| Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... |
OMIM:618594 |
| Nephrotic Syndrome, Type 4 |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... |
OMIM:256370 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ... |
OMIM:615573 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... |
OMIM:617609 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... |
OMIM:614131 |
| Nephrotic Syndrome, Type 12 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616892 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem... |
OMIM:600995 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid... |
OMIM:615008 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren... |
ORPHA:54370 |
| Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... |
OMIM:161900 |
| Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:618176 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:614650 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c... |
OMIM:614196 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... |
OMIM:610725 |
| Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... |
OMIM:619201 |
| Mesangial sclerosis, diffuse renal, with ocular abnormalities |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency |
OMIM:249660 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:301028 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:616032 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ... |
OMIM:614817 |
| Lipoprotein Glomerulopathy |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
| Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... |
OMIM:603965 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... |
ORPHA:84090 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
| Nephrotic Syndrome, Type 24 |
|
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... |
OMIM:619263 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... |
ORPHA:567544 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Ascites, Stage 5 chr... |
OMIM:603278 |
| Hyperprolinemia Type 1 |
|
Hyperprolinemia, Nephropathy, Prolinuria, Proteinuria |
ORPHA:419 |
| Alport Syndrome 3B, Autosomal Recessive |
|
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... |
OMIM:620536 |
| Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... |
OMIM:620049 |
| Nephrotic Syndrome, Type 22 |
|
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... |
OMIM:619155 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... |
OMIM:601894 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency |
OMIM:607832 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... |
OMIM:613237 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, P... |
OMIM:618349 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:613944 |
| Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:616893 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
| Proteinuria, Chronic Benign |
|
Proteinuria, Albuminuria, Renal insufficiency |
OMIM:618884 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid... |
ORPHA:567548 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... |
OMIM:137950 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia, Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidne... |
OMIM:615244 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Nephropathy, Elevated circulating cre... |
OMIM:617056 |
| Nail-Patella-Like Renal Disease |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Short stature, Microscopic hematuria |
ORPHA:2613 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia, Proteinuria, Nephrotic syndrome |
OMIM:614652 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Growth delay, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndrome... |
OMIM:256300 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Chronic k... |
ORPHA:656 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormal circ... |
ORPHA:2843 |
| Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
| Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... |
OMIM:614455 |
| C3 Glomerulopathy 3 |
|
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... |
OMIM:614809 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:614199 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... |
OMIM:614377 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Hyperuri... |
OMIM:162000 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ... |
ORPHA:94088 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, IgA depos... |
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, 1 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:161950 |
| Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... |
OMIM:616818 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... |
OMIM:612925 |
| Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate,... |
OMIM:242530 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... |
OMIM:220150 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... |
OMIM:619468 |
| Nephrotic Syndrome, Type 10 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... |
OMIM:615861 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... |
ORPHA:329918 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... |
OMIM:174000 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... |
OMIM:615605 |
| Polycystic Kidney Disease 7 |
|
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... |
OMIM:620056 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612926 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612924 |
| Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
| Xanthinuria, Type Ii |
|
Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le... |
OMIM:603592 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Intrauterine growth retardation, Proteinuria... |
OMIM:618347 |
| Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Decreased circulating IgG level, Elevated haptoglobin level, Intestinal lymphang... |
OMIM:620632 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... |
OMIM:614723 |
| Hematuria, Benign Familial, 2 |
|
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria |
OMIM:620320 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits |
ORPHA:69063 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria, Severe short stature |
ORPHA:2820 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... |
OMIM:220100 |
| Oculorenocerebellar Syndrome |
|
Nephropathy, Glomerular sclerosis |
OMIM:257970 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a... |
OMIM:619868 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Intrauterine growth retard... |
OMIM:301006 |
| Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Proteinuria, Ab... |
OMIM:123550 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Abnormal renal tubule... |
ORPHA:839 |
| Reni Syndrome |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ... |
OMIM:617575 |
| Galloway-Mowat Syndrome 4 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... |
OMIM:617730 |
| Alpha-Heavy Chain Disease |
|
Ascites, Splenomegaly, Hypocalcemia, Hepatomegaly, Dysgammaglobulinemia, Lymphadenopathy, Anemia,... |
ORPHA:100025 |
| Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:160010 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Proteinuria, Hematuria, Membranoproliferative glomerulo... |
OMIM:608709 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mesangial hypercellularity |
OMIM:620425 |
| Galloway-Mowat Syndrome 10 |
|
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... |
OMIM:619609 |
| Nephrosialidosis |
|
Nephropathy, Ascites, Renal insufficiency, Pericardial effusion, Nephrotic syndrome, Bone-marrow ... |
OMIM:256150 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... |
OMIM:601331 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Colitis, Nephro... |
OMIM:617006 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinur... |
OMIM:620010 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
| Glycogen Storage Disease Xi |
|
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
| Galactosemia I |
|
Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Increased level of... |
OMIM:230400 |
| Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... |
ORPHA:79233 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... |
OMIM:104200 |
| Dent Disease 2 |
|
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... |
OMIM:300555 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri... |
ORPHA:411536 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:136680 |
| Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... |
OMIM:618348 |
| Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... |
OMIM:617731 |
| Complement Factor H Deficiency |
|
Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel... |
OMIM:609814 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria, Intrauterine growth retardation |
OMIM:189800 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... |
OMIM:611555 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glome... |
ORPHA:567546 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... |
ORPHA:228302 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Ascites, Renal insufficiency, Hepatomegaly, Jaundice |
ORPHA:890 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Proteinuria, Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Renal cyst, Polycystic liver disease, Increased total bilirubin |
OMIM:174050 |
| Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... |
OMIM:271500 |
| Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul... |
ORPHA:93126 |
| Bardet-Biedl Syndrome 18 |
|
Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:615995 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Ascites, Abnormality of the ureter, Oligohydramnios, Polyhydramnios, Splenomegaly, Renal hypoplas... |
ORPHA:1046 |
| Lesch-Nyhan Syndrome |
|
Hematuria, Gout, Renal insufficiency, Hyperuricemia |
ORPHA:510 |
| Neuraminidase Deficiency |
|
Facial edema, Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Ascites, Increase... |
OMIM:256550 |
| Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Hy... |
OMIM:269920 |
| Nephronophthisis 20 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... |
OMIM:617271 |
| Imerslund-Grasbeck Syndrome 2 |
|
Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Growt... |
OMIM:618882 |
| Lcat Deficiency |
|
Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glomerular filtration rat... |
ORPHA:650 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... |
ORPHA:2364 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
| Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
| Diffuse Neonatal Hemangiomatosis |
|
Ascites, Renal insufficiency, Polyhydramnios, Renal hypoplasia/aplasia, Hepatomegaly, Thrombocyto... |
ORPHA:2123 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Proteinuria, Glomerulopathy, Hypercalcemia, Renal insufficiency |
ORPHA:2668 |
| Bardet-Biedl Syndrome 14 |
|
Renal insufficiency |
OMIM:615991 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha... |
OMIM:308240 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia, Hyponatremia, Prot... |
OMIM:613845 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph... |
OMIM:613779 |
| Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Acute kidney injury |
ORPHA:2134 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Rhizomelia, Elevated circulating creatinine concentration, Stage 5 chronic kidn... |
OMIM:614376 |
| Fetal Parvovirus Syndrome |
|
Ascites, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Increased nuchal transluce... |
ORPHA:295 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Decreased serum creatinine |
ORPHA:54057 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Postnatal growth retardation, Intrauterine growth ... |
OMIM:616733 |
| Dent Disease |
|
Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul... |
ORPHA:1652 |
| Xanthinuria, Type I |
|
Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Hyperxanthin... |
OMIM:278300 |
| Alport Syndrome 2, Autosomal Recessive |
|
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... |
OMIM:203780 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency |
OMIM:615987 |
| Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Intra... |
ORPHA:275555 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Renal insufficiency, Abnormal circulating acylcarnitine concentration, Elevated circulating creat... |
OMIM:620235 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Lymphopenia, Hypoproteinemia, Ascites, Pleural effusion, Hypocalcemia, Decre... |
ORPHA:90362 |
| Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
| Renal Tubular Acidosis, Distal, 1 |
|
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H... |
OMIM:179800 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... |
OMIM:602088 |
| Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly,... |
OMIM:209950 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Micronodular cirrhosis, Ascites, Hepatic steatosis, Decreased proportion of CD4-positive T cells,... |
OMIM:301045 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Recurrent otitis media, Stage 5 chronic kidney disease, Renal insufficiency, Rena... |
OMIM:615993 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... |
OMIM:266900 |
| Alport Syndrome |
|
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... |
ORPHA:63 |
| Aapoaiv Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli... |
ORPHA:439232 |
| Alg1-Cdg |
|
Hypoalbuminemia, Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney |
ORPHA:79327 |
| Renal Tubular Acidosis, Proximal |
|
Short stature, Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubu... |
OMIM:179830 |
| Aicardi-Goutieres Syndrome 9 |
|
Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Glomerular scleros... |
OMIM:619487 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Glycogen Storage Disease Iv |
|
Cardiomyopathy, Ascites, Abnormal circulating creatine kinase concentration, Hepatosplenomegaly, ... |
OMIM:232500 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... |
ORPHA:449395 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... |
OMIM:609057 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... |
OMIM:616050 |
| Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sidero... |
OMIM:617021 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e... |
OMIM:614702 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuri... |
OMIM:254900 |
| Sialidosis Type 2 |
|
Nephropathy, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis, Short stature, Pedal edema |
ORPHA:87876 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased urinary glycerol, Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubine... |
ORPHA:247598 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Chronic kidney disease, Growth delay, Exocrine pancreatic insufficiency, Ascites... |
ORPHA:1667 |
| Drug-Induced Lupus Erythematosus |
|
Malar rash, Elevated circulating creatine kinase concentration, Hematuria, Increased blood urea n... |
ORPHA:231111 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure... |
OMIM:300539 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... |
ORPHA:347 |
| Galloway-Mowat Syndrome 9 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis |
OMIM:619603 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... |
ORPHA:93101 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... |
OMIM:613388 |
| Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Renal amyloidosis, Skin rash, Proteinuria, Hematuria, Nephrotic syndrome |
OMIM:105200 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ... |
OMIM:274150 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... |
OMIM:134600 |
| Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis |
OMIM:611498 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia |
OMIM:620085 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Proteinuria, Delayed puberty, Increased blood urea nitrogen, Membranoproliferative glomerulonephr... |
ORPHA:251004 |
| Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232600 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Cholestasis, Elevated circulating creatinine concentration, Intrauterine growth ... |
OMIM:608104 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Gout, H... |
OMIM:232200 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Cardiomyopathy, Increased circulating creatine kinase MM iso... |
OMIM:613752 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Growth delay, Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias |
OMIM:619428 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Inflammatory abnormality of the ... |
ORPHA:94059 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Growth delay, Hypocystinemia, Decreased circulating IgA level, Intrauterine ... |
OMIM:617744 |
| Medullary cystic kidney disease 2 |
|
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Hyperuricem... |
OMIM:603860 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... |
ORPHA:2260 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia, Congenital exfoliative erythroderma |
OMIM:227090 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis, Increased blood u... |
OMIM:617872 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... |
OMIM:618913 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypertrophic cardio... |
OMIM:276700 |
| Congenital Toxoplasmosis |
|
Ascites, Intrauterine growth retardation, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocyt... |
ORPHA:858 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Ascites, Hypocholesterolemia, Splenomegaly, Atrial septal defect, Hepatomegaly, ... |
OMIM:608776 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Generalized edema, Growth delay, Intestinal lymphangiectasia, Ascites, Hepatomeg... |
OMIM:226300 |
| Hereditary Xanthinuria |
|
Hypouricemia, Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urina... |
ORPHA:3467 |
| Hyperlysinuria With Hyperammonemia |
|
Hyperlysinuria, Hyperammonemia, Hyperlysinemia, Dibasicaminoaciduria, Growth delay |
OMIM:238750 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Hypopituitarism, Microcytic anemia, Hepatosplenomegaly, Oligohydramnios, Hepatic... |
OMIM:619013 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Post... |
OMIM:620366 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Acute kidney injury, Hyperbilirubinemia |
ORPHA:673 |
| Lessel-Kubisch Syndrome |
|
Short stature, Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Acute kidney injury, Rheumatoid arthritis, Elevated circulating creatinine concentration, Unilate... |
ORPHA:49041 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration, Proteinur... |
OMIM:607426 |
| Leishmaniasis |
|
Hypoalbuminemia, Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Increase... |
ORPHA:507 |
| Cystinuria |
|
Hematuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis |
ORPHA:214 |
| Al Amyloidosis |
|
Xerostomia, Abnormal cardiac atrium morphology, Increased circulating antibody level, Abnormality... |
ORPHA:85443 |
| Free Sialic Acid Storage Disease |
|
Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrome, Hydrops fetalis |
ORPHA:834 |
| Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop... |
ORPHA:381 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Renal insufficiency, Gout, Hyperuricemia, Hyperuricosuria, Arthritis, Uric a... |
ORPHA:411543 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... |
ORPHA:64743 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Decreased circulating IgG level, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hy... |
OMIM:613070 |
| Tafro Syndrome |
|
Anasarca, Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal insufficiency, Pleural e... |
ORPHA:457077 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... |
OMIM:613095 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hyperglycinemia, Hyperamylasemia, Renal insufficiency, Elevated circulating creati... |
OMIM:619386 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Bone marrow hypocellularity, Focal segmental glomerulosclerosis, Nephritis, Hype... |
OMIM:617303 |
| Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Oligohydramnios, Elevated circulating t... |
OMIM:616000 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:235200 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Hyperuricemia, Proteinuria, Abnorm... |
ORPHA:261222 |
| Gaucher Disease Type 1 |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibody level, Hematuria,... |
ORPHA:77259 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepatome... |
OMIM:226990 |
| Posterior Urethral Valve |
|
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... |
ORPHA:93110 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Growth delay, Hypertrophic cardiomyopathy, Hyperlipidemia, Inc... |
ORPHA:369 |
| Congenital Pulmonary Lymphangiectasia |
|
Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Hydrops fetalis, Growth delay, Chyloperica... |
ORPHA:2414 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia |
ORPHA:28 |
| Thyrocerebrorenal Syndrome |
|
Nephritis, Renal insufficiency |
ORPHA:3327 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mild proteinuria |
OMIM:301108 |
| Denys-Drash Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma |
ORPHA:220 |
| Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating abilit... |
OMIM:614227 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... |
ORPHA:84081 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Generalized aminoa... |
OMIM:251880 |
| Autoimmune Hepatitis |
|
Viral hepatitis, Increased total bilirubin, Ascites, Splenomegaly, Sclerosing cholangitis, Increa... |
ORPHA:2137 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy, Ascites, Hyperammonemia, Abnormal renal tubule morphology, Growth de... |
OMIM:611719 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis |
OMIM:134610 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Splenom... |
OMIM:232220 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Postnatal growth retardation, Intrau... |
OMIM:617093 |
| Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Chronic kidney disease, Intrauterine growth retardation, Renal tubular acidosis, 3-Methylglutacon... |
ORPHA:324525 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Abnormal lymphocyte physiology, Disp... |
ORPHA:1830 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath... |
ORPHA:411634 |
| Heme Oxygenase 1 Deficiency |
|
Nephritis, Increased circulating ferritin concentration, Hematuria, Proteinuria, Elevated circula... |
OMIM:614034 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency |
ORPHA:1909 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Hepatic fibrosis, Proximal tubulopathy, Renal cyst, Cirrhosis, Lymphangiectasis,... |
OMIM:602579 |
| Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... |
OMIM:232240 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... |
OMIM:235400 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... |
OMIM:143400 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... |
OMIM:223900 |
| Muckle-Wells Syndrome |
|
Renal amyloidosis, Recurrent aphthous stomatitis, Renal insufficiency, Elevated circulating C-rea... |
OMIM:191900 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... |
OMIM:120330 |
| Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Abnormal heart valve morphology, Ascites, Renal insufficiency, Splenomegaly, Pleural ... |
ORPHA:36412 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Anasarca, Hypomagnesemia, Ascites, Pleural effusion, Hypocalcemia, Cryptorchidis... |
OMIM:618183 |
| Acquired Partial Lipodystrophy |
|
Proteinuria, Glomerulopathy, Microscopic hematuria |
ORPHA:79087 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Fetal ascites, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis,... |
ORPHA:292 |
| Hydrops Fetalis |
|
Generalized edema, Abnormality of the urinary system, Lymphedema, Abnormal heart morphology, Asci... |
ORPHA:1041 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Cholestatic liver disease, Hemophagocytosis, Increased circulating ferritin conc... |
ORPHA:540 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Generalized edema, Hemophagocytosis, Increased circulating ferritin concentratio... |
OMIM:267700 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Generalized edema, Hemophagocytosis, Increased total bilirubin, Increased circul... |
OMIM:603553 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... |
OMIM:241600 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... |
OMIM:194080 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria, Hypoph... |
OMIM:616026 |
| Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Hyperammonemia, Aminoaciduria, Episodic ammonia intoxication |
ORPHA:147 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... |
OMIM:617610 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... |
OMIM:246700 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Intrauterine growth retardation, Stage 5 chronic kidney disease, Proteinuria, Di... |
OMIM:617729 |
| Mulibrey Nanism |
|
Growth delay, Ascites, Intrauterine growth retardation, Nephroblastoma, Cardiomegaly, Pericardial... |
OMIM:253250 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Beta 2-microglobulinuria, Glyco... |
ORPHA:97362 |
| Anti-Glomerular Basement Membrane Disease |
|
Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis |
ORPHA:375 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Renal insufficiency, Hypocalcemia, Palmoplantar pustulosis, Hyponatremia, Pustul... |
ORPHA:247353 |
| Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Asc... |
OMIM:615122 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp... |
ORPHA:85450 |
| Dent Disease 1 |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... |
OMIM:300009 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Pneumonia, Hepatitis, Recurrent urinary tract infections, Fasciitis, Elevated ci... |
ORPHA:36234 |
| Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
| Liddle Syndrome |
|
Hypokalemia, Nephropathy, Renal insufficiency |
ORPHA:526 |
| Myh9-Related Disease |
|
Nephropathy, Nephritis, Renal insufficiency, Proteinuria |
ORPHA:182050 |
| Familial Renal Glucosuria |
|
Nephropathy, Moderate postnatal growth retardation, Glycosuria, Recurrent urinary tract infection... |
ORPHA:69076 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, ... |
OMIM:619858 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Enuresis, Decreased HDL cholesterol concentration, Delayed men... |
ORPHA:247585 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal cyst, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:611773 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... |
OMIM:620138 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... |
OMIM:602522 |
| Coach Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... |
OMIM:619113 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Cholestasis, Ascites, Intrauterine growth retardation, Hyper... |
OMIM:617156 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Hepa... |
OMIM:618805 |
| Urofacial Syndrome 2 |
|
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... |
OMIM:615112 |
| Hyperoxaluria, Primary, Type Ii |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis |
OMIM:260000 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculat... |
ORPHA:247691 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... |
ORPHA:276621 |
| Hinman Syndrome |
|
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... |
ORPHA:84085 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Dilated cardiomyopathy, Ascites, Hepatosplenomegaly, Abnormal cardiomyocyte morp... |
ORPHA:367 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Decreased lymphocyte proliferation... |
OMIM:619313 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Increased ... |
OMIM:602347 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pancreatic lymphangiectasis, Postnatal growth retardation, Hepatosplenomegaly, Ascites, Polyhydra... |
ORPHA:1655 |
| Cednik Syndrome |
|
Proteinuria, Nephrotic syndrome, Short stature |
ORPHA:66631 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Hepatic artery hyperplasia, Ascites, Portal vein hypoplasia, Hepatome... |
OMIM:619433 |
| Primary Hyperoxaluria Type 2 |
|
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... |
ORPHA:93599 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... |
OMIM:248250 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia, Congenital exfoliative erythroderma |
ORPHA:1954 |
| Trichohepatoenteric Syndrome 1 |
|
Cholestasis, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hypospadias, Galactosu... |
OMIM:222470 |
| Alport Syndrome 1, X-Linked |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... |
OMIM:301050 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Pancreatitis, Growth delay |
ORPHA:289916 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Disproportionate short stature, Hyperechogenic kidneys, Elevated circulating creatinine concentra... |
OMIM:301110 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... |
ORPHA:85445 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Ascites, Peripheral edema, Cardiom... |
ORPHA:57777 |
| Systemic Sclerosis |
|
Chronic kidney disease, Acute kidney injury, Osteomyelitis, Renal insufficiency, Elevated circula... |
ORPHA:90291 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
| Nephronophthisis 9 |
|
Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Renal c... |
OMIM:613824 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Ketonuria, Beta 2-microglobulinuria, Glycosuria, Postnat... |
OMIM:227810 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Elevated... |
ORPHA:368 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria, Hyperkalemia, Growth delay, Elevated creatine kinase after ex... |
ORPHA:57 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Edema, Abnormal circulating protein concentration, Abnormal circulating polysacc... |
ORPHA:103910 |
| Gracile Bone Dysplasia |
|
Ascites, Hypocalcemia, Hypoplastic spleen, Micropenis, Asplenia, Short stature |
OMIM:602361 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Short stature, Proteinuria |
ORPHA:1192 |
| Acrorenal Syndrome |
|
Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia |
ORPHA:971 |
| Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria |
OMIM:261100 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ... |
ORPHA:100024 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Lymphedema, Pancreatic lymphangiectasis, Ascites, Polyhydramnios, Splenomegaly, Hypocalcemia, Cry... |
OMIM:235255 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Periorbital edema, Intestinal lymphangiectasia, Horseshoe kidney, Lymphedema, Ve... |
OMIM:235510 |
| Granulomatous Slack Skin |
|
Acute kidney injury, Hypercalcemia, Nephrocalcinosis |
ORPHA:33111 |
| Pediatric Systemic Lupus Erythematosus |
|
Nephritis, Abnormality of the urinary system, Microangiopathic hemolytic anemia, Ascites, Lymphop... |
ORPHA:93552 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Ascites, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive pro... |
ORPHA:2070 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Cor pulmonale, Decreased circulating IgA level, Proteinuria, Macronodular cirrhosis, Mucopolysacc... |
OMIM:215250 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen... |
ORPHA:158061 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... |
ORPHA:615 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc... |
ORPHA:64753 |
| Wilson Disease |
|
Hypouricemia, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypoparathyroidism,... |
OMIM:277900 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... |
ORPHA:3337 |
| Avian Influenza |
|
Pneumonia, Hypoalbuminemia, Acute kidney injury, Myelitis, Hepatitis, Elevated circulating creati... |
ORPHA:454836 |
| Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... |
ORPHA:99845 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal... |
ORPHA:284426 |
| Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Short stature |
ORPHA:3156 |
| Hypomagnesemia 2, Renal |
|
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia |
OMIM:154020 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Decreased circulating IgG level, Hepatic fibrosis, Proximal tubulopathy, Cardiom... |
OMIM:212065 |
| Multiple Myeloma |
|
Nephropathy, Nephrotic syndrome, Acute kidney injury, Elevated circulating creatinine concentrati... |
ORPHA:29073 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... |
OMIM:300554 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Aminoaciduria, Nephrocalcinosis, Gl... |
OMIM:613404 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Pleural effusion, Polyhydr... |
OMIM:616897 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... |
OMIM:618528 |
| Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal... |
OMIM:242900 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Cryptorchidism, Ca... |
OMIM:620135 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Hypokalemia, Proteinu... |
ORPHA:213 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Facial edema, Edema, Oligohydramnios, Hyperlipidemia, Increased circulating anti... |
ORPHA:86816 |
| Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper... |
ORPHA:99879 |
| Relapsing Fever |
|
Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu... |
ORPHA:91547 |
| Senior-Loken Syndrome 8 |
|
Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn... |
OMIM:616307 |
| Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... |
OMIM:609583 |
| 46,Xy Sex Reversal 4 |
|
Recurrent otitis media, Elevated circulating creatinine concentration, Ureteropelvic junction obs... |
OMIM:154230 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr... |
OMIM:137920 |
| Klippel-Trénaunay Syndrome |
|
Microcytic anemia, Ascites, Abnormal tricuspid valve morphology, Hematuria, Atrial septal defect,... |
ORPHA:90308 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... |
ORPHA:29072 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... |
OMIM:617394 |
| Systemic Lupus Erythematosus |
|
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis |
OMIM:152700 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Ascites, Pleural effusion, Hyperammonemia, Nonimmune hydrops fetalis, Cirrhosis, Jaundice, Conjug... |
OMIM:617049 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Bone marrow hypocellularity, Decreased circulating IgG level, Abnormal heart mor... |
ORPHA:505248 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... |
ORPHA:37042 |
| Nephronophthisis 16 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... |
OMIM:615382 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Intrauterine growth retardation, Mesomelic short stature, Proteinuria, Hematuria, Sh... |
ORPHA:1765 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ... |
OMIM:610984 |
| Megabladder, Congenital |
|
Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys |
OMIM:618719 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Proteinuria, Renal insufficiency, Severe short stature |
OMIM:610965 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:166300 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Anasarca, Decreased circulating IgG1 level, Reduced circulating transferrin conc... |
ORPHA:90363 |
| Glycogen Storage Disease Vi |
|
Postnatal growth retardation, Hyperlipidemia, Increased hepatic glycogen content, Hypercholestero... |
OMIM:232700 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, I... |
ORPHA:470 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... |
ORPHA:53035 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Growth delay, Stage 5 chronic kidney ... |
OMIM:256100 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Ascites |
ORPHA:2198 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Cardiomyopathy, Abnormal circulating homocysteine concentrat... |
ORPHA:88618 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Increased serum bile acid concentration, Erythroderma, Short stature, Conjunctiv... |
OMIM:242150 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:90060 |
| Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Intrauterine growth retardation, Renal insuf... |
OMIM:251300 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... |
OMIM:619463 |
| Mpi-Cdg |
|
Hypoalbuminemia, Hepatic fibrosis, Portal hypertension, Hepatomegaly, Edema |
ORPHA:79319 |
| Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency |
ORPHA:254857 |
| Cirrhosis, Familial |
|
Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Ascites, Jaundic... |
OMIM:215600 |
| Alagille Syndrome 2 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria |
OMIM:610205 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, C... |
OMIM:618886 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Hyperechogenic kidneys |
OMIM:619111 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Gout, ... |
OMIM:618061 |
| Alg6-Cdg |
|
Hypoalbuminemia, Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver |
ORPHA:79320 |
| Wolman Disease |
|
Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Growth delay |
ORPHA:75233 |
| Chylous Ascites |
|
Ascites, Pancreatitis, Lymphedema |
ORPHA:1160 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Mild postnatal growth ret... |
OMIM:265300 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Prolonged neonatal jaundice, Ly... |
OMIM:257200 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Polyhydramnios, Splenomegaly, Hepatomegaly, Hydrops fetalis |
OMIM:619462 |
| Becker Muscular Dystrophy |
|
Myoglobinuria, Abnormal urinary color, Elevated circulating creatine kinase concentration |
ORPHA:98895 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... |
OMIM:308940 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Hyperbilirubinemia, Renal insufficiency |
ORPHA:713 |
| Orthostatic Hypotension 1 |
|
Elevated circulating dihydroxyphenylacetic acid concentration, Nocturia, Increased blood urea nit... |
OMIM:223360 |
| Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Intrauterine growth retardation, Renal insufficiency, Decreased circulating ren... |
ORPHA:320 |
| Retinitis Pigmentosa 59 |
|
Micropenis, Intrauterine growth retardation, Renal insufficiency |
OMIM:613861 |
| Nephronophthisis 18 |
|
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi... |
OMIM:615862 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Exercise-induced myoglobinuria, Highly elevated creatine kinase |
ORPHA:352479 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u... |
ORPHA:230 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Cardiomyopathy, Dicarboxylic aciduria, Hypertrophi... |
OMIM:212140 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Recurrent urin... |
OMIM:248190 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Macrovesicular hepatic steatosis, Polycystic kid... |
OMIM:608836 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal ... |
OMIM:614748 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... |
ORPHA:447 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Aggressive Systemic Mastocytosis |
|
Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C... |
ORPHA:98850 |
| Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Prolinuria, Hydroxyprolinuria, Hyperglycinemia... |
ORPHA:79101 |
| Papa Syndrome |
|
Crohn's disease, Proteinuria, Increased inflammatory response, Myositis, Pustule, Arthritis, Acne |
ORPHA:69126 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... |
ORPHA:158684 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... |
ORPHA:398063 |
| Lymphatic Malformation 6 |
|
Facial edema, Periorbital edema, Generalized edema, Chylothorax, Intestinal lymphangiectasia, Lym... |
OMIM:616843 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Exercise-induced myoglobinuria, Gout, Hyperuricemia, Elevated circulat... |
OMIM:232800 |
| Hennekam Syndrome |
|
Chylothorax, Lymphedema, Horseshoe kidney, Lymphopenia, Ascites, Mild postnatal growth retardatio... |
ORPHA:2136 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... |
ORPHA:223 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Dicarboxylic a... |
ORPHA:228308 |
| Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Ascites, Pleural effusion, Abnormal renal corticomedullary differe... |
OMIM:617397 |
| Acquired Ichthyosis |
|
Recurrent skin infections, Renal insufficiency |
ORPHA:454 |
| Liddle Syndrome 1 |
|
Hypokalemia, Renal insufficiency, Decreased circulating renin level |
OMIM:177200 |
| Alg12-Cdg |
|
Hypoalbuminemia, Biventricular hypertrophy, Hypocholesterolemia, Muscular ventricular septal defe... |
ORPHA:79324 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Decreased plasma free carnitin... |
ORPHA:157 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hypersplenism, Hepatosplenomegaly, Congenital hepatic fibrosis, Increased serum bile... |
ORPHA:731 |
| Plasminogen Deficiency, Type I |
|
Nephritis, Periodontitis, Nephrolithiasis, Decreased level of plasminogen, Conjunctivitis |
OMIM:217090 |
| Cockayne Syndrome Type 1 |
|
Postnatal growth retardation, Renal insufficiency, Proteinuria, Increased blood urea nitrogen, Co... |
ORPHA:90321 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hype... |
OMIM:201475 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Hydronephrosis, Elevated circulating long chain fatty acid concentration, Albuminu... |
OMIM:214100 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Nephritis, Pyelonephritis, Renal dysplasia, Unilateral renal atrophy |
OMIM:314300 |
| Birk-Landau-Perez Syndrome |
|
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Intrauterine growth ret... |
OMIM:617595 |
| Thyrocerebroretinal Syndrome |
|
Nephritis |
OMIM:274240 |
| Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Abnormal circulating lipid conce... |
ORPHA:186 |
| Nephrolithiasis, Calcium Oxalate, 1 |
|
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
| Nephronophthisis 4 |
|
Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tub... |
OMIM:606966 |
| Tempi Syndrome |
|
Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Abnormality of the ki... |
ORPHA:284227 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Absence of lymph node germinal center, Urinary retention,... |
ORPHA:79124 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:119 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration |
OMIM:616239 |
| Ochoa Syndrome |
|
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... |
ORPHA:2704 |
| Pseudomyxoma Peritonei |
|
Ascites, Lymphadenopathy, Abnormal peritoneum morphology |
ORPHA:26790 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Hyperbilirubinemia, Skin rash... |
ORPHA:542323 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu... |
ORPHA:829 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Alg8-Cdg |
|
Ascites, Intrauterine growth retardation, Oligohydramnios, Hyponatremia, Thrombocytopenia, Anemia... |
ORPHA:79325 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Rhizomelia, Short stature |
OMIM:617661 |
| Jeune Syndrome |
|
Nephropathy, Nephronophthisis, Renal insufficiency, Short stature |
ORPHA:474 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria, Hyperbilirubinemia |
OMIM:266120 |
| Mucopolysaccharidosis Type 7 |
|
Hepatitis, Lymphedema, Ascites, Splenomegaly, Mucopolysacchariduria, Hydrops fetalis |
ORPHA:584 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Renal insufficiency, Hyperammonemia |
ORPHA:79312 |
| Desmoplastic Small Round Cell Tumor |
|
Ascites, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Anem... |
ORPHA:83469 |
| Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomerulonephritis, Elevated circ... |
OMIM:619644 |
| Laurence-Moon Syndrome |
|
Short stature, Hypoplasia of penis, Renal insufficiency, Displacement of the urethral meatus |
ORPHA:2377 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... |
OMIM:146255 |
| Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... |
OMIM:610805 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... |
ORPHA:86839 |
