| Nephrotic Syndrome, Type 21 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Podocyte foot process effac... |
OMIM:618594 |
| Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
| Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis, Focal segmental glomeruloscler... |
OMIM:615573 |
| Nephrotic Syndrome, Type 15 |
|
Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Steroid-resistant... |
OMIM:617609 |
| Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... |
OMIM:614131 |
| Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
| Nephrotic Syndrome, Type 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyperlipidemia, Focal segmental ... |
OMIM:600995 |
| Nephrotic Syndrome, Type 7 |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic-uremic syndrome, Thic... |
OMIM:615008 |
| Primary Membranoproliferative Glomerulonephritis |
|
Microscopic hematuria, Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic ... |
ORPHA:54370 |
| Renal Failure, Progressive, With Hypertension |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephriti... |
OMIM:161900 |
| Nephrotic Syndrome, Type 17 |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Short stature, Focal segmenta... |
OMIM:618176 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrolithiasis, Focal ... |
OMIM:614650 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... |
OMIM:614196 |
| Nephrotic Syndrome, Type 3 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc... |
OMIM:610725 |
| Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Podocyte foot process effacement, Minimal change glomeru... |
OMIM:619201 |
| Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome |
OMIM:249660 |
| Nephrotic Syndrome, Type 18 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:301028 |
| Focal Segmental Glomerulosclerosis 8 |
|
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
| Focal Segmental Glomerulosclerosis 10 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Minimal change glomerulonephrit... |
OMIM:256020 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... |
OMIM:616002 |
| Interstitial Nephritis, Karyomegalic |
|
Renal interstitial fibrosis, Proteinuria, Renal tubular cyst, Stage 5 chronic kidney disease, Tub... |
OMIM:614817 |
| Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Proteinuria, Glomerulopathy, Renal insufficiency |
OMIM:611771 |
| Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrotic syndrome, Focal se... |
OMIM:603965 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Microscopic hematuria, Renal tubular atrophy, Hypophosphatemia, Nephrocalcinosis, Glycosuria, Bet... |
OMIM:308990 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Renal tubular atrophy, Hyperuricemia, Chronic kidney disease, Focal segmental glomer... |
OMIM:613092 |
| Fibronectin Glomerulopathy |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abno... |
ORPHA:84090 |
| Nephrotic Syndrome, Type 24 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Renal cortical hyperech... |
OMIM:619263 |
| Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Edema, Anemia, Reduced renal corticomedullary differ... |
OMIM:603278 |
| Hyperprolinemia Type 1 |
|
Hyperprolinemia, Proteinuria, Nephropathy, Prolinuria |
ORPHA:419 |
| Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:620049 |
| Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Hypoproteinemia, Stage 5 chronic kidney disease, Thickened glomerular base... |
OMIM:619155 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria |
OMIM:607832 |
| Focal Segmental Glomerulosclerosis 5 |
|
Microscopic hematuria, Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney di... |
OMIM:613237 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Glomerular C3 deposi... |
ORPHA:567544 |
| Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... |
OMIM:618349 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephroti... |
OMIM:601894 |
| Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis |
OMIM:613944 |
| Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins... |
OMIM:310468 |
| Nephrotic Syndrome, Type 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic kidney disease,... |
OMIM:615244 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:137950 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout, Chronic kidney disease, Renal cyst, Hyperuricemia, Nephropathy, Intrauterine growth retarda... |
OMIM:617056 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Proteinuria, Acute kidney injury, Abnormal circulating lipid concentration, Diffuse ... |
ORPHA:567548 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome, Hypoalbuminemia |
OMIM:614652 |
| Nail-Patella-Like Renal Disease |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Short stature |
ORPHA:2613 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Proteinuria, Diffuse mesangial sclerosis, Chronic kidney disease, Stage 5 chronic ki... |
ORPHA:656 |
| Pentosuria |
|
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... |
ORPHA:2843 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Proteinuria, Renal tubular atrophy, Diffuse mesangial sclerosis, Hypoalbuminemia... |
OMIM:256300 |
| Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy |
OMIM:182690 |
| Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circula... |
OMIM:614455 |
| C3 Glomerulopathy 3 |
|
Microscopic hematuria, Glomerulonephritis, Glomerular C3 deposition, Stage 5 chronic kidney disea... |
OMIM:614809 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Stage 5 chronic kidney disea... |
OMIM:614377 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Gout, Decreased glomerular filtration rate, Hyperuricemia, Renal insuffici... |
OMIM:162000 |
| Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal physiology, Chronic kidney disease, Decreased glomerular filt... |
ORPHA:94088 |
| Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ... |
OMIM:616730 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia |
OMIM:609886 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercel... |
OMIM:616818 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis |
OMIM:161950 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic-uremic syndrome, Incr... |
OMIM:612925 |
| Nephrotic Syndrome, Type 16 |
|
Minimal change glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome |
OMIM:617783 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Severe short stature, Decreased glomerular filtration rate, Elevated circulating cre... |
OMIM:242530 |
| Nephrotic Syndrome, Type 10 |
|
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Podocyte foot process ef... |
OMIM:615861 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... |
OMIM:612926 |
| Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Periglomerular fibrosis, Bronchiectasis, Pol... |
OMIM:619468 |
| Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Multiple renal ... |
OMIM:620056 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... |
OMIM:612924 |
| C3 Glomerulopathy |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrot... |
ORPHA:329918 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubular basement membrane disintegration, Decreased glomerular filtration ... |
OMIM:174000 |
| Branchiootorenal Syndrome 2 |
|
Renal dysplasia, Renal insufficiency |
OMIM:610896 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Acute kidney injury, Uric acid nephrolithiasis, Hyperuricosuria, Hypouricemia, Renal... |
OMIM:220150 |
| Xanthinuria, Type Ii |
|
Hypouricemia, Renal insufficiency, Increased urinary hypoxanthine, Nephrolithiasis, Increased cir... |
OMIM:603592 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Nephrolithiasis, Hematuria, Urolithiasis,... |
OMIM:614723 |
| Galloway-Mowat Syndrome 6 |
|
Proteinuria, Intrauterine growth retardation, Short stature, Nephrotic syndrome, Growth delay, Fo... |
OMIM:618347 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Renal insufficiency, Glomerulonephritis, Nephrotic syndrome, Glomerular deposits |
ORPHA:69063 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Proteinuria, Nephropathy, Severe short stature |
ORPHA:2820 |
| Cystinuria |
|
Recurrent urinary tract infections, Hyperlysinuria, Renal insufficiency, Argininuria, Ornithinuri... |
OMIM:220100 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Abnormal uri... |
ORPHA:730 |
| Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Abnormal renal tubule morphology, Nephrot... |
ORPHA:839 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Stage 5 chronic kidney disease, Intrauterine growth retardation, Short stature, Neph... |
OMIM:301006 |
| Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Abnormal renal physiology, Chronic kidney disease, Hematuria, Elevated circulating c... |
OMIM:123550 |
| Galloway-Mowat Syndrome 4 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc... |
OMIM:617730 |
| Nephrotic Syndrome, Type 14 |
|
Proteinuria, Micropenis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic s... |
OMIM:617575 |
| Fanconi Renotubular Syndrome 3 |
|
Glycosuria, Short stature, Aminoaciduria, Growth delay, Hyperphosphaturia, Low-molecular-weight p... |
OMIM:615605 |
| Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria |
OMIM:160010 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Acholic stools, Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegal... |
OMIM:619868 |
| Galloway-Mowat Syndrome 10 |
|
Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process effacement, Diffuse mesangial ... |
OMIM:619609 |
| Nephrosialidosis |
|
Bone-marrow foam cells, Renal insufficiency, Nephropathy, Nephrotic syndrome, Pericardial effusio... |
OMIM:256150 |
| Complement Component C1R/C1S Deficiency |
|
Nephritis, Discoid lupus rash, Arthritis |
OMIM:216950 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Colitis, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glomer... |
OMIM:617006 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease |
OMIM:602114 |
| Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Acute kidney injury, Chronic kidney disease, Intrauterine... |
ORPHA:275555 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal... |
OMIM:601331 |
| Glycogen Storage Disease X |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Myoglobinuria |
OMIM:261670 |
| Galactosemia I |
|
Galactosuria, Hypergalactosemia, Albuminuria, Increased level of galactitol in plasma, Increased ... |
OMIM:230400 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Proteinuria, Abnormal circulating lipid concentration, Nephrotic syndrome, Membranoproliferative ... |
OMIM:608709 |
| Glycogen Storage Disease Xi |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Increased serum pyruvate... |
OMIM:612933 |
| Dent Disease 2 |
|
Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Short stature, Elevated circulating c... |
OMIM:300555 |
| Alpha-Heavy Chain Disease |
|
Anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Growth delay, Dysgammaglobulin... |
ORPHA:100025 |
| Alport Syndrome 3, Autosomal Dominant |
|
Microscopic hematuria, Proteinuria, Glomerulonephritis, Hypophosphatemia, Stage 5 chronic kidney ... |
OMIM:104200 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria, Jaundice, Cholestasis, Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, H... |
OMIM:620010 |
| Frasier Syndrome |
|
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:136680 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... |
OMIM:611555 |
| Galloway-Mowat Syndrome 5 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:617731 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria, Intrauterine growth retardation |
OMIM:189800 |
| Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
| Complement Factor H Deficiency |
|
Thickened glomerular basement membrane, Hematuria, Chronic kidney disease, Glomerular subendothel... |
OMIM:609814 |
| Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ... |
OMIM:618348 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Acute kidney injury, Gout, Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Renal insuf... |
ORPHA:79233 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Increased total bilirubin, Renal cyst, Ascites |
OMIM:174050 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Chronic kidney disease, Macroscopic hematu... |
ORPHA:567546 |
| Hepatic Veno-Occlusive Disease |
|
Jaundice, Renal insufficiency, Hepatomegaly, Increased total bilirubin, Ascites |
ORPHA:890 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Renal insufficiency, Proteinuria, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Splenoportal Vascular Anomalies |
|
Hyperammonemia, Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, ... |
OMIM:271500 |
| Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease |
OMIM:615995 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal cyst, Heavy proteinuria, Intrauterine growth retardation, Nep... |
ORPHA:255249 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Renal insufficien... |
ORPHA:411536 |
| Neuraminidase Deficiency |
|
Vacuolated lymphocytes, Proteinuria, Hydrops fetalis, Bone-marrow foam cells, Cardiomyopathy, Fac... |
OMIM:256550 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Abnormality of the ureter, Polyhydramnios, Renal hypoplasia/aplasia, Hypoplasia of penis,... |
ORPHA:1046 |
| Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Gout, Hyperuricemia |
ORPHA:510 |
| Nephronophthisis 20 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Pauci-Immune Glomerulonephritis |
|
Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Decreased glomerular... |
ORPHA:93126 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Membranoproliferative glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:613913 |
| Diffuse Neonatal Hemangiomatosis |
|
Hydrops fetalis, Anemia, Polyhydramnios, Renal insufficiency, Hepatomegaly, Renal hypoplasia/apla... |
ORPHA:2123 |
| Hanac Syndrome |
|
Renal insufficiency, Multiple renal cysts, Hematuria |
ORPHA:73229 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Hypercalcemia |
ORPHA:2668 |
| Xanthinuria, Type I |
|
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Xanthinuria |
OMIM:278300 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Renal insufficiency, Elevated circu... |
ORPHA:228302 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Increased serum pyruvate... |
ORPHA:2364 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Proteinuria, Acute kidney injury, Stage 5... |
ORPHA:650 |
| Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Hydrops fetalis, Hepatomegaly, Conjugated hyperbilirubinemia, Nephrotic s... |
OMIM:269920 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hemophagocytosis, Aplastic anemia, Neutropenia, Hepatomegaly, Reduced natural killer cell activit... |
OMIM:308240 |
| Bardet-Biedl Syndrome 14 |
|
Renal insufficiency |
OMIM:615991 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Hyperuricemia, Chronic kidney disease, Increased blood urea nitrogen, Renal salt was... |
OMIM:613845 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syn... |
OMIM:613779 |
| Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Acute kidney injury, Hematuria |
ORPHA:2134 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy, Intrauterine growt... |
OMIM:616733 |
| Immunodeficiency, Common Variable, 6 |
|
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Autoimmune t... |
OMIM:613496 |
| Dent Disease |
|
Renal hypophosphatemia, Proteinuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney dise... |
ORPHA:1652 |
| Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Thromboc... |
ORPHA:295 |
| Glycogen Storage Disease V |
|
Hyperuricemia, Elevated circulating creatine kinase concentration, Dark urine, Myoglobinuria |
OMIM:232600 |
| Thrombotic Thrombocytopenic Purpura |
|
Proteinuria, Acute kidney injury, Renal insufficiency, Decreased serum creatinine, Hematuria |
ORPHA:54057 |
| Nephronophthisis 2 |
|
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... |
OMIM:602088 |
| Primary Intestinal Lymphangiectasia |
|
Decreased proportion of CD3-positive T cells, Intestinal lymphangiectasia, Hypomagnesemia, Edema,... |
ORPHA:90362 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
| Bardet-Biedl Syndrome 16 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Short stature, Renal dysplasia, ... |
OMIM:615993 |
| Alport Syndrome 2, Autosomal Recessive |
|
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Thickened glomerular basement m... |
OMIM:203780 |
| Camos Syndrome |
|
Renal insufficiency, Nephrotic syndrome |
ORPHA:83472 |
| Renal Tubular Acidosis, Distal, 1 |
|
Nephrocalcinosis, Impaired urinary acidification, Hypokalemia, Nephrolithiasis, Hypocalcemia, Dis... |
OMIM:179800 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614376 |
| Hyperuricemia, Hprt-Related |
|
Hyperuricemia, Hyperuricosuria, Renal insufficiency, Nephrolithiasis, Podagra |
OMIM:300323 |
| Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Increased circulating IgM level, Increas... |
OMIM:209950 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Hepatomegaly, Micronodular cirrhosis, Hepatic steatosis, Ascites, Decreased circulating... |
OMIM:301045 |
| Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Hepatosplenomegaly, Recurrent urinary tract i... |
OMIM:619487 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria, Hyperkalemia |
OMIM:268200 |
| Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia |
ORPHA:79327 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Nephritis, Glomerular basement membrane disruption, Thickened glomerular basement membrane, Stage... |
OMIM:609057 |
| Senior-Loken Syndrome 1 |
|
Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency,... |
OMIM:266900 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Short stature, Reduced natural killer cell activity, Reduced natural killer cell count, T... |
OMIM:616050 |
| Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
| Alport Syndrome |
|
Microscopic hematuria, Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Glomer... |
ORPHA:63 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Nonimmune hydrops fetalis, Extramedullary hematopoiesis, Ventricular septal defect, Anemia, Intra... |
OMIM:617021 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Nephropathy, Nephrotic syndrome, Focal segmenta... |
OMIM:254900 |
| Drug-Induced Lupus Erythematosus |
|
Malar rash, Increased blood urea nitrogen, Elevated circulating creatine kinase concentration, He... |
ORPHA:231111 |
| Sialidosis Type 2 |
|
Hydrops fetalis, Hepatomegaly, Short stature, Nephropathy, Splenomegaly, Pedal edema, Ascites |
ORPHA:87876 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperammonemia, Hyperalaninemia, Intrauterine growth retardation, Pericardial effusion, Oligohydr... |
OMIM:614702 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Recurrent urinary tract infections, Proteinuria, Acute kidney injury, Urinary retention, Uric aci... |
ORPHA:976 |
| Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Jaundice, Dehydration, Hyperammonemia, Hypoalbuminemia, Chroni... |
ORPHA:1667 |
| Frasier Syndrome |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
| Maternally-Inherited Diabetes And Deafness |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Abnormal circulating lipid concentration |
ORPHA:225 |
| Aapoaiv Amyloidosis |
|
Proteinuria, Renal interstitial amyloid deposits, Chronic kidney disease, Renal amyloidosis, Hype... |
ORPHA:439232 |
| Renal Hypoplasia |
|
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... |
ORPHA:93101 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Decreased serum creatinine, Reduced blood urea nitrogen, Hyponatremia, Hyposthenu... |
OMIM:300539 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microscopic hematuria, Proteinuria, Abnormal renal physiology, Hemolytic-uremic syndrome, Increas... |
OMIM:274150 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Increased blood urea nitrogen, Elevated circulating thyroid-stimulating hormone con... |
OMIM:617872 |
| Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Glycosuria, Renal insufficiency, Short stature, Renal tubular dysfunction, Hypo... |
OMIM:134600 |
| Galloway-Mowat Syndrome 9 |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis |
OMIM:619603 |
| Fanconi Renotubular Syndrome 2 |
|
Proteinuria, Hypophosphatemia, Decreased glomerular filtration rate, Glycosuria, Renal phosphate ... |
OMIM:613388 |
| Nephronophthisis 7 |
|
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:611498 |
| Igg4-Related Kidney Disease |
|
Chronic sinusitis, Inflammatory abnormality of the skin, Enlarged kidney, Urethritis, Albuminuria... |
ORPHA:449395 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Delayed puberty, Proteinuria, Enlarged kidney, Macroscopic hematuria, Short stature, Increased bl... |
ORPHA:251004 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... |
ORPHA:247598 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Decreased hepatic echogenicity, Cardiomyopathy,... |
OMIM:613752 |
| Glycogen Storage Disease Ia |
|
Delayed puberty, Proteinuria, Gout, Enlarged kidney, Decreased glomerular filtration rate, Hyperu... |
OMIM:232200 |
| Amyloidosis, Familial Visceral |
|
Proteinuria, Edema, Cholestasis, Nephropathy, Hepatomegaly, Nephrotic syndrome, Hematuria, Spleno... |
OMIM:105200 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Edema, Anemia, Cholestasis, Intrauterine growth retardation, Hepatomegaly, Perime... |
OMIM:608104 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Inflammatory abnormality of the skin, Stage 5 chronic kidney disease, Chr... |
ORPHA:94059 |
| Medullary cystic kidney disease 2 |
|
Enuresis, Renal tubular atrophy, Gout, Tubulointerstitial nephritis, Stage 5 chronic kidney disea... |
OMIM:603860 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Renal insufficiency, Myoglobinuria |
OMIM:255110 |
| Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma, Hypoalbuminemia |
OMIM:227090 |
| Oligomeganephronia |
|
Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtrati... |
ORPHA:2260 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperleucinemia, Hyperisoleucinemia |
OMIM:620085 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Proteinuria, Glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Growth delay, Hypospadias |
OMIM:619428 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| Congenital Toxoplasmosis |
|
Jaundice, Anemia, Intrauterine growth retardation, Hepatomegaly, Thrombocytopenia, Lymphadenopath... |
ORPHA:858 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Hypophosphatemic ricke... |
OMIM:618913 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Postnatal growth retardation, Elevated circulating creatinine con... |
OMIM:620366 |
| Hereditary Xanthinuria |
|
Recurrent urinary tract infections, Hydronephrosis, Acute kidney injury, Uric acid nephrolithiasi... |
ORPHA:3467 |
| Lessel-Kubisch Syndrome |
|
Renal insufficiency, Short stature, Renal hypoplasia |
OMIM:618681 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia, Edema, Anemia, Hepatomegaly, Growth delay, Iron deficiency anem... |
OMIM:226300 |
| Glycogen Storage Disease Iv |
|
Hepatosplenomegaly, Edema, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, Cirrhosis, Portal hyp... |
OMIM:232500 |
| Tyrosinemia, Type I |
|
Hepatocellular carcinoma, Nephrocalcinosis, Enlarged kidney, Anemia, Elevated circulating alpha-f... |
OMIM:276700 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Nephrotic syndrome, Elevated circulating creatine kinase concentration, Glomerular s... |
OMIM:607426 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Deep dermal perivascular inflammatory infiltrate, Acute kidney injury, Hashimoto ... |
ORPHA:49041 |
| Leishmaniasis |
|
Abnormal macrophage morphology, Leukopenia, Increased circulating antibody level, Anemia, Hepatom... |
ORPHA:507 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Decreased circulating IgA level, Intrauterine growth retardation, Short sta... |
OMIM:617744 |
| Thyrocerebrorenal Syndrome |
|
Nephritis, Renal insufficiency |
ORPHA:3327 |
| Free Sialic Acid Storage Disease |
|
Proteinuria, Hydrops fetalis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Ascites |
ORPHA:834 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Renal tubular atrophy, Leukopenia, Enlarged kidney, Atrial septal defect, Anemia, Bo... |
OMIM:617303 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Uric acid nephrolithiasis, Gout, Hyperuricemia, Hyperuricosuria, Renal insuf... |
ORPHA:411543 |
| Gaucher Disease Type 1 |
|
Delayed puberty, Proteinuria, Leukopenia, Increased circulating antibody level, Biliary tract obs... |
ORPHA:77259 |
| Hemochromatosis, Type 1 |
|
Hepatocellular carcinoma, Testicular atrophy, Cardiomyopathy, Hepatomegaly, Cirrhosis, Increased ... |
OMIM:235200 |
| Cystinuria |
|
Renal insufficiency, Nephrolithiasis, Hematuria, Hyperuricemia |
ORPHA:214 |
| Al Amyloidosis |
|
Abnormality of the kidney, Hepatomegaly, Albuminuria, Abnormal heart morphology, Monoclonal light... |
ORPHA:85443 |
| Griscelli Syndrome |
|
Abnormal circulating lipid concentration, Jaundice, Leukopenia, Abnormality of neutrophils, Bone ... |
ORPHA:381 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypopituitarism, Short stature, Microcytic anemia, Hypertriglyceridemia, Hepa... |
OMIM:619013 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Abnormality of the kidney, Hyperuricemia, Chronic kidney disease, Vesicoureteral ref... |
ORPHA:261222 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Hepatomegaly, Abnormal circulating IgG level, Eosinophilia, Thr... |
OMIM:226990 |
| Denys-Drash Syndrome |
|
Proteinuria, Nephroblastoma, Nephropathy, Nephrotic syndrome |
ORPHA:220 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Renal insufficiency, Hyperalaninemia, Elevated circulating creatine kinase concentr... |
OMIM:619386 |
| Posterior Urethral Valve |
|
Recurrent urinary tract infections, Enuresis nocturna, Unilateral renal dysplasia, Hydronephrosis... |
ORPHA:93110 |
| Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... |
ORPHA:64743 |
| Liver Failure, Infantile, Transient |
|
Jaundice, 3-hydroxydicarboxylic aciduria, Hepatomegaly, Hyperbilirubinemia, Decreased circulating... |
OMIM:613070 |
| Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
| Malaria |
|
Hyperbilirubinemia, Acute kidney injury, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Edema, O... |
OMIM:616000 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, ... |
OMIM:613095 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Jaundice, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, Pe... |
OMIM:251880 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatocellular carcinoma, Delayed puberty, Proteinuria, Abnormality of the kidney, Hepatic fibros... |
ORPHA:369 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Proteinuria, Erysipelas, Renal amyloidosis, Renal insufficiency |
OMIM:134610 |
| Glycogen Storage Disease Ib |
|
Hepatocellular carcinoma, Delayed puberty, Proteinuria, Hyperuricemia, Enlarged kidney, Decreased... |
OMIM:232220 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Renal insufficiency, Hyperuricemia, Abnormal renal insterstitial morphology, Impaired renal conce... |
OMIM:614227 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia |
ORPHA:28 |
| Heme Oxygenase 1 Deficiency |
|
Proteinuria, Elevated circulating C-reactive protein concentration, Hematuria, Growth delay, Incr... |
OMIM:614034 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Cryptorchidism, Anasarca, Polyhydramnios, Hypertriglyceridemia, Renal dysplasia, Elevated circula... |
OMIM:618183 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Hyperammonemia, Edema, Hypertrophic cardiomyopathy, Growth delay, Abnormal renal tubule morpholog... |
OMIM:611719 |
| Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney disease, Perifollic... |
ORPHA:79147 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Reduced natural killer cell co... |
OMIM:241600 |
| Juvenile Nephropathic Cystinosis |
|
Microscopic hematuria, Proteinuria, Hypocalcemic tetany, Hypophosphatemia, Stage 5 chronic kidney... |
ORPHA:411634 |
| Congenital Enterovirus Infection |
|
Myocarditis, Abnormal macrophage morphology, Hyperammonemia, Leukocytosis, Leukopenia, Hydrops fe... |
ORPHA:292 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hydronephrosis, Jaundice, Hyperammonemia, Intrahepatic cholestasis, Duplicated collecting system,... |
OMIM:617093 |
| Schimke Immuno-Osseous Dysplasia |
|
Growth delay, Proteinuria, Intrauterine growth retardation, Lymphopenia, Hyperlipidemia, Thromboc... |
ORPHA:1830 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Edema, Renal cyst, Hepatic fibrosis, Hepatomegaly, Lymphangiectasis, Cirrhosis, Proximal tubulopa... |
OMIM:602579 |
| Muckle-Wells Syndrome |
|
Maculopapular exanthema, Renal amyloidosis, Recurrent aphthous stomatitis, Renal insufficiency, S... |
OMIM:191900 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Renal insufficiency, Multicystic kidney dysplasia, Nephropathy |
ORPHA:1909 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonic stenosis, Hydrops fetalis, Hepatomegaly, Chylopericardium, Growth delay, Pleural effusio... |
ORPHA:2414 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hyperlipidemia, An... |
OMIM:235400 |
| Acquired Partial Lipodystrophy |
|
Microscopic hematuria, Proteinuria, Glomerulopathy |
ORPHA:79087 |
| Papillorenal Syndrome |
|
Absence of renal corticomedullary differentiation, Proteinuria, Stage 5 chronic kidney disease, C... |
OMIM:120330 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins... |
OMIM:143400 |
| Renal Dysplasia |
|
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... |
ORPHA:93108 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Abnormality of the kidney, Polyhydramnios, Abnormal heart morphology, ... |
ORPHA:1041 |
| Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
| Senior-Boichis Syndrome |
|
Cholestasis, Renal corticomedullary cysts, Abnormal renal insterstitial morphology, Hepatosplenom... |
ORPHA:84081 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Jaundice, Abnormal renal physiology, Cholestatic liver disease, Hemophagocytosis, Anemia, Neutrop... |
ORPHA:540 |
| Denys-Drash Syndrome |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Enlarged kidney, Nephropathy, Nephro... |
OMIM:194080 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Growth delay, Hypocholesterolemia, ... |
OMIM:246700 |
| Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Delayed puberty, Proteinuria, Inflammation of the large intestine, Stomatit... |
OMIM:232240 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:615863 |
| Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Reduced renal corti... |
OMIM:617610 |
| Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Glomerulonephritis, Diffuse hepatic steatosi... |
ORPHA:2137 |
| Mulibrey Nanism |
|
Hydrops fetalis, Hepatomegaly, Intrauterine growth retardation, Short stature, Pericardial constr... |
OMIM:253250 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Proteinuria, Hypophosphatemia, Nephrocalcinosis, Glycosuria, Hypouricemia, Short stature, Aminoac... |
OMIM:616026 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Jaundice, Leukopenia, Edema, Hemophagocytosis, Anemia, Hepat... |
OMIM:603553 |
| Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Growth delay, Hyperlysinemia |
OMIM:238750 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Edema, Hepatomegaly, Pericardial effusion, Abnor... |
OMIM:608776 |
| Renal Hypoplasia, Bilateral |
|
Microscopic hematuria, Proteinuria, Glycosuria, Chronic kidney disease, Beta 2-microglobulinuria,... |
ORPHA:97362 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Abnormal renal physiology, Increased blood urea nitrogen, Glomerular sclerosis, Growth delay, Ele... |
OMIM:223900 |
| Bacterial Toxic-Shock Syndrome |
|
Peritonitis, Myocarditis, Recurrent urinary tract infections, Glomerulonephritis, Skin rash, Rena... |
ORPHA:36234 |
| Hypocomplementemic Urticarial Vasculitis |
|
Proteinuria, Glomerulopathy, Angioedema, Renal insufficiency, Hepatomegaly, Abnormal heart valve ... |
ORPHA:36412 |
| Galloway-Mowat Syndrome 3 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Intrauterine growth ret... |
OMIM:617729 |
| Dent Disease 1 |
|
Microscopic hematuria, Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Renal phosphat... |
OMIM:300009 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Jaundice, Leukopenia, Hemophagocytosis,... |
OMIM:267700 |
| Wilson Disease |
|
Hemolytic anemia, Hypouricemia, Hypoparathyroidism, Hepatomegaly, Renal tubular dysfunction, Prot... |
OMIM:277900 |
| Lymphoproliferative Syndrome 2 |
|
Hepatosplenomegaly, Hemophagocytosis, Aplastic anemia, Hepatomegaly, Lymphadenopathy, Pancytopeni... |
OMIM:615122 |
| Liddle Syndrome |
|
Renal insufficiency, Nephropathy, Hypokalemia |
ORPHA:526 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased glomerular filtration rate, Hepatomegaly, Hepatosplenomegaly, Decreased circulating apo... |
ORPHA:85450 |
| Anti-Glomerular Basement Membrane Disease |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Arthritis, Hematuria |
ORPHA:375 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Hepatosplenomegaly, Proteinuria, Cholestatic liver disease, Hemophagocytosis, Hepatic fibrosis, M... |
OMIM:619858 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Hypochloremia, Hyperchloriduria, Hypernatriuria, Decreased glomerular ... |
OMIM:602522 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Microcytic anemia, Hepatic steatosis, Dilated cardiomyopathy, Hypoalb... |
OMIM:618805 |
| Myh9-Related Disease |
|
Nephritis, Renal insufficiency, Proteinuria, Nephropathy |
ORPHA:182050 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Elevated circulating creatinin... |
OMIM:620138 |
| Urofacial Syndrome 2 |
|
Recurrent urinary tract infections, Hydronephrosis, Enuresis, Spastic/hyperactive bladder, Megacy... |
OMIM:615112 |
| Coach Syndrome 3 |
|
Renal interstitial fibrosis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:619113 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatosplenomegaly, Nonimmune hydrops fetalis, Abnormal cardiomyocyte morphology, Polyhydramnios,... |
ORPHA:367 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Hematuria, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:611773 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
| Systemic Sclerosis |
|
Myocarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Acute kidney injury, Chr... |
ORPHA:90291 |
| Citrullinemia Type Ii |
|
Enuresis, Hypoproteinemia, Hepatocellular carcinoma, Acute hyperammonemia, Pancreatitis, Hepatic ... |
ORPHA:247585 |
| Cednik Syndrome |
|
Proteinuria, Short stature, Nephrotic syndrome |
ORPHA:66631 |
| Hinman Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis, Enuresis, Renal insufficiency, Vesicoureteral... |
ORPHA:84085 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatosplenomegaly, Hypoproteinemia, Abnormal renal morphology, Hydronephrosis, Cryptorchidism, M... |
ORPHA:1655 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Jaundice, Cholestasis, Polyhydramnios, Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria, Intraut... |
OMIM:617156 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Abnormality of the hepatic vasculature, Proteinuria, Normocytic anemia, Cardiomyopathy, Nephropat... |
ORPHA:247691 |
| Primary Hyperoxaluria Type 2 |
|
Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, Renal insufficiency, ... |
ORPHA:93599 |
| Alport Syndrome 1, X-Linked |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Thickene... |
OMIM:301050 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise, Growth... |
ORPHA:57 |
| Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Renal insufficiency, Hematuria, Hyperoxaluria |
OMIM:260000 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Acute kidney injury, Chronic kidney disease, Exercise-induced myoglobinuria, Elevated circulating... |
ORPHA:368 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopamine, Eleva... |
ORPHA:276621 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Pulmonic stenosis, Hydrops fetalis, Hepatomegaly, Restrictive cardiomyopathy, Portal vein hypopla... |
OMIM:619433 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hyperammonemia, Pancreatitis, Renal insufficiency, Renal tubular dysfunction, Growth delay |
ORPHA:289916 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
| Trichohepatoenteric Syndrome 1 |
|
Ventricular septal defect, Tetralogy of Fallot, Cholestasis, Hepatomegaly, Increased serum iron, ... |
OMIM:222470 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, Nonimmune hydrops fetalis, Impaired lymphocyte transformation with phyt... |
OMIM:619313 |
| Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Hypoalbuminemia |
ORPHA:1954 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Acrorenal Syndrome |
|
Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia |
ORPHA:971 |
| Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Acute kidney injury, Chronic kidney disease, Enlarged kid... |
ORPHA:85445 |
| Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating alpha-fetoprotein concentration, Urinary bladder sphincter dysfunction, Elev... |
ORPHA:64753 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Anemia, Neutropenia, Hepatomegaly, Hypertriglyceridemia, Hepatitis, Abnormal na... |
ORPHA:158061 |
| Galactosemia |
|
Jaundice, Cryptorchidism, Renal insufficiency, Hypergalactosemia, Increased level of galactitol i... |
ORPHA:352 |
| Gracile Bone Dysplasia |
|
Hypoplastic spleen, Micropenis, Asplenia, Short stature, Hypocalcemia, Ascites |
OMIM:602361 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Dehydration, Edema, Abnormal circulating protein concentration, Abnormal circulating polysacchari... |
ORPHA:103910 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Increased circulating antibody level, Anemia, Nep... |
ORPHA:100024 |
| Cirrhotic Cardiomyopathy |
|
Jaundice, Left atrial enlargement, Left ventricular hypertrophy, Abnormal B-type natriuretic pept... |
ORPHA:57777 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Nephropathy, Short stature, Nephrotic syndrome |
ORPHA:1192 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, C... |
OMIM:602347 |
| Granulomatous Slack Skin |
|
Acute kidney injury, Nephrocalcinosis, Hypercalcemia |
ORPHA:33111 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Nonimmune hydrops fetalis, Hydronephrosis, Cryptorchidism, Vesicoureteral reflux, Ventricular sep... |
OMIM:235510 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R... |
ORPHA:93109 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hydronephrosis, Cryptorchidism, Micropenis, Ventricular septal defect, Polyhydra... |
OMIM:235255 |
| Fanconi-Bickel Syndrome |
|
Proteinuria, Hypophosphatemia, Glycosuria, Beta 2-microglobulinuria, Hypouricemia, Hypergalactose... |
OMIM:227810 |
| Hypomagnesemia 2, Renal |
|
Renal magnesium wasting, Renal insufficiency, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Mucopolysacchariduria, Proteinuria, Decreased circulating IgA level, Short stature, Nephrotic syn... |
OMIM:215250 |
| Eosinophilic Gastroenteritis |
|
Leukocytosis, Edema, Anemia, Eosinophilia, Elevated circulating C-reactive protein concentration,... |
ORPHA:2070 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Superficial dermal perivascular inflammatory infiltrate, Predominantly dermal neutrophilic infilt... |
ORPHA:284426 |
| Schimke Immunoosseous Dysplasia |
|
Proteinuria, Abnormal immunoglobulin level, Stage 5 chronic kidney disease, Anemia, Renal insuffi... |
OMIM:242900 |
| Pediatric Systemic Lupus Erythematosus |
|
Proteinuria, Leukopenia, Edema, Microangiopathic hemolytic anemia, Nephritis, Renal insufficiency... |
ORPHA:93552 |
| Familial Atrial Myxoma |
|
Jaundice, Bacterial endocarditis, Pulmonic valve myxoma, Cholestasis, Cardiac myxoma, Cardiomegal... |
ORPHA:615 |
| Senior-Loken Syndrome |
|
Short stature, Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney disease |
ORPHA:3156 |
| Genetic Recurrent Myoglobinuria |
|
Recurrent myoglobinuria, Acute kidney injury, Exercise-induced myoglobinuria, Renal insufficiency... |
ORPHA:99845 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Jaundice, Cholestatic liver disease, Nephrocalcinosis, Glycosuria, Ventricular septa... |
OMIM:613404 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Renal phosphate wasting, Renal insuff... |
OMIM:300554 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Nephrocalcinosis, Renal insufficiency, Hypercalciuria, Hyperphosphaturia, Hyper... |
ORPHA:99879 |
| Multiple Myeloma |
|
Increased circulating IgA level, Acute kidney injury, Anemia, Hyperproteinemia, Nephropathy, Neph... |
ORPHA:29073 |
| Cystinosis |
|
Delayed puberty, Proteinuria, Hypophosphatemia, Renal insufficiency, Nephropathy, Short stature, ... |
ORPHA:213 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Nonimmune hydrops fetalis, Proteinuria, Edema, Renal cyst, Cardiomyopathy, Hepatic fibrosis, Hepa... |
OMIM:212065 |
| Renal Cysts And Diabetes Syndrome |
|
Abnormal renal morphology, Proteinuria, Abnormality of the kidney, Multiple glomerular cysts, Sta... |
OMIM:137920 |
| Primary Fanconi Renotubular Syndrome |
|
Proximal renal tubular acidosis, Hypophosphatemia, Stage 5 chronic kidney disease, Chronic kidney... |
ORPHA:3337 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Jaundice, Cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Increased total... |
OMIM:618528 |
| Systemic Lupus Erythematosus |
|
Malar rash, Lupus nephritis, Arthritis, Nephritis, Pericarditis |
OMIM:152700 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Nonimmune hydrops fetalis, Jaundice, Hyperammonemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:617049 |
| 46,Xy Sex Reversal 4 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Increased blood urea nitrogen, Renal dysplasi... |
OMIM:154230 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Nephronophthisis, Glomerular subepithelial immune-complex deposits, St... |
OMIM:616307 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hydronephrosis, Micropenis, Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Intrauter... |
OMIM:616897 |
| Avian Influenza |
|
Acute kidney injury, Elevated circulating creatine kinase concentration, Hepatitis, Infectious en... |
ORPHA:454836 |
| Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney ... |
OMIM:609583 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cryptorchidism, Atrial septal defect, Anemia, Intrauterine growth retardation, Perimembranous ven... |
OMIM:620135 |
| Klippel-Trénaunay Syndrome |
|
Edema, Hydrops fetalis, Atrial septal defect, Hepatomegaly, Microcytic anemia, Abnormal tricuspid... |
ORPHA:90308 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Increased circulating antibody level, Edema, Facial edema, Hyperlipidemia, Incre... |
ORPHA:86816 |
| Amyloidosis, Finnish Type |
|
Renal insufficiency, Nephrotic syndrome |
OMIM:105120 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Caroli Disease |
|
Cholangitis, Polycystic kidney dysplasia, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cho... |
ORPHA:53035 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Hypocitraturia, Nephrocalcinosis, Chronic kidney disease, Ren... |
OMIM:248250 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Proteinuria, Mesomelic short stature, Nephropathy, Intrauterine growth retardation, Short stature... |
ORPHA:1765 |
| Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Renal insufficiency, Intrauterine growth retardation, Short stature, Hypokalemi... |
ORPHA:320 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Heparan sulfate excretion in urine, Proteinuria, Leukopenia, Enlarged kidney,... |
ORPHA:505248 |
| Sclerosing Cholangitis, Neonatal |
|
Ductal bile plugs, Jaundice, Cholestasis, Acholic stools, Bile duct proliferation, Hepatic bridgi... |
OMIM:617394 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613824 |
| Nephronophthisis 16 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Renal insufficiency... |
OMIM:615382 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Bilateral renal atrophy |
OMIM:166300 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczematoid dermatitis, Inflammatory abnormality of the skin, Colitis, Gastritis, Crusting erythem... |
ORPHA:37042 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Severe short stature, Hypoalbuminemia |
OMIM:610965 |
| Relapsing Fever |
|
Acute kidney injury, Increased total bilirubin, Hematuria, Elevated circulating C-reactive protei... |
ORPHA:91547 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Glomerulonephritis, Pyelonephritis, Renal insufficiency, Recu... |
OMIM:610984 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Ascites |
ORPHA:2198 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating total IgM, Chylous ascites, Anasarca, Edema, Intestinal lymphedema, Decreas... |
ORPHA:90363 |
| Nephronophthisis 3 |
|
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Renal corti... |
OMIM:604387 |
| Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Renal hypoplasia |
OMIM:615996 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:256100 |
| Megabladder, Congenital |
|
Hyperechogenic kidneys, Fetal megacystis, Multiple glomerular cysts, Stage 5 chronic kidney disease |
OMIM:618719 |
| Galloway-Mowat Syndrome 1 |
|
Proteinuria, Diffuse mesangial sclerosis, Renal insufficiency, Intrauterine growth retardation, S... |
OMIM:251300 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Renal cell carcinoma, Elevated urinary epinephrine, Glomerular sclerosis, Elevated u... |
ORPHA:29072 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
| Mpi-Cdg |
|
Edema, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Hypoalbuminemia |
ORPHA:79319 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Acute kidney injury, Leukocytosis, Anemia, Congenital thrombocytopenia, Lymphadeniti... |
OMIM:618886 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Gout, Decreased glomerular filtratio... |
OMIM:618061 |
| Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency |
ORPHA:254857 |
| Alagille Syndrome 2 |
|
Proteinuria, Renal cyst, Renal insufficiency, Hematuria, Renal tubular acidosis, Renal hypoplasia |
OMIM:610205 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hepatocellular carcinoma, Abnormal circulating homocysteine concentration, Hydrops fetalis, Abnor... |
ORPHA:88618 |
| Coach Syndrome 2 |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
| Niemann-Pick Disease, Type A |
|
Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Short stature, Sea-blue histio... |
OMIM:257200 |
| Chylous Ascites |
|
Pancreatitis, Lymphedema, Ascites |
ORPHA:1160 |
| Cirrhosis, Familial |
|
Jaundice, Fulminant hepatitis, Increased level of L-fucose in urine, Cirrhosis, Micronodular cirr... |
OMIM:215600 |
| Becker Muscular Dystrophy |
|
Abnormal urinary color, Elevated circulating creatine kinase concentration, Myoglobinuria |
ORPHA:98895 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Short stature, Increased serum bile acid concentratio... |
OMIM:242150 |
| Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Jaundice, Abnormality of the liver, Hypoalbuminemia |
ORPHA:79320 |
| Lysinuric Protein Intolerance |
|
Oroticaciduria, Decreased glomerular filtration rate, Hyperlysinuria, Hemophagocytosis, Hyperalan... |
ORPHA:470 |
| Wolman Disease |
|
Anemia, Bone-marrow foam cells, Hepatomegaly, Growth delay, Splenomegaly, Ascites |
ORPHA:75233 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Microscopic hematuria, Proteinuria, Abnormal renal physiology, Stage 5 chronic kidney disease, Re... |
OMIM:308940 |
| Nephronophthisis 18 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened gl... |
OMIM:615862 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hydrops fetalis, Polyhydramnios, Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
| Retinitis Pigmentosa 59 |
|
Renal insufficiency, Intrauterine growth retardation, Micropenis |
OMIM:613861 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Rhinitis, Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Elevated circulatin... |
ORPHA:230 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Proteinuria, Renal tubular atrophy, Decreased glomerular filtration rate, Renal insufficiency, Ne... |
OMIM:614748 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Nonimmune hydrops fetalis, Chylous ascites, Edema, Polyhydramnios, Facial edema, Palpebral edema,... |
OMIM:265300 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Myoglobinuria, Hyperkalemia |
OMIM:145600 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Postnatal growth retardation, Hypercholestero... |
OMIM:232700 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatocellular carcinoma, Hepatomegaly, Portal hypertension, Thrombocytopenia, Nodular regenerati... |
OMIM:619463 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Proteinuria, Acute kidney injury, Reduced haptoglobin level, Glycosuria, Chronic kidney disease, ... |
ORPHA:447 |
| Orthostatic Hypotension 1 |
|
Nocturia, Increased blood urea nitrogen, Hypomagnesemia |
OMIM:223360 |
| Glycogen Storage Disease Vii |
|
Gout, Hyperuricemia, Exercise-induced myoglobinuria, Elevated circulating creatine kinase concent... |
OMIM:232800 |
| Liddle Syndrome 1 |
|
Decreased circulating renin level, Renal insufficiency, Hypokalemia |
OMIM:177200 |
| Carnitine Deficiency, Systemic Primary |
|
Dehydration, Hyperammonemia, Decreased carnitine level in liver, Cardiomyopathy, Hepatomegaly, El... |
OMIM:212140 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Renal insufficiency, Myoglobinuria |
ORPHA:713 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Ma... |
ORPHA:398063 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polycystic kidney dysplasia, Enlarged kidney, Hepatomegaly, Elevated circulating creatine kinase ... |
OMIM:608836 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Atrial septal defect, Anemia, Fa... |
OMIM:617300 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Neutropenia, P... |
ORPHA:98850 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Hydronephrosis, Renal duplication, Elevated circulating creatine kinase concentration, Renal dysp... |
ORPHA:158684 |
| Papa Syndrome |
|
Proteinuria, Increased inflammatory response, Pustule, Arthritis, Acne, Crohn's disease, Myositis |
ORPHA:69126 |
| Thyrocerebroretinal Syndrome |
|
Nephritis |
OMIM:274240 |
| Lymphatic Malformation 6 |
|
Nonimmune hydrops fetalis, Generalized edema, Edema, Atrial septal defect, Polyhydramnios, Perior... |
OMIM:616843 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Highly elevated creatine kinase, Exercise-induced myoglobinuria |
ORPHA:352479 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Hypernatremia, Hydroureter, Renal insufficiency, Functional abnormality of the... |
ORPHA:223 |
| Birk-Landau-Perez Syndrome |
|
Tubulointerstitial nephritis, Increased circulating creatine kinase MB isoform, Renal insufficien... |
OMIM:617595 |
| Acquired Ichthyosis |
|
Recurrent skin infections, Renal insufficiency |
ORPHA:454 |
| Plasminogen Deficiency, Type I |
|
Nephrolithiasis, Periodontitis, Decreased level of plasminogen, Nephritis, Conjunctivitis |
OMIM:217090 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Renal cortical microcysts, Hydronephrosis, Albuminuria, Elevated circulating long chain fatty aci... |
OMIM:214100 |
| Alg12-Cdg |
|
Cryptorchidism, Micropenis, Edema, Partial absence of specific antibody response to Haemophilus i... |
ORPHA:79324 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hyperammonemia, Transient hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase conc... |
OMIM:255120 |
| Hennekam Syndrome |
|
Hydrops fetalis, Horseshoe kidney, Ectopic kidney, Pulmonary lymphangiectasia, Lymphangioma, Lymp... |
ORPHA:2136 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Nephrocalcinosis, Chronic kidney disease, Renal magnesium was... |
OMIM:248190 |
| Cockayne Syndrome Type 1 |
|
Proteinuria, Renal insufficiency, Uveitis, Increased blood urea nitrogen, Postnatal growth retard... |
ORPHA:90321 |
| Diffuse Alveolar Hemorrhage |
|
Proteinuria, Hematuria, Elevated circulating creatinine concentration |
ORPHA:90060 |
| Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
| Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Abnormal renal corticomedullary differentiation, Hepatomegaly, Thr... |
OMIM:617397 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Elevated circulating creatine kinase concentration, Myoglobinuria |
ORPHA:119 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration |
OMIM:616239 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Renal dysplasia, Nephritis, Unilateral renal atrophy, Pyelonephritis |
OMIM:314300 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Hepatosplenomegaly, Recurrent urinary ... |
ORPHA:731 |
| Tempi Syndrome |
|
Abnormality of the kidney, Polycythemia, Transudative pleural effusion, Increased circulating IgG... |
ORPHA:284227 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, Decreased proportion of memory B cells, Jaundice, Urinary retention, Abnormal... |
ORPHA:79124 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hyperammonemia, Exercise-induced myoglobinuria, Hepatomegaly, Elevated circulating creatine kinas... |
OMIM:201475 |
| Nephrolithiasis, Calcium Oxalate, 1 |
|
Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox... |
OMIM:167030 |
| Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophth... |
OMIM:606966 |
| Ochoa Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis, Urinary incontinence, Renal insufficiency, Ur... |
ORPHA:2704 |
| Alstrom Syndrome |
|
Hyperuricemia, Tubulointerstitial nephritis, Chronic active hepatitis, Renal insufficiency, Short... |
OMIM:203800 |
| Jeune Syndrome |
|
Short stature, Renal insufficiency, Nephropathy, Nephronophthisis |
ORPHA:474 |
| Sickle Cell Anemia |
|
Leukocytosis, Reticulocytosis, Hemolytic anemia, Pigment gallstones, Cholestasis, Hypochromic ane... |
ORPHA:232 |
| Hyperprolinemia Type 2 |
|
Hyperglycinemia, Renal insufficiency, Hyperalaninemia, Hydroxyprolinuria, Prolinuria, Hyperprolin... |
ORPHA:79101 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Postnatal growth retardation, Hypocalcemia |
OMIM:615361 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Rhizomelia, Unilateral renal agenesis, Short stature, Renal hypoplasia |
OMIM:617661 |
| Pseudomyxoma Peritonei |
|
Abnormality of the peritoneum, Lymphadenopathy, Ascites |
ORPHA:26790 |
| Alg8-Cdg |
|
Edema, Hydrops fetalis, Anemia, Intrauterine growth retardation, Thrombocytopenia, Oligohydramnio... |
ORPHA:79325 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Polycystic kidney dysplasia, Hyperammonemia, Decreased plasma free carnitine, Tubulointerstitial ... |
ORPHA:228308 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Decreased urine output, Skin rash, Hyperbilirubinemia, Increased inflammator... |
ORPHA:542323 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Enuresis, Glycosuria, Nephropathy, Renal tubular dysfunction,... |
ORPHA:69076 |
| Glycogen Storage Disease Ixd |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:300559 |
| Laurence-Moon Syndrome |
|
Renal insufficiency, Displacement of the urethral meatus, Short stature, Hypoplasia of penis |
ORPHA:2377 |
| Primary Biliary Cholangitis |
|
Increased circulating IgA level, Hepatocellular carcinoma, Abnormal circulating lipid concentrati... |
ORPHA:186 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proximal renal tubular acidosis, Proteinuria, Unilateral renal dysplasia, Nephrocalcinosis, Chron... |
OMIM:146255 |
| Immunodeficiency 91 And Hyperinflammation |
|
Maculopapular exanthema, Hemolytic-uremic syndrome, Renal insufficiency, Nephrotic syndrome, Recu... |
OMIM:619644 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Intrauterine growth retardation, Aminoaciduri... |
OMIM:619055 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Renal insufficiency, Hyperammonemia |
ORPHA:79312 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:208920 |
| Desmoplastic Small Round Cell Tumor |
|
Abnormality of the peritoneum, Anemia, Neoplasm of the pancreas, Hepatomegaly, Lymphadenopathy, M... |
ORPHA:83469 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Stage 5 chronic kidney disease, Ureteropelvic junction obstruction, Unilateral renal agenesis, Ve... |
OMIM:610805 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Liver abscess, Anemia, Pleural empyema, Abnormal pericardium morphology, Pleural ef... |
ORPHA:67 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Leukocytosis, Reticulocytosis, Heinz ... |
OMIM:300908 |
