochondrial Myopathy |
|
Fatal liver failure in infancy, Renal insufficiency, Progressive external ophthalmoplegia |
ORPHA:254857 |
Galloway-Mowat Syndrome 4 |
|
Congenital nephrotic syndrome, Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease,... |
OMIM:617730 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Increased urine alpha-ketoglutarate concentration, Elevated urinary N-acetylaspartic acid level, ... |
OMIM:618384 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Increased circulating lactate dehydrogenase concentration, Nephrotic syndrome, Hematuri... |
ORPHA:93552 |
Glycogen Storage Disease Ixd |
|
Lower limb muscle weakness, Exercise-induced myoglobinuria, Elevated circulating creatine kinase ... |
OMIM:300559 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Generalized muscle weakness, Hyperglycinemia, Beta-aminoisobutyric aciduria, Intrauterine growth ... |
OMIM:615330 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
Acquired Ichthyosis |
|
Renal insufficiency, Dry skin, Erythema |
ORPHA:454 |
Nephronophthisis 13 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp... |
OMIM:614377 |
Glycogen Storage Disease X |
|
Renal insufficiency, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:261670 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Short stature, Proteinuria, Nephrotic syndrome |
ORPHA:1192 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia, Optic atrophy, Hyponatremia |
OMIM:608688 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613779 |
Gapo Syndrome |
|
Alopecia, Sparse eyebrow, Short stature, Prematurely aged appearance, Growth delay, Sparse eyelas... |
ORPHA:2067 |
Tubulointerstitial Nephritis With Uveitis |
|
Glomerulonephritis, Elevated circulating creatinine concentration, Reversible renal failure, Acut... |
OMIM:607665 |
Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... |
OMIM:615244 |
Alstrom Syndrome |
|
Tubulointerstitial nephritis, Alopecia, Hyperuricemia, Short stature, Chronic active hepatitis, E... |
OMIM:203800 |
Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Cutaneous photosensitivity, Porphyrinuria, Skin ves... |
ORPHA:79473 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Jaundice, Abnormal renal physiology, Incr... |
OMIM:274150 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss, Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopa... |
ORPHA:276621 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrot... |
ORPHA:839 |
Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria |
OMIM:610205 |
Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Renal hypoplasia, Renal insufficiency, Obesity, Hydronephrosis |
OMIM:615996 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Neck muscle weakness, Muscle weakness, Abnormal erythrocyte enzyme level, Hypouricemia |
ORPHA:1187 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Proximal tubulopathy, Hyperuricemia, Glycosuria, Hyperphosphaturia, Jaun... |
OMIM:229600 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia, Polyuria, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Dry ... |
OMIM:617671 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Ophthalmoparesis, Glycosuria, Hyperphosphaturia, Failure to thrive, Decreased live... |
OMIM:220110 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Megacystis, Nephrolithiasis, Fetal pyelectasis, Recurrent urinary tract infections |
OMIM:619365 |
Gyrate Atrophy Of Choroid And Retina |
|
Aminoaciduria, Abnormal hair morphology, Hyperornithinemia |
ORPHA:414 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Hematuria, Abnormal ren... |
OMIM:308940 |
Nephrosialidosis |
|
Nephropathy, Renal insufficiency, Nephrotic syndrome |
OMIM:256150 |
Familial Expansile Osteolysis |
|
Elevated circulating alkaline phosphatase concentration, Hydroxyprolinuria |
OMIM:174810 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Dry hair, Trichorrhexis nodosa, Brittle hair, Episodic ammonia intoxication, Eleva... |
OMIM:207900 |
Marcus-Gunn Syndrome |
|
Nephrolithiasis, Postnatal growth retardation |
ORPHA:91412 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Elevated hepatic transaminase, Abnormal circulating enzyme concen... |
ORPHA:348 |
Stormorken Syndrome |
|
Proximal muscle weakness, Short stature, Hematuria, Bruising susceptibility, Elevated circulating... |
OMIM:185070 |
Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... |
OMIM:602088 |
Lcat Deficiency |
|
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... |
ORPHA:650 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Renal insufficiency, Hyperammonemia |
ORPHA:28 |
Lysinuric Protein Intolerance |
|
Aminoaciduria, Short stature, Cutis laxa, Stage 5 chronic kidney disease, Fine hair, Oroticacidur... |
OMIM:222700 |
Fumarase Deficiency |
|
Aminoaciduria, Hepatic failure, Reduced subcutaneous adipose tissue, Hyperbilirubinemia, Pallor, ... |
OMIM:606812 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria |
ORPHA:1473 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Proteinuria, Hematuria, Weight loss |
ORPHA:90060 |
Urofacial Syndrome 2 |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency... |
OMIM:615112 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary aminoisobutyric acid, Periventricular heterotopia, Methylmalonic acidemia, Eleva... |
OMIM:614105 |
Becker Muscular Dystrophy |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Muscle weaknes... |
ORPHA:98895 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:177735 |
Ddost-Cdg |
|
Nephrotic range proteinuria, Short stature, Elevated hepatic transaminase, Failure to thrive, Dry... |
ORPHA:300536 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1909 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Hypoplast... |
OMIM:608836 |
Leber Congenital Amaurosis 1 |
|
Hyperthreoninemia, Hyperthreoninuria, Growth delay |
OMIM:204000 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Synophrys, Fine hair, Glomerular sclerosis, Glomerulonephritis, Hypospadias, ... |
OMIM:619428 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine kinase, Elevated ci... |
ORPHA:368 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnesemia, Hypocalci... |
OMIM:145981 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Reduced carnitine O-palmitoyltransferase level, Hepatic failure, El... |
ORPHA:157 |
Alg8-Cdg |
|
Cutis laxa, Small for gestational age, Abnormality of subcutaneous fat tissue, Premature skin wri... |
ORPHA:79325 |
Free Sialic Acid Storage Disease |
|
Proteinuria, Skin ulcer, Failure to thrive in infancy, Nephrotic syndrome |
ORPHA:834 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss, Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epithelial necrosis,... |
ORPHA:49041 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood urea ni... |
ORPHA:251004 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Hyperleucinemia, Ketonuria, Decreased plasma carnitine, Acute hyperammonemia, Organic a... |
OMIM:210210 |
Acute Transverse Myelitis |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Urinary retention, Decreased circula... |
ORPHA:139417 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated hepatic transaminase, Failure to thrive, Duplicated collecting system, Decreased liver f... |
OMIM:617093 |
Immunoneurologic Disorder, X-Linked |
|
Small for gestational age, Progressive proximal muscle weakness, Neonatal death, Functional abnor... |
OMIM:300076 |
Congenital Hypothyroidism |
|
Short stature, Abnormal hair morphology, Prolonged neonatal jaundice, Angiokeratoma corporis diff... |
ORPHA:442 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Renal insufficiency, Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinas... |
ORPHA:2364 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria |
OMIM:260000 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Acute kidney injury, Purpura, Glomerul... |
ORPHA:93126 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypercholesterolemia, Hyperuricemia, Short stature, Stage 5 chronic kidney disease, Enlarged kidn... |
ORPHA:79259 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria, Failure to thrive |
OMIM:250620 |
Liddle Syndrome |
|
Muscle weakness, Hypokalemia, Nephropathy, Renal insufficiency |
ORPHA:526 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria, Subcutaneous hemorrhage |
OMIM:603585 |
Legionnaires Disease |
|
Hepatitis, Jaundice, Hematuria, Muscle weakness, Proteinuria, Hyponatremia, Renal insufficiency |
ORPHA:549 |
Alport Syndrome |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... |
ORPHA:63 |
Glanzmann Thrombasthenia |
|
Purpura, Bruising susceptibility, Ecchymosis, Macroscopic hematuria, Spontaneous hematomas |
ORPHA:849 |
Bohring-Opitz Syndrome |
|
Nephroblastoma, Short stature, Urinary retention, Synophrys, Hypertrichosis, Severe failure to th... |
ORPHA:97297 |
Nephrotic Syndrome, Type 26 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:620049 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... |
ORPHA:656 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia |
ORPHA:2668 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Alpha-aminoadipic aciduria, Elevated circulating 2-hydroxybutyric acid concentration, Hyperglycin... |
OMIM:605711 |
Myh9-Related Disease |
|
Elevated hepatic transaminase, Nephritis, Bruising susceptibility, Nephropathy, Proteinuria, Rena... |
ORPHA:182050 |
Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556037 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Hyperammonemia, Acute hepatitis, Hyperornithinemia, Decreased liver function, ... |
OMIM:238970 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Stage 5 chronic kidney disease, Renal insufficiency, Bilateral renal atrophy, Proteinuria |
OMIM:166300 |
Cockayne Syndrome |
|
Urinary incontinence, Dry hair, Hyperuricemia, Cutaneous photosensitivity, Nephrotic syndrome, Ne... |
ORPHA:191 |
Yao Syndrome |
|
Nephrolithiasis, Weight loss |
OMIM:617321 |
Xfe Progeroid Syndrome |
|
Cutaneous photosensitivity, Prematurely aged appearance, Cachexia, Elevated hepatic transaminase,... |
OMIM:610965 |
Pure Mitochondrial Myopathy |
|
Fatigable weakness of bulbar muscles, Neck flexor weakness, Proximal muscle weakness, Gowers sign... |
ORPHA:254854 |
Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Short stature, Stage 5 chronic kidney disease, Small for gestational... |
ORPHA:1830 |
Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
Leigh Syndrome |
|
Frontal hirsutism, Lacticaciduria, Alopecia, 3-Methylglutaconic aciduria, Hyperalaninemia, Renal ... |
ORPHA:506 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Small nail, Ketonuria, Large for gestational age, Failure to thrive, Polymicrogyria |
OMIM:614520 |
Hereditary Fructose Intolerance |
|
Reduced circulating aldolase concentration, Hyperuricemia, Jaundice, Hypophosphatemia, Chronic he... |
ORPHA:469 |
Lamellar Ichthyosis |
|
Lack of skin elasticity, Aplasia/Hypoplasia of the eyebrow, Short stature, Abnormality of the nai... |
ORPHA:313 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Telangiectasia, Punctate vasculitis skin lesions, Elevated hepatic transaminase, Hematuria, Vascu... |
OMIM:192315 |
Visceral Myopathy 1 |
|
Vesicoureteral reflux, Hydronephrosis, Urinary retention, Megacystis |
OMIM:155310 |
Ruvalcaba Syndrome |
|
Hematuria, Delayed puberty, Abnormal localization of kidney, Generalized hirsutism, Intrauterine ... |
ORPHA:3121 |
Camurati-Engelmann Disease |
|
Urinary retention, Abnormal subcutaneous fat tissue distribution, Cachexia, Elevated circulating ... |
ORPHA:1328 |
Senior-Loken Syndrome |
|
Stage 5 chronic kidney disease, Nephronophthisis, Short stature, Chronic kidney disease |
ORPHA:3156 |
Giant Cell Arteritis |
|
Alopecia, Hepatic failure, Weight loss, Ophthalmoparesis, Skin ulcer, Hematuria, Muscle weakness,... |
ORPHA:397 |
Combined Deficiency Of Factor V And Factor Viii |
|
Bruising susceptibility, Hyperuricemia, Hematuria, Hyperlipidemia |
ORPHA:35909 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Neurogenic bladder, E... |
OMIM:608779 |
Craniofaciofrontodigital Syndrome |
|
Patent ductus arteriosus, Palmoplantar cutis laxa, Short stature, Cutis laxa, Premature skin wrin... |
ORPHA:363705 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Decreased methionine synthase activity, Methylmalonic acidemia, Hyperho... |
OMIM:614857 |
Immunoglobulin A Vasculitis |
|
Glomerulopathy, Angioedema, Skin ulcer, Hematuria, Purpura, Bruising susceptibility, Muscle weakn... |
ORPHA:761 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Reduced carnitine O-palmitoyltransferase level, Hepatic failure, Elevated circulating acylcarniti... |
ORPHA:228305 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Muscle weakness, Urinary urgency, Urinary retention, Recurrent urinary tract infections |
ORPHA:99027 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Short stature, Nephrotic syndrome, Stage... |
OMIM:618348 |
Dermatoleukodystrophy |
|
Progeroid facial appearance, Premature skin wrinkling |
OMIM:221790 |
Malaria |
|
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Elevated hepatic transaminase, Large for gestational age, Abnormal circulating fatty-... |
ORPHA:263455 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Cutaneous photosensitivity, Porphyrinuria, Decrease... |
ORPHA:101330 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process e... |
OMIM:617575 |
Coach Syndrome 3 |
|
Renal tubular atrophy, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal interst... |
OMIM:619113 |
Acrorenal Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology |
ORPHA:971 |
Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Limb-girdle muscle weakness, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Pro... |
ORPHA:352479 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss, Renal cell carcinoma, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis,... |
ORPHA:29072 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Short stature |
OMIM:249270 |
Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556030 |
Simple Cryoglobulinemia |
|
Weight loss, Nephrotic syndrome, Abnormality of the kidney, Purpura, Membranoproliferative glomer... |
ORPHA:91139 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypocalciuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria |
OMIM:145980 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Hyperphosphatemia, Anuria, Decreased body weight, Acute tubulointer... |
ORPHA:340 |
Chronic Mucocutaneous Candidiasis |
|
Recurrent urinary tract infections, Hepatitis, Skin ulcer, Hematuria, Abnormality of the nail, Ab... |
ORPHA:1334 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Histidinuria, Hypoplastic toenails, Impaired histidine renal tubular absorption |
ORPHA:2158 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lateral eyebrow, Abnormality of the upper urinary tract, Redundant skin, Abnormal hair pat... |
ORPHA:1807 |
Galloway-Mowat Syndrome 10 |
|
Stage 5 chronic kidney disease, Simplified gyral pattern, Podocyte foot process effacement, Diffu... |
OMIM:619609 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated circulating alanine aminotransferase concentration, Argininosuccinic aciduria, Elevated ... |
OMIM:603471 |
Histidinuria Due To A Renal Tubular Defect |
|
Histidinuria, Hypoplastic toenails, Impaired histidine renal tubular absorption |
OMIM:235830 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level... |
OMIM:618858 |
Autoinflammatory-Pancytopenia Syndrome |
|
Growth delay, Failure to thrive, Proteinuria, Membranoproliferative glomerulonephritis |
OMIM:619858 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Subcutaneous hemorrhage, Bruising susceptibility, Redundant skin, Muscle weakness, Horseshoe kidn... |
ORPHA:2953 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria, Small for gestational age, Elevated circulating creatine kinase concentration, Fai... |
OMIM:619055 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Hyperalaninemia, Redundant neck skin, Lacticaciduria, Hyperprolinemia, Elevated urinary 4-hydroxy... |
OMIM:619003 |
Nephronophthisis 7 |
|
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease |
OMIM:611498 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Short stature, Nephrotic syndrome, Small for gestational age, Mucopolysacchariduria, Proteinuria |
OMIM:215250 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:220 |
Acrogeria |
|
Short stature, Skin ulcer, Fine hair, Telangiectasia of the skin, Prematurely aged appearance, Ex... |
ORPHA:2500 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Laurence-Moon Syndrome |
|
Short stature, Hypoplasia of penis, Renal insufficiency, Obesity, Displacement of the urethral me... |
ORPHA:2377 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Reduced carnitine O-palmitoyltransferase level, Hepatic failure, El... |
ORPHA:228308 |
D-Glyceric Aciduria |
|
Patent ductus arteriosus, Aminoaciduria, Failure to thrive, Growth delay, Nonketotic hyperglycine... |
OMIM:220120 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
Beta-Ketothiolase Deficiency |
|
Hyperuricemia, Weight loss, Ketonuria, Pallor, Hyperammonemia |
ORPHA:134 |
Nephrogenic Diabetes Insipidus |
|
Hyposthenuria, Enuresis nocturna, Short stature, Hydroureter, Failure to thrive, Growth delay, Re... |
ORPHA:223 |
Elastoderma |
|
Premature skin wrinkling, Cutis laxa |
ORPHA:228240 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Pro... |
ORPHA:439232 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal amyloidosis, Renal insufficiency, Proteinuria |
OMIM:134610 |
Birk-Landau-Perez Syndrome |
|
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Increased circulating creatine kina... |
OMIM:617595 |
Acute Promyelocytic Leukemia |
|
Petechiae, Weight loss, Purpura, Hematuria, Bruising susceptibility, Ecchymosis, Muscle weakness |
ORPHA:520 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated urinary N,N-dimethylglycine level, Elevated circulating N,N-dimethylglycine concentratio... |
OMIM:605850 |
Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
Joubert Syndrome 4 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Nephronophthisis, Abnormal renal medulla mor... |
OMIM:609583 |
Hereditary Orotic Aciduria |
|
Patent ductus arteriosus, Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Abnormal toen... |
ORPHA:30 |
Mucopolysaccharidosis, Type X |
|
Dermatan sulfate excretion in urine, Disproportionate short-trunk short stature, Nephrolithiasis |
OMIM:619698 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Tubulointerstitial nephritis, Glomerulopathy, Weight loss, Hematuria, Purpura, Acrocyanosis, Cuti... |
ORPHA:183 |
Parathyroid Carcinoma |
|
Nephroblastoma, Weight loss, Renal hamartoma, Hypophosphatemia, Renal cyst, Muscle weakness, Hype... |
ORPHA:143 |
Thymic Neuroendocrine Tumor |
|
Weight loss, Prominent veins on trunk, Hypercalcemia, Calcium nephrolithiasis |
ORPHA:97289 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Short stature, Decreased serum creatinine, Hypohomocysteinemia, Failure to thrive, Muscle weaknes... |
OMIM:617744 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ... |
OMIM:146255 |
Wolcott-Rallison Syndrome |
|
Decreased body weight, Short stature, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase... |
ORPHA:1667 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcium nephrolithiasis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:36913 |
Neuraminidase Deficiency |
|
Short stature, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialo... |
OMIM:256550 |
Phosphoglycerate Kinase 1 Deficiency |
|
Muscle weakness, Exercise-induced myoglobinuria, Renal insufficiency |
OMIM:300653 |
Hinman Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone... |
ORPHA:84085 |
Nephronophthisis 16 |
|
Patent ductus arteriosus, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysp... |
OMIM:615382 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Hyperuricemia, Acute kidney injury, Renal cell carc... |
ORPHA:93111 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal insufficiency, Hyperammonemia, Growth delay, Renal tubular dysfunction |
ORPHA:289916 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Generalized muscle weakness, Small for gestatio... |
OMIM:609015 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria, Angioedema |
ORPHA:36412 |
Immunodeficiency 91 And Hyperinflammation |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Elevated hepatic transaminase, Membranoproliferati... |
OMIM:619644 |
Jeune Syndrome |
|
Nephronophthisis, Nephropathy, Renal insufficiency, Short stature |
ORPHA:474 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Polycystic kidney dysplasia, Jaundice, Elevated circulating long chain fatty acid ... |
OMIM:214110 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hyperuricemia, Weight loss, Ketonuria, Jaundice, Elevated hepatic transaminase, Pallor, Hyperammo... |
ORPHA:20 |
Urachal Cyst |
|
Dysuria, Pyuria, Hematuria, Urachus fistula, Elevated circulating C-reactive protein concentratio... |
ORPHA:488 |
Nephroblastoma |
|
Nephroblastoma, Hematuria, Weight loss |
ORPHA:654 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Aminoaciduria, Skin ulcer, Hypercholesterolemia, Hyponatremia, Nephrolithiasis, H... |
ORPHA:534 |
Alg1-Cdg |
|
Nephrotic syndrome, Abnormality of the kidney, Decreased liver function, Renal insufficiency, Hyp... |
ORPHA:79327 |
Galactosemia |
|
Hepatic failure, Hypergalactosemia, Increased level of galactitol in plasma, Jaundice, Abnormal e... |
ORPHA:352 |
Addison Disease |
|
Hyperuricemia, Weight loss, Sparse axillary hair, Hyperkalemia, Renal salt wasting, Increased cir... |
ORPHA:85138 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Patent ductus arteriosus, Glomerulopathy, Proteinuria, Abnormal hair morphology, Renal insufficie... |
ORPHA:86818 |
Leukonychia Totalis |
|
Abnormal fingernail morphology, Nephrolithiasis, Abnormal eyelash morphology, Abnormal toenail mo... |
ORPHA:2387 |
Microscopic Polyangiitis |
|
Glomerulopathy, Subcutaneous hemorrhage, Skin ulcer, Hematuria, Cutis marmorata, Oliguria, Erythe... |
ORPHA:727 |
Nephrotic Syndrome, Type 4 |
|
Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme... |
OMIM:256370 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... |
OMIM:266900 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... |
OMIM:610582 |
Propionic Acidemia |
|
Hyperglycinemia, Short stature, Failure to thrive, Increased level of hippuric acid in urine, Hyp... |
OMIM:606054 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Generalized aminoaciduria, Elevated circulating alkaline phosphatase concentrat... |
OMIM:264700 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Purpura, Increased blood urea nitrogen, H... |
OMIM:235400 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Long eyelashes, Severe short stature, Abnormal hair pattern, Highly arched eyebrow, Cur... |
ORPHA:3051 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Abnormal renal insterstitial morphology, Renal insufficienc... |
OMIM:614227 |
Malakoplakia |
|
Dysuria, Urinary urgency, Skin ulcer, Hematuria, Urinary bladder inflammation, Proteinuria, Urina... |
ORPHA:556 |
Fontaine Progeroid Syndrome |
|
Synophrys, Reduced subcutaneous adipose tissue, Coarse hair, Prematurely aged appearance, Gray ma... |
OMIM:612289 |
Necrotizing Enterocolitis |
|
Hyperglycemia, Abnormal glucose homeostasis, Hyponatremia |
ORPHA:391673 |
Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Abnormal blood ion c... |
ORPHA:411629 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Hepatic failure, Nephrotic syndrome, Glomerular sclerosis, Elevated circulating creatine kinase c... |
OMIM:607426 |
Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Acute kidney injury, Hypernatremia, Eleva... |
ORPHA:94093 |
Orotic Aciduria |
|
Hematuria, Oroticaciduria, Failure to thrive, Orotic acid crystalluria, Reduced orotidine 5-prime... |
OMIM:258900 |
Multiple Carboxylase Deficiency |
|
Alopecia, Decreased circulating biotinidase concentration, Abnormal circulating enzyme concentrat... |
ORPHA:148 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Sparse eyebrow, Cutaneous photosensitivity, Tiger tail banding, Short stature, Brittle hair, Redu... |
OMIM:300953 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased C-peptide level, Increased circulating free fatty acid level, Hepatic necrosis, Decreas... |
ORPHA:71212 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Aicardi-Goutieres Syndrome 9 |
|
Weight loss, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Elevated hepatic... |
OMIM:619487 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Telangiectasia, Punctate vasculitis skin lesions, Glomerular sclerosis, Elevated gamma-glutamyltr... |
ORPHA:247691 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamines, Elevated urinary vanillylmandelic acid, Reduced subcutaneous adi... |
ORPHA:653 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma, Posterior lenticonus |
ORPHA:231736 |
Glycogen Storage Disease Ic |
|
Spider hemangioma, Hyperuricemia, Hematuria, Delayed puberty, Decreased glomerular filtration rat... |
OMIM:232240 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Reduced ratio of renal calcium clearance to creatinine clearance, Paratho... |
ORPHA:405 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Hyperechogenic kidneys, Elevated hepatic transaminase |
OMIM:619111 |
Diffuse Neonatal Hemangiomatosis |
|
Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia, Patent ductus arteriosus |
ORPHA:2123 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Hepatocellular necrosis, Jaundice, Hyperbilirubinemia, Elevated hepatic transami... |
OMIM:251880 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephroblastoma, Renal hamartoma, Hypophosphatemia, Renal cyst, Muscle weakness, Hypercalcemia, Ne... |
ORPHA:99880 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis |
ORPHA:3327 |
Frasier Syndrome |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:136680 |
Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Calcinosis, Hyperphosphaturia, Hypophosphatemia, Failure to thrive, Polyuria, Hype... |
OMIM:239200 |
Glycogen Storage Disease Ixb |
|
Muscle weakness, Hyperuricemia, Growth delay, Short stature |
OMIM:261750 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria, Hyperammonemia, Failure to thrive in infancy, Abnormal circulating leucine conc... |
ORPHA:6 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... |
OMIM:143400 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Muscle weakness, Renal insufficiency, Myoglobinuria, Hyperbilirubinemia |
ORPHA:713 |
Tryptophanuria With Dwarfism |
|
Conjunctival telangiectasia, Severe short stature, Tryptophanuria, Cutaneous photosensitivity |
OMIM:276100 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co... |
OMIM:267700 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Patent ductus arteriosus, Rhizomelia, Short stature, Unilateral renal agenesis, Renal hypoplasia,... |
OMIM:617661 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Alopecia, Sparse scalp hair, Dermal translucency, Absent eyelashes, Reduced subcutaneous adipose ... |
OMIM:137940 |
Hereditary Hemorrhagic Telangiectasia |
|
Hepatic failure, Mucosal telangiectasiae, Hematuria, Retinal telangiectasia, Conjunctival telangi... |
ORPHA:774 |
D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Hyperglycinemia, Abnormal circulating enzyme concent... |
ORPHA:941 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Petechiae, Purpura, Hematuria, Ecchymosis, Spontaneous hematomas |
ORPHA:853 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Lissencephaly, Unilateral renal agenesis, Short stature |
ORPHA:281090 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatic necrosis, Dicarboxylic aciduria, Growth delay, Decreased 3-hydroxyacyl-CoA dehydrogenase ... |
OMIM:231530 |
Progeroid Syndrome, Petty Type |
|
Short stature, Brittle hair, Cutis laxa, Reduced subcutaneous adipose tissue, Long eyelashes in i... |
ORPHA:2963 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Gowers sign, Pelvic girdle muscle weakness, Myoglobinuria, Elevated circulating creatine kinase c... |
ORPHA:119 |
Muckle-Wells Syndrome |
|
Renal amyloidosis, Renal insufficiency, Elevated circulating C-reactive protein concentration, Sh... |
OMIM:191900 |
Plasminogen Deficiency, Type I |
|
Nephrolithiasis, Decreased level of plasminogen, Nephritis |
OMIM:217090 |
Wild Type Attr Amyloidosis |
|
Weight loss, Nephrotic syndrome, Elevated circulating alkaline phosphatase concentration, Nephrop... |
ORPHA:330001 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated alkaline phosphatase of bone origin, Short stature, Hypophosphatemia, Generalized aminoa... |
ORPHA:289157 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Elevated circulating alanine aminotransferase concentration, Hyperbilirubinemia, Elevated circula... |
OMIM:619685 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome |
OMIM:249660 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:171876 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Vesicoureteral reflux, Patent ductus arteriosus, Multicystic kidney dys... |
ORPHA:2970 |
Glucoglycinuria |
|
Glycosuria, Hyperglycinuria |
OMIM:138070 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Nephrolithiasis |
ORPHA:369929 |
3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating alanine aminotransferase concentration, 3-Methylglutaconic aciduria, Elevate... |
OMIM:610198 |
Hartnup Disease |
|
Cutaneous photosensitivity, Neutral hyperaminoaciduria, Abnormal urinary color, Short stature |
ORPHA:2116 |
Apparent Mineralocorticoid Excess |
|
Short stature, Decreased circulating renin level, Renal sodium wasting, Hypokalemia, Failure to t... |
ORPHA:320 |
Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Short stature, Cutis laxa, Abnormal subcutaneous fat tissue distribution, Excessive wrinkled skin... |
ORPHA:357074 |
Hypomagnesemia 2, Renal |
|
Generalized muscle weakness, Hypokalemia, Hypocalciuria, Renal magnesium wasting, Renal insuffici... |
OMIM:154020 |
Hyperoxaluria, Primary, Type I |
|
Calcium oxalate nephrolithiasis, Hematuria, Acrocyanosis, Cutis marmorata, Nephrocalcinosis, Rena... |
OMIM:259900 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Intrauterin... |
ORPHA:255249 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Patent ductus arteriosus, Decreased methionine synthase activity, Cystathioninemia, Cystathioninu... |
OMIM:277380 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Renal interstitial immunoglobulin deposits, Decreased liver function... |
ORPHA:449395 |
Megabladder, Congenital |
|
Patent ductus arteriosus, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogen... |
OMIM:618719 |
Myoclonic-Astatic Epilepsy |
|
Frontal balding, Premature skin wrinkling |
ORPHA:1942 |
Autosomal Dominant Cutis Laxa |
|
Cutis laxa, Dermal translucency, Premature skin wrinkling, Bladder diverticulum, Pyelonephritis, ... |
ORPHA:90348 |
Nephrolithiasis, Calcium Oxalate |
|
Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc... |
ORPHA:567546 |
Nail-Patella Syndrome |
|
Short stature, Nephrotic syndrome, Hematuria, Glomerulonephritis, Ridged nail, Proteinuria, Conca... |
OMIM:161200 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Patent ductus arteriosus, Aminoaciduria, Gray matter heterotopia, Polymicrogyria, Elevated circul... |
OMIM:214100 |
Hemophilia B |
|
Poor wound healing, Hematuria |
ORPHA:98879 |
Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Nep... |
OMIM:301050 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hyperalaninemia, Small for gestational age, Failure to thrive, Hypospadias, Mild proteinuria, Gro... |
OMIM:619147 |
Agel Amyloidosis |
|
Cutis laxa, Stage 5 chronic kidney disease, Dermatological manifestations of systemic disorders, ... |
ORPHA:85448 |
Pseudo-Torch Syndrome 1 |
|
Patent ductus arteriosus, Petechiae, Jaundice, Elevated hepatic transaminase, Lissencephaly, Fail... |
OMIM:251290 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
3-Methylglutaconic aciduria, Limb-girdle muscle weakness, Proximal muscle weakness, Lower limb mu... |
OMIM:251900 |
Dahlberg-Borer-Newcomer Syndrome |
|
Short stature, Hypocalcemia, Nephropathy, Renal insufficiency, Anonychia, Generalized hirsutism |
ORPHA:1563 |
Cholera |
|
Hypokalemia, Abnormal blood ion concentration, Hypoglycemia, Hyponatremia, Hypocalcemia |
ORPHA:173 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Hy... |
OMIM:606176 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Premature graying of hair, Papillary renal cell carcinoma, Absent eyelashes, Premature skin wrink... |
ORPHA:363618 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Coloboma, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Patent ductus arteriosus, Nephrotic syndrome, Enlarged kidney, Synophrys, ... |
OMIM:617303 |
Uremic Pruritus |
|
Elevated total serum tryptase, Stage 5 chronic kidney disease, Hypermagnesemia, Increased blood u... |
ORPHA:94059 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Limb-girdle muscle weakness, Renal tubular acidosis, Abnormal erythrocyte e... |
ORPHA:370 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Renal duplication, Renal dysplasia, Urethral stricture, Hematuria, Urinary bladder inflammation, ... |
ORPHA:79403 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Renal insufficiency, Hyperammonemia |
ORPHA:79312 |
Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Weight loss |
ORPHA:100024 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Calcinosis, Hypokalemia, Growth delay, Renal artery stenosis, Hyponatremia, Renal ... |
OMIM:617913 |
Laron Syndrome |
|
Hypoplasia of penis, Severe short stature, Delayed puberty, Truncal obesity, Hypercholesterolemia... |
ORPHA:633 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Renal insufficiency, Hyperc... |
ORPHA:99879 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Premature graying of hair, Severe short stature, Alopecia of scalp, Abnormal hair quantity, Low p... |
ORPHA:2617 |
Microphthalmia, Syndromic 8 |
|
Premature skin wrinkling |
OMIM:601349 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... |
OMIM:617610 |
Majeed Syndrome |
|
Glomerulopathy, Weight loss, Cachexia, Failure to thrive, Proteinuria, Microscopic hematuria |
ORPHA:77297 |
Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Hyponatremia |
ORPHA:79273 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Limb-girdle muscle weakness, Renal tubular acidosis, Short stature, Elevate... |
ORPHA:79240 |
Castleman Disease |
|
Renal insufficiency, Weight loss, Jaundice, Hematuria, Elevated circulating C-reactive protein co... |
ORPHA:160 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... |
ORPHA:100924 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Hepatic failure, Hyperalaninemia, Ketonuria, Increased urine alph... |
OMIM:619355 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Failure to thrive, Hepatic failure, Elevated circulating creatinin... |
OMIM:617872 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Elevated hepatic transaminase, Growth delay, Hypercholesterolemia, Hypertriglyceri... |
OMIM:306000 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Cachexia, Proteinuria |
ORPHA:2774 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Methioninuria, Brittle hair, Hyperhomocystinemia, Cutis marmorata, Failure to... |
OMIM:236200 |
Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers |
ORPHA:498359 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,... |
ORPHA:79303 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Aminoaciduria, Growth delay, Brittle hair |
OMIM:616084 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:612551 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Lower limb muscle weakness, Small for gestational age, Reduced subcutaneous ad... |
OMIM:606721 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Decreased circulating renin level, Hypokalemia, Nephrolithiasis |
OMIM:615474 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Decreased urine output, Hyperbilirubinemia, Elevated hepatic transaminase, E... |
ORPHA:542323 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Neurogenic bladder, Failure to thrive,... |
OMIM:191800 |
Propionic Acidemia |
|
Organic aciduria, Hyperammonemia, Propionyl-CoA carboxylase deficiency |
ORPHA:35 |
Schimke Immunoosseous Dysplasia |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Small for gestational age, Disproportionate s... |
OMIM:242900 |
Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Schwartz-Jampel Syndrome |
|
Abnormal eyebrow morphology, Decreased body weight, Short stature, Long eyelashes in irregular ro... |
ORPHA:800 |
Galloway-Mowat Syndrome |
|
Abnormality of neuronal migration, Short stature, Nephrotic syndrome, Nephropathy, Pachygyria, Pr... |
ORPHA:2065 |
Arima Syndrome |
|
Renal tubular atrophy, Gray matter heterotopia, Stage 5 chronic kidney disease, Renal sodium wast... |
OMIM:243910 |
Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Hematuria |
ORPHA:90308 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal tubular atrophy, Sparse eyebrow, Sparse scalp hair, Nephrotic syndrome, Fine hair, Onycholy... |
OMIM:614748 |
Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
Babesiosis |
|
Jaundice, Renal insufficiency, Hepatic failure |
ORPHA:108 |
Frasier Syndrome |
|
Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segme... |
ORPHA:347 |
Fabry Disease |
|
Angiokeratoma, Delayed puberty, Urinary mulberry cells, Angiokeratoma corporis diffusum, Proteinu... |
OMIM:301500 |
Lysinuric Protein Intolerance |
|
Hyperlysinuria, Ornithinuria, Elevated hepatic transaminase, Glomerulonephritis, Hypercholesterol... |
ORPHA:470 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Tubulointerstitial nephritis, Aminoaciduria, Brittle hair, Elevated hepatic transaminase, Lactica... |
OMIM:124000 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Renal insufficiency, Hypertrichosis, Short stature |
OMIM:247410 |
Fg Syndrome Type 1 |
|
Short stature, Frontal upsweep of hair, Hypospadias, Facial wrinkling, Slender build |
ORPHA:93932 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Short stature, Ketonuria, Glycosuria, Elevated hepatic transaminase, Failure to thrive, Hyperlipi... |
ORPHA:2089 |
Galloway-Mowat Syndrome 3 |
|
Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease, Simplified gyral pattern, Liss... |
OMIM:617729 |
Ataxia-Telangiectasia |
|
Mucosal telangiectasiae, Premature graying of hair, Short stature, Elevated hepatic transaminase,... |
ORPHA:100 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Weight loss, Stage 5 chronic kidney disease, Hematuria, Failure to thrive, Nephropathy, Proteinur... |
ORPHA:1018 |
Hyperlysinemia |
|
Hyperlysinemia, Hyperlysinuria, Hypoornithinemia, Short stature, Thin eyebrow, Abnormal circulati... |
ORPHA:2203 |
Dihydropyrimidinase Deficiency |
|
Reduced dihydropyrimidine dehydrogenase level, Elevated circulating dihydrouracil concentration, ... |
OMIM:222748 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Proteinuria, Skin ulcer |
ORPHA:69126 |
Nail-Patella Syndrome |
|
Toenail dysplasia, High anterior hairline, Nephrotic syndrome, Stage 5 chronic kidney disease, Ab... |
ORPHA:2614 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Elev... |
OMIM:615486 |
Lujo Hemorrhagic Fever |
|
Fulminant hepatitis, Elevated hepatic transaminase, Purpura, Ecchymosis, Muscle weakness, Oliguri... |
ORPHA:319213 |
Ethylene Glycol Poisoning |
|
Cyanosis, Ophthalmoplegia, Decreased urine output, Renal tubular epithelial necrosis, Hematuria, ... |
ORPHA:31826 |
Alkaptonuria |
|
Decreased glomerular filtration rate, Nephrolithiasis, Elevated urinary homogentisic acid |
OMIM:203500 |
Multiple Myeloma |
|
Generalized muscle weakness, Weight loss, Nephrotic syndrome, Acute kidney injury, Abnormality of... |
ORPHA:29073 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hyperkalemia, Type I diabetes mellitus, Hypoglycemia, Hypercalcemia, Hyponatremia |
ORPHA:199299 |
Sebocystomatosis |
|
Nephrolithiasis |
ORPHA:841 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Cyanosis, Nephrotic syndrome, Decreased glomerular filtration rate,... |
ORPHA:488627 |
Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Elevated maternal serum alpha-fetoprotein, Short stature, Stage 5 chronic kidney d... |
OMIM:309000 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Decreased liver function, Renal dysplasia, Renal cyst, Pachygyria, Renal ... |
OMIM:614922 |
Systemic Sclerosis |
|
Alopecia, Gastrointestinal telangiectasia, Telangiectasia, Nail bed telangiectasia, Acute kidney ... |
ORPHA:90291 |
Spondyloenchondrodysplasia |
|
Short stature, Hepatitis, Hematuria, Proteinuria, Disproportionate short-trunk short stature, Chr... |
ORPHA:1855 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Chronic monilial nail infection, Hematuria, Nail dysplasia, Coarse hair, Sparse hair, N... |
OMIM:158310 |
Familial Glucocorticoid Deficiency |
|
Hypoglycemic seizures, Hyperkalemia, Ketotic hypoglycemia, Hyponatremia |
ORPHA:361 |
Arthrogryposis Multiplex Congenita 5 |
|
Growth delay, Premature skin wrinkling, Medullary nephrocalcinosis, Intrauterine growth retardation |
OMIM:618947 |
Gaucher Disease Type 1 |
|
Hematuria, Bruising susceptibility, Delayed puberty, Growth delay, Proteinuria |
ORPHA:77259 |
Osteopetrosis With Renal Tubular Acidosis |
|
Renal tubular acidosis, Short stature, Proximal renal tubular acidosis, Distal renal tubular acid... |
ORPHA:2785 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis, Abnormal renal physiology, Glomerular sclerosis, Increased blood urea nitrogen, Gro... |
OMIM:223900 |
Al Amyloidosis |
|
Weight loss, Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, ... |
ORPHA:85443 |
Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
Nicolaides-Baraitser Syndrome |
|
Dry hair, Sparse scalp hair, Short stature, Periorbital wrinkles, Premature skin wrinkling, Long ... |
OMIM:601358 |
Ochoa Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Renal insufficie... |
ORPHA:2704 |
Donnai-Barrow Syndrome |
|
Widow's peak, Proteinuria |
ORPHA:2143 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Intrauterine growth retardation, Postnatal growth retardation, Multiple bladder dive... |
ORPHA:2728 |
Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Aplasia/Hypoplasia of the eyebrow, Short stature, Brittle hair, Exc... |
ORPHA:1340 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Exercise-induced myoglobinuria, Decreased plasma carnitine, Dicarboxylic... |
OMIM:201475 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia, Elevated circulating alanine aminotransferase concentration, Recurrent urinary tract in... |
OMIM:615559 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Cutis laxa, Brittle hair, Polymicrogyria, Failure to thrive, Redundant skin, Pachygyria, Coarse h... |
OMIM:219200 |
Short Syndrome |
|
Birth length less than 3rd percentile, Small for gestational age, Premature skin wrinkling, Promi... |
OMIM:269880 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Hematuria, Bruising susceptibility |
ORPHA:79 |
Cockayne Syndrome Type 1 |
|
Cutaneous photosensitivity, Elevated hepatic transaminase, Failure to thrive, Increased blood ure... |
ORPHA:90321 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Renal insufficiency, Short stature, Proteinuria |
ORPHA:1307 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria, Growth delay, Elevated hepatic iron concentration |
OMIM:614946 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Decreased liver function, Neonatal death, Myoglobinuria |
OMIM:602199 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Decreased plasma carnitine, Elevated hepatic transaminase, Hyperglycinuria, Medium chain dicarbox... |
OMIM:201450 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperuricemia, Reduced subcutaneous adipose tissue, Prominent superficial veins, Hirsutism, Decre... |
OMIM:604367 |
Congenital Factor V Deficiency |
|
Hematuria, Spontaneous hematomas, Bruising susceptibility |
ORPHA:326 |
Ohdo Syndrome |
|
Sparse eyebrow, Proteinuria, Short stature |
OMIM:249620 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria, Increased circulating ferritin concentration |
OMIM:618886 |
Alkaptonuria |
|
Aminoaciduria, Nephrolithiasis, Abnormality of the nail |
ORPHA:56 |
Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia, Short stature, Frontal upsweep of hair, Fine hair, Hypospadias, Facial w... |
OMIM:305450 |
Postinfectious Vasculitis |
|
Weight loss, Elevated haptoglobin level, Palpable purpura, Hematuria, Membranoproliferative glome... |
ORPHA:48435 |
Canavan Disease |
|
Elevated urinary N-acetylaspartic acid level, Increased circulating N-acetylaspartic acid concent... |
OMIM:271900 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased urinary potassium, F... |
OMIM:613090 |
Argininemia |
|
Oroticaciduria, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Postnatal growth retardation |
OMIM:207800 |
Glutaric Acidemia Type 3 |
|
Ketonuria, Abnormality of circulating enzyme level, Failure to thrive, Elevated circulating gluta... |
ORPHA:35706 |
Mirage Syndrome |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:617053 |
Fabry Disease |
|
Glomerulopathy, Abnormal circulating lipid concentration, Mucosal telangiectasiae, Short stature,... |
ORPHA:324 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Renal tubular acidosis, Short stature, Abnormal erythrocyte enzyme level, E... |
ORPHA:264580 |
Zimmermann-Laband Syndrome 1 |
|
Patent ductus arteriosus, Small nail, Synophrys, Long penis, Hirsutism, Highly arched eyebrow, An... |
OMIM:135500 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Failure to thrive, Decreased liver function, Elevated circulating creat... |
OMIM:608104 |
Wiedemann-Rautenstrauch Syndrome |
|
Broad eyebrow, Reduced subcutaneous adipose tissue, Long penis, Sparse eyelashes, Prematurely age... |
OMIM:264090 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperuricemia, Hypernatriuria, Increased circulating renin level, Plethora,... |
ORPHA:90041 |
Kanzaki Disease |
|
Aminoaciduria, Petechiae, Increased urinary O-linked sialopeptides, Telangiectasia of the oral mu... |
OMIM:609242 |
Renal Nutcracker Syndrome |
|
Weight loss, Hematuria, Renal artery stenosis, Proteinuria, Microscopic hematuria |
ORPHA:71273 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Decreased methionine synthase activity, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni... |
OMIM:277410 |
Bruck Syndrome 2 |
|
Short stature, Hydroxyprolinuria |
OMIM:609220 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperuricemia, Hyperlipidemia, Short stature |
ORPHA:364 |
Transcobalamin Deficiency |
|
Acute kidney injury, Methylmalonic aciduria |
ORPHA:859 |
Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Patent ductus arteriosus, Recurr... |
ORPHA:33001 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria |
ORPHA:2715 |
Cockayne Syndrome B |
|
Dry hair, Cutaneous photosensitivity, Prematurely aged appearance, Small for gestational age, Red... |
OMIM:133540 |
Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:427 |
Pulmonary Alveolar Microlithiasis |
|
Abnormal circulating calcium concentration, Cyanosis, Weight loss, Fatigable weakness, Increased ... |
ORPHA:60025 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
ORPHA:90790 |
Nephrotic Syndrome, Type 21 |
|
Stage 5 chronic kidney disease, Podocyte foot process effacement, Steroid-resistant nephrotic syn... |
OMIM:618594 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Increased circulating renin level, Neonatal hypoglycemia, Hyponatremia |
ORPHA:90791 |
Rhyns Syndrome |
|
Short stature, Total ophthalmoplegia, Nephronophthisis, Renal insufficiency, Chronic kidney disease |
OMIM:602152 |
Relapsing Polychondritis |
|
Glomerulopathy, Alopecia, Hepatitis, Hematuria, Purpura, Proteinuria, Erythema, Renal insufficiency |
ORPHA:728 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Stage 5 chronic kidney disease, Decreased adipose tissue around neck, Pro... |
OMIM:608612 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat... |
OMIM:603553 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Muscle weakness, Hyperuricemia |
ORPHA:371 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Stage 5 chronic kidney disease, Nephritis, Thickened glo... |
OMIM:609057 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, ... |
OMIM:615751 |
Bacterial Toxic-Shock Syndrome |
|
Recurrent urinary tract infections, Hepatitis, Hypocalcemia, Elevated circulating creatine kinase... |
ORPHA:36234 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Micropenis, Hypercalcemia, Intrauterine growth retardation, Hypercalciuria, Postnata... |
OMIM:614732 |
Osteogenesis Imperfecta, Type X |
|
Nephrolithiasis, Rhizomelia, Short stature |
OMIM:613848 |
Sacral Defect With Anterior Meningocele |
|
Urinary retention, Neurogenic bladder |
OMIM:600145 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Thick hair, Progeroid facial appearance, Pachygyria, Intrauterine growth retardation, Postnatal g... |
ORPHA:357058 |
Morgagni-Stewart-Morel Syndrome |
|
Obesity, Hirsutism, Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Wiedemann-Rautenstrauch Syndrome |
|
Dilatation of renal calices, Synophrys, Reduced subcutaneous adipose tissue, Progeroid facial app... |
ORPHA:3455 |
Hyperoxaluria, Primary, Type Iii |
|
Calcium oxalate nephrolithiasis, Hyperoxaluria |
OMIM:613616 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Elevated hepatic transaminase, Hirsutism, Hypertriglyceridem... |
OMIM:608594 |
Goodpasture Syndrome |
|
Cyanosis, Glomerular crescent formation, Weight loss, Pallor, Cylindruria, Glomerulonephritis, Er... |
OMIM:233450 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
Thanatophoric Dysplasia Type 1 |
|
Patent ductus arteriosus, Gray matter heterotopia, Abnormality of the kidney, Redundant skin, Let... |
ORPHA:1860 |
Tyrosinemia, Type I |
|
Hypermethioninemia, Hepatic failure, Enlarged kidney, Elevated hepatic transaminase, Glomerular s... |
OMIM:276700 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Optic disc pallor |
OMIM:618970 |
Whipple Disease |
|
Insulin resistance, Hyponatremia |
ORPHA:3452 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Proximal tubulopathy, Stage 3 chronic kidney disease, Proximal muscle weakness, Short stature, Hy... |
OMIM:619743 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydronephrosis |
OMIM:613390 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, Short stature, Small for gestational age, Elevated hepatic transaminase, Delayed pubert... |
ORPHA:2959 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Angioedema, Weight loss, Nephrotic syndrome, Hepatitis, Elevated he... |
ORPHA:139402 |
3-Methylglutaconic Aciduria Type 7 |
|
3-Methylglutaconic aciduria, Elevated hepatic transaminase, Renal cyst, Growth delay, Nephrocalci... |
ORPHA:445038 |
Osteootohepatoenteric Syndrome |
|
Grade II vesicoureteral reflux, Prolonged neonatal jaundice, Weight loss, Hypokalemia, Failure to... |
OMIM:619377 |
Xeroderma Pigmentosum |
|
Aminoaciduria, Alopecia, Cutaneous photosensitivity, Telangiectasia, Short stature, Failure to th... |
ORPHA:910 |
Geroderma Osteodysplasticum |
|
Cutis laxa, Premature skin wrinkling, Severe short stature, Progeroid facial appearance, Neonatal... |
OMIM:231070 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Elevated hepatic transaminase, Hirsutism, Elevated hemoglobi... |
OMIM:269700 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia |
ORPHA:27 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Short stature, Small for gestational age, Failure to thrive, Progeroid facial appearance, Slender... |
ORPHA:50811 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Renal Coloboma Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... |
ORPHA:1475 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Proximal tubulopathy, Nephrotic syndrome, Abnormal subcutaneous fat tissue distribution, Elevated... |
OMIM:212065 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Weight loss, Skin ulcer, Hematuria, Purpura, Ureteral stenosis, Elevated circulat... |
ORPHA:900 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:256100 |
Moderate Hemophilia A |
|
Hematuria, Spontaneous hematomas, Subcutaneous hemorrhage |
ORPHA:169805 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Proximal muscle weakness, Exercise-induced myoglobinuria, Pelvic girdle muscle weakness, Elevated... |
OMIM:607155 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Short stature, Small for gestational age, Sparse axillary hair, Sparse facial hair, Failure to th... |
OMIM:608154 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level |
OMIM:618856 |
Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Nocturia, Elevated ... |
ORPHA:230 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hyperalaninemia, Proximal muscle weakness, Stage 5 chronic kidney disease, Lacticaciduria, Failur... |
OMIM:618250 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Alström Syndrome |
|
Elevated hepatic transaminase, Dorsocervical fat pad, Glomerulonephritis, Frontal balding, Hirsut... |
ORPHA:64 |
Q Fever |
|
Weight loss, Hepatitis, Elevated hepatic transaminase, Purpura, Hematuria, Muscle weakness |
ORPHA:781 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:604387 |
Ogden Syndrome |
|
Patent ductus arteriosus, Sparse eyebrow, Short stature, Cutis laxa, Minimal subcutaneous fat, En... |
OMIM:300855 |
Alg12-Cdg |
|
Hypocholesterolemia, Recurrent hypoglycemia, Hyponatremia, Retinal detachment, Hypoalbuminemia |
ORPHA:79324 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration, Failure ... |
OMIM:251120 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Urinary incontinence, Short stature, Decreased serum creatinine, Decreased HDL cholesterol concen... |
OMIM:618885 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency, Focal segmenta... |
OMIM:254900 |
Bernard-Soulier Syndrome |
|
Petechiae, Bruising susceptibility, Macroscopic hematuria, Partially duplicated kidney, Spontaneo... |
ORPHA:274 |
Myopathy With Lactic Acidosis, Hereditary |
|
Ophthalmoparesis, Elevated circulating creatine kinase concentration, Muscle weakness, Distal mus... |
OMIM:255125 |
Multiple Osteochondromas |
|
Short stature, Urinary retention |
ORPHA:321 |
Bartter Syndrome Type 4 |
|
Impaired renal concentrating ability, Acute kidney injury, Stage 5 chronic kidney disease, Small ... |
ORPHA:89938 |
Martin-Probst Syndrome |
|
Telangiectasia, Short stature, Proteinuria, Renal insufficiency, Hypoplastic nipples, Micropenis,... |
OMIM:300519 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Short stature, Renal dysplasia, Hypoplasia of penis, Telangiectasia of the skin, Renal hypoplasia... |
ORPHA:85321 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchlor... |
OMIM:602522 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Muscle weakness, Small for gestational age, Ketonuria |
OMIM:618857 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... |
OMIM:618061 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Progeroid facial appearance, Proteinuria, Hypertriglyce... |
ORPHA:79086 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal dysplasia, Elevated amniotic fluid alpha-fetoprotein, Hypospadias, Renal insufficiency, Int... |
ORPHA:96179 |
Galloway-Mowat Syndrome 1 |
|
Small nail, Short stature, Nephrotic syndrome, Small for gestational age, Diffuse mesangial scler... |
OMIM:251300 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Increased blood urea nitrogen, Ureteropelvic junction obstruction, Elevated circ... |
OMIM:154230 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic failure, Short stature, Nephronophthisis, Obesity, Chronic kidney disease |
OMIM:615630 |
Cockayne Syndrome A |
|
Dry hair, Cutaneous photosensitivity, Short stature, Prematurely aged appearance, Reduced subcuta... |
OMIM:216400 |
Werner Syndrome |
|
Lack of skin elasticity, Sparse scalp hair, Pili torti, Premature graying of hair, Short stature,... |
ORPHA:902 |
Sickle Cell Disease |
|
Jaundice, Renal insufficiency, Hematuria |
OMIM:603903 |
Boutonneuse Fever |
|
Renal insufficiency, Elevated hepatic transaminase, Petechiae |
ORPHA:83313 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Renal duplication, Small nail, Short stature, Long eyelashes, Nail dysplasia, Nephrocalcinosis, N... |
OMIM:268310 |
Amme Complex |
|
Hematuria, Intrauterine growth retardation |
OMIM:300194 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Abnormality of the kidney, Nephrolithiasis |
ORPHA:521445 |
Chronic Graft Versus Host Disease |
|
Alopecia, Skin vesicle, Weight loss, Phimosis, Skin ulcer, Hematuria, Elevated hepatic transamina... |
ORPHA:99921 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Absent lower eyelashes, Aged leonine appearance, Distichiasis, Sparse hair, Low anterior hairline |
OMIM:227260 |
Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
Sarcoidosis |
|
Tubulointerstitial nephritis, Alopecia, Hepatic failure, Proximal muscle weakness, Weight loss, H... |
ORPHA:797 |
Severe Hemophilia A |
|
Poor wound healing, Macroscopic hematuria, Bruising susceptibility |
ORPHA:169802 |
Meningococcal Meningitis |
|
Renal insufficiency, Purpura, Elevated circulating C-reactive protein concentration, Petechiae |
ORPHA:33475 |
Burkitt Lymphoma |
|
Increased circulating lactate dehydrogenase concentration, Hyperuricemia |
ORPHA:543 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Elevated circulating creatine kinase concentration, Distal lower limb muscle weakness, Proximal m... |
ORPHA:206549 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Elevated urinary norepinephrine, Proteinuria, Hypercalcemia |
OMIM:171420 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Congenital megaureter, Enlarged kidney, Large for gestatio... |
ORPHA:116 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Renal artery stenosis, Proteinuria |
OMIM:209010 |
Renal Agenesis |
|
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena... |
ORPHA:411709 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short stature, Jaundice, Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Conjugated hype... |
OMIM:208500 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephroblastoma, Nephropathy, Hypospadias, Renal insufficiency, Obesity |
OMIM:194072 |
Diffuse Cutaneous Systemic Sclerosis |
|
Skin ulcer, Muscle weakness, Oliguria, Telangiectasia of the skin, Renal insufficiency |
ORPHA:220393 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Short stature, Hepatitis, Abnormal renal tubule morphology, Portal hypertens... |
ORPHA:440713 |
Senior-Boichis Syndrome |
|
Increased total bilirubin, Abnormal renal insterstitial morphology, Stage 5 chronic kidney diseas... |
ORPHA:84081 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Cystathioninemia, Lower limb muscle weakness, Hyperhomocystinemia, Hypomethioninemia, Abnormal ci... |
ORPHA:395 |
Rift Valley Fever |
|
Hepatitis, Jaundice, Elevated hepatic transaminase, Hematuria, Muscle weakness |
ORPHA:319251 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency, Cyanosis |
OMIM:617478 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Obesity, Truncal obesity |
OMIM:615986 |
Isovaleric Acidemia |
|
Hyperglycinuria |
OMIM:243500 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Hyperglycinemia, Methylmalonic acidemia, Stage 5 chronic kidney dis... |
OMIM:251000 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Ketonuria, Elevated hepatic transaminase, Eleva... |
OMIM:616878 |
Bor Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Facial palsy, Uret... |
ORPHA:107 |
Cranioectodermal Dysplasia 3 |
|
Ectodermal dysplasia, Rhizomelia, Short stature, Cutis laxa, Stage 5 chronic kidney disease, Shor... |
OMIM:614099 |
Pituitary Apoplexy |
|
Hypoglycemia, Hyponatremia |
ORPHA:95613 |
Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Premature graying of hair, Generalized hypopigmentation of hair, Short stature... |
ORPHA:3322 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Thickened gl... |
OMIM:615862 |
Melas |
|
Proximal tubulopathy, Short stature, Progressive external ophthalmoplegia, Failure to thrive, Nep... |
ORPHA:550 |
Holoprosencephaly |
|
Optic atrophy, Diabetes mellitus, Hypoglycemia, Iris coloboma, Cyclopia, Chorioretinal coloboma, ... |
ORPHA:2162 |
Juvenile Paget Disease |
|
Hyperuricemia, Short stature |
ORPHA:2801 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Hyperlipidemia |
ORPHA:329249 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Glycosuria, Moderate postnatal growth retardation, Nephropath... |
ORPHA:69076 |
Hepatocellular Carcinoma |
|
Type II diabetes mellitus, Hyperbilirubinemia, Hypokalemia, Hypoglycemia, Hypercalcemia, Hyponatr... |
ORPHA:88673 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Tubulointerstitial nephritis, Aminoaciduria, Renal Fanconi syndrome, Weight loss, Beta 2-microglo... |
ORPHA:91500 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Palmoplantar cutis laxa, Bladder diverticulum, Bruising susceptibility, Muscle weakness, Poor wou... |
OMIM:225400 |
Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Bilateral renal agenesis, Renal dysplasia |
OMIM:191830 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ketonuria, Elevated hepatic transaminase, Failure to thrive, Hyperammonemia, Growth delay, Acute ... |
OMIM:615453 |
Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Paget Disease Of Bone 2, Early-Onset |
|
Elevated circulating alkaline phosphatase concentration, Hypercalcemia, Hydroxyprolinuria |
OMIM:602080 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperuricemia, Generalized hirsutism, Prominent veins on trunk |
ORPHA:79083 |
Refsum Disease |
|
Renal insufficiency, Dry skin, Nail dysplasia |
ORPHA:773 |
Cocaine Intoxication |
|
Tubulointerstitial nephritis, Acute kidney injury, Hematuria, Elevated circulating creatine kinas... |
ORPHA:90068 |
Williams Syndrome |
|
Abnormal circulating lipid concentration, Abnormality of the bladder, Elevated circulating creati... |
ORPHA:904 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Patent ductus arteriosus, Thick hair, Nephrotic syndrome, Enlarged kidney, Long eyelashes, Hypoal... |
ORPHA:505248 |
Congenital Factor Ii Deficiency |
|
Microscopic hematuria |
ORPHA:325 |
Autoerythrocyte Sensitization Syndrome |
|
Hematuria, Bruising susceptibility, Ecchymosis |
ORPHA:324636 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Acute hyperammonemia, 3-hydroxyisovaleric aciduria, Failure to thrive, Elevated urinar... |
OMIM:210200 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Optic atrophy, Elevated circulating creatine kinase concentration, Hyperammonemia, Optic neuropat... |
OMIM:610505 |
Pearson Syndrome |
|
Cutaneous photosensitivity, Hepatic failure, Hyperalaninemia, Ophthalmoplegia, Glycosuria, Small ... |
ORPHA:699 |
Hawkinsinuria |
|
4-hydroxyphenylacetic aciduria, Hypertyrosinemia, Failure to thrive, Hawkinsinuria, 4-Hydroxyphen... |
OMIM:140350 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyelashes, Premature skin wrinkling, Hypoplastic fingernail, Redundant skin, Dry skin, Abs... |
OMIM:200110 |
Gaucher Disease Type 3 |
|
Ophthalmoplegia, Hematuria, Delayed puberty, Growth delay, Proteinuria |
ORPHA:77261 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low posterior hairline, Prematurely aged appearance, Short stature, Abnormal toenail morphology |
ORPHA:1387 |
Calciphylaxis |
|
Stage 5 chronic kidney disease, Hyperphosphatemia, Skin ulcer, Cutis marmorata |
ORPHA:280062 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Abnormal circulating lipid concentration, Decreased body weight, Weight loss, Glycosuri... |
ORPHA:2298 |
Liver Disease, Severe Congenital |
|
Aminoaciduria, Elevated hepatic transaminase, Elevated circulating alpha-fetoprotein concentratio... |
OMIM:619991 |
Shigellosis |
|
Hypoglycemia, Abnormal blood ion concentration, Hyponatremia |
ORPHA:810 |
Lymphatic Filariasis |
|
Nephrotic syndrome, Abnormality of the kidney, Hematuria, Glomerulonephritis, Proteinuria, Urethr... |
ORPHA:2035 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity, Rhizomelia, Stage 1 chronic kidney disease |
OMIM:618821 |
Barber-Say Syndrome |
|
Sparse eyebrow, Dermal translucency, Absent nipple, Premature skin wrinkling, Redundant skin, Dry... |
OMIM:209885 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Proteinuria, Weight loss, Pallor |
ORPHA:35858 |
Acquired Von Willebrand Syndrome |
|
Hematuria, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:99147 |
Stuve-Wiedemann Syndrome 1 |
|
Premature skin wrinkling, Sparse hair, Short stature |
OMIM:601559 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyperkalemia, Recurrent hypoglycemia, Hyponatremia |
ORPHA:293978 |
Cornelia De Lange Syndrome 1 |
|
Vesicoureteral reflux, Short stature, Synophrys, Long eyelashes, Cutis marmorata, Renal cyst, Red... |
OMIM:122470 |
17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Elevated hepatic transamin... |
ORPHA:261265 |
Pseudoxanthoma Elasticum |
|
Lack of skin elasticity, Striae distensae, Bruising susceptibility, Telangiectasia of the skin, N... |
ORPHA:758 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Renal steatosis, Cyanosis, Hepatic failure, Elevated circulating alanine aminotransferase concent... |
OMIM:261680 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Sparse eyebrow, Hypertriglyceridemia, Short stature, Elevated hepatic transaminase, Progeroid fac... |
OMIM:619127 |
Hermansky-Pudlak Syndrome 1 |
|
Albinism, Bruising susceptibility, Ecchymosis, Hypopigmentation of hair, Renal insufficiency |
OMIM:203300 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Hypoglycemia, Neonatal hyperb... |
ORPHA:3008 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hemolytic-uremic syndrome, Methylmalonic aciduria, Glomerulopathy, Methylmalonic acidemia, Ketonu... |
ORPHA:79282 |
Joubert Syndrome 3 |
|
Nephronophthisis, Frontal polymicrogyria, Highly arched eyebrow, Stage 5 chronic kidney disease |
OMIM:608629 |
Congenital Factor X Deficiency |
|
Hematuria, Spontaneous hematomas, Bruising susceptibility |
ORPHA:328 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Vesicoureteral reflux, Synophrys, Hypoplasia of penis, Failure to thrive, Growth delay, Renal ins... |
ORPHA:96147 |
Sepsis In Premature Infants |
|
Cyanosis, Decreased body weight, Petechiae, Small for gestational age, Jaundice, Purpura, Pallor,... |
ORPHA:90051 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Rhizomelia, Short stature, Hypospadias, Renal insufficiency, Failure t... |
OMIM:611209 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Stage 5 chronic kidney disease, Proteinuria |
OMIM:219900 |
Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Elevated circulating alkaline phosp... |
ORPHA:437 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Neonatal death, Enlarged kidney, Polycystic kidney dysplasi... |
OMIM:263200 |
Joubert Syndrome With Oculorenal Defect |
|
Nephropathy, Renal insufficiency, Highly arched eyebrow, Abnormality of neuronal migration |
ORPHA:2318 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Hyperuricemia |
OMIM:308950 |
Distal Monosomy 10Q |
|
Patent ductus arteriosus, Vesicoureteral reflux, Hypoplastic toenails, Short stature, Acute kidne... |
ORPHA:96148 |
Legius Syndrome |
|
Nephroblastoma, Nephrolithiasis, Short stature, Male urethral meatus stenosis |
ORPHA:137605 |
Schinzel-Giedion Syndrome |
|
Nephroblastoma, Failure to thrive in infancy, Generalized hypertrichosis, Renal cyst, Abnormality... |
ORPHA:798 |
Familial Dysautonomia |
|
Optic atrophy, Hyponatremia |
ORPHA:1764 |
Buschke-Ollendorff Syndrome |
|
Renal insufficiency, Short stature |
ORPHA:1306 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:168558 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Multicystic kidney dysplasia, Brittle hair, Elevated hepatic transaminase, Proteinuria,... |
ORPHA:2750 |
Sheehan Syndrome |
|
Hypoglycemia, Hyponatremia |
ORPHA:91355 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Lack of skin elasticity, Bruising susceptibility, Prominent superficial veins, Failure to thrive,... |
OMIM:612940 |
Kleefstra Syndrome |
|
Vesicoureteral reflux, Short stature, Synophrys, Hypoplasia of penis, Supernumerary nipple, Renal... |
ORPHA:261494 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:289548 |
Hypoplasminogenemia |
|
Nephrolithiasis, Decreased level of plasminogen |
ORPHA:722 |
De Barsy Syndrome |
|
Patent ductus arteriosus, Short stature, Cutis laxa, Dermal translucency, Failure to thrive, Prog... |
ORPHA:2962 |
Joubert Syndrome With Renal Defect |
|
Nephropathy, Renal insufficiency, Highly arched eyebrow, Polymicrogyria |
ORPHA:220497 |
Joubert Syndrome With Hepatic Defect |
|
Multicystic kidney dysplasia, Abnormality of neuronal migration, Elevated hepatic transaminase, C... |
ORPHA:1454 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Gr... |
OMIM:606966 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Rhizomelic arm shortening, Rhizomelic leg shortening, Renal cortical cysts, Short stature, Renal ... |
ORPHA:397715 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency |
OMIM:173900 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Moderate albuminuria, Hematuria,... |
ORPHA:95455 |
Cranioectodermal Dysplasia 4 |
|
Stage 5 chronic kidney disease, Cutis laxa, Short stature, Onychogryposis |
OMIM:614378 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
Variant Abeta2M Amyloidosis |
|
Renal amyloidosis, Chronic kidney disease |
ORPHA:314652 |
Systemic Capillary Leak Syndrome |
|
Abnormal renal tubule morphology, Renal insufficiency, Oliguria, Weight loss |
ORPHA:188 |
Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
Ablepharon Macrostomia Syndrome |
|
Absent eyelashes, Hypoplasia of penis, Fine hair, Redundant skin, Dry skin, Absent eyebrow, Abnor... |
ORPHA:920 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cutis laxa, Dermal translucency, Fine hair, Prominent superficial veins, Sparse hair, Intrauterin... |
OMIM:614438 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Obesity, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:616629 |
Short Syndrome |
|
Alopecia, Weight loss, Severe short stature, Sparse hair, Excessive wrinkled skin |
ORPHA:3163 |
Caudal Regression Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Ectopic kidney, Abnormality of the ureter, Renal insuffici... |
ORPHA:3027 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Pilomatrixoma, Vesicoureteral reflux, Patent ductus arteriosus, Short stature, Recurrent urinary ... |
ORPHA:353281 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Renal cortical cysts, Enlarged kidney, Nephrocalcinosis, N... |
OMIM:130650 |
Sifrim-Hitz-Weiss Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Short stature, Renal insufficiency, Micropenis |
OMIM:617159 |
Osteogenesis Imperfecta |
|
Rhizomelia, Short stature, Cutis laxa, Small for gestational age, Bruising susceptibility, Growth... |
ORPHA:666 |
Atypical Werner Syndrome |
|
Decreased body weight, Premature graying of hair, Skin ulcer, White forelock, Progeroid facial ap... |
ORPHA:79474 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Increased circulating ferritin concentration, Hypoproteinemi... |
ORPHA:167 |
Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:165550 |
Werner Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Short stature, Subcutaneous calcific... |
OMIM:277700 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia, Renal insufficiency |
OMIM:177200 |
Scalp-Ear-Nipple Syndrome |
|
Cutaneous photosensitivity, Short stature, Sparse axillary hair, Pyelonephritis, Unilateral renal... |
OMIM:181270 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529808 |
Methylmalonic Aciduria, Cblb Type |
|
Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Decreased methylmalonyl-CoA mutase activity, ... |
OMIM:251110 |
X-Linked Intellectual Disability, Armfield Type |
|
Patent ductus arteriosus, Aminoaciduria, Short stature, Galactosuria, Organic aciduria |
ORPHA:85276 |
Gitelman Syndrome |
|
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Hypokalemia, Hypocalc... |
ORPHA:358 |
Atresia Of Urethra |
|
Vesicoureteral reflux, Renal dysplasia, Bladder fistula, Hydroureter, Recurrent urinary tract inf... |
ORPHA:105 |
Toxic Epidermal Necrolysis |
|
Weight loss, Dysuria, Skin ulcer, Elevated hepatic transaminase, Erythema, Renal insufficiency, A... |
ORPHA:537 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Hypercholesterolemia, Proteinuria, Obesity, Micropenis |
OMIM:619471 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Hypocalcemia, Unilateral ren... |
ORPHA:2237 |
Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
Amelogenesis Imperfecta, Type Ig |
|
Impaired renal concentrating ability, Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency |
OMIM:204690 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, Ac... |
ORPHA:423 |
Ventriculomegaly With Cystic Kidney Disease |
|
Gray matter heterotopia, Renal corticomedullary cysts, Renal insufficiency |
OMIM:219730 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating uracil concentr... |
OMIM:311250 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
Pheochromocytoma |
|
Elevated urinary norepinephrine, Proteinuria, Hypercalcemia, Renal artery stenosis |
OMIM:171300 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Pilomatrixoma, Vesicoureteral reflux, Patent ductus arteriosus, Short stature, Recurrent urinary ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Pilomatrixoma, Vesicoureteral reflux, Patent ductus arteriosus, Short stature, Recurrent urinary ... |
ORPHA:353277 |
Senior-Loken Syndrome 8 |
|
Stage 5 chronic kidney disease, Pallor, Glomerular subepithelial immune-complex deposits, Global ... |
OMIM:616307 |
Noonan Syndrome With Multiple Lentigines |
|
Short stature, Hypospadias, Growth delay, Abnormal localization of kidney, Intrauterine growth re... |
ORPHA:500 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Alpha-aminoadipic aciduria, Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria |
OMIM:620089 |
Lymphangioleiomyomatosis |
|
Renal angiomyolipoma, Hematuria, Renal neoplasm, Abnormal urinary color, Multiple renal cysts, Un... |
ORPHA:538 |
Methylmalonic Aciduria, Cbla Type |
|
Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Decreased methylmalonyl-CoA mutase activity, ... |
OMIM:251100 |
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, Unilateral renal agenesis, ... |
OMIM:617641 |
Cystic Fibrosis |
|
Elevated hepatic transaminase, Decreased body mass index, Nephrolithiasis, Failure to thrive |
ORPHA:586 |
Lead Poisoning |
|
Tubulointerstitial nephritis, Small for gestational age, Delayed puberty, Increased LDL cholester... |
ORPHA:330015 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, High anterior hairline, Short stature, Decreased... |
ORPHA:438213 |
Stevens-Johnson Syndrome |
|
Weight loss, Dysuria, Elevated hepatic transaminase, Erythema, Renal insufficiency, Acute hepatic... |
ORPHA:36426 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Short stature, Cutis laxa, Progeroid facial appearance, Growth... |
ORPHA:75496 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Short stature |
OMIM:613819 |
Joubert Syndrome 7 |
|
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:611560 |
Feingold Syndrome Type 1 |
|
Patent ductus arteriosus, Vesicoureteral reflux, Short stature, Renal dysplasia, Abnormality of t... |
ORPHA:391641 |
Autism, Susceptibility To, 3 |
|
Ketonuria |
OMIM:608049 |
Glutaric Acidemia I |
|
Ketonuria, Failure to thrive, Elevated circulating glutaric acid concentration, Glutaric aciduria... |
OMIM:231670 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating alanine aminotransferase concentration, Moderate albuminuria, Elevated hepat... |
OMIM:619525 |
Angioosteohypertrophic Syndrome |
|
Skin ulcer, Hematuria, Cutis marmorata, Telangiectasia of the skin |
ORPHA:2346 |
Familial Mediterranean Fever |
|
Nephrotic syndrome, Nephropathy, Erythema, Nephrocalcinosis, Proteinuria, Acute hepatic failure |
ORPHA:342 |
Severe Acute Respiratory Syndrome |
|
Acute kidney injury |
ORPHA:140896 |
Coach Syndrome 1 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Elevated hepatic transamina... |
OMIM:216360 |
Chromosome 17Q12 Deletion Syndrome |
|
Sparse eyebrow, Hypoplasia of the bladder, Multicystic kidney dysplasia, Small nail, Short statur... |
OMIM:614527 |
Nephronophthisis 19 |
|
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Renal interstitial fibrosis, Nephronophth... |
OMIM:616217 |
Wagro Syndrome |
|
Nephroblastoma, Proteinuria, Obesity |
OMIM:612469 |
Hardikar Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Hepatic failure, Hypoplasia of the bladder, Decr... |
OMIM:301068 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
Infection-Related Hemolytic Uremic Syndrome |
|
Diabetes mellitus, Hypocalcemia, Hyperkalemia, Hyponatremia |
ORPHA:544482 |
Avian Influenza |
|
Acute kidney injury, Hepatitis, Elevated hepatic transaminase, Elevated circulating creatine kina... |
ORPHA:454836 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria |
OMIM:222448 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Abnormal circulating selenium concentration, IgA deposition in the glomerulus, Urinary bladder sp... |
ORPHA:79408 |
Enamel-Renal Syndrome |
|
Impaired renal concentrating ability, Nephrocalcinosis, Hypophosphaturia, Nephropathy, Hypocalciu... |
ORPHA:1031 |
Humeroradial Synostosis |
|
Renal insufficiency |
OMIM:236400 |
Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Gray matter heterotopia, Short stature, Abnormal cortical gyration, Polycysti... |
OMIM:311200 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Glycosuria, Short stature, Renal Fanconi syndrome, Stage 5 chronic kidney disease |
OMIM:268315 |
Scleromyxedema |
|
Proximal muscle weakness, Abnormality of the kidney, Elevated circulating creatine kinase concent... |
ORPHA:167635 |
Complement Factor I Deficiency |
|
Glomerulonephritis, Renal insufficiency, Pyelonephritis, Recurrent urinary tract infections |
OMIM:610984 |
Yellow Fever |
|
Elevated circulating alanine aminotransferase concentration, Anuria, Acute kidney injury, Jaundic... |
ORPHA:99829 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Decreased LDL cholesterol concentration, Small for gestational age, Elevated hepatic transaminase... |
ORPHA:404454 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypercholesterolemia, Conjugated hyperbilirubinemia, Elevated circulating alanine aminotransferas... |
OMIM:619534 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria |
OMIM:616095 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Lack of skin elasticity, Alopecia, Abnormal eyebrow morphology, Short stature, Absent eyelashes, ... |
ORPHA:90153 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base... |
OMIM:613550 |
Keppen-Lubinsky Syndrome |
|
Failure to thrive, Progeroid facial appearance, Premature skin wrinkling, Postnatal growth retard... |
ORPHA:435628 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency |
ORPHA:2165 |
Gaucher Disease |
|
Short stature, Hepatitis, Hematuria, Delayed puberty, Elevated circulating C-reactive protein con... |
ORPHA:355 |
Hutchinson-Gilford Progeria Syndrome |
|
Cyanosis, Dystrophic toenail, Lack of skin elasticity, Weight loss, Prominent superficial blood v... |
ORPHA:740 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia, Hyponatremia |
ORPHA:275761 |
Cranioectodermal Dysplasia 1 |
|
Tubulointerstitial nephritis, Hepatic failure, Ectodermal dysplasia, Rhizomelia, Stage 1 chronic ... |
OMIM:218330 |
Aymé-Gripp Syndrome |
|
Patent ductus arteriosus, Sparse scalp hair, Short stature, Long eyelashes, Proteinuria, Breast h... |
ORPHA:1272 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Short stature, Calcinosis, Delayed puberty, Progeroid facial appearance, Hyperlipidemia... |
ORPHA:90154 |
Mercury Poisoning |
|
Acute kidney injury, Hypokalemia, Generalized muscle weakness |
ORPHA:330021 |
Hand-Foot-Genital Syndrome |
|
Vesicoureteral reflux, Small nail, Pyelonephritis, Hypospadias, Ureteropelvic junction obstructio... |
OMIM:140000 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased body weight, Synophrys, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, He... |
OMIM:619475 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Patent ductus arteriosus, Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polyc... |
OMIM:208540 |
Joubert Syndrome 9 |
|
Stage 5 chronic kidney disease |
OMIM:612285 |
Scleroderma |
|
Alopecia, Gastrointestinal telangiectasia, Acute kidney injury, Facial palsy, Elevated circulatin... |
ORPHA:801 |
Scrub Typhus |
|
Renal insufficiency |
ORPHA:83317 |
Multiple Endocrine Neoplasia Type 1 |
|
Weight loss, Nephrolithiasis, Hypercalcemia, Hypercalciuria |
ORPHA:652 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High anterior hairline, Horizontal eyebrow, Curly hair, Sparse lateral eyebrow, Short stature, Re... |
OMIM:619950 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Stage 5 chronic kidney disease, Vesicoureteral reflux, Ureteropelvic junction obstruction |
OMIM:610805 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Neonatal hypoglycemia, H... |
ORPHA:552 |
Cranioectodermal Dysplasia 2 |
|
Patent ductus arteriosus, Sparse eyebrow, Ectodermal dysplasia, Rhizomelia, Short stature, Cutis ... |
OMIM:613610 |
Galloway-Mowat Syndrome 9 |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, ... |
OMIM:619603 |
Senior-Loken Syndrome 3 |
|
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresis |
OMIM:606995 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Decreased circulating free fatty acid level, Increased C-peptide level, Large for gestational age... |
ORPHA:79644 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatic failure, Jaundice, Hematuria, Purpura, Elevated circulating creatine kinase concentration... |
ORPHA:99827 |
Down Syndrome |
|
Renal hypoplasia/aplasia, Prematurely aged appearance, Obesity, Sparse hair |
ORPHA:870 |
Bardet-Biedl Syndrome 17 |
|
Stage 5 chronic kidney disease, Renal cyst, Polyuria, Obesity, Micropenis |
OMIM:615994 |
Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Optic disc coloboma, Optic nerve aplasia, Chorioretinal ... |
OMIM:120200 |
Waldenström Macroglobulinemia |
|
Purpura, Cutis marmorata, Pallor, Renal insufficiency, Urticaria |
ORPHA:33226 |
Campomelia, Cumming Type |
|
Prematurely aged appearance, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
Marburg Hemorrhagic Fever |
|
Petechiae, Jaundice, Hypokalemia, Elevated hepatic transaminase, Bruising susceptibility, Elevate... |
ORPHA:99826 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Weight loss, Ketonuria, Glycosuria, Moderate albuminuria, Abnormality of the upper urinary tract,... |
ORPHA:99885 |
Interstitial Cystitis |
|
Pollakisuria, Urinary urgency, Nocturia, Abnormality of the bladder, Urinary bladder inflammation... |
ORPHA:37202 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
Sickle Cell Anemia |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatinine concen... |
ORPHA:232 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia |
OMIM:618426 |
Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
Eisenmenger Syndrome |
|
Cyanosis, Patent ductus arteriosus, Hyperuricemia, Abnormal B-type natriuretic peptide concentrat... |
ORPHA:97214 |
Kawasaki Disease |
|
Palmoplantar erythema, Hepatitis, Jaundice, Abnormality of nail color, Sterile pyuria, Proteinuria |
ORPHA:2331 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperglycemia, Hyperkalemia, Hyperlipidemia, Hyponatremia |
ORPHA:293987 |
Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polycystic kidney dyspl... |
ORPHA:731 |
Duplication Of Urethra |
|
Vesicoureteral reflux, Urinary incontinence, Penile hypospadias, Anuria, Recurrent urinary tract ... |
ORPHA:237 |
Immunodeficiency 58 |
|
Cutaneous photosensitivity, Short stature, Dysuria, Psoriasiform lesion, Failure to thrive, Scali... |
OMIM:618131 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Sparse scalp hair, Rhizomelia, Short stature, Renal dysplasia, Stage 5 chronic kidney disease, Ac... |
OMIM:266920 |
Hermansky-Pudlak Syndrome |
|
Weight loss, Long eyelashes, Bruising susceptibility, Hypopigmentation of hair, Renal insufficiency |
ORPHA:79430 |
Joubert Syndrome 2 |
|
Nephronophthisis, Failure to thrive, Renal insufficiency, Renal cyst |
OMIM:608091 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Vesicoureteral reflux, Short stature, Renal agenesis, Ectopic kidney, Horseshoe kidney, Renal ins... |
ORPHA:140952 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Renal hypoplasia, Ketonuria |
OMIM:619053 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Abnormal circulating enzyme concentration or activity, Chronic kidney disease |
ORPHA:25 |
Ketamine-Induced Biliary Dilatation |
|
Dysuria |
ORPHA:293807 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Progeroid facial appearance, Sparse hair, Patchy alopecia, Short stature |
OMIM:617763 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Distal upper limb muscle weakness, Neck flexor weakness, Pollakisuria, Lower limb muscle weakness... |
ORPHA:268 |
Acute Interstitial Pneumonia |
|
Cyanosis, Elevated circulating creatinine concentration, Elevated circulating C-reactive protein ... |
ORPHA:79126 |
Citrullinemia, Classic |
|
Episodic ammonia intoxication, Oroticaciduria, Failure to thrive, Hyperammonemia, Hypoargininemia... |
OMIM:215700 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Renal insufficiency, Short stature |
OMIM:226980 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Wrinkly Skin Syndrome |
|
Palmoplantar cutis laxa, Short stature, Short nail, Failure to thrive, Progeroid facial appearanc... |
OMIM:278250 |
Secondary Syringomyelia |
|
Dysuria, Fatigable weakness, Bulbar palsy |
ORPHA:99857 |
Pierson Syndrome |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoproteinemia, Diffuse mesangial sclerosis,... |
OMIM:609049 |
Primary Sclerosing Cholangitis |
|
Spider hemangioma, Renal insufficiency, Elevated alkaline phosphatase of hepatic origin, Weight l... |
ORPHA:171 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Obesity, Growth delay, Proportionate short stature, Hydronephrosis |
OMIM:619269 |
Exercise-Induced Malignant Hyperthermia |
|
Hepatic failure, Hyperphosphatemia, Acute kidney injury, Hyperkalemia, Elevated circulating creat... |
ORPHA:466650 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Thin eyebrow, Bruising susceptibility, Prominent superficial veins, Redundant skin, Low posterior... |
OMIM:618000 |
Exstrophy-Epispadias Complex |
|
Vesicoureteral reflux, Urinary incontinence, Renal duplication, Bladder exstrophy, Absent penis, ... |
ORPHA:322 |
Williams-Beuren Syndrome |
|
Medial flaring of the eyebrow, Premature graying of hair, Vesicoureteral reflux, Small nail, Uret... |
OMIM:194050 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypochloremia, Hyperkalemia, Neonatal hypoglycemia, Hyponatremia |
ORPHA:90794 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse body hair, Ectodermal dysplasia, Sparse scalp hair, Sparse lateral eyebrow, Absent eyelash... |
OMIM:614941 |
Arteriosclerosis, Severe Juvenile |
|
Delayed puberty, Short stature, Chronic kidney disease |
OMIM:208060 |
Trichothiodystrophy |
|
Cutaneous photosensitivity, Aplasia/Hypoplasia of the nails, Tiger tail banding, Sparse scalp hai... |
ORPHA:33364 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Short stature, Dysuria, Growth delay, Upper limb muscle weakness, Hydronephrosis |
ORPHA:101000 |
Erdheim-Chester Disease |
|
Dysuria, Renal insufficiency, Weight loss, Hydronephrosis |
ORPHA:35687 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin |
ORPHA:137608 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Progeroid facial appearance, Ophthalmoplegia, Delayed menarche |
ORPHA:412057 |
Scorpion Envenomation |
|
Ketonuria, Acute kidney injury, Glycosuria, Hypokalemia, Purpura, Elevated circulating aspartate ... |
ORPHA:466677 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Proteinuria, Sparse hair, Nail dysplasia |
OMIM:616682 |
Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Vesicoureteral reflux, Pollakisuria, Congenital posterior urethral valve, U... |
OMIM:618612 |
Pure Autonomic Failure |
|
Dysuria, Urinary incontinence |
ORPHA:441 |
Pyomyositis |
|
Renal insufficiency, Weight loss |
ORPHA:764 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Facial palsy, Epispadias, Hypoplastic fingernail, Severe short stature, Hypospadias, Redundant sk... |
ORPHA:2658 |
Nijmegen Breakage Syndrome |
|
Cutaneous photosensitivity, Pollakisuria, Short stature, Abnormality of neuronal migration, Cache... |
ORPHA:647 |
Cornelia De Lange Syndrome |
|
Synophrys, Thick eyebrow, Vesicoureteral reflux, Multicystic kidney dysplasia, Hypoplasia of peni... |
ORPHA:199 |
Degcags Syndrome |
|
Abnormal renal cortex morphology, Premature graying of hair, Synophrys, Abnormal eyelash morpholo... |
OMIM:619488 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
Leprechaunism |
|
Decreased body weight, Enlarged kidney, Hypokalemia, Reduced subcutaneous adipose tissue, Increas... |
ORPHA:508 |
Orofaciodigital Syndrome Type 3 |
|
Stage 5 chronic kidney disease, Abnormality of hair texture |
ORPHA:2752 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Cutis laxa, Multiple bladder diverticula, Redundant skin, Progeroid facial appearance, Growth del... |
OMIM:613177 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Abnormality of subcutaneous fat tissue, Severe short stature, Excessive wrinkled skin |
ORPHA:1901 |
Joubert Syndrome 6 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:610688 |
Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Chronic active hepatitis, Abnormality of the kidney, Skin ulcer, Pu... |
ORPHA:289390 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria, Simplified gyral pattern, Jaundice, Elevated hepatic transaminase, Obesity |
OMIM:614231 |
Tuberous Sclerosis Complex |
|
Renal angiomyolipoma, Stage 5 chronic kidney disease, Abnormality of the kidney, Polycystic kidne... |
ORPHA:805 |
Meckel Syndrome, Type 7 |
|
Patent ductus arteriosus, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple ... |
OMIM:267010 |
Costello Syndrome |
|
Curly hair, Short stature, Deep-set nails, Thin nail, Redundant neck skin, Failure to thrive, Fra... |
OMIM:218040 |
Alagille Syndrome 1 |
|
Vesicoureteral reflux, Hepatic failure, Multiple small medullary renal cysts, Hypertriglyceridemi... |
OMIM:118450 |
Wrinkly Skin Syndrome |
|
Short stature, Cutis laxa, Excessive skin wrinkling on dorsum of hands and fingers, Failure to th... |
ORPHA:2834 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse eyebrow, Periorbital wrinkles, Hypohidrotic ectodermal dysplasia, Sparse eyelashes, Sparse... |
OMIM:224900 |
Denys-Drash Syndrome |
|
Nephroblastoma, Neonatal death, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidn... |
OMIM:194080 |
Serotonin Syndrome |
|
Acute kidney injury, Hepatic failure |
ORPHA:43116 |
Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base... |
OMIM:613159 |
Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Short stature, Dermal translucency, Prematurely aged... |
ORPHA:286 |
Wolfram Syndrome |
|
Ophthalmoplegia, Recurrent urinary tract infections, Dysuria, Nephropathy, Delayed puberty, Abnor... |
ORPHA:3463 |
Nestor-Guillermo Progeria Syndrome |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Short stature, Prominent superficial veins, Failure ... |
OMIM:614008 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Urinary incontinence, Urinary urgency, Muscle weakness, Pollakisuria |
ORPHA:447753 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypergl... |
OMIM:615812 |
Au-Kline Syndrome |
|
Vesicoureteral reflux, Hydronephrosis, Sparse lateral eyebrow, Supernumerary nipple, Failure to t... |
OMIM:616580 |
Familial Osteodysplasia, Anderson Type |
|
Thick eyebrow, Hyperuricemia |
ORPHA:2769 |
Geroderma Osteodysplastica |
|
Severe short stature, Prematurely aged appearance, Growth delay, Redundant skin |
ORPHA:2078 |
Fanconi Anemia |
|
Patent ductus arteriosus, Abnormal preputium morphology, Recurrent urinary tract infections, Rena... |
ORPHA:84 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating renin level, Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:201750 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cutaneous photosensitivity, Short stature, Cachexia, Prematurely aged appearance, Dry skin, Urtic... |
ORPHA:220295 |
Kid Syndrome |
|
Sparse eyebrow, Trichilemmoma, Scarring alopecia of scalp, Onychogryposis, Failure to thrive, Sca... |
ORPHA:477 |
Seckel Syndrome |
|
Sparse scalp hair, Short stature, Cachexia, Prematurely aged appearance, Intrauterine growth reta... |
ORPHA:808 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Sparse body hair, Sparse eyebrow, Brittle hair, Absent eyelashes, Periorbital wrinkles, Absent ni... |
OMIM:305100 |
Classical Ehlers-Danlos Syndrome |
|
Striae distensae, Bladder diverticulum, Acrocyanosis, Bruising susceptibility, Ecchymosis, Fragil... |
ORPHA:287 |
Split Cord Malformation |
|
Urinary incontinence, Renal duplication, Detrusor sphincter dyssynergia, Neurogenic bladder, Hype... |
ORPHA:573278 |
Acute Liver Failure |
|
Acute kidney injury, Hepatitis, Jaundice, Hepatocellular necrosis, Elevated hepatic transaminase,... |
ORPHA:90062 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Retinal dysplasia, Re... |
OMIM:614643 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Urinary incontinence, Enuresis nocturna, Pollakisuria, Ophthalmoplegia, Foot dorsiflexor weakness... |
ORPHA:171629 |
Saul-Wilson Syndrome |
|
Short stature, Prominent superficial veins, Progeroid facial appearance, Intrauterine growth reta... |
OMIM:618150 |
Premature Aging Syndrome, Penttinen Type |
|
Prominent superficial veins, Failure to thrive, Prematurely aged appearance, Sparse hair |
OMIM:601812 |
Branchioskeletogenital Syndrome |
|
Synophrys, Periorbital wrinkles, Absent nipple, Penoscrotal hypospadias, Ureteral stenosis, Bladd... |
ORPHA:1299 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Premature graying of hair, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, Abnorma... |
ORPHA:280365 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Short stature, Premature graying of hair, Sparse axillary hair, Elevated hepatic transaminase, Fa... |
OMIM:256040 |
Persistent Hyperplastic Primary Vitreous |
|
Tractional retinal detachment, Remnants of the hyaloid vascular system, Hyaloid vascular remnant ... |
ORPHA:91495 |
Familial Mediterranean Fever |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Elevated circulating C-reactive protein conce... |
OMIM:249100 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Short stature, Azotemia, Intrauterine growth retardation, Renal hypoplasia, Abdominal o... |
OMIM:619321 |
Autoimmune Lymphoproliferative Syndrome |
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Hepatitis, Bruising susceptibility, Glomerulonephritis, Renal insufficiency, Urticaria |
ORPHA:3261 |
Townes-Brocks Syndrome |
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Patent ductus arteriosus, Vesicoureteral reflux, Urethral valve, Short stature, Abnormality of th... |
ORPHA:857 |
Leptospirosis |
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Hyperproteinemia, Acute kidney injury, Hepatitis, Jaundice, Cellular urinary casts, Elevated seru... |
ORPHA:509 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
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Homocystinuria |
OMIM:601552 |
Aspartylglucosaminuria |
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Aspartylglucosaminuria, Angiokeratoma corporis diffusum, Short stature |
OMIM:208400 |
Cockayne Syndrome Type 2 |
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Progeroid facial appearance, Intrauterine growth retardation |
ORPHA:90322 |
Zygomycosis |
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Hepatitis, Renal insufficiency, External ophthalmoplegia, Nephritis |
ORPHA:73263 |
Joubert Syndrome 5 |
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Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kidney disease, Reduc... |
OMIM:610188 |
African Trypanosomiasis |
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Urinary incontinence, Alopecia, Weight loss, Jaundice, Muscle weakness, Renal insufficiency |
ORPHA:3385 |
Sotos Syndrome |
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Patent ductus arteriosus, Vesicoureteral reflux, Small nail, Prolonged neonatal jaundice, Congeni... |
ORPHA:821 |
Coccidioidomycosis |
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Abnormality of the kidney, Renal insufficiency, Abnormality of the bladder |
ORPHA:228123 |
Digeorge Syndrome |
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Patent ductus arteriosus, Short stature, Renal dysplasia, Hypocalcemia, Unilateral renal agenesis... |
OMIM:188400 |
Behçet Disease |
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Glomerulopathy, Renal insufficiency, Weight loss |
ORPHA:117 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Aplasia of the sweat glands, Bruising susceptibility, Growth delay, Dry skin, Chronic kidney disease |
ORPHA:642 |
Igg4-Related Submandibular Gland Disease |
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Abnormality of the kidney, Renal insufficiency |
ORPHA:449432 |
Hartsfield Syndrome |
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Hypernatremia |
OMIM:615465 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
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Reduced subcutaneous adipose tissue, Progeroid facial appearance, Intrauterine growth retardation... |
OMIM:616914 |
Chromosome Xp11.3 Deletion Syndrome |
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Progeroid facial appearance, Short stature |
OMIM:300578 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:221900 |
Arterial Tortuosity Syndrome |
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Redundant skin, Prematurely aged appearance, Telangiectasia of the skin |
ORPHA:3342 |
Aspartylglucosaminuria |
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Vascular skin abnormality, Aspartylglucosaminuria |
ORPHA:93 |
Immunodeficiency 82 With Systemic Inflammation |
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Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:619381 |
Listeriosis |
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Acute kidney injury, Jaundice, Pyelonephritis |
ORPHA:533 |
Cutis Laxa, Autosomal Dominant 1 |
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Cutis laxa, Redundant skin, Progeroid facial appearance, Prematurely aged appearance, Poor wound ... |
OMIM:123700 |
Oculo-Palato-Cerebral Syndrome |
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Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Townes-Brocks Syndrome 1 |
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Vesicoureteral reflux, Multicystic kidney dysplasia, Urethral valve, Renal dysplasia, Small for g... |
OMIM:107480 |
Blau Syndrome |
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Stage 5 chronic kidney disease, Skin ulcer, Clear cell renal cell carcinoma, Nephropathy, Erythem... |
ORPHA:90340 |
Acromegaly |
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Dysuria, Synophrys, Long penis, Abnormal fingernail morphology, Abnormal toenail morphology, Gene... |
ORPHA:963 |
Arterial Tortuosity Syndrome |
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Telangiectases of the cheeks, Progeroid facial appearance, Cutis laxa, Bruising susceptibility |
OMIM:208050 |
Floating-Harbor Syndrome |
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Short stature, Congenital posterior urethral valve, Stage 5 chronic kidney disease, Polycystic ki... |
ORPHA:2044 |
Xeroderma Pigmentosum, Complementation Group B |
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Cutaneous photosensitivity, Progeroid facial appearance, Short stature |
OMIM:610651 |
Pudendal Neuralgia |
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Dysuria, Pollakisuria |
ORPHA:60039 |
Acromelic Frontonasal Dysostosis |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Somatomammotropinoma |
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Dysuria, Synophrys, Abnormal fingernail morphology, Abnormal toenail morphology, Generalized hirs... |
ORPHA:314769 |
Pmm2-Cdg |
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Nephrotic syndrome, Abnormal subcutaneous fat tissue distribution, Abnormal renal tubule morpholo... |
ORPHA:79318 |
Cerebrotendinous Xanthomatosis |
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Prolonged neonatal jaundice, Abnormal circulating enzyme concentration or activity, Prematurely a... |
ORPHA:909 |
Full Nf2-Related Schwannomatosis |
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Remnants of the hyaloid vascular system |
ORPHA:637 |
Holoprosencephaly 2 |
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Iris coloboma, Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
OMIM:157170 |
Keppen-Lubinsky Syndrome |
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Failure to thrive, Progeroid facial appearance, Lack of facial subcutaneous fat |
OMIM:614098 |
Microphthalmia, Syndromic 2 |
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Retinal detachment, Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:300166 |
Norrie Disease |
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Retinal detachment, Diabetes mellitus, Remnants of the hyaloid vascular system, Optic atrophy |
ORPHA:649 |
Neuroocular Syndrome |
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Remnants of the hyaloid vascular system, Iris coloboma, Lens coloboma |
OMIM:619539 |