Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Nephrotic Syndrome, Type 17 |
|
Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618176 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria |
OMIM:607832 |
Focal Segmental Glomerulosclerosis 5 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:613237 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... |
OMIM:601894 |
Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Uridine-Cytidineuria |
|
Elevated urinary cytidine, Elevated urinary uridine level |
OMIM:618477 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:614131 |
Hematuria, Benign Familial, 1 |
|
Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... |
OMIM:616818 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:613944 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... |
OMIM:137950 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... |
OMIM:616892 |
Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... |
OMIM:603965 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria |
OMIM:161900 |
C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity |
ORPHA:468726 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Hydroxyprolinemia |
|
Microscopic hematuria |
OMIM:237000 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
Complement Factor H Deficiency |
|
Glomerular subendothelial electron-dense deposits, Hematuria, Thickened glomerular basement membr... |
OMIM:609814 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome |
OMIM:614199 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:161950 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Minimal change glomerulonep... |
OMIM:617609 |
Medullary Sponge Kidney |
|
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis |
ORPHA:1309 |
Familial Alzheimer-Like Prion Disease |
|
Depression, Attention deficit hyperactivity disorder, Emotional lability, Anxiety |
ORPHA:280397 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... |
OMIM:615008 |
Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613913 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... |
ORPHA:54370 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
Congenital Primary Megaureter |
|
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... |
ORPHA:617 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... |
OMIM:619155 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Proteinuria, Hematuria |
ORPHA:2134 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Nephrotic Syndrome, Type 2 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:600995 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... |
OMIM:614650 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... |
ORPHA:84090 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Hematuria |
OMIM:314000 |
Angioma, Hereditary Neurocutaneous |
|
Hematuria |
OMIM:106070 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... |
OMIM:610725 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:608709 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
Adenine Phosphoribosyltransferase Deficiency |
|
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Renal insufficiency, Nephro... |
OMIM:614723 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Depression, Anxiety |
OMIM:164230 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:618349 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Amyloidosis, Familial Visceral |
|
Nephropathy, Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:105200 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Focal segmental glo... |
OMIM:613092 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Nephrotic syndrome |
OMIM:617006 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria |
OMIM:260000 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri... |
ORPHA:567544 |
Primary Hyperoxaluria Type 3 |
|
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... |
ORPHA:93600 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
Adenine Phosphoribosyltransferase Deficiency |
|
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... |
ORPHA:976 |
Dystonia 11, Myoclonic |
|
Anxiety, Depression, Panic attack, Agoraphobia, Alcoholism |
OMIM:159900 |
Focal Segmental Glomerulosclerosis 1 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:603278 |
C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Hematuria, Abnormal renal physiology, Chronic kidney disease |
OMIM:123550 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Difficulty walking, Depression, Anxiety |
OMIM:619191 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Proteinuria, Nephrotic syndrome |
ORPHA:839 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria |
OMIM:261100 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Hematuria, Recurrent urinary tract infections |
ORPHA:284400 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Nephronophthisis 13 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp... |
OMIM:614377 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:203780 |
Lesch-Nyhan Syndrome |
|
Renal insufficiency, Hematuria |
ORPHA:510 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:220 |
Frasier Syndrome |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:136680 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Nephropathy, Hematuria, Nephrolithiasis |
ORPHA:2196 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria |
OMIM:120433 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Microscopic hematuria |
ORPHA:79087 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Renal insufficiency, Myoglobinuria |
OMIM:255110 |
Cystinuria |
|
Renal insufficiency, Hematuria, Nephrolithiasis |
ORPHA:214 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection |
OMIM:613780 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... |
OMIM:615244 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... |
OMIM:612925 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:104200 |
Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria |
OMIM:160010 |
Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:54057 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... |
OMIM:615436 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:614455 |
Hereditary Xanthinuria |
|
Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,... |
ORPHA:3467 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria |
OMIM:612924 |
Anti-Glomerular Basement Membrane Disease |
|
Renal insufficiency, Glomerulopathy, Proteinuria, Hematuria |
ORPHA:375 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Proteinuria |
OMIM:612926 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Progressive hearing impairment, Short stature, Hypogonadism, Postnatal gr... |
OMIM:616113 |
Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria |
OMIM:610205 |
Congenital Heart Defects, Multiple Types, 7 |
|
Double aortic arch, Tetralogy of Fallot, Depression, Anxiety, Pulmonary artery atresia, Right aor... |
OMIM:618780 |
Dent Disease 2 |
|
Aminoaciduria, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis, Hypercal... |
OMIM:300555 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Impulsivity, A... |
ORPHA:66624 |
Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... |
ORPHA:1652 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... |
ORPHA:656 |
Galloway-Mowat Syndrome 5 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:617731 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal cyst, Renal insufficiency, Hematuria |
OMIM:611773 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Uric acid nephrolithiasis, Acute kidney injury, Dysuria, Nephropathy, Macroscopic hematuria, Rena... |
ORPHA:79233 |
Glycogen Storage Disease X |
|
Renal insufficiency, Myoglobinuria |
OMIM:261670 |
Dent Disease 1 |
|
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly... |
OMIM:300009 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... |
OMIM:611788 |
Hypomagnesemia 3, Renal |
|
Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiuria, Hematuria,... |
OMIM:248250 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2668 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Hematuria, Abnormal ren... |
OMIM:308940 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:301006 |
Alport Syndrome |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... |
ORPHA:63 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ... |
OMIM:146255 |
Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Hematuria, Proteinuria |
ORPHA:1765 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection |
OMIM:617349 |
Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Generalized aminoaciduria, Decreased g... |
OMIM:613388 |
Primary Hyperoxaluria Type 1 |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, He... |
ORPHA:93598 |
Glycogen Storage Disease Xi |
|
Renal insufficiency, Myoglobinuria |
OMIM:612933 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal amyloidosis, Renal insufficiency, Proteinuria |
OMIM:134610 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Minimal change glomer... |
ORPHA:567548 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Aggressive behavior, Abnormal fear/anxiety-related behavior, Shuffling gait, Abnor... |
ORPHA:3077 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria |
ORPHA:1473 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Renal cyst, D... |
ORPHA:97362 |
Fanconi Renotubular Syndrome 3 |
|
Glycosuria, Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria |
OMIM:615605 |
Galloway-Mowat Syndrome 10 |
|
Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial sclerosis, Pr... |
OMIM:619609 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaciduria, Low-mole... |
OMIM:134600 |
Lcat Deficiency |
|
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... |
ORPHA:650 |
Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Galloway-Mowat Syndrome 4 |
|
Congenital nephrotic syndrome, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesang... |
OMIM:617730 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:225 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Diffuse mesangial scl... |
OMIM:256300 |
Frasier Syndrome |
|
Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segme... |
ORPHA:347 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Sensorineural hearing impairment, Increased bone mineral density, Rickets, Hypophosphatemic ricke... |
OMIM:241520 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, ... |
ORPHA:228302 |
Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Nep... |
OMIM:301050 |
Familial Aortic Dissection |
|
Patent ductus arteriosus, Aortic root aneurysm, Coronary artery atherosclerosis, Descending aorti... |
ORPHA:229 |
Preeclampsia |
|
Acute kidney injury, Abnormality of the kidney, Proteinuria, Chronic kidney disease |
ORPHA:275555 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Cednik Syndrome |
|
Proteinuria, Nephrotic syndrome |
ORPHA:66631 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Agitation |
OMIM:619970 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Renal insufficiency, Myoglobinuria |
ORPHA:2364 |
Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... |
OMIM:120330 |
Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine |
OMIM:232600 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Non-Functioning Paraganglioma |
|
Elevated urinary norepinephrine, Hematuria, Elevated urinary epinephrine, Elevated urinary dopamine |
ORPHA:94080 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Mucopolysacchariduria, Nephrotic syndrome |
OMIM:215250 |
Nephroblastoma |
|
Nephroblastoma, Hematuria |
ORPHA:654 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Tubulointerstitial nephritis, Proteinuria, Hematuria |
OMIM:616901 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hematuria, Nephrolithiasis |
ORPHA:35710 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Acute kidney injury, Glomerular sclero... |
ORPHA:93126 |
Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mes... |
OMIM:617575 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria |
OMIM:268200 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:1192 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Agitation |
OMIM:309548 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Hematuria, Nephritis |
OMIM:614034 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:618347 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Rhabdoid Tumor |
|
Renal neoplasm, Hematuria |
ORPHA:69077 |
Early-Onset Schizophrenia |
|
Diminished motivation, Abnormal emotion/affect behavior, Suicidal ideation, Unhappy demeanor, Emo... |
ORPHA:96369 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Stage 5 chronic kidney disease, Renal insufficiency, Bilateral renal atrophy, Proteinuria |
OMIM:166300 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopamine, Elevate... |
ORPHA:276621 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:91138 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Renal artery stenosis, Proteinuria |
OMIM:209010 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary artery morphology, Aorto-vent... |
ORPHA:3400 |
Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Nephritis, Proteinuria |
ORPHA:182050 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc... |
ORPHA:567546 |
Hereditary Mucoepithelial Dysplasia |
|
Hematuria, Abnormality of the bladder |
ORPHA:1839 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test, Short stature, Post... |
OMIM:615925 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:618348 |
Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Restlessness |
OMIM:605899 |
Autoinflammatory-Pancytopenia Syndrome |
|
Proteinuria, Membranoproliferative glomerulonephritis |
OMIM:619858 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia, Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse... |
OMIM:600785 |
Distal 16P11.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Renal agenesis, Proteinuria, Chronic kidney dis... |
ORPHA:261222 |
Hypophosphatemic Bone Disease |
|
Rickets, Short stature, Osteomalacia |
OMIM:146350 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Glycosuria, Nephropathy, Nephrocalcinosis, Proteinuria |
OMIM:613404 |
Orotic Aciduria |
|
Oroticaciduria, Orotic acid crystalluria, Hematuria |
OMIM:258900 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria |
OMIM:616026 |
Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Rickets, Hypophosphatemic rickets, Short stature, Osteomalacia |
OMIM:193100 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Stage 5 chronic kidney disease, Proteinuria |
OMIM:219900 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Osteopenia, Cryptorchidism, Low-set ears, ... |
OMIM:614732 |
Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... |
ORPHA:411634 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Proteinuria, Abnormal renal physiology, Microscopic hematuria |
OMIM:274150 |
Glanzmann Thrombasthenia |
|
Macroscopic hematuria |
ORPHA:849 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Renal cell carcinoma, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis, Elevated uri... |
ORPHA:29072 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Proteinuria |
OMIM:619428 |
Pediatric Systemic Lupus Erythematosus |
|
Nephrotic syndrome, Hematuria, Nephritis, Proteinuria, Abnormality of the urinary system, Renal i... |
ORPHA:93552 |
Primary Hyperoxaluria |
|
Elevated urine glycolate, Calcium oxalate nephrolithiasis, Stage 5 chronic kidney disease, Hematu... |
ORPHA:416 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hemolytic-uremic syndrome, Methylmalonic aciduria, Cystathioninuria, Hematuria, Nephropathy, Prot... |
OMIM:277400 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Renal duplication, Renal dysplasia, Urethral stricture, Hematuria, Urinary bladder inflammation, ... |
ORPHA:79403 |
Renal Nutcracker Syndrome |
|
Proteinuria, Hematuria, Renal artery stenosis, Microscopic hematuria |
ORPHA:71273 |
Hemophilia B |
|
Hematuria |
ORPHA:98879 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:36412 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Renal h... |
OMIM:614376 |
Galactosemia I |
|
Aminoaciduria, Increased level of galactitol in urine, Galactosuria, Albuminuria |
OMIM:230400 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Recurrent fractures, Short stature, Osteomalacia, Coarse metaphyseal trabecularization,... |
ORPHA:93160 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abnormality of the kidney, Proteinuria |
ORPHA:369 |
Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria |
ORPHA:100024 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Hematuria |
ORPHA:90060 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Hematuria |
ORPHA:79 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurrent myoglobinuria, Chronic... |
ORPHA:368 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria |
ORPHA:251004 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Hematuria |
OMIM:192315 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis... |
OMIM:300554 |
Renal Agenesis |
|
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena... |
ORPHA:411709 |
Igg4-Related Retroperitoneal Fibrosis |
|
Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Membranous n... |
ORPHA:49041 |
Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria |
ORPHA:98895 |
Drug-Induced Lupus Erythematosus |
|
Hematuria |
ORPHA:231111 |
Relapsing Fever |
|
Abnormality of the urinary system, Hematuria, Acute kidney injury |
ORPHA:91547 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria |
ORPHA:86818 |
Free Sialic Acid Storage Disease |
|
Proteinuria, Nephrotic syndrome |
ORPHA:834 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Heavy prote... |
ORPHA:255249 |
Hypophosphatasia, Adult |
|
Increased susceptibility to fractures, Recurrent fractures, Osteomalacia, Rickets, Pathologic fra... |
OMIM:146300 |
Ruvalcaba Syndrome |
|
Hematuria, Abnormal localization of kidney |
ORPHA:3121 |
Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Short stature, Osteopenia, Elevated circulating growth hormone ... |
OMIM:608747 |
Urachal Cyst |
|
Dysuria, Pyuria, Hematuria, Urachus fistula |
ORPHA:488 |
Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, N... |
ORPHA:1830 |
Malakoplakia |
|
Dysuria, Urinary urgency, Hematuria, Urinary bladder inflammation, Proteinuria, Urinary hesitancy |
ORPHA:556 |
Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Prote... |
OMIM:256550 |
Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Abnormal urinary color |
ORPHA:90035 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Focal segmental glomerulosclerosis, Recurr... |
OMIM:607426 |
Klippel-Trénaunay Syndrome |
|
Hematuria |
ORPHA:90308 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
Legionnaires Disease |
|
Renal insufficiency, Hematuria, Proteinuria |
ORPHA:549 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency, Focal segmenta... |
OMIM:254900 |
Cystinosis |
|
Aminoaciduria, Nephropathy, Proteinuria, Renal insufficiency, Renal tubular dysfunction |
ORPHA:213 |
Simple Cryoglobulinemia |
|
Nephrotic syndrome, Abnormality of the kidney, Membranoproliferative glomerulonephritis, Nephriti... |
ORPHA:91139 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G... |
ORPHA:3337 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Renal salt wasting, Polyuria, Proteinuria, Hyperechogenic kidneys, Chronic kidney disease |
OMIM:613845 |
Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Bilateral renal agenesis, Renal dysplasia |
OMIM:191830 |
Nail-Patella Syndrome |
|
Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency |
OMIM:161200 |
Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced myoglobinuria, Renal insufficiency |
OMIM:300653 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Ren... |
ORPHA:85450 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Elevated urinary norepinephrine, Proteinuria |
OMIM:171420 |
Wild Type Attr Amyloidosis |
|
Nephropathy, Renal insufficiency, Proteinuria, Nephrotic syndrome |
ORPHA:330001 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Pro... |
ORPHA:439232 |
Arima Syndrome |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy... |
OMIM:243910 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Hematuria |
ORPHA:853 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Tubulointerstitial nephritis, Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:183 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Stage 5 chronic kidney disease, Glycosuria, Hyperphosphaturia, Hematuria, Medullar... |
OMIM:219800 |
Mccune-Albright Syndrome |
|
Decreased fertility, Macroorchidism, Increased circulating prolactin concentration, Irregular men... |
ORPHA:562 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ... |
ORPHA:436271 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Increased susceptibility to fractures, Short stature, Osteomalacia, Sparse bone... |
ORPHA:289157 |
Hyperoxaluria, Primary, Type I |
|
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria |
OMIM:259900 |
Majeed Syndrome |
|
Glomerulopathy, Proteinuria, Microscopic hematuria |
ORPHA:77297 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Short stature, Parathyroid hyperplasia, Rickets, Hyperparathyroidism, Hypophosphatemic rickets |
OMIM:612089 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Growth delay, Bilateral sensorineural hearing impairment |
OMIM:602722 |
Glycogen Storage Disease Ic |
|
Hematuria, Decreased glomerular filtration rate, Proteinuria, Renal insufficiency, Focal segmenta... |
OMIM:232240 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Recurrent fractures, Alopecia universalis, Sparse bone trabeculae, Secondary hy... |
OMIM:277440 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Stage 5 chronic kidney disease, Hematuria, Nephropathy, Proteinuria, Chronic kidney disease |
ORPHA:1018 |
Congenital Factor V Deficiency |
|
Hematuria |
ORPHA:326 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Proteinuria |
ORPHA:69126 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Exercise-induced myoglobinuria |
ORPHA:352479 |
Microscopic Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Oliguria |
ORPHA:727 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria |
ORPHA:35909 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria |
ORPHA:119 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
Lymphatic Filariasis |
|
Nephrotic syndrome, Abnormality of the kidney, Hematuria, Glomerulonephritis, Proteinuria, Urethr... |
ORPHA:2035 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ... |
OMIM:220110 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Abnormal ureter morpho... |
ORPHA:449395 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Short stature, Osteomalacia, Hypophosphatemic rickets, Growth delay, Pathologic fracture, Reduced... |
ORPHA:157215 |
Nail-Patella Syndrome |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Abnormality of the kidney, Hematuria, Nephrit... |
ORPHA:2614 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Renal insufficiency, Proteinuria |
ORPHA:1307 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Myoglobinuria |
ORPHA:713 |
Congenital Factor Ii Deficiency |
|
Microscopic hematuria |
ORPHA:325 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria |
OMIM:145600 |
Renal Cysts And Diabetes Syndrome |
|
Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Unilateral renal agenesis,... |
OMIM:137920 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Rickets, Osteopenia, Cholelithiasis, Short stature |
OMIM:211600 |
Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Fabry Disease |
|
Renal insufficiency, Lipiduria, Urinary mulberry cells, Proteinuria |
OMIM:301500 |
Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Exercise-induced myoglobinuria, Oliguria, Renal insufficiency, Dark urine, R... |
ORPHA:99845 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Renal c... |
ORPHA:18 |
Gaucher Disease Type 1 |
|
Proteinuria, Hematuria |
ORPHA:77259 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Anuria, Acute tubulointerstitial nephritis, Acute kidney injury, De... |
ORPHA:340 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Hyperthyroidism, Increased circulating cortisol level, Osteomalacia, Hyperpitui... |
ORPHA:249 |
Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria |
OMIM:300559 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria |
ORPHA:57 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Secondary hyperparathyroidism, Ric... |
OMIM:264700 |
Stormorken Syndrome |
|
Hematuria |
OMIM:185070 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinur... |
ORPHA:488627 |
Spondyloenchondrodysplasia |
|
Proteinuria, Hematuria, Chronic kidney disease |
ORPHA:1855 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria |
OMIM:618886 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Growth delay, Delayed epi... |
OMIM:600081 |
Ethylene Glycol Poisoning |
|
Decreased urine output, Renal tubular epithelial necrosis, Hematuria, Renal insufficiency, Renal ... |
ORPHA:31826 |
Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Increased susceptibility to fractures, Recurrent fractures, Osteomalacia... |
ORPHA:2176 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Chronic kidney disease |
ORPHA:284426 |
Sickle Cell Disease |
|
Renal insufficiency, Hematuria |
OMIM:603903 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
Amme Complex |
|
Hematuria |
OMIM:300194 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Hypophosphatemic rickets,... |
OMIM:241530 |
Chronic Mucocutaneous Candidiasis |
|
Hematuria, Recurrent urinary tract infections |
ORPHA:1334 |
Glycogen Storage Disease Vii |
|
Exercise-induced myoglobinuria |
OMIM:232800 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Sensorineural hearing impairment, Recurrent fractures, Short stature, Rickets, Bilateral sensorin... |
OMIM:268315 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Proteinuria, Renal Fanconi syndrome |
ORPHA:263455 |
Moderate Hemophilia A |
|
Hematuria |
ORPHA:169805 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Growth delay, Osteomalacia |
ORPHA:89937 |
Castleman Disease |
|
Ureteral obstruction, Hematuria, Renal insufficiency |
ORPHA:160 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Short stature, Infertility, Thyroiditis, Rickets, Delayed puberty, Osteoporosis, Postna... |
OMIM:212750 |
Immunoglobulin A Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:761 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Hypoplastic pulmonary veins, Coarctation of aorta, Total anomalous... |
OMIM:613854 |
Glycogen Storage Disease Ia |
|
Enlarged kidney, Decreased glomerular filtration rate, Proteinuria, Focal segmental glomeruloscle... |
OMIM:232200 |
Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Recurrent urinary tract infectio... |
ORPHA:33001 |
Pheochromocytoma |
|
Elevated urinary norepinephrine, Proteinuria, Renal artery stenosis |
OMIM:171300 |
Schimke Immunoosseous Dysplasia |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Renal insufficiency, Focal segme... |
OMIM:242900 |
Acute Promyelocytic Leukemia |
|
Hematuria |
ORPHA:520 |
Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Glomerular sclerosis, Thicken... |
OMIM:619487 |
Galloway-Mowat Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:2065 |
Giant Cell Arteritis |
|
Renal insufficiency, Hematuria |
ORPHA:397 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Nephritis, Proteinuria, Focal segment... |
OMIM:617303 |
Bernard-Soulier Syndrome |
|
Macroscopic hematuria, Partially duplicated kidney |
ORPHA:274 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Cystic... |
ORPHA:157 |
Neu-Laxova Syndrome |
|
Flexion contracture, Macrotia, Hypogonadism, Osteomalacia, Rickets, Osteoporosis, Abnormal eyelas... |
ORPHA:2671 |
Disorder Of Bile Acid Synthesis |
|
Rickets |
ORPHA:79168 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria |
OMIM:620138 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteomalacia, Rickets, Severe short stature, Joint hyperflexibility, Osteopenia, Joint stiffness,... |
ORPHA:1901 |
Cocaine Intoxication |
|
Tubulointerstitial nephritis, Acute kidney injury, Hematuria, Glomerulonephritis, Proteinuria |
ORPHA:90068 |
Severe Hemophilia A |
|
Macroscopic hematuria |
ORPHA:169802 |
Galloway-Mowat Syndrome 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Glomerular sclerosis, Diffuse mesangial scler... |
OMIM:617729 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Short stature, Osteomalacia, Rickets, Hypophosphatemic rickets, Osteoarthritis |
OMIM:307800 |
Aortic Valve Disease 2 |
|
Aortic tortuosity, Calcification of the aorta, Aortic aneurysm, Ascending aortic dissection, Coar... |
OMIM:614823 |
Acquired Von Willebrand Syndrome |
|
Hematuria |
ORPHA:99147 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets, Short stature |
OMIM:611590 |
Glycogen Storage Disease Ib |
|
Enlarged kidney, Decreased glomerular filtration rate, Proteinuria, Focal segmental glomeruloscle... |
OMIM:232220 |
Congenital Factor X Deficiency |
|
Hematuria |
ORPHA:328 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Abnormal tubulointerstitial morphology, Low-molecul... |
ORPHA:411629 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Rickets, Hearing impairment, Osteoporosis |
OMIM:560000 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... |
ORPHA:228308 |
Fabry Disease |
|
Glomerulopathy, Nephrotic syndrome, Abnormal renal tubule morphology, Hematuria, Nephropathy, Pro... |
ORPHA:324 |
Al Amyloidosis |
|
Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, Albuminuria, ... |
ORPHA:85443 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Red-brown urine |
ORPHA:228305 |
Lymphangioleiomyomatosis |
|
Renal angiomyolipoma, Hematuria, Renal neoplasm, Abnormal urinary color, Multiple renal cysts |
ORPHA:538 |
Mucoepithelial Dysplasia, Hereditary |
|
Hematuria |
OMIM:158310 |
Goodpasture Syndrome |
|
Glomerular crescent formation, Cylindruria, Glomerulonephritis, Erythrocyte cylindruria, Macrosco... |
OMIM:233450 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nephropathy, Proteinuria, Glomerular sclerosis |
ORPHA:247691 |
Autoerythrocyte Sensitization Syndrome |
|
Hematuria |
ORPHA:324636 |
Hereditary Hemorrhagic Telangiectasia |
|
Hematuria, Nephrolithiasis |
ORPHA:774 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Tubulointerstitial nephritis, Aminoaciduria, Renal Fanconi syndrome, Beta 2-microglobulinuria, Re... |
ORPHA:91500 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Sensorineural hearing impairment, Short stature, Osteomalacia, Abnormal trabecular bone morpholog... |
ORPHA:289176 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria |
OMIM:251900 |
Gaucher Disease Type 3 |
|
Proteinuria, Hematuria |
ORPHA:77261 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Mild proteinuria, Hypospadias |
OMIM:619147 |
Hypophosphatemic Rickets |
|
Hyperthyroidism, Osteomalacia, Enthesitis, Parathyroid hyperplasia, Rickets, Disproportionate sho... |
ORPHA:437 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Aminoaciduria, Abnormal renal tubule morphology, Hematuria, Proximal renal tubula... |
ORPHA:534 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Hematuria, Ureteral stenosis, Proteinuria, Renal insufficiency, Hydronephrosis |
ORPHA:900 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Mild proteinuria |
OMIM:619685 |
Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:728 |
Systemic Sclerosis |
|
Acute kidney injury, Abnormality of the kidney, Glomerulonephritis, Albuminuria, Proteinuria, Ren... |
ORPHA:90291 |
Martin-Probst Syndrome |
|
Renal insufficiency, Micropenis, Proteinuria, Chordee |
OMIM:300519 |
Lujo Hemorrhagic Fever |
|
Renal insufficiency, Oliguria, Microscopic hematuria |
ORPHA:319213 |
Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria |
OMIM:222448 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Rickets, Growth delay, Exocrine pancreatic insufficiency, Osteoporosis |
ORPHA:309031 |
Postinfectious Vasculitis |
|
Glomerulonephritis, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis |
ORPHA:48435 |
Galloway-Mowat Syndrome 1 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Renal insufficiency, Focal segmenta... |
OMIM:251300 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced myoglobinuria, Dicarboxylic aciduria |
OMIM:201475 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Chronic kidney disease |
OMIM:208500 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets, Postnatal growth retardation |
ORPHA:79303 |
Wagro Syndrome |
|
Nephroblastoma, Proteinuria |
OMIM:612469 |
X-Linked Hypophosphatemia |
|
Sensorineural hearing impairment, Vertebral hyperostosis, Enthesitis, Arthritis, Limitation of jo... |
ORPHA:89936 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Nephrotic syndrome, Enlarged kidney, Proteinuria, Urinary glycosaminoglycan excretion, Heavy prot... |
ORPHA:505248 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Renal cyst, Proximal tubulopathy, Proteinuria, Nephrotic syndrome |
OMIM:212065 |
Wilson Disease |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Increased urinary copper... |
OMIM:277900 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Exercise-induced myoglobinuria |
OMIM:607155 |
Rift Valley Fever |
|
Hematuria |
ORPHA:319251 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... |
OMIM:610338 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux |
OMIM:619377 |
Q Fever |
|
Hematuria |
ORPHA:781 |
Hellp Syndrome |
|
Acute kidney injury, Hemoglobinuria, Proteinuria |
ORPHA:244242 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria |
OMIM:194380 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinuria, Ren... |
OMIM:614748 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria |
OMIM:610965 |
Pure Mitochondrial Myopathy |
|
Recurrent myoglobinuria |
ORPHA:254854 |
Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria |
OMIM:255125 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Hyperlysinuria, Abnormal renal tubule morphology, Ornithinuria, Oro... |
ORPHA:470 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myoglobinuria |
OMIM:609015 |
Agel Amyloidosis |
|
Stage 5 chronic kidney disease, Proteinuria |
ORPHA:85448 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria |
OMIM:300908 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Acute kidney injury, Hemoglobinuria, Glycosuria, Proteinuria, Hemosiderinuria, Renal insufficienc... |
ORPHA:447 |
Imerslund-Gräsbeck Syndrome |
|
Proteinuria |
ORPHA:35858 |
Melas |
|
Proximal tubulopathy, Proteinuria, Nephropathy, Focal segmental glomerulosclerosis |
ORPHA:550 |
Pierson Syndrome |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Hyp... |
OMIM:609049 |
Pulmonary Alveolar Microlithiasis |
|
Hematuria, Calcium nephrolithiasis |
ORPHA:60025 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria |
ORPHA:206549 |
Fanconi-Bickel Syndrome |
|
Rickets, Osteopenia, Growth delay |
ORPHA:2088 |
Cornelia De Lange Syndrome 1 |
|
Vesicoureteral reflux, Renal cyst, Reduced renal corticomedullary differentiation, Hypospadias, E... |
OMIM:122470 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Pancreatitis, Osteomalacia |
OMIM:600740 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
ORPHA:71212 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Hypospadias, Albuminuria, Renal cortical microcysts, Hydronephrosis |
OMIM:214100 |
Gitelman Syndrome |
|
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Nocturia, Focal segme... |
ORPHA:358 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Osteomalacia, Abnormal tragus morphology, Thin eyebrow, Intrauterine growth retardation... |
ORPHA:2636 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria |
ORPHA:90321 |
Familial Mediterranean Fever |
|
Nephrocalcinosis, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:342 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Micropenis |
OMIM:619471 |
Acquired Generalized Lipodystrophy |
|
Proteinuria |
ORPHA:79086 |
Angioosteohypertrophic Syndrome |
|
Hematuria |
ORPHA:2346 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Myoglobinuria, Ketonuria |
OMIM:616878 |
Gaucher Disease |
|
Proteinuria, Hematuria |
ORPHA:355 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Myoglobinuria, Renal tubular acidosis |
ORPHA:79240 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Moderate albuminuria, Hematuria,... |
ORPHA:95455 |
Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Urinary incontinence, Proteinuria, Myoglobinuria |
ORPHA:94093 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Myoglobinuria, Renal tubular acidosis |
ORPHA:370 |
Malignant Hyperthermia Of Anesthesia |
|
Acute kidney injury, Myoglobinuria |
ORPHA:423 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hypospadias, Hematuria, Micropenis |
OMIM:619475 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Glycosuria, Moderate albuminuria, Abnormality of the upper urinary tract, Renal tubula... |
ORPHA:99885 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscopic hematuria |
OMIM:619525 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Myoglobinuria, Renal tubular acidosis |
ORPHA:264580 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Stage 5 chronic kidney disease, Enlarged kidney, Proteinuria, Nephrocalcinosis, Tubulointerstitia... |
ORPHA:79259 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets |
OMIM:607765 |
Insulin-Resistance Syndrome Type B |
|
Glycosuria, Proteinuria, Nephritis |
ORPHA:2298 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Thin bony cortex, Short stature, Joint laxity, Rickets, Bile duct proliferation, Osteopenia, Grow... |
OMIM:613658 |
Crimean-Congo Hemorrhagic Fever |
|
Proteinuria, Hematuria |
ORPHA:99827 |
Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Stage 5 chronic kidney disease, Hyperphosphaturia, Proximal renal tubular acidosis... |
OMIM:309000 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis |
ORPHA:2750 |
Pearson Syndrome |
|
Glycosuria, Lacticaciduria, Renal cyst, Proteinuria, Renal insufficiency |
ORPHA:699 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hemoglobinuria, Anuria |
ORPHA:90038 |
Occipital Horn Syndrome |
|
Osteomalacia, Synostosis of joints, Rickets, Osteolysis, Osteopenia, Joint hyperflexibility, Coar... |
ORPHA:198 |
Holoprosencephaly |
|
Abnormality of the urinary system, Proteinuria, Hypoplasia of penis |
ORPHA:2162 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
Cockayne Syndrome |
|
Urinary incontinence, Nephrotic syndrome, Neurogenic bladder, Unilateral renal agenesis, Abnormal... |
ORPHA:191 |
Glycogen Storage Disease Xii |
|
Hemoglobinuria |
OMIM:611881 |
Fanconi-Bickel Syndrome |
|
Osteomalacia |
OMIM:227810 |
Orofaciodigital Syndrome I |
|
Polycystic kidney dysplasia, Proteinuria |
OMIM:311200 |
Aymé-Gripp Syndrome |
|
Proteinuria |
ORPHA:1272 |
Chronic Graft Versus Host Disease |
|
Phimosis, Urinary bladder inflammation, Hematuria |
ORPHA:99921 |
Kawasaki Disease |
|
Sterile pyuria, Proteinuria |
ORPHA:2331 |
Infection-Related Hemolytic Uremic Syndrome |
|
Nephrotic range proteinuria, Anuria, Acute kidney injury, Decreased urine output, Oliguria |
ORPHA:544482 |
Cockayne Syndrome B |
|
Renal insufficiency, Micropenis, Proteinuria |
OMIM:133540 |
Cockayne Syndrome A |
|
Renal insufficiency, Micropenis, Proteinuria |
OMIM:216400 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Proteinuria, Focal segmental glomerulosclerosis |
OMIM:619127 |
Williams Syndrome |
|
Vesicoureteral reflux, Renal duplication, Recurrent urinary tract infections, Hypoplasia of penis... |
ORPHA:904 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria |
OMIM:616682 |
Familial Hypocalciuric Hypercalcemia |
|
Pancreatitis, Osteomalacia |
ORPHA:405 |
Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Pancreatic calcification, Conductive hearing impairment, Sensorineural hearing ... |
ORPHA:51608 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria |
OMIM:614231 |
Immunodeficiency 82 With Systemic Inflammation |
|
Arthritis, Osteomyelitis, Cholesteatoma, Osteomalacia |
OMIM:619381 |
Pmm2-Cdg |
|
Abnormal renal tubule morphology, Proteinuria, Multiple renal cysts, Nephrotic syndrome |
ORPHA:79318 |