Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
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, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Nephrotic Syndrome, Type 17 |
|
Short stature, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... |
OMIM:618176 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... |
OMIM:308990 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... |
ORPHA:84090 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... |
OMIM:603278 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria |
ORPHA:419 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:619155 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Short stature, Nephropathy, Chronic kidney disease, Elevated circulating creatinine concentration... |
OMIM:617056 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria |
OMIM:614652 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Microscopic hematuria |
ORPHA:2613 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Pentosuria |
|
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... |
ORPHA:2843 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... |
OMIM:256300 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine... |
OMIM:614455 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, 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 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Renal h... |
OMIM:614377 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... |
OMIM:162000 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome... |
OMIM:242530 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Galloway-Mowat Syndrome 6 |
|
Short stature, Proteinuria, Growth delay, Nephrotic syndrome, Focal segmental glomerulosclerosis,... |
OMIM:618347 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Severe short stature, Proteinuria |
ORPHA:2820 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... |
ORPHA:839 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Short stature, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ne... |
OMIM:301006 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Stage... |
OMIM:617575 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration |
OMIM:160010 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stool... |
OMIM:619868 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Am... |
OMIM:615605 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Nephrosialidosis |
|
Renal insufficiency, Bone-marrow foam cells, Pericardial effusion, Nephrotic syndrome, Nephropath... |
OMIM:256150 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... |
OMIM:617006 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Growth delay, Hypocalcemia, As... |
ORPHA:100025 |
Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... |
ORPHA:275555 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
Galactosemia I |
|
Increased level of galactitol in plasma, Aminoaciduria, Albuminuria, Galactosuria, Hypergalactose... |
OMIM:230400 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci... |
OMIM:608709 |
Dent Disease 2 |
|
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc... |
OMIM:300555 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Short stature, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ... |
OMIM:620010 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Short stature, Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... |
OMIM:611555 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Preeclampsia/Eclampsia 1 |
|
Intrauterine growth retardation, Proteinuria |
OMIM:189800 |
Complement Factor H Deficiency |
|
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... |
OMIM:609814 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Short stature, Proteinuria, Eczema, Minimal change glomerulonephriti... |
OMIM:618348 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... |
ORPHA:79233 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Polycystic liver disease, Renal cyst, Increased total bilirubin |
OMIM:174050 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Renal insufficiency, Jaundice, Ascites, Increased total bilirubin |
ORPHA:890 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria |
OMIM:245900 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease |
OMIM:615995 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Splenomegaly, Abnorma... |
ORPHA:1046 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia... |
ORPHA:411536 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Bone-... |
OMIM:256550 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Hyperuricemia, Gout |
ORPHA:510 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Polyhydramnios, Renal hypoplasia/aplasia, Throm... |
ORPHA:2123 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... |
OMIM:269920 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
ORPHA:2364 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia |
ORPHA:2668 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... |
OMIM:308240 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency |
OMIM:615991 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... |
OMIM:613845 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu... |
OMIM:613779 |
Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thro... |
OMIM:613496 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Elevated circulating creatinine concentration, Abnormal renal corti... |
OMIM:616733 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Hypertro... |
ORPHA:295 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... |
ORPHA:1652 |
Glycogen Storage Disease V |
|
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury |
ORPHA:54057 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Short stature, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, R... |
OMIM:615993 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Edema, Hypoalbuminemia, Hypocalcemia, Decreased proportion of CD3-positive T... |
ORPHA:90362 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Short stature, Proteinuria, Glomerulonephritis, Elevated circulating creatinine conce... |
OMIM:614376 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra |
OMIM:300323 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Aicardi-Goutieres Syndrome 9 |
|
Edema, Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Hemolytic ... |
OMIM:619487 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Hypospadias, Jaundice, Micronodular c... |
OMIM:301045 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,... |
OMIM:209950 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Alg1-Cdg |
|
Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia, Abnormality of the kidney |
ORPHA:79327 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Short stature, Elevated circulating C-reactive protein concentration, Reduced natur... |
OMIM:616050 |
Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... |
OMIM:617021 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:620235 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Oligohydramnios, Hyperammonemia, Pleural effusion, Hyperalani... |
OMIM:614702 |
Sialidosis Type 2 |
|
Hepatomegaly, Short stature, Splenomegaly, Hydrops fetalis, Pedal edema, Nephropathy, Ascites |
ORPHA:87876 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... |
ORPHA:439232 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria |
ORPHA:225 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Renal insufficiency, Short stature, Jaundice, Chronic kidney disease,... |
ORPHA:1667 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... |
OMIM:274150 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... |
OMIM:134600 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Renal... |
OMIM:613388 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Short stature, Hypercalcemia, Proteinuria, Macroscopic ... |
ORPHA:251004 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... |
ORPHA:94059 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Edema, Cryptorchidism, Thrombocytopenia, Elevated circulating creatinine concentrat... |
OMIM:608104 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Proteinuria, Glomerulonephritis, Growth delay, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Edema, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephr... |
OMIM:105200 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma, Hypoalbuminemia |
OMIM:227090 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... |
OMIM:613752 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Glycogen Storage Disease Ia |
|
Short stature, Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Growth delay, Focal segmental ... |
OMIM:232200 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n... |
OMIM:617872 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Intrauterine growth reta... |
ORPHA:858 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Hypophosphatemia, Hypopho... |
OMIM:618913 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin... |
ORPHA:3467 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Short stature, Renal hypoplasia |
OMIM:618681 |
Glycogen Storage Disease Iv |
|
Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, ... |
OMIM:232500 |
Osteopetrosis, Autosomal Recessive 9 |
|
Postnatal growth retardation, Stage 3 chronic kidney disease, Elevated circulating creatinine con... |
OMIM:620366 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... |
OMIM:276700 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Nephrot... |
OMIM:607426 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Short stature, Bicuspid aortic valve, Decreased circulating IgA level, Decr... |
OMIM:617744 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D... |
ORPHA:49041 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Edema, Decreased circulating antibody level, Growth delay, Iron deficiency anemia, ... |
OMIM:226300 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Proteinuria, Splenomegaly, Hydrops fetalis, Nephrotic syndrome, Ascites |
ORPHA:834 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... |
ORPHA:507 |
Cystinuria |
|
Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia |
ORPHA:214 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Pericardial effusion, Splenomegaly, Hypersplenism, Throm... |
ORPHA:77259 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Nephrotic syndrom... |
OMIM:617303 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Splenomegaly, Azoosperm... |
OMIM:235200 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Hyperuricemia, Acute kidney ... |
ORPHA:411543 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis |
ORPHA:3327 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Hyperuricemia, Ve... |
ORPHA:261222 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Griscelli Syndrome |
|
Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Pedal... |
ORPHA:381 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Abnormality of th... |
ORPHA:85443 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Short stature, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hypo... |
OMIM:619013 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Splenomeg... |
ORPHA:64743 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
Malaria |
|
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steat... |
OMIM:613070 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica... |
OMIM:619386 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia |
ORPHA:28 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome... |
OMIM:251880 |
Analbuminemia |
|
Edema, Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, H... |
OMIM:616000 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas |
OMIM:134610 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Proteinuria, Short stature, Abnormality of the kidney, Hepatocellular carcinoma, Hy... |
ORPHA:369 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Short stature, Pancreatic fibrosis, Hepatocellular carcinoma, Splenome... |
OMIM:232220 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... |
OMIM:614227 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Elevated circulating C-reactive protein concentration, Increased circulating ferriti... |
OMIM:614034 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Edema, Hyperammonemia, Growth delay, Hypertrophic cardiomyopathy, Ascites, Abnormal renal tubule ... |
OMIM:611719 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney d... |
ORPHA:79147 |
Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Abnormal circulating IgA level, A... |
OMIM:241600 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... |
ORPHA:84081 |
Autoimmune Hepatitis |
|
Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis... |
ORPHA:2137 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Growth delay, Pulmonic stenosis, P... |
ORPHA:2414 |
Muckle-Wells Syndrome |
|
Renal insufficiency, Short stature, Maculopapular exanthema, Elevated circulating C-reactive prot... |
OMIM:191900 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... |
ORPHA:411634 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Conjugated hyperbilirubinemia, Postnatal growth retardation, Intrah... |
OMIM:617093 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Edema, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosis, Cirrhos... |
OMIM:602579 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Short stature, M... |
ORPHA:1830 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal ... |
ORPHA:324525 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis,... |
ORPHA:292 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Short stature, Proteinuria, Absence of renal cor... |
OMIM:120330 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Reduced natural killer cell activity, Increased circulating f... |
ORPHA:540 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperammonemia, Growth delay, Hyperlysinuria, Hyperlysinemia |
OMIM:238750 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Chronic pancreatitis, Hyperlipidemia, Gout, Hematuria, Focal se... |
OMIM:232240 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Hypouricemia, Short stature, Proteinuria, Nephrocalcinosis, Glycosuria, Aminoa... |
OMIM:616026 |
Hydrops Fetalis |
|
Abnormality of the kidney, Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fe... |
ORPHA:1041 |
Mulibrey Nanism |
|
Hepatomegaly, Short stature, Cardiomegaly, Myocardial fibrosis, Hydrops fetalis, Growth delay, Pe... |
OMIM:253250 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Short stature, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia,... |
ORPHA:97362 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology... |
OMIM:608776 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Pustule... |
ORPHA:247353 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Growth delay, Increased blood urea nitrogen, Glome... |
OMIM:223900 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Abnormal heart valve morphology, ... |
ORPHA:36412 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidis... |
OMIM:618183 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Short stature, Proteinuria, Stage 5 chronic kidney disease, Nephroti... |
OMIM:617729 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Edema, Pedal edema, Aminoaciduria, Hypoalbumin... |
OMIM:277900 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Fasciitis, Elevated circulating creatine... |
ORPHA:36234 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Generalized edema, Edema, Reduced... |
OMIM:603553 |
Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulating antibody level, ... |
OMIM:615122 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis |
ORPHA:375 |
Liddle Syndrome |
|
Nephropathy, Renal insufficiency, Hypokalemia |
ORPHA:526 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki... |
OMIM:300009 |
Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Proteinuria, Nephritis |
ORPHA:182050 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Genera... |
OMIM:267700 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Growth d... |
OMIM:619858 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia, Hepatic steatosis, Panc... |
OMIM:618805 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:611773 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:276621 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Proteinuria, Nodular regenerative hyperplasia of liver, Elevated circulating c... |
ORPHA:247691 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Dilated cardiomyopa... |
ORPHA:367 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Growth delay, Hypoalbuminemia, Hypocholesterolemia, Hypo... |
OMIM:246700 |
Cednik Syndrome |
|
Nephrotic syndrome, Short stature, Proteinuria |
ORPHA:66631 |
Systemic Sclerosis |
|
Renal insufficiency, Pericarditis, Proteinuria, Elevated circulating creatine kinase concentratio... |
ORPHA:90291 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly... |
ORPHA:247585 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Postnatal growth retardation, Cryptorchi... |
ORPHA:1655 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Polyhydramnios, Conjugated hyperbilirubinemia, ... |
OMIM:617156 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal insufficiency, Hyperammonemia, Growth delay, Renal tubular dysfunction, Pancreatitis |
ORPHA:289916 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia, Growth delay, Myoglobinuria, Acute kidney ... |
ORPHA:57 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Hypoalbuminemia |
ORPHA:1954 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... |
ORPHA:368 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... |
OMIM:619313 |
Trichohepatoenteric Syndrome 1 |
|
Polyhydramnios, Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Short stature, Incr... |
OMIM:222470 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia |
ORPHA:971 |
Gracile Bone Dysplasia |
|
Short stature, Asplenia, Hypoplastic spleen, Hypocalcemia, Micropenis, Ascites |
OMIM:602361 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy, Portal vei... |
OMIM:619433 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... |
ORPHA:158061 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Short stature, Proteinuria |
ORPHA:1192 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... |
ORPHA:103910 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr... |
ORPHA:100024 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Postnatal growth retardation, Generalize... |
OMIM:227810 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Pulmonary edema, Left atrial enlarge... |
ORPHA:57777 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Atrial septal defect, Pleural lymphangiectasia, Pericardial lymphangiectasia, Mild postnatal grow... |
OMIM:235510 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Cr... |
OMIM:235255 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Short stature, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Ne... |
OMIM:215250 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... |
ORPHA:284426 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Edema, Pericardial effusion, Lymphadenopathy, Hemat... |
ORPHA:93552 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Pedal edema, Bacteria... |
ORPHA:615 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Edema, Leukocytosis, Hypoalb... |
ORPHA:2070 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri... |
ORPHA:99845 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Short stature, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
Cystinosis |
|
Renal insufficiency, Short stature, Proteinuria, Hypophosphatemia, Renal tubular dysfunction, Hyp... |
ORPHA:213 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Short stature, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypo... |
OMIM:300554 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Proteinuria, Nonimmune hydrops fetalis, Edema, Pericardial effusion, ... |
OMIM:212065 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Giant cell hepatitis, Proteinuria, Ventricular septal defect, Conjugated hyperbilir... |
OMIM:613404 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... |
ORPHA:3337 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Pancytopenia, Proteinuria, Abnormal immunoglobulin level, Bilateral cryptorc... |
OMIM:242900 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... |
OMIM:618528 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Hypertroph... |
OMIM:616897 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Nonimmune hydrops fetalis, Elevated circulating alpha-fetoprotein concentration, Conjugated hyper... |
OMIM:617049 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec... |
OMIM:154230 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... |
OMIM:616307 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Amyloidosis, Finnish Type |
|
Nephrotic syndrome, Renal insufficiency |
OMIM:105120 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:29072 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Congenital Analbuminemia |
|
Edema, Facial edema, Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Incr... |
ORPHA:86816 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Edema, Microcytic anemia, Hydrops fetalis, Hematuria, Abnormal tricuspid valve morp... |
ORPHA:90308 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Dyschondrosteosis-Nephritis Syndrome |
|
Short stature, Proteinuria, Nephropathy, Hematuria, Mesomelic short stature, Intrauterine growth ... |
ORPHA:1765 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... |
OMIM:617394 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Short stature, Abnormal urine sodium concentration, Nephrocalcinosis, Hypoka... |
ORPHA:320 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Abnormal h... |
ORPHA:505248 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Severe short stature, Hypoalbuminemia, Proteinuria |
OMIM:610965 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Short stature, Proteinuria, Nephrotic syndrome,... |
OMIM:251300 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91547 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Ascites |
ORPHA:2198 |
Megabladder, Congenital |
|
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease |
OMIM:618719 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating IgG1 level, Intestinal lymphedema, Edema, Lymphedema, Reduced ... |
ORPHA:90363 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:256100 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Lymphadenitis, Leukocyto... |
OMIM:618886 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Edema, Hypoalbuminemia, Hepatic fibrosis |
ORPHA:79319 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency |
ORPHA:254857 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased... |
OMIM:618061 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu... |
OMIM:215600 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenop... |
OMIM:257200 |
Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:98895 |
Chylous Ascites |
|
Ascites, Pancreatitis, Lymphedema |
ORPHA:1160 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Short stature, Decreased circulating copper co... |
OMIM:242150 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Alg6-Cdg |
|
Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice |
ORPHA:79320 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Growth delay, Ascites, Anemia |
ORPHA:75233 |
Lymphangiectasia, Pulmonary, Congenital |
|
Mild postnatal growth retardation, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema... |
OMIM:265300 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis |
OMIM:619462 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
Retinitis Pigmentosa 59 |
|
Intrauterine growth retardation, Renal insufficiency, Micropenis |
OMIM:613861 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Rhinitis, Increas... |
ORPHA:230 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, Hyperlipidemia, Hypercholestero... |
OMIM:232700 |
Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenom... |
OMIM:616843 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Gout, Hematur... |
OMIM:232800 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... |
ORPHA:447 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Liddle Syndrome 1 |
|
Renal insufficiency, Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia |
ORPHA:713 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... |
ORPHA:98850 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesi... |
OMIM:608836 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Crohn's disease |
ORPHA:69126 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Short stature, Functional abnormality of the bladder, Enuresis ... |
ORPHA:223 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Highly elevated creatine kinase, Exercise-induced myoglobinuria |
ORPHA:352479 |
Hennekam Syndrome |
|
Mild postnatal growth retardation, Ectopic kidney, Pericardial effusion, Splenomegaly, Lymphedema... |
ORPHA:2136 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Growth delay... |
OMIM:617595 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:212140 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Thyrocerebroretinal Syndrome |
|
Nephritis |
OMIM:274240 |
Acquired Ichthyosis |
|
Renal insufficiency, Recurrent skin infections |
ORPHA:454 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Secundum atrial septal defect, Abnormal renal corticomedullary differentiation, Ple... |
OMIM:617397 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:90060 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Aminoaciduria, Albuminuria, Elevated circulating long chain fatty acid concentration... |
OMIM:214100 |
Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis |
OMIM:217090 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:255120 |
Alg12-Cdg |
|
Hyponatremia, Hypospadias, Partial absence of specific antibody response to Haemophilus influenza... |
ORPHA:79324 |
Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria, Postnatal growth retardation, Uveitis, Conjunctivitis, Increase... |
ORPHA:90321 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:119 |
Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hyperprolinemia, Hypergly... |
ORPHA:79101 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis |
OMIM:314300 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration |
OMIM:616239 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Tempi Syndrome |
|
Transudative pleural effusion, Abnormality of the kidney, Increased circulating IgG level, Increa... |
ORPHA:284227 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... |
OMIM:606966 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Short stature... |
OMIM:203800 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Rhizomelia, Short stature, Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia |
OMIM:617661 |
Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Short stature, Nephronophthisis |
ORPHA:474 |
Alg8-Cdg |
|
Hyponatremia, Edema, Hydrops fetalis, Anemia, Intrauterine growth retardation, Ascites, Thrombocy... |
ORPHA:79325 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Ascites, Lymphadenopathy |
ORPHA:26790 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Skin rash, Elevated circulating creatinine concentration, Hyperb... |
ORPHA:542323 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:201475 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
Primary Biliary Cholangitis |
|
Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia, Jaundice, Bi... |
ORPHA:186 |
Glycogen Storage Disease Ixd |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:300559 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Moderate postnatal growth retardatio... |
ORPHA:69076 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Pancreatitis, Hyperammonemia |
ORPHA:79312 |
Laurence-Moon Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Short stature, Displacement of the urethral meatus |
ORPHA:2377 |
Immunodeficiency 91 And Hyperinflammation |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated ... |
OMIM:619644 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intrauterine growth retardation, Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine ki... |
OMIM:619055 |
Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... |
OMIM:194380 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
Dengue Fever |
|
Hepatomegaly, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the lymphatic system, Hydrop... |
ORPHA:69735 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Mucopolysaccharidosis Type 7 |
|
Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Mucopolysacchariduria, Ascites |
ORPHA:584 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... |
OMIM:300908 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Short stature, Proteinuria |
OMIM:616901 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, H... |
ORPHA:171 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... |
OMIM:620300 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Abnormal pericardium morphology, Leukocytosis, Hypoalbuminemia, Pleural empyema, C... |
ORPHA:67 |
Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia |
ORPHA:35710 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Hematuria, Arthritis, Keratoco... |
ORPHA:91138 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Enlarged ovaries, Proteinuria, Increased circulating Ig... |
ORPHA:2298 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Pancreatitis, Hyperammonemia |
ORPHA:27 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Intraut... |
ORPHA:99885 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia, Acne, Seborrheic dermatitis |
OMIM:614441 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Abnormal lymphocyte proliferation, Atrial ... |
OMIM:619573 |
Classic Galactosemia |
|
Hepatomegaly, Abnormal erythrocyte enzyme level, Cryptorchidism, Jaundice, Delayed puberty, Ascites |
ORPHA:79239 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
3-Methylglutaconic aciduria, Hypoalbuminemia, Macrovesicular hepatic steatosis, Bile duct prolife... |
OMIM:618329 |
Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Peritonitis, Pleural effusion, Ascites, Abnormality of the ovary |
ORPHA:314473 |
Ménétrier Disease |
|
Hypoproteinemia, Peripheral edema, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Renal hypoplasia |
OMIM:615996 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... |
ORPHA:91139 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... |
ORPHA:47159 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Pulmonary edema, Cardiomegaly, Pericardial effusion, Muscu... |
OMIM:115197 |
Fumarase Deficiency |
|
Increased urine succinate level, Bilateral fetal pyelectasis, Polyhydramnios, Intrahepatic choles... |
OMIM:606812 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Myocarditis, Jaundice... |
ORPHA:549 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:228305 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Proportionate short stature, Growth delay, Periodontitis, Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short stature, Hypospadias, Renal hypoplasia, Renal cyst, Hydrops fetalis, Hepatic fibrosis, Poly... |
OMIM:614091 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating... |
ORPHA:42 |
Argininosuccinic Aciduria |
|
Short stature, Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia |
ORPHA:23 |
Necrotizing Enterocolitis |
|
Hyponatremia, Edema, Leukocytosis, Peritonitis, Abnormal heart morphology, Neutropenia, Ascites, ... |
ORPHA:391673 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Short stature, Hypocalcemia |
ORPHA:1563 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio... |
OMIM:611881 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevat... |
OMIM:619991 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru... |
OMIM:233450 |
Immunodeficiency 22 |
|
Pericarditis, Thrombocytopenia, Decreased circulating total IgM, Ascites, Decreased circulating I... |
OMIM:615758 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Postnatal growth retardation, Elevated amniotic fluid alpha-fet... |
ORPHA:96179 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171420 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... |
OMIM:277400 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Short stature, Unilateral renal agenesis |
ORPHA:281090 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Growth delay, Mild proteinuria, Hyperalaninemia |
OMIM:619147 |
Familial Mediterranean Fever |
|
Pericarditis, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Pedal edema, Lymphadenopathy, Nep... |
ORPHA:342 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Postnatal growth retardation, Hypercalciuria, Intrauterine growth ret... |
OMIM:614732 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,... |
ORPHA:90038 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Renal salt wasting, Hypersplenism, Mi... |
ORPHA:275761 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Enlarged pol... |
ORPHA:91348 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, G... |
OMIM:615508 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Splenomegaly, Leukocytos... |
OMIM:259720 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating... |
ORPHA:79126 |
Transcobalamin Deficiency |
|
Acute kidney injury, Methylmalonic aciduria |
ORPHA:859 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... |
ORPHA:105 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Elevat... |
OMIM:617478 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Secundum atr... |
OMIM:619534 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Short stature, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney di... |
OMIM:208500 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Gr... |
ORPHA:18 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ... |
ORPHA:699 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Splenomegaly, Thrombocytop... |
OMIM:608013 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... |
ORPHA:370348 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Short stature, Proteinuria |
ORPHA:2715 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ... |
ORPHA:91500 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney disease, Hyperkalemia, Elevate... |
ORPHA:340 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Proportionate short stat... |
ORPHA:71212 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Grow... |
ORPHA:411629 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormality of the kidney, Edema, Abnormal heart morphology, Hepatosplenomegaly, As... |
ORPHA:93400 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T... |
OMIM:251000 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Cardiomegaly, Intr... |
OMIM:618838 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Lymphedema, Abnormality of the lymphatic system, Chyloper... |
ORPHA:538 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyperbilirubinemia, In... |
OMIM:615710 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Short stature, Renal hypoplasia, Proteinuria |
ORPHA:1307 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... |
OMIM:200995 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra... |
ORPHA:264580 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Nephrotic syndrom... |
OMIM:617713 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Proteinuria, Abnormal heart valve morphol... |
ORPHA:77261 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Majeed Syndrome |
|
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Pustule, ... |
ORPHA:77297 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra... |
ORPHA:79240 |
Poems Syndrome |
|
Edema, Pericardial effusion, Lymphadenopathy, Increased circulating antibody level, Thrombocytosi... |
ORPHA:2905 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Renal insufficiency, Pericarditis, Lymphopenia, Elevated circulating creatine ki... |
ORPHA:99826 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Pericar... |
ORPHA:358 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Pedal edema, Nephrotic syndrome, Pleural effusion... |
ORPHA:330001 |
Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Elevated circulating C-reactive protein concentration, Stage ... |
OMIM:615559 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Elevated circulating creatine kinase concentration, Asplenia,... |
OMIM:185070 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormality of the pancreas, Jaundice, Abnormal pineal melatonin secretion, Cholecystitis, Increa... |
ORPHA:69665 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin ... |
OMIM:619127 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I... |
OMIM:603585 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Edema, Polyhydramnios, Splenomegaly, Renal hypoplasia, P... |
OMIM:269860 |
Melas |
|
Hypoparathyroidism, Proteinuria, Short stature, Dilated cardiomyopathy, Concentric hypertrophic c... |
ORPHA:550 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:488627 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Postnatal growth retardation, Hydroureter, Vesicoureteral reflux, Nephrolithiasis |
OMIM:617219 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Postnatal growth retardation, Multiple bladder diverticula, Recurrent otitis media, ... |
ORPHA:2728 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis |
OMIM:102700 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Galloway-Mowat Syndrome |
|
Short stature, Proteinuria, Nephropathy, Nephrotic syndrome, Intrauterine growth retardation |
ORPHA:2065 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephropathy, Renal insufficiency, Hypospadias, Nephroblastoma |
OMIM:194072 |
Microscopic Polyangiitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe... |
ORPHA:727 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
OMIM:609015 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial ... |
ORPHA:139402 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Peritonitis, Pleural effusion, Ascites, Abnormality of the ovary |
ORPHA:314478 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... |
ORPHA:33001 |
Helix Syndrome |
|
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria |
OMIM:617671 |
Attrv30M Amyloidosis |
|
Nephropathy, Cardiomyopathy, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res... |
ORPHA:183 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Abnormal circulating fatty-acid concentration, Renal Fanconi syndrome, Glycosuria, H... |
ORPHA:263455 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocyto... |
ORPHA:14 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Atrial septal defect, Hypertriglyceridemia, Ventricular septal defe... |
OMIM:118450 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Lymphedema, Ventricular septal hypertrophy, Urinary mulberry ce... |
OMIM:301500 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Periorbital edema, Growth delay, Hypoplasia of the thymus, Multiple bladder div... |
OMIM:613177 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Recurrent urinary tract infections, Pancytopenia, Short stature, Portal hypertension, Cholestasis... |
OMIM:613658 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ascites, Pedal edema |
ORPHA:168811 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Renal insufficiency, Short stature |
OMIM:247410 |
Ddost-Cdg |
|
Short stature, Nephrotic range proteinuria |
ORPHA:300536 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Rena... |
ORPHA:556037 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Short stature, Urinary incontinence, Decreased serum cre... |
OMIM:618885 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529799 |
Farber Disease |
|
Short stature, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Hydrops fetalis... |
ORPHA:333 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopat... |
OMIM:619051 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Dilated cardiomyopathy, Growth delay, Anemia, Decreased serum zinc, Hypoalb... |
ORPHA:89842 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Severe ... |
ORPHA:2237 |
Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating g... |
ORPHA:64739 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Growth delay, Hyperuricemia, Hypoph... |
ORPHA:469 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Growth delay, Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
Rhyns Syndrome |
|
Renal insufficiency, Chronic kidney disease, Short stature, Nephronophthisis |
OMIM:602152 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Polycystic kidney dysplasia |
OMIM:173900 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria |
OMIM:619685 |
Perlman Syndrome |
|
Nephrogenic rest, Renal hamartoma, Edema, Polyhydramnios, Cryptorchidism, Nephroblastomatosis, Pa... |
OMIM:267000 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Short stature, Hypospadias, Urolithiasis, Gout, Hyperuricosuria, Hyperuricem... |
OMIM:300661 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Predominantly lower limb lymphedema, ... |
ORPHA:2035 |
Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Short stature, Proteinuria, Thyroiditis, Hyperlipidemia, Stage 5 chronic ki... |
ORPHA:79259 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97282 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, H... |
OMIM:251900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97278 |
Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Increased circulating IgG level, Leukopenia, ... |
ORPHA:99827 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Lamellar Ichthyosis |
|
Chronic otitis media, Renal insufficiency, Short stature, Erythroderma |
ORPHA:313 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Abnormality of the kidney, Abnormal renal cortex morphology, Abnormal heart morphology, Abnormali... |
ORPHA:464321 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Rena... |
ORPHA:556030 |
Pheochromocytoma |
|
Renal artery stenosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171300 |
Eisenmenger Syndrome |
|
Hepatomegaly, Renal insufficiency, Ventricular septal defect, Elevated circulating C-reactive pro... |
ORPHA:97214 |
Smith-Lemli-Opitz Syndrome |
|
Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Atrial septal defect, Micropenis, Hepatic steat... |
OMIM:270400 |
Adams-Oliver Syndrome |
|
Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibrosis, Leukopenia... |
ORPHA:974 |
Meningococcal Meningitis |
|
Skin rash, Renal insufficiency, Infectious encephalitis, Elevated circulating C-reactive protein ... |
ORPHA:33475 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97261 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... |
OMIM:619381 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:86818 |
Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... |
OMIM:616217 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Ventriculomegaly With Cystic Kidney Disease |
|
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... |
OMIM:603903 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Severe short stature, Short stature, Ventricular septal defect, Cryptorchidism... |
OMIM:601186 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Short stature, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly |
OMIM:619064 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema, Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Dehyd... |
OMIM:619377 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Stage 5 chronic kidney disease |
OMIM:613819 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Abnormality of the ureter, Amin... |
ORPHA:30 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97283 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Pancreatitis, Abnormal renal tubule mor... |
ORPHA:188 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Hepatomegaly, Giant cell hepatitis, Extramedullary hematopoiesis, Conjugated hyperbil... |
ORPHA:79303 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Short stature, Polyhydramnios, Increased nuchal translucency, Growt... |
ORPHA:1052 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia |
ORPHA:99931 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki... |
ORPHA:423 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Horseshoe kidney,... |
ORPHA:391641 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Orchitis, Urinary bladder ... |
ORPHA:556 |
Reynolds Syndrome |
|
Hepatomegaly, Jaundice, Xerostomia, Cirrhosis, Ascites |
ORPHA:779 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Hypoplasia of penis, Short stature, Renal hypoplasia, Renal dysplasia |
ORPHA:85321 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration... |
OMIM:619743 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
Babesiosis |
|
Renal insufficiency |
ORPHA:108 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... |
ORPHA:94093 |
Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Nonimmune hydrops fetalis, Ureteral agenesis, Bil... |
OMIM:617667 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Short stature, Hepatitis, Severe postnatal growth retardation, Abnormal rena... |
ORPHA:440713 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitin... |
ORPHA:391428 |
Relapsing Polychondritis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... |
ORPHA:728 |
Humeroradial Synostosis |
|
Renal insufficiency |
OMIM:236400 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys... |
ORPHA:95455 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Ascites, Mitral valve prolapse |
ORPHA:2848 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616629 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephrotic syndrome, Malar rash, Nephritis |
OMIM:603909 |
Ohdo Syndrome |
|
Short stature, Proteinuria |
OMIM:249620 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Ventricular sept... |
OMIM:614921 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Hem... |
ORPHA:761 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... |
ORPHA:75565 |
Spondyloenchondrodysplasia |
|
Proteinuria, Short stature, Pneumonia, Skin rash, Chronic kidney disease, Disproportionate short-... |
ORPHA:1855 |
Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevated circu... |
OMIM:232300 |
Calciphylaxis |
|
Hyperphosphatemia, Stage 5 chronic kidney disease |
ORPHA:280062 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Growth delay, Nephrocalcinosis, 3-Methylglutaconic aciduria |
ORPHA:445038 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Short stature, Cryptorchidism, Thr... |
OMIM:617053 |
Nail-Patella Syndrome |
|
Renal insufficiency, Short stature, Glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome |
OMIM:161200 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia |
OMIM:614922 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Severe Acute Respiratory Syndrome |
|
Acute infectious pneumonia, Acute kidney injury |
ORPHA:140896 |
Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Recurrent bacterial skin infections, Viral hepatiti... |
ORPHA:101330 |
Fabry Disease |
|
Abnormal endocardium morphology, Glomerulopathy, Renal insufficiency, Proteinuria, Short stature,... |
ORPHA:324 |
Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce... |
OMIM:309000 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Porphyria Variegata |
|
Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di... |
ORPHA:79473 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Polycystic ovaries, Cardiomy... |
ORPHA:79086 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:607155 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97280 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Intrauterine growth retardation, Hypoplastic spleen, Patent foramen ovale |
ORPHA:89844 |
Acute Intermittent Porphyria |
|
Hyponatremia, Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Incr... |
ORPHA:79276 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Elevated circulat... |
ORPHA:900 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... |
OMIM:140000 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Growth delay, Hematuria, Renal corticomedu... |
OMIM:243910 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Aciduria, Microvesicular hepatic steatosis, Micronodular cirrhosis, Jaundice, 3-Met... |
OMIM:203700 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, Splenomegaly, Growth delay, Bil... |
OMIM:613027 |
Mogs-Cdg |
|
Decreased circulating IgG level, Hepatomegaly, Generalized edema, Pulmonary edema, Edema, Cardiom... |
ORPHA:79330 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Abnormal blood ion concentration, Oliguria, Hypop... |
ORPHA:31824 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... |
OMIM:263200 |
Scrub Typhus |
|
Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Infectious encephalitis |
ORPHA:83317 |
Argininemia |
|
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Hyperammonemia, Cholestasis, ... |
OMIM:207800 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Urete... |
ORPHA:261265 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Stage 5 chronic kidney disease, R... |
OMIM:613159 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Nephritis, Pancr... |
ORPHA:449427 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal physiology, Card... |
OMIM:266500 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepatocellular carcinoma, In... |
ORPHA:465508 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... |
OMIM:137940 |
Microsporidiosis |
|
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Prostatitis... |
ORPHA:2552 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hemoly... |
ORPHA:79282 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Aspira... |
ORPHA:1018 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Growth delay, Hypoalbuminemia, Anemia, Decreased circulating antibody level |
ORPHA:79396 |
Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:255125 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency |
OMIM:615986 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decreased urinary potassium... |
ORPHA:95409 |
Variant Abeta2M Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis |
ORPHA:314652 |
Martin-Probst Syndrome |
|
Renal insufficiency, Short stature, Proteinuria, Chordee, Micropenis |
OMIM:300519 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Short stature, Nephronophthisis |
OMIM:615630 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatomegaly, Short stature, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Micronod... |
OMIM:256810 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Short stature, Stage 5 chronic kidney disease, Glycosuria |
OMIM:268315 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Short stature, Abnormal heart morphology, Hypoalbuminemia, Atrial septal defec... |
ORPHA:79076 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... |
OMIM:616878 |
Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Short stature, Proteinuria, Elevated circ... |
ORPHA:355 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Nonimmune hydrops fetalis, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular sept... |
OMIM:618052 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hyperalaninemia, Tubulointerstitial nephritis |
OMIM:614582 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease, Rhizomelia |
OMIM:618821 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Boutonneuse Fever |
|
Skin rash, Renal insufficiency, Maculopapular exanthema |
ORPHA:83313 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Short stature, Splenomegaly, Micronodular cirrhosis, Ascites, Thrombocytopenia |
OMIM:301072 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Recurrent otitis media, Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscop... |
OMIM:619525 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Pulmonary ede... |
ORPHA:244242 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Abnormal erythrocy... |
ORPHA:288 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Atrial septal defect, Micropenis, ... |
OMIM:243800 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Rhizomelia, Short stature, Hypospadias, Postnatal growth retardation, Hemoly... |
OMIM:611209 |
Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Impaired T cell function, Anisocytosis, Fola... |
OMIM:258900 |
Agel Amyloidosis |
|
Proteinuria, Edema, Xerostomia, Stage 5 chronic kidney disease, Cardiomyopathy, Blepharochalasis,... |
ORPHA:85448 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... |
OMIM:306955 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:173 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney, Growth delay |
ORPHA:1764 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:206549 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Hematuria, Arthritis, Malar ... |
ORPHA:536 |
Snakebite Envenomation |
|
Hyponatremia, Acute kidney injury |
ORPHA:449285 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hyperalaninemia, Stage 5 chronic kidney disease, Lacticaciduria |
OMIM:618250 |
Familial Mediterranean Fever |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Peritonitis, Stage... |
OMIM:249100 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency |
ORPHA:2165 |
Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites |
OMIM:620369 |
Lysinuric Protein Intolerance |
|
Short stature, Hypolysinemia, Increased circulating ferritin concentration, Stage 5 chronic kidne... |
OMIM:222700 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria |
OMIM:614231 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Edema, Cardiomegaly, Pericardial effusion, Polyhydram... |
ORPHA:51608 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:99880 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy... |
ORPHA:31826 |
Mercury Poisoning |
|
Interstitial pneumonitis, Hypokalemia, Acute kidney injury |
ORPHA:330021 |
Castleman Disease |
|
Hematuria, Renal insufficiency, Ureteral obstruction, Elevated circulating C-reactive protein con... |
ORPHA:160 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... |
ORPHA:90068 |
Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia, Ascites, Intrauterine growth r... |
ORPHA:1556 |
Joubert Syndrome 9 |
|
Stage 5 chronic kidney disease |
OMIM:612285 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:143 |
Renal Nutcracker Syndrome |
|
Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis |
ORPHA:71273 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Yellow Fever |
|
Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase concentration, Ac... |
ORPHA:99829 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic otitis... |
ORPHA:534 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Skin rash, Chronic kidney disease, Increased LDL cholest... |
ORPHA:330015 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... |
ORPHA:308552 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Short stature, Ventricular septal defect, Decreased response to growth hormone stim... |
OMIM:602782 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Micropenis, Proteinuria, Pancreatitis |
OMIM:619471 |
Lujo Hemorrhagic Fever |
|
Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein ... |
ORPHA:319213 |
Shigellosis |
|
Hyponatremia, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Urethritis, Abnorma... |
ORPHA:810 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Pollakisuria, Muscular edema, R... |
ORPHA:268 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Zygomycosis |
|
Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton... |
ORPHA:73263 |
Sifrim-Hitz-Weiss Syndrome |
|
Vesicoureteral reflux, Renal insufficiency, Micropenis, Short stature |
OMIM:617159 |
Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria |
OMIM:222448 |
Carney Triad |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Ascites, Anemia |
ORPHA:139411 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... |
ORPHA:79408 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity |
OMIM:619351 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Cantu Syndrome |
|
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Congenital hypertrophy of ... |
OMIM:239850 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Short stature, Hypospadias, Chronic otitis media, Renal... |
ORPHA:261494 |
Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Renal insufficiency, Oliguria |
ORPHA:220393 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Hypoplasia of the thy... |
OMIM:617022 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Short stature, Ectopic kidney, Ventricular septal defect, Cryptorchidis... |
OMIM:122470 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Hydrocele testis, Atrial septal defect, Ascites, Patent fo... |
OMIM:620244 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
Ascites, Chylous |
|
Chylous ascites |
OMIM:208300 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Pneumonia, Myocarditis, Pancreatitis, Hyperkalemia, Oliguria, Hypocalcemia,... |
ORPHA:544482 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Arteriosclerosis, Severe Juvenile |
|
Chronic kidney disease, Short stature, Delayed puberty |
OMIM:208060 |
Listeriosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocarditis, Pyelonep... |
ORPHA:533 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Pustule, Cheilitis, Eosinophil... |
ORPHA:293173 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Renal agenesis, Short stature, Ectopic kidney, Horseshoe kidney, Vesicourete... |
ORPHA:140952 |
Wagro Syndrome |
|
Nephroblastoma, Proteinuria |
OMIM:612469 |
Joubert Syndrome With Oculorenal Defect |
|
Nephropathy, Renal insufficiency |
ORPHA:2318 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Proteinuria, Edema, Myocarditis, Leukocytosis, Cer... |
ORPHA:2331 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Growth delay, Renal insufficiency, Hypoplasia of penis, Vesicoureteral reflux |
ORPHA:96147 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Short stature... |
OMIM:301068 |
Joubert Syndrome With Renal Defect |
|
Nephropathy, Renal insufficiency |
ORPHA:220497 |
Refsum Disease |
|
Renal insufficiency |
ORPHA:773 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal c... |
OMIM:620306 |
Cockayne Syndrome |
|
Neurogenic bladder, Severe short stature, Renal insufficiency, Urinary incontinence, Unilateral r... |
ORPHA:191 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Short stature, Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis, Hypophosphatemic rickets |
OMIM:208000 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Renal insufficiency, Myositis |
ORPHA:764 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... |
OMIM:216360 |
Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Fucosidosis |
|
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria,... |
OMIM:230000 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:615994 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Cranioectodermal Dysplasia 4 |
|
Recurrent pneumonia, Short stature, Stage 5 chronic kidney disease |
OMIM:614378 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:268800 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Renal insufficiency, Short stature, Hypospadias, Rhizomelic leg shortening, Renal cortical cysts,... |
ORPHA:397715 |
Distal Deletion 10Q |
|
Short stature, Postnatal growth retardation, Functional abnormality of the bladder, Horseshoe kid... |
ORPHA:96148 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Short stature, Ventricular septal defect, Cardiomegaly, Pericardial effusi... |
ORPHA:363705 |
Pseudo-Torch Syndrome 1 |
|
Renal insufficiency |
OMIM:251290 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Hydrops fetalis, Hep... |
ORPHA:646 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Severe short stature, Recurrent pneumonia, Pyelonephritis, Ur... |
ORPHA:90349 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Postnatal growth retardation, Short stature, Cardiomegaly |
OMIM:613320 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Enuresis, Short stature, Abnormality of the kidney |
ORPHA:459061 |
Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
Pmm2-Cdg |
|
Pericarditis, Proteinuria, Elevated circulating growth hormone concentration, Lymphedema, Pericar... |
ORPHA:79318 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Palpebral edema, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, G... |
OMIM:252500 |
Pure Mitochondrial Myopathy |
|
Recurrent myoglobinuria |
ORPHA:254854 |
Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency, Colitis, Inflammation of the large intestine |
OMIM:203300 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Ureteral atresia, Polycystic kidney dysplasi... |
OMIM:208540 |
Chondrodysplasia, Blomstrand Type |
|
Fetal ascites, Hydrops fetalis, Polyhydramnios |
OMIM:215045 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Hydrocele testis |
OMIM:620014 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Renal insufficiency, Short stature |
OMIM:226980 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Hepatoblastoma, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithias... |
OMIM:130650 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Renal cyst, Cholestasis, Bile duct pro... |
OMIM:261515 |
Giant Cell Arteritis |
|
Hematuria, Arthritis, Renal insufficiency, Pericarditis |
ORPHA:397 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Polyhydramnios, Cardiomegaly, Hepatoblastoma, Vesicoureteral reflux, Nephro... |
ORPHA:116 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Cardiomegaly |
OMIM:619259 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal heart morphology, Right ventricular di... |
ORPHA:2041 |
Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Proteinuria, Ventricular septal defect, Abnormal pulmonary val... |
ORPHA:2162 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Aymé-Gripp Syndrome |
|
Pericarditis, Proteinuria, Short stature, Postnatal growth retardation, Cryptorchidism, Pericardi... |
ORPHA:1272 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Pulmonary edema, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
Sepsis In Premature Infants |
|
Reversible renal failure, Enterocolitis, Oliguria, Elevated circulating C-reactive protein concen... |
ORPHA:90051 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Short stature, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis |
OMIM:181270 |
Cockayne Syndrome A |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Short stature, Cryptorchidism, Splenomegaly, Seve... |
OMIM:216400 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Growth delay, Hyperlipidemia, Stage 5 chronic kidney disease |
OMIM:608612 |
Joubert Syndrome 2 |
|
Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1454 |
Behçet Disease |
|
Glomerulopathy, Renal insufficiency, Myositis, Acne, Increased inflammatory response, Pericarditi... |
ORPHA:117 |
Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Severe short stature, Proteinuria, Postnatal growth retardatio... |
OMIM:133540 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Phimosis, Urinary bladder inflammation, Xerostomia, Hematuria, Pleural effusion, As... |
ORPHA:99921 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Pedal edema, Atrial septal defect, Patent foram... |
ORPHA:439 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... |
ORPHA:904 |
Primary Sjögren Syndrome |
|
Renal insufficiency, Myositis, Chronic active hepatitis, Abnormality of the kidney, Glomeruloneph... |
ORPHA:289390 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
Orofaciodigital Syndrome I |
|
Short stature, Proteinuria, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Hepatic fi... |
OMIM:311200 |
Coccidioidomycosis |
|
Renal insufficiency, Pericarditis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Skin rash... |
ORPHA:228123 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Unilateral renal agenesis, Conjugated hyperbilirubinemia, Postnatal gr... |
OMIM:620305 |
Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Mild postnatal growth retardation, Hydroureter, Unilater... |
ORPHA:90324 |
Erdheim-Chester Disease |
|
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Hydronephrosis |
ORPHA:35687 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Adenoiditis, Recurr... |
ORPHA:581 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Cryptorchidi... |
ORPHA:96191 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Chronic otitis media, Hydronephrosis |
ORPHA:2750 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Parot... |
OMIM:256040 |
Intermediate Uveitis |
|
Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis |
ORPHA:279914 |
Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Postnatal growth retardation, Bronchiectasis, Pyelonephritis, Bladder ... |
ORPHA:90348 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Bone-marrow foam cells, Polyhydramnios, Fetal ascites, Splenomegaly, Jaundice, Sea-... |
OMIM:607625 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Sea-blue histiocytosis, Prolon... |
OMIM:257220 |
Stevens-Johnson Syndrome |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Conjunctivitis, Pancreatitis |
ORPHA:36426 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney disease |
OMIM:267010 |
Cranioectodermal Dysplasia 1 |
|
Rhizomelia, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubu... |
OMIM:218330 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease |
ORPHA:25 |
Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Conjunctivitis, Pancreatitis |
ORPHA:537 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... |
OMIM:610188 |
Autoimmune Lymphoproliferative Syndrome |
|
Renal insufficiency, Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, C... |
ORPHA:3261 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
Scorpion Envenomation |
|
Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Myocarditis, Increa... |
ORPHA:466677 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Shor... |
OMIM:614527 |
Waldenström Macroglobulinemia |
|
Renal insufficiency |
ORPHA:33226 |
Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Rhizomelia, Short stature, Cholangitis, Recurrent pneumonia, Renal cyst, Hyp... |
OMIM:613610 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Short stature, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:614099 |
Lethal Acantholytic Erosive Disorder |
|
Intrauterine growth retardation, Oligohydramnios, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Serotonin Syndrome |
|
Acute kidney injury |
ORPHA:43116 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... |
ORPHA:365 |
Leptospirosis |
|
Pericarditis, Skin rash, Cellular urinary casts, Hepatitis, Uveitis, Hyperproteinemia, Optic neur... |
ORPHA:509 |
Truncus Arteriosus |
|
Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnorm... |
ORPHA:3384 |
Bohring-Opitz Syndrome |
|
Short stature, Cardiomegaly, Annular pancreas, Abnormal cardiac septum morphology, Urinary retent... |
ORPHA:97297 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Short stature, Hypospadias, Renal insufficiency,... |
ORPHA:84 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Rhizomelia, Short stature, Cardiomegaly, Mitral valve prolapse, Atrial sep... |
OMIM:245600 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Rhizomelia, Short stature, Cholangitis, Stage 5 chronic kidney disease, Ren... |
OMIM:266920 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Pulmonary ... |
ORPHA:137675 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Short stature, Hypercalcemia, Abnormal r... |
OMIM:194050 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Prostatitis, Abnormality of the kidney, Cholangitis |
ORPHA:449432 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
Orofaciodigital Syndrome Type 3 |
|
Stage 5 chronic kidney disease |
ORPHA:2752 |
Sarcoidosis |
|
Renal insufficiency, Maculopapular exanthema, Hypercalcemia, Erythema nodosum, Nephrolithiasis, H... |
ORPHA:797 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cryptorchidism, Cardiomegaly |
OMIM:618143 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Peripheral edema, Right ventricular hypertrophy, Abnormality of the h... |
ORPHA:1677 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency |
ORPHA:79430 |
Yunis-Varon Syndrome |
|
Hypospadias, Short stature, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation... |
ORPHA:3472 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Short stature, Acne, Unilateral renal agenesis, Seborrheic ... |
OMIM:188400 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Pedal edema, Abnormal heart morphology, Growth delay, Abnormal cardiac septum morph... |
ORPHA:980 |
Aicardi-Goutières Syndrome |
|
Short stature, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic ly... |
ORPHA:51 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Au-Kline Syndrome |
|
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis |
OMIM:616580 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria |
OMIM:124000 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti... |
ORPHA:227990 |
Degcags Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Pneumonia, Bilateral renal dysplasia, Abnormal r... |
OMIM:619488 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Short stature, Hypospadias, Abnormality of the kidney, ... |
ORPHA:857 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, Cardiomegaly |
ORPHA:2463 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti... |
ORPHA:227982 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Hypospadias, Renal insufficienc... |
ORPHA:199 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, ... |
ORPHA:90340 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Acute Liver Failure |
|
Acute kidney injury, Skin rash, Hepatitis, Hyperammonemia |
ORPHA:90062 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria |
OMIM:616682 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Fetal ascites, Hypocalcemia, Micropenis, P... |
OMIM:619503 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormality of the kidney, Polyhydramnios, Fetal ascites, Abnormality ... |
ORPHA:141127 |
Costello Syndrome |
|
Renal insufficiency, Short stature |
OMIM:218040 |
Townes-Brocks Syndrome 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,... |
OMIM:107480 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,... |
ORPHA:821 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
African Trypanosomiasis |
|
Renal insufficiency, Pericarditis, Urinary incontinence, Keratitis, Myocarditis, Optic neuritis, ... |
ORPHA:3385 |
Floating-Harbor Syndrome |
|
Hypospadias, Short stature, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidne... |
ORPHA:2044 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Chronic kidney disease, Growth delay, Septic arthritis, Recurrent aspir... |
ORPHA:642 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Lymphedema, Cardiomegaly |
ORPHA:79280 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Myositis, Thyroiditis, Keratoconjunctivitis sicca |
ORPHA:79078 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Otitis media, Micropenis, Short stat... |
ORPHA:64 |
Faundes-Banka Syndrome |
|
Cryptorchidism, Intrauterine growth retardation, Fetal ascites, Delayed puberty |
OMIM:619376 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Short stature, Cardiomegaly, Aortic valve calcification, Pleural effu... |
OMIM:182250 |