| Nephrotic Syndrome, Type 21 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Podocyte foot process effac... |
OMIM:618594 |
| Nephrotic Syndrome, Type 4 |
|
Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme... |
OMIM:256370 |
| Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
| Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Steroid-resistant... |
OMIM:617609 |
| Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:614131 |
| Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... |
OMIM:616892 |
| Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental ... |
OMIM:600995 |
| Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... |
ORPHA:54370 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Elevated circulating creatinine c... |
OMIM:161900 |
| Nephrotic Syndrome, Type 17 |
|
Short stature, Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome,... |
OMIM:618176 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... |
OMIM:614650 |
| Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
| Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... |
OMIM:610725 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
| Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome |
OMIM:249660 |
| Focal Segmental Glomerulosclerosis 1 |
|
Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
| 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 |
| Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
| Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
| Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
| Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... |
ORPHA:84090 |
| Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... |
OMIM:603965 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Short stature, Beta 2-... |
OMIM:308990 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca... |
OMIM:613092 |
| Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... |
OMIM:619263 |
| Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Hyperprolinemia, Proteinuria |
ORPHA:419 |
| Nephrotic Syndrome, Type 26 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:620049 |
| Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... |
OMIM:619155 |
| 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 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Skin rash, Arthritis, Synovitis, Serositis, Glomerulonep... |
ORPHA:567544 |
| Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:618349 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... |
OMIM:601894 |
| Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
| Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:613944 |
| Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
| Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... |
OMIM:615244 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... |
OMIM:137950 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Hyperuricemia, Short stature, Renal cyst, Gout, Nephropathy, Elevated circulating creatinine conc... |
OMIM:617056 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn... |
ORPHA:567548 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Hypoalbuminemia, Nephrotic syndrome |
OMIM:614652 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Microscopic hematuria |
ORPHA:2613 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Peritonitis, Minimal change glomerulonephritis, Foamy urine, Diff... |
ORPHA:656 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... |
ORPHA:2843 |
| Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Hypoproteinemia, Diff... |
OMIM:256300 |
| Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Nephropathy, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis |
OMIM:182690 |
| Focal Segmental Glomerulosclerosis 9 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis |
OMIM:616220 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Elevated circula... |
OMIM:614455 |
| C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... |
OMIM:615008 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome |
OMIM:614199 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:612551 |
| Nephronophthisis 13 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp... |
OMIM:614377 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Hyperuricemia, Nephritis, Gout, Nephropathy, Decreased glomerular filtrati... |
OMIM:162000 |
| Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts |
OMIM:609886 |
| Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
| Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... |
OMIM:616818 |
| Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:161950 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... |
OMIM:612925 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate,... |
OMIM:242530 |
| Nephrotic Syndrome, Type 10 |
|
Steroid-resistant nephrotic syndrome, Minimal change glomerulonephritis, Podocyte foot process ef... |
OMIM:615861 |
| Tubulointerstitial Nephritis With Uveitis |
|
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Reversible renal failure, Elevat... |
OMIM:607665 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
| 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 |
| Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... |
OMIM:620056 |
| Nephronophthisis-Like Nephropathy 2 |
|
Bronchiectasis, Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated ci... |
OMIM:619468 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612924 |
| C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic kidney diseas... |
OMIM:174000 |
| Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
| Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
| Xanthinuria, Type Ii |
|
Hyperxanthinemia, Increased urinary hypoxanthine, Hypouricemia, Xanthinuria, Renal insufficiency,... |
OMIM:603592 |
| Galloway-Mowat Syndrome 6 |
|
Short stature, Nephrotic syndrome, Growth delay, Proteinuria, Focal segmental glomerulosclerosis,... |
OMIM:618347 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati... |
OMIM:614723 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Severe short stature, Nephropathy, Proteinuria |
ORPHA:2820 |
| Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... |
OMIM:220100 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrot... |
ORPHA:839 |
| Oculorenocerebellar Syndrome |
|
Nephropathy, Glomerular sclerosis |
OMIM:257970 |
| Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process e... |
OMIM:617575 |
| Cryoglobulinemia, Familial Mixed |
|
Hematuria, Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria,... |
OMIM:123550 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephri... |
OMIM:301006 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Growth delay, Low-molecular-weight p... |
OMIM:615605 |
| Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:160010 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Short stature, Jaundice, Acholic stools, Portal fibrosis, Increased se... |
OMIM:619868 |
| Nephrosialidosis |
|
Nephrotic syndrome, Pericardial effusion, Nephropathy, Bone-marrow foam cells, Ascites, Renal ins... |
OMIM:256150 |
| Galloway-Mowat Syndrome 4 |
|
Congenital nephrotic syndrome, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesang... |
OMIM:617730 |
| Galloway-Mowat Syndrome 10 |
|
Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process effacement, Diffuse mesangial ... |
OMIM:619609 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulonephritis, Colitis,... |
OMIM:617006 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease |
OMIM:602114 |
| Preeclampsia |
|
Acute kidney injury, Abnormality of the kidney, Elevated circulating creatinine concentration, Pr... |
ORPHA:275555 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
| Glycogen Storage Disease X |
|
Renal insufficiency, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:261670 |
| Galactosemia I |
|
Aminoaciduria, Increased level of galactonate in red blood cells, Hypergalactosemia, Increased le... |
OMIM:230400 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Nephrotic syndrome, Hematuria, Membranoproliferative gl... |
OMIM:608709 |
| Glycogen Storage Disease Xi |
|
Renal insufficiency, Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinas... |
OMIM:612933 |
| Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Growth delay, Hepatomegaly, Dysgammaglobulinemia, Ascites, Hypocalcemia,... |
ORPHA:100025 |
| Dent Disease 2 |
|
Aminoaciduria, Proximal tubulopathy, Short stature, Hypophosphatemia, Elevated circulating creati... |
OMIM:300555 |
| Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo... |
OMIM:104200 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Short stature, Hyperbilirubinemia, Jaundice, Increased serum bile acid concentration, Hepatomegal... |
OMIM:620010 |
| Frasier Syndrome |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:136680 |
| Galloway-Mowat Syndrome 5 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:617731 |
| 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 |
| Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
| Complement Factor H Deficiency |
|
Glomerular subendothelial electron-dense deposits, Hematuria, Thickened glomerular basement membr... |
OMIM:609814 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Gout, Nephropathy, Macros... |
ORPHA:79233 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Ascites, Polycystic liver disease, Increased total bilirubin |
OMIM:174050 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc... |
ORPHA:567546 |
| Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Short stature, Nephrotic syndrome, Stage... |
OMIM:618348 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria |
OMIM:245900 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Ascites, Splen... |
OMIM:271500 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Jaundice, Hepatomegaly, Ascites, Renal insufficiency |
ORPHA:890 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Intrauterin... |
ORPHA:255249 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria, Intrauterine growth retardation |
OMIM:189800 |
| Bardet-Biedl Syndrome 18 |
|
Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:615995 |
| Neuraminidase Deficiency |
|
Hydrops fetalis, Short stature, Ascites, Urinary excretion of sialylated oligosaccharides, Increa... |
OMIM:256550 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Uric acid nephrolithiasis, Crystalluria, Hyperuricemia, Stage 4 chronic kidney disease, Acute kid... |
ORPHA:411536 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Polyhydramnios, Anemia, Renal hypoplasia/aplasia, Hypoplasia of penis, Oligohydramnios, Hypospadi... |
ORPHA:1046 |
| Lesch-Nyhan Syndrome |
|
Gout, Renal insufficiency, Hyperuricemia, Hematuria |
ORPHA:510 |
| Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
| Diffuse Neonatal Hemangiomatosis |
|
Polyhydramnios, Anemia, Hydrops fetalis, Renal hypoplasia/aplasia, Thrombocytopenia, Hypercalcemi... |
ORPHA:2123 |
| Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Scleritis, Acute kidney injury, Arteri... |
ORPHA:93126 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613913 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Fulminan... |
OMIM:308240 |
| Infantile Sialic Acid Storage Disease |
|
Hydrops fetalis, Nephrotic syndrome, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes,... |
OMIM:269920 |
| Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Stage 5 chronic k... |
ORPHA:228302 |
| Lcat Deficiency |
|
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... |
ORPHA:650 |
| Xanthinuria, Type I |
|
Hyperxanthinemia, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria, Hydronephrosis |
OMIM:278300 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Renal insufficiency, Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinas... |
ORPHA:2364 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia |
ORPHA:2668 |
| Bardet-Biedl Syndrome 14 |
|
Renal insufficiency |
OMIM:615991 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syn... |
OMIM:613779 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyperuricemia, Renal salt wasting, Increased blood urea nitrogen, Polyuria, Hyponatremia, Protein... |
OMIM:613845 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Left ventricular hypertrophy, Oligohydramnios, Intrauterine growth retardation, ... |
OMIM:616733 |
| Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Proteinuria, Hematuria |
ORPHA:2134 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Chronic decreased circulating total IgG, Decreased specific pneumoco... |
OMIM:613496 |
| Fetal Parvovirus Syndrome |
|
Anemia, Hydrops fetalis, Hypertrophic cardiomyopathy, Ascites, Thrombocytopenia, Increased nuchal... |
ORPHA:295 |
| Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Pleural effusion, Decreased circulating IgG level, Decreased circulating to... |
ORPHA:90362 |
| Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... |
ORPHA:1652 |
| Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232600 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinuria, Renal insufficiency |
ORPHA:54057 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency |
OMIM:615987 |
| Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... |
OMIM:602088 |
| Immunodeficiency 27A |
|
Anemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Incr... |
OMIM:209950 |
| Bardet-Biedl Syndrome 16 |
|
Short stature, Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Recurrent otitis ... |
OMIM:615993 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Nephrocalcinosis, Hyp... |
OMIM:179800 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Short stature, Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, ... |
OMIM:614376 |
| Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:203780 |
| Camos Syndrome |
|
Renal insufficiency, Nephrotic syndrome |
ORPHA:83472 |
| Hyperuricemia, Hprt-Related |
|
Hyperuricemia, Podagra, Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level, Jaundice, Decreased proportion of CD4-positive T cells, Hep... |
OMIM:301045 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Alg1-Cdg |
|
Abnormality of the kidney, Renal insufficiency, Hypoalbuminemia, Nephrotic syndrome |
ORPHA:79327 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Reduced natural killer cell activity, Short stature, P... |
OMIM:616050 |
| Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... |
OMIM:266900 |
| Aicardi-Goutieres Syndrome 9 |
|
Pericardial effusion, Hepatosplenomegaly, Pericarditis, Hepatic steatosis, Hepatomegaly, Hepatic ... |
OMIM:619487 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Stage 5 chronic kidney disease, Glomerular basement membrane disruption, Thickened glomerular bas... |
OMIM:609057 |
| Alport Syndrome |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... |
ORPHA:63 |
| Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency, Focal segmenta... |
OMIM:254900 |
| Drug-Induced Lupus Erythematosus |
|
Malar rash, Hematuria, Elevated circulating creatine kinase concentration, Pericarditis, Increase... |
ORPHA:231111 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Abnormality of the liver, Neutropenia, Short stature, Lymphocytosi... |
ORPHA:1667 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyop... |
OMIM:614702 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... |
ORPHA:976 |
| Frasier Syndrome |
|
Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segme... |
ORPHA:347 |
| Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Pro... |
ORPHA:439232 |
| Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal circulating lipid concentration |
ORPHA:225 |
| Sialidosis Type 2 |
|
Pedal edema, Hydrops fetalis, Short stature, Nephropathy, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:87876 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Abnormal renal physiology, Increased blood urea nitrogen, Elevated cir... |
OMIM:274150 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Pancytopenia, Hepatic steatosis, ... |
OMIM:617872 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Renal... |
OMIM:134600 |
| Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
| Galloway-Mowat Syndrome 9 |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis |
OMIM:619603 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Hypernatriuria, De... |
OMIM:300539 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Short stature, Glycosuria, Hypophosphatemia, Gener... |
OMIM:613388 |
| Nephronophthisis 7 |
|
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease |
OMIM:611498 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood urea ni... |
ORPHA:251004 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia... |
ORPHA:449395 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... |
ORPHA:247598 |
| Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma, Hypoalbuminemia |
OMIM:227090 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Perimembranous ventricular septal defect, Ascites, Oligohydramnios, Edema, Cholestasis, H... |
OMIM:608104 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Decreased hepatic echogenicity, Increased circulating creatine kinase MM isof... |
OMIM:613752 |
| Glycogen Storage Disease Ia |
|
Hyperuricemia, Short stature, Enlarged kidney, Gout, Delayed puberty, Decreased glomerular filtra... |
OMIM:232200 |
| Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Edema, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Spleno... |
OMIM:105200 |
| Uremic Pruritus |
|
Inflammatory abnormality of the skin, Stage 5 chronic kidney disease, Hypermagnesemia, Increased ... |
ORPHA:94059 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Renal insufficiency, Myoglobinuria |
OMIM:255110 |
| Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Hyperu... |
OMIM:603860 |
| Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Growth delay, Proteinuria |
OMIM:619428 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia |
OMIM:620085 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| Congenital Toxoplasmosis |
|
Anemia, Ascites, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Intraut... |
ORPHA:858 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:618913 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Decreased circulating antibody level, Generalized edema, Edema, Hypoproteinemia, Thromboc... |
OMIM:226300 |
| Hereditary Xanthinuria |
|
Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,... |
ORPHA:3467 |
| Glycogen Storage Disease Iv |
|
Polyhydramnios, Cirrhosis, Hydrops fetalis, Hepatosplenomegaly, Edema, Ascites, Portal hypertensi... |
OMIM:232500 |
| Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency, Short stature |
OMIM:618681 |
| Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Pancyto... |
ORPHA:507 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Cirrhosis, Anemia, Enlarged kidney, Ascites, Hepatocellular carcinoma, Glomer... |
OMIM:276700 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Nephrotic syndrome, Glomerular sclerosis, Elevated circulating creatine kinase concentration, Pro... |
OMIM:607426 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Rheumatoid a... |
ORPHA:49041 |
| Free Sialic Acid Storage Disease |
|
Hydrops fetalis, Nephrotic syndrome, Hepatomegaly, Ascites, Proteinuria, Splenomegaly |
ORPHA:834 |
| Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis |
ORPHA:3327 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Increased serum iron, Hepatocellular carcinoma, Azoospermia, Pleural effusion, Testicu... |
OMIM:235200 |
| Al Amyloidosis |
|
Hypertrophic cardiomyopathy, Peripheral edema, Hepatomegaly, Howell-Jolly bodies, Abnormality of ... |
ORPHA:85443 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Leukopenia, Anemia, Neutropenia, Nephrotic syndrome, Enlarged kidney, Neph... |
OMIM:617303 |
| Gaucher Disease Type 1 |
|
Leukopenia, Cirrhosis, Anemia, Pedal edema, Pericardial effusion, Increased circulating antibody ... |
ORPHA:77259 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Uric acid nephrolithiasis, Crystalluria, Hyperuricemia, Acute kidney injury, Arthritis, Gout, Ren... |
ORPHA:411543 |
| Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Hepatomegaly, Eosinophilia, ... |
OMIM:226990 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Short stature, Hypopituitarism, Hepatosplenomegaly, Hepatic steatosis, Oligohydramnios, Hypertrig... |
OMIM:619013 |
| Cystinuria |
|
Renal insufficiency, Hyperuricemia, Hematuria, Nephrolithiasis |
ORPHA:214 |
| Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Pedal edema, Short stature, Decreased circu... |
ORPHA:381 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Short stature, Decreased circulating antibody level, Bicuspid aortic valve, Decreased serum creat... |
OMIM:617744 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Abnormal liver parenchyma morphology, Anem... |
ORPHA:64743 |
| Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Microvesicular hepatic steatosis, Decreased circulating IgG level... |
OMIM:613070 |
| Denys-Drash Syndrome |
|
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:220 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Oligohydramnios, Edema, Increased LDL cholesterol... |
OMIM:616000 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hyperalaninemia, Hyperglycinemia, Elevated circulating creatine kinase concentrati... |
OMIM:619386 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Hyperbilir... |
OMIM:251880 |
| Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... |
OMIM:613095 |
| Posterior Urethral Valve |
|
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... |
ORPHA:93110 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Short stature, Abnormality of the kidney, Hepatocellular carcinoma, ... |
ORPHA:369 |
| Malaria |
|
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Peritonitis, Erysipelas, Proteinuria, Renal amyloidosis |
OMIM:134610 |
| Glycogen Storage Disease Ib |
|
Hyperuricemia, Neutropenia, Short stature, Enlarged kidney, Pancreatitis, Hepatocellular carcinom... |
OMIM:232220 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Abnormal renal insterstitial morphology, Renal insufficienc... |
OMIM:614227 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Elevated circulating thyroid-stimulating hormone concentration, Renal dysplasia, ... |
OMIM:618183 |
| Heme Oxygenase 1 Deficiency |
|
Hematuria, Nephritis, Increased circulating ferritin concentration, Elevated circulating C-reacti... |
OMIM:614034 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia |
ORPHA:28 |
| Immunodeficiency 43 |
|
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... |
OMIM:241600 |
| Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Polyhydramnios, Hydrops fetalis, Neutropenia, Abnormal macrophage morphology,... |
ORPHA:292 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Abnormal renal tubule morphology, Edema, Hypertrophic cardiomyopathy, Hyperammonemia, Growth dela... |
OMIM:611719 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Renal cyst, Edema, Hepatomeg... |
OMIM:602579 |
| Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythematous dermatitis, Maculop... |
ORPHA:79147 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hyperuricemia, Abnormality of the kidney, Renal agenesis, Proteinuria, Chr... |
ORPHA:261222 |
| Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... |
ORPHA:411634 |
| Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Growth delay, Hepatomegaly, As... |
ORPHA:2414 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Increased blood urea nitrogen, Hyperlipid... |
OMIM:235400 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Impaired T cell function, Bone marrow hypocellularity, Hyperlipidemi... |
ORPHA:1830 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, ... |
ORPHA:540 |
| Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the kidney, Nonimmune hydrops fe... |
ORPHA:1041 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Microscopic hematuria |
ORPHA:79087 |
| Senior-Boichis Syndrome |
|
Abnormal renal insterstitial morphology, Malformation of the hepatic ductal plate, Hepatosplenome... |
ORPHA:84081 |
| Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Short stature, Stage 5 chronic kidney diseas... |
OMIM:120330 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Growth delay, Hypotriglyceridemia, Hypocholesterolemia, ... |
OMIM:246700 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... |
OMIM:143400 |
| Muckle-Wells Syndrome |
|
Conjunctivitis, Recurrent aphthous stomatitis, Renal insufficiency, Short stature, Elevated circu... |
OMIM:191900 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1909 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Autoimmune Hepatitis |
|
Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, ... |
ORPHA:2137 |
| Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
| Mulibrey Nanism |
|
Nephroblastoma, Hydrops fetalis, Pericardial constriction, Short stature, Myocardial fibrosis, Gr... |
OMIM:253250 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Reduced natural killer cell activity, Jaundice, Pa... |
OMIM:603553 |
| Denys-Drash Syndrome |
|
Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Nephropathy,... |
OMIM:194080 |
| Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Pericardial effusion, Polycystic kidney dysplasia, Hepatosple... |
OMIM:608776 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti... |
OMIM:617610 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Nephrocalcinosis, ... |
OMIM:616026 |
| Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Angioedema, Pericardial effusion, Hematuria, Abnormal heart valve morphology, Ple... |
ORPHA:36412 |
| Bacterial Toxic-Shock Syndrome |
|
Septic arthritis, Myocarditis, Osteomyelitis, Infectious encephalitis, Recurrent urinary tract in... |
ORPHA:36234 |
| Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Short stature, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria... |
ORPHA:97362 |
| Hyperlysinuria With Hyperammonemia |
|
Hyperlysinemia, Hyperlysinuria, Dibasicaminoaciduria, Hyperammonemia, Growth delay |
OMIM:238750 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... |
OMIM:267700 |
| Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... |
OMIM:615122 |
| Wilson Disease |
|
Aminoaciduria, Pedal edema, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration,... |
OMIM:277900 |
| Glycogen Storage Disease Ic |
|
Hyperuricemia, Chronic pancreatitis, Hematuria, Stomatitis, Gout, Inflammation of the large intes... |
OMIM:232240 |
| Dent Disease 1 |
|
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Short stature, Stage 5 chronic kidn... |
OMIM:300009 |
| Liddle Syndrome |
|
Hypokalemia, Nephropathy, Renal insufficiency |
ORPHA:526 |
| Galloway-Mowat Syndrome 3 |
|
Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease, Glomerular sclerosis, Diffuse ... |
OMIM:617729 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Abnormal lymph node morphology, Abnormal testis morphology, Hepatosplenome... |
ORPHA:85450 |
| Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Arthritis, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:375 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Abnormal renal physiology, Glomerular sclerosis, Increased blood urea nitrogen, Growth delay, Ele... |
OMIM:223900 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Hepatic fibrosis, Membranoproliferative glomerulonephritis, Pancytopenia, Hepatosplenomegaly, Hem... |
OMIM:619858 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchlor... |
OMIM:602522 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Hepatic steatosis, Hepatomegaly, Pancreatitis, Microcytic anemia, Hypoalb... |
OMIM:618805 |
| Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Nephritis, Proteinuria |
ORPHA:182050 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Polyhydramnios, Cirrhosis, Dilated cardiomyopathy, Nonimmune hydrops fetalis, Hepatosplenomegaly,... |
ORPHA:367 |
| Urofacial Syndrome 2 |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency... |
OMIM:615112 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... |
OMIM:620138 |
| Coach Syndrome 3 |
|
Renal tubular atrophy, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal interst... |
OMIM:619113 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal cyst, Renal insufficiency, Hematuria, Elevated circulating creatine kinase concentration |
OMIM:611773 |
| Systemic Sclerosis |
|
Osteomyelitis, Acute kidney injury, Abnormality of the kidney, Arthritis, Elevated circulating cr... |
ORPHA:90291 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Cirrhosis, Microvesicular hepatic steatosis, Polyhydramnios, 4-hydroxyphenyla... |
OMIM:617156 |
| Citrullinemia Type Ii |
|
Hepatic fibrosis, Cerebral edema, Hepatocellular carcinoma, Acute hyperammonemia, Delayed menarch... |
ORPHA:247585 |
| Cednik Syndrome |
|
Proteinuria, Short stature, Nephrotic syndrome |
ORPHA:66631 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Polyhydramnios, Splenomegaly, Ventricular septal defect, Pulmonary lymphangiectasia, Hepatospleno... |
ORPHA:1655 |
| Hinman Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone... |
ORPHA:84085 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nodular regenerative hyperplasia of liver, Macular edema, Normocytic anemia, Glomerular sclerosis... |
ORPHA:247691 |
| Primary Hyperoxaluria Type 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... |
ORPHA:93599 |
| Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Nep... |
OMIM:301050 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Hydrops fetalis, Portal vein hypoplasia, Portal artery hyperplasia, H... |
OMIM:619433 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria |
OMIM:260000 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine kinase, Elevated ci... |
ORPHA:368 |
| Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Hypoalbuminemia |
ORPHA:1954 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopamine, Hyperca... |
ORPHA:276621 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Edema, Dehydration, Abnormal circulating prote... |
ORPHA:103910 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Urinary bladder sphincter dysfunction, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
| Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Neutropenia, Hepatitis, Lymphadenopathy, Increased ci... |
ORPHA:158061 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hyperammonemia, Growth delay, Renal insufficiency, Pancreatitis, Renal tubular dysfunction |
ORPHA:289916 |
| Acrorenal Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology |
ORPHA:971 |
| Trichohepatoenteric Syndrome 1 |
|
Polyhydramnios, Abnormality of iron homeostasis, Galactosuria, Hepatomegaly, Renal cortical micro... |
OMIM:222470 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... |
OMIM:602347 |
| Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Vesicoureteral reflux, Hydronephrosis, Ventricular septal defect, Lymphedema, Pericardial effusio... |
OMIM:235510 |
| Mu-Heavy Chain Disease |
|
Anemia, Increased circulating antibody level, Abnormal B cell count, Nephropathy, Lymphadenopathy... |
ORPHA:100024 |
| Gracile Bone Dysplasia |
|
Asplenia, Short stature, Hypocalcemia, Ascites, Hypoplastic spleen, Micropenis |
OMIM:602361 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... |
OMIM:619313 |
| Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria |
OMIM:261100 |
| Granulomatous Slack Skin |
|
Acute kidney injury, Nephrocalcinosis, Hypercalcemia |
ORPHA:33111 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, Growth delay, Myoglob... |
ORPHA:57 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating A-type atrial natriuretic peptide concentration, Cirrhosis, Pulmonary edema,... |
ORPHA:57777 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Polyhydramnios, Splenomegaly, Ventricular septal defect, Lymphedema, Thyroid lymphangiectasia, Pu... |
OMIM:235255 |
| Galactosemia |
|
Cirrhosis, Hypergalactosemia, Increased level of galactitol in plasma, Jaundice, Abnormal erythro... |
ORPHA:352 |
| Eosinophilic Gastroenteritis |
|
Anemia, Edema, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia,... |
ORPHA:2070 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Short stature, Proteinuria, Nephrotic syndrome |
ORPHA:1192 |
| Familial Atrial Myxoma |
|
Pedal edema, Bacterial endocarditis, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis... |
ORPHA:615 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypocalciuria, Renal magnesium wasting, Renal insufficiency, Hypomagnesemia |
OMIM:154020 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Short stature, Nephrotic syndrome, Mucopolysacchariduria, Decreased c... |
OMIM:215250 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Sup... |
ORPHA:284426 |
| Schimke Immunoosseous Dysplasia |
|
Anemia, Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:242900 |
| Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Nephrotic syndrome, Pericardial effusion, Microangiopathic hemolytic anemia, Hematuri... |
ORPHA:93552 |
| Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine ... |
ORPHA:99845 |
| Senior-Loken Syndrome |
|
Stage 5 chronic kidney disease, Nephronophthisis, Short stature, Chronic kidney disease |
ORPHA:3156 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Ventricular septal defect, Glycosuria, Jaundice, Nephropat... |
OMIM:613404 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Proximal tubulopathy, Short stature, Hypophosphatemia, Hypophosphatemic ... |
OMIM:300554 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Renal insufficiency, Hyperc... |
ORPHA:99879 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Proximal tubulopathy, Hepatic fibrosis, Decreased circulating IgG level, Nephroti... |
OMIM:212065 |
| Renal Cysts And Diabetes Syndrome |
|
Hyperuricemia, Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Unilateral ... |
OMIM:137920 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G... |
ORPHA:3337 |
| Cystinosis |
|
Aminoaciduria, Short stature, Hypophosphatemia, Hypokalemia, Nephropathy, Delayed puberty, Protei... |
ORPHA:213 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Left ventricular hypertrophy, Elevated circulating creatine kinase concentrat... |
OMIM:617713 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Cirrhosis, Jaundice, Nonimmune hydrops fetalis, Elevated circulating alpha-fetoprotein concentrat... |
OMIM:617049 |
| Multiple Myeloma |
|
Anemia, Nephrotic syndrome, Acute kidney injury, Decreased circulating antibody level, Abnormalit... |
ORPHA:29073 |
| Avian Influenza |
|
Conjunctivitis, Myelitis, Acute kidney injury, Hepatitis, Elevated circulating creatine kinase co... |
ORPHA:454836 |
| Systemic Lupus Erythematosus |
|
Malar rash, Arthritis, Nephritis, Pericarditis, Lupus nephritis |
OMIM:152700 |
| Klippel-Trénaunay Syndrome |
|
Hydrops fetalis, Hematuria, Atrial septal defect, Edema, Hepatomegaly, Ascites, Abnormal tricuspi... |
ORPHA:90308 |
| 46,Xy Sex Reversal 4 |
|
Renal dysplasia, Recurrent otitis media, Increased blood urea nitrogen, Ureteropelvic junction ob... |
OMIM:154230 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Pleural effusion, Hypertrophic cardio... |
OMIM:616897 |
| Congenital Analbuminemia |
|
Pedal edema, Increased circulating antibody level, Increased alpha-globulin, Oligohydramnios, Ede... |
ORPHA:86816 |
| Senior-Loken Syndrome 8 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Global glomerulosclerosis, Glomerular subepithe... |
OMIM:616307 |
| Joubert Syndrome 4 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Nephronophthisis, Abnormal renal medulla mor... |
OMIM:609583 |
| Caroli Disease |
|
Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Liver abscess, Polycystic ki... |
ORPHA:53035 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Short stature, Hematuria, Mesomelic short stature, Nephropathy, Proteinuria, Intrauterine growth ... |
ORPHA:1765 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Oligohydramnios, Hypertro... |
OMIM:620135 |
| Sclerosing Cholangitis, Neonatal |
|
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic st... |
OMIM:617394 |
| Amyloidosis, Finnish Type |
|
Renal insufficiency, Nephrotic syndrome |
OMIM:105120 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Crusting erythematous dermatitis, Eczema, Abnormal blood ion concentr... |
ORPHA:37042 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Patent foramen ovale, Leukopenia, Anemia, Decreased circulating IgG level, Nephrotic syndrome, En... |
ORPHA:505248 |
| Hypomagnesemia 3, Renal |
|
Hyperuricemia, Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiu... |
OMIM:248250 |
| Xfe Progeroid Syndrome |
|
Severe short stature, Renal insufficiency, Proteinuria, Hypoalbuminemia |
OMIM:610965 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
| Apparent Mineralocorticoid Excess |
|
Short stature, Decreased circulating renin level, Renal sodium wasting, Hypokalemia, Nephrocalcin... |
ORPHA:320 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Stage 5 chronic kidney disease, Renal insufficiency, Bilateral renal atrophy, Proteinuria |
OMIM:166300 |
| Nephronophthisis 16 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... |
OMIM:615382 |
| Secondary Intestinal Lymphangiectasia |
|
Cirrhosis, Decreased prealbumin level, Decreased circulating total IgM, Decreased circulating ant... |
ORPHA:90363 |
| Relapsing Fever |
|
Increased total bilirubin, Acute kidney injury, Hematuria, Elevated circulating C-reactive protei... |
ORPHA:91547 |
| Complement Factor I Deficiency |
|
Septic arthritis, Recurrent urinary tract infections, Pyelonephritis, Recurrent sinusitis, Recurr... |
OMIM:610984 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Ascites, Hepatomegaly |
ORPHA:2198 |
| Mpi-Cdg |
|
Hepatic fibrosis, Edema, Hepatomegaly, Portal hypertension, Hypoalbuminemia |
ORPHA:79319 |
| Nephronophthisis 3 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:604387 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:256100 |
| Galloway-Mowat Syndrome 1 |
|
Short stature, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Renal insufficiency,... |
OMIM:251300 |
| Bardet-Biedl Syndrome 19 |
|
Renal hypoplasia, Renal insufficiency, Hydronephrosis |
OMIM:615996 |
| Megabladder, Congenital |
|
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Fetal megacystis, Multiple glomerular cysts |
OMIM:618719 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Cardiomyopathy, Hydrops fetalis, Abnormality of the liver, Hyperhomocystinemi... |
ORPHA:88618 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Exercise-induced myoglobinuria, Hyperuricemia, Gout |
OMIM:232800 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Congenital thrombocytopenia, Acute kidney injury, Increased circulating fe... |
OMIM:618886 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Gout, Decreased glomerular filtratio... |
OMIM:618061 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Renal cell carcinoma, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis, Elevated uri... |
ORPHA:29072 |
| Cirrhosis, Familial |
|
Cirrhosis, Biliary cirrhosis, Fulminant hepatitis, Jaundice, Micronodular cirrhosis, Increased le... |
OMIM:215600 |
| Chylous Ascites |
|
Ascites, Pancreatitis, Lymphedema |
ORPHA:1160 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Short stature, Lymphadenopathy, Bone-marrow foam cells, Hepatomegaly, Asc... |
OMIM:257200 |
| Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency |
ORPHA:254857 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Hyperechogenic kidneys |
OMIM:619111 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria |
OMIM:610205 |
| Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:98895 |
| Wolman Disease |
|
Anemia, Bone-marrow foam cells, Hepatomegaly, Growth delay, Ascites, Splenomegaly |
ORPHA:75233 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Conjunctivitis, Short stature, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:242150 |
| Alg6-Cdg |
|
Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver, Hypoalbuminemia |
ORPHA:79320 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Hematuria, Abnormal ren... |
OMIM:308940 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Polyhydramnios, Pedal edema, Pulmonary lymphangiectasia, Mild postnatal growth retardation, Nonim... |
OMIM:265300 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinuria, Ren... |
OMIM:614748 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Polyhydramnios, Hydrops fetalis, Fetal ascites, Hepatomegaly, Splenomegaly |
OMIM:619462 |
| Nephronophthisis 18 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Thickened gl... |
OMIM:615862 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Increased hepatic glycogen content, Hepatomegaly, Hyperlipidemia, Hypertrig... |
OMIM:232700 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Hepatomegaly, Portal hyperte... |
OMIM:619463 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Rhinitis, Nocturia, Elevated urinary dopamine, Increased blood urea nitrogen, Elevated circulatin... |
ORPHA:230 |
| Retinitis Pigmentosa 59 |
|
Renal insufficiency, Micropenis, Intrauterine growth retardation |
OMIM:613861 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Acute kidney injury, Hemoglobinuria, Glycosuria, Unconjugated hyperbil... |
ORPHA:447 |
| Lysinuric Protein Intolerance |
|
Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Hypercholeste... |
ORPHA:470 |
| Orthostatic Hypotension 1 |
|
Increased blood urea nitrogen, Hypomagnesemia, Nocturia |
OMIM:223360 |
| Refractory Celiac Disease |
|
Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
| Lymphatic Malformation 7 |
|
Anemia, Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial sept... |
OMIM:617300 |
| Aggressive Systemic Mastocytosis |
|
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Incre... |
ORPHA:98850 |
| Lymphatic Malformation 6 |
|
Polyhydramnios, Short stature, Lymphedema, Nonimmune hydrops fetalis, Atrial septal defect, Hydro... |
OMIM:616843 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Hepatic calcification, Hepat... |
OMIM:608836 |
| Thyrocerebroretinal Syndrome |
|
Nephritis |
OMIM:274240 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Microvesicular hepatic steatosis, Decreased plasma carnitine, Dicarboxylic acidur... |
OMIM:212140 |
| Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Arthritis, Myositis, Pustule, Proteinuria, Increased inflammatory response, Acne |
ORPHA:69126 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Highly elevated creatine kinase, Exercise-induced myoglobinuria |
ORPHA:352479 |
| Nephrogenic Diabetes Insipidus |
|
Hyposthenuria, Enuresis nocturna, Short stature, Hydroureter, Growth delay, Renal insufficiency, ... |
ORPHA:223 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal duplication, Aplasia of the bladder, Renal dysplasia, Glomerular sclerosis, Elevated circul... |
ORPHA:158684 |
| Hennekam Syndrome |
|
Hydrops fetalis, Decreased circulating antibody level, Pericardial effusion, Lymphedema, Pulmonar... |
ORPHA:2136 |
| Alg12-Cdg |
|
Abnormal circulating IgG level, Patent foramen ovale, Polyhydramnios, Abnormal circulating IgM le... |
ORPHA:79324 |
| Acquired Ichthyosis |
|
Renal insufficiency, Recurrent skin infections |
ORPHA:454 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Myoglobinuria, Hyperbilirubinemia |
ORPHA:713 |
| Plasminogen Deficiency, Type I |
|
Conjunctivitis, Periodontitis, Nephritis, Decreased level of plasminogen, Nephrolithiasis |
OMIM:217090 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypermagnesiuria, Renal calci... |
OMIM:248190 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration... |
OMIM:255120 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatosplenomegaly, Hepatoblastoma, Reduced renal corticomedullary differenti... |
ORPHA:731 |
| Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Proteinuria, Hematuria |
ORPHA:90060 |
| Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
| Tempi Syndrome |
|
Increased hematocrit, Abnormality of the kidney, Polycythemia, Transudative pleural effusion, Asc... |
ORPHA:284227 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Elevated circulating long chain fatty acid concentration, Hypospadias, Albuminuria... |
OMIM:214100 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration |
OMIM:616239 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemia, T lymphocytopenia, Urinary ... |
ORPHA:79124 |
| Birk-Landau-Perez Syndrome |
|
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Increased circulating creatine kina... |
OMIM:617595 |
| Dyschondrosteosis And Nephritis |
|
Mesomelic short stature, Nephritis |
OMIM:127350 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Pyelonephritis, Nephritis, Renal dysplasia |
OMIM:314300 |
| Cockayne Syndrome Type 1 |
|
Conjunctivitis, Uveitis, Increased blood urea nitrogen, Proteinuria, Renal insufficiency, Postnat... |
ORPHA:90321 |
| Pseudo-Torch Syndrome 2 |
|
Ascites, Secundum atrial septal defect, Pleural effusion, Hepatomegaly, Abnormal renal corticomed... |
OMIM:617397 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Exercise-induced myoglobinuria, Decreased plasma ca... |
OMIM:201475 |
| Nephrolithiasis, Calcium Oxalate |
|
Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
| Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Gr... |
OMIM:606966 |
| Jeune Syndrome |
|
Nephronophthisis, Nephropathy, Renal insufficiency, Short stature |
ORPHA:474 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:119 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia, Postnatal growth retardation |
OMIM:615361 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt... |
ORPHA:232 |
| Alstrom Syndrome |
|
Tubulointerstitial nephritis, Hyperuricemia, Short stature, Chronic active hepatitis, Nephritis, ... |
OMIM:203800 |
| Pseudomyxoma Peritonei |
|
Ascites, Lymphadenopathy, Abnormality of the peritoneum |
ORPHA:26790 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Hepatit... |
ORPHA:186 |
| Alg8-Cdg |
|
Anemia, Hydrops fetalis, Oligohydramnios, Edema, Thrombocytopenia, Hyponatremia, Ascites, Intraut... |
ORPHA:79325 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Cardiomyopathy, Elevated circulating acylcarnitine concentration, D... |
ORPHA:228308 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Skin rash, Decreased urine output, Hyperbilirubinemia, Elevated circulating ... |
ORPHA:542323 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:300559 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ... |
OMIM:146255 |
| Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Recurren... |
OMIM:619644 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Anemia, Pleural empyema, Liver abscess, Pleural effusion, Constr... |
ORPHA:67 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria, Hypoalbuminemia, Intrauterine growth retardation, Elevated circulating creatine ki... |
OMIM:619055 |
| Mucopolysaccharidosis Type 7 |
|
Hydrops fetalis, Lymphedema, Hepatitis, Mucopolysacchariduria, Ascites, Splenomegaly |
ORPHA:584 |
| Laurence-Moon Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Displacement of the urethral meatus, Short stature |
ORPHA:2377 |
| Ochoa Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Renal insufficie... |
ORPHA:2704 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Pedal edema, Abnormal mean co... |
ORPHA:86839 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Rhizomelia, Short stature, Unilateral renal agenesis, Renal hypoplasia, Chronic kidney disease |
OMIM:617661 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Glycosuria, Moderate postnatal growth retardation, Nephropath... |
ORPHA:69076 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Hemog... |
OMIM:194380 |
| Dengue Fever |
|
Leukopenia, Hypoproteinemia, Hepatomegaly, Ascites, Thrombocytopenia |
ORPHA:99828 |
| Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia, Renal insufficiency |
OMIM:177200 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Tubulointerstitial nephritis, Proteinuria, Hematuria, Short stature |
OMIM:616901 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Hemoglobinuria, Jaundice, Fava bean-induced hemoly... |
OMIM:300908 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Hyperammonemia, Pancreatitis |
ORPHA:79312 |
| Primary Sclerosing Cholangitis |
|
