Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Focal Segmental Glomerulosclerosis 7 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated circulating cre... |
ORPHA:567544 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... |
OMIM:614196 |
Nephrotic Syndrome, Type 18 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
Nephrotic Syndrome, Type 19 |
|
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... |
OMIM:618178 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... |
OMIM:614131 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:618176 |
Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... |
OMIM:603965 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Bronchiectasis, Elevated circulating creatinine concentration, Stage 5 chronic kidney... |
OMIM:619468 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits |
ORPHA:69063 |
Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... |
OMIM:615573 |
Nephronophthisis 7 |
|
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:611498 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Hyperlipidemia, Nephrotic syndrome, Stage 5 chronic kidney di... |
OMIM:600995 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... |
OMIM:615008 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... |
OMIM:174000 |
Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... |
OMIM:617609 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... |
OMIM:615861 |
Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy |
OMIM:182690 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... |
OMIM:613237 |
Nephronophthisis 20 |
|
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency |
OMIM:607832 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia |
OMIM:266900 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616220 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... |
OMIM:618349 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease, Hypoalbuminem... |
OMIM:603278 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... |
OMIM:161900 |
Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... |
OMIM:614817 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Focal segmental glomerulosclerosis, Dysphagia, Nephrotic syndrome, Nephropathy, Glomerulopathy, P... |
OMIM:254900 |
Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... |
OMIM:610725 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613779 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:606966 |
Senior-Loken Syndrome 4 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia |
OMIM:606996 |
C3 Glomerulopathy 3 |
|
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis |
OMIM:614809 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Abnormal circulating lipid concentration, Hematuria, Membranoproliferative gl... |
OMIM:608709 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot process effacement,... |
OMIM:617006 |
Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:256100 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag... |
OMIM:619155 |
Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Polydipsia, Pelvic kidney, Glomerulome... |
ORPHA:93101 |
C3 Glomerulopathy |
|
Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... |
ORPHA:329918 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:604387 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome |
OMIM:614650 |
Hyperprolinemia Type 1 |
|
Prolinuria, Hyperprolinemia, Proteinuria, Nephropathy |
ORPHA:419 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Reversible renal failure, Anterior uveitis, Panuve... |
OMIM:607665 |
Nephrotic Syndrome, Type 4 |
|
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros... |
OMIM:256370 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... |
OMIM:613496 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
Branchiootorenal Syndrome 2 |
|
Renal dysplasia, Renal insufficiency |
OMIM:610896 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... |
OMIM:137950 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Nephrotic Syndrome, Type 12 |
|
Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ... |
OMIM:616892 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:567548 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci... |
OMIM:616963 |
Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa... |
OMIM:618913 |
Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Polydipsia, Abnor... |
ORPHA:2260 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia |
OMIM:222100 |
Primary Membranoproliferative Glomerulonephritis |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Acute kidney injury, Mic... |
ORPHA:54370 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:656 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... |
OMIM:616730 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Renal insufficiency, Nephropathy |
OMIM:614227 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy |
OMIM:602114 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... |
OMIM:301006 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Glomerular... |
OMIM:256300 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Renal cyst, Gout, Hyperuricemia, Nephropathy, Chronic kidney ... |
OMIM:617056 |
Galloway-Mowat Syndrome 5 |
|
Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:617731 |
C1Q Deficiency |
|
Membranoproliferative glomerulonephritis |
OMIM:613652 |
Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... |
OMIM:602088 |
Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease |
OMIM:617610 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
Renal Glucosuria |
|
Polydipsia, Polyphagia, Enuresis nocturna, Glycosuria, Polyuria |
OMIM:233100 |
Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
Alport Syndrome |
|
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... |
ORPHA:63 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:613944 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency |
ORPHA:2613 |
Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Diffuse mesangial scler... |
OMIM:617730 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Thin glomerular basement membrane, Hypoalbuminemia, Chronic kidney disease, D... |
OMIM:615244 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polydipsia, Hydronephrosis, Polyuria, Hypokalemia |
OMIM:304900 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst, Abnormality of the kidney |
OMIM:615987 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... |
OMIM:616818 |
Hypomagnesemia 3, Renal |
|
Polydipsia, Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolit... |
OMIM:248250 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... |
ORPHA:94088 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Azotemia, Hematur... |
OMIM:104200 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:136680 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis |
OMIM:314000 |
Autosomal Dominant Polycystic Kidney Disease |
|
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... |
ORPHA:730 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Glomerulonephritis, Renal insufficiency |
OMIM:248760 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... |
OMIM:601894 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Pneumonia |
OMIM:247800 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Tub... |
OMIM:602522 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Proteinuria, Nephropathy |
ORPHA:2820 |
Cystinuria |
|
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... |
OMIM:220100 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Hyperalaninemia |
OMIM:618250 |
Ochoa Syndrome |
|
Hydronephrosis, Polydipsia, Recurrent urinary tract infections, Urinary incontinence, Vesicourete... |
ORPHA:2704 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... |
OMIM:614376 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dyspl... |
OMIM:263200 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... |
OMIM:611555 |
Senior-Loken Syndrome 3 |
|
Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enure... |
OMIM:606995 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Gout, Hyperuricemi... |
ORPHA:79233 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Eczema, Minimal change glomerulonephri... |
OMIM:618348 |
Complement Component 4A Deficiency |
|
Glomerulonephritis |
OMIM:614380 |
Proteinuria, Chronic Benign |
|
Albuminuria, Proteinuria |
OMIM:618884 |
Galactosemia I |
|
Hypergalactosemia, Aminoaciduria, Increased level of galactitol in urine, Increased level of gala... |
OMIM:230400 |
Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Hypoalbumine... |
ORPHA:84090 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut... |
OMIM:612926 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chroni... |
OMIM:613550 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology, Hyperuricemia |
OMIM:609886 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Renal dysplasia, Recurrent otitis media, Renal cyst, Renal insufficiency, Abnorma... |
OMIM:615993 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nep... |
ORPHA:85450 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:617783 |
Nephrotic Syndrome, Type 14 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Micropeni... |
OMIM:617575 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:161950 |
Camos Syndrome |
|
Renal insufficiency, Nephrotic syndrome |
ORPHA:83472 |
Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Nephrolithiasis, Infantile hypercalcemia, Hypercalciuria, Polyuria |
OMIM:143880 |
Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... |
OMIM:617805 |
Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Gout, Hyperuricemia, Nephropathy, Renal insufficiency |
OMIM:162000 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... |
ORPHA:93126 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux |
OMIM:618270 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Crescentic glomerulonephritis, Elevated circulating C-reactive protein concentration, Arthritis, ... |
OMIM:616414 |
Complement Factor H Deficiency |
|
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... |
OMIM:609814 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... |
OMIM:143400 |
Urofacial Syndrome 2 |
|
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... |
OMIM:615112 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis... |
OMIM:615862 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
Retinitis Pigmentosa 59 |
|
Micropenis, Renal insufficiency |
OMIM:613861 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Acute kidney injury, Chronic kidney disease, Prote... |
ORPHA:275555 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal insufficiency, Glomerulopathy, Prot... |
ORPHA:347 |
Holzgreve Syndrome |
|
Renal hypoplasia, Renal agenesis |
OMIM:236110 |
Cystinosis |
|
Renal tubular dysfunction, Hypokalemia, Polydipsia, Hypophosphatemia, Nephropathy, Aminoaciduria,... |
ORPHA:213 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency |
OMIM:615995 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hematuria, Proteinuria |
ORPHA:2134 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinuria, Hyperechogenic ... |
OMIM:613845 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyp... |
ORPHA:567546 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia, Nephrocalcinosis, Polydipsia, Abnormal urine sodi... |
ORPHA:320 |
Nephronophthisis 13 |
|
Renal hypoplasia, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Stage 5 chronic kidney disea... |
OMIM:614377 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome |
OMIM:249660 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Abnormal renal medulla morphology,... |
ORPHA:439232 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Polydipsia, Enuresis nocturna, Functional abnormality of the bladder, Hydroureter,... |
ORPHA:223 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Megacystis, Polyuria, Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Megacystis, Polyuria, Hypernatremia |
OMIM:304800 |
Dent Disease 2 |
|
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... |
OMIM:300555 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Elevated circulating creatine kinase concentration, Recurrent myoglobinuria, Glomerular sclerosis... |
OMIM:607426 |
Coach Syndrome 3 |
|
Renal tubular atrophy, Renal interstitial inflammation, Renal interstitial fibrosis, Nephronophth... |
OMIM:619113 |
Juvenile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Hyponatremia, Hypocalcemic tetany, Hypouricemia, Hypokalemia, Polydipsia,... |
ORPHA:411634 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypercalcemia, Polyphagia, Increased blood urea nitrogen, Membranoprolifer... |
ORPHA:251004 |
Central Diabetes Insipidus |
|
Hyponatremia, Nocturia, Polydipsia |
ORPHA:178029 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy |
OMIM:242530 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Nephrotic Syndrome, Type 21 |
|
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Senior-Boichis Syndrome |
|
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... |
ORPHA:84081 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis, Hyperuricosuria, Renal insufficiency, Hyperuricemia, Acute kidney injury, Uric acid ne... |
ORPHA:411536 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Renal cyst, Stage 5 chronic kidney disease, Micropenis, Polyuria |
OMIM:615994 |
Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... |
ORPHA:976 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Renal cortical cysts |
OMIM:617668 |
Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Decreased serum creatinine, Acute kidney injury, Proteinuria, Renal insufficiency |
ORPHA:54057 |
East Syndrome |
|
Renal salt wasting, Renal sodium wasting, Hypokalemia, Polydipsia, Salt craving, Hypomagnesemia, ... |
ORPHA:199343 |
Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia |
OMIM:239350 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Chronic kidney disease, Elevated circulating C-reactive protein con... |
ORPHA:449395 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting |
OMIM:618314 |
Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Proteinuria, Renal insufficiency, Hypertriglyceridemia |
OMIM:245900 |
Teratoma, Pineal |
|
Polyuria, Polydipsia |
OMIM:273120 |
Nephronophthisis 16 |
|
Nephronophthisis, Patent ductus arteriosus, Polycystic kidney dysplasia, Renal insufficiency, Enl... |
OMIM:615382 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Abnormal circulating lipid concentration, Proteinuria, Renal insufficiency |
ORPHA:225 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Abnormal renal tubule morphology, Nephrot... |
ORPHA:839 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... |
OMIM:300971 |
Cryoglobulinemia, Familial Mixed |
|
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... |
OMIM:123550 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Proteinuria |
OMIM:619428 |
Helix Syndrome |
|
Hypokalemia, Polydipsia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Polyuria, Renal insuffi... |
OMIM:617671 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Renal salt wasting, Renal sodium wasting, Hypokalemia, Polydipsia, Salt craving, Hypocalciuria, H... |
OMIM:612780 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy |
ORPHA:1909 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Renal insufficiency, Polyphagia |
OMIM:615986 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... |
ORPHA:228302 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Nephrolithiasis |
OMIM:614723 |
Actinic Prurigo |
|
Cheilitis, Glomerulonephritis, Pyoderma |
OMIM:174770 |
Glycogen Storage Disease Xi |
|
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... |
OMIM:612933 |
Igg4-Related Retroperitoneal Fibrosis |
|
Psoriasiform dermatitis, Hydronephrosis, Deep dermal perivascular inflammatory infiltrate, Nephro... |
ORPHA:49041 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hypokalemia, Decreased circulating renin level, Hypercalciuria, Polyuria |
OMIM:613677 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... |
OMIM:616733 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Membranous nephropathy, Recurrent otitis media, Stage 5 chronic kidney diseas... |
OMIM:615559 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Recurrent urinary ... |
OMIM:613095 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Glu... |
OMIM:231680 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency |
ORPHA:2668 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... |
OMIM:220150 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Polydipsia, Proximal tubulopathy... |
ORPHA:18 |
Myoglobinuria, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria |
OMIM:160010 |
Glycogen Storage Disease X |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Skin rash, Nephropathy, Proteinuria |
OMIM:105200 |
Nephrosialidosis |
|
Nephropathy, Renal insufficiency, Nephrotic syndrome |
OMIM:256150 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Nephritis, Arthritis, Malar rash |
OMIM:152700 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Polydipsia, Renal cell car... |
ORPHA:93111 |
Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Hyperlipidemia, Decreased glomerular filtration rate, Gout, N... |
OMIM:232200 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... |
OMIM:603860 |
Complement Factor I Deficiency |
|
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... |
OMIM:610984 |
Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Hypercalcemia, Calcinosis, Aminoaciduria, Polydipsia, Hypophosphatemia, Hyperc... |
OMIM:239200 |
Immunodeficiency 91 And Hyperinflammation |
|
Nephrotic syndrome, Hemolytic-uremic syndrome, Recurrent pneumonia, Maculopapular exanthema, Memb... |
OMIM:619644 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Gout, Hyperuricemia |
ORPHA:510 |
Joubert Syndrome 4 |
|
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency |
OMIM:609583 |
Galloway-Mowat Syndrome 10 |
|
Podocyte foot process effacement, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hypokalemia, Polydipsia, Ab... |
ORPHA:411629 |
Glycogen Storage Disease Iv |
|
Tubulointerstitial fibrosis |
OMIM:232500 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, H... |
ORPHA:47159 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Hematuria, Serositis, Malar ras... |
ORPHA:231111 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... |
OMIM:274150 |
Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Hyperlipidemia, Decreased glomerular filtration rate, Gout, N... |
OMIM:232220 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... |
ORPHA:2364 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia, Nephrotic syndrome |
OMIM:618999 |
Lcat Deficiency |
|
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Stage 5 chronic ki... |
ORPHA:650 |
Hereditary Xanthinuria |
|
Hypouricemia, Hydronephrosis, Decreased urinary urate, Hyperxanthinemia, Increased urinary hypoxa... |
ORPHA:3467 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Proteinuria, Renal insufficiency, Nephropathy |
OMIM:166300 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis, Elevated urinary no... |
ORPHA:276621 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia |
ORPHA:95626 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Glomerulonephritis, Thyroiditis |
OMIM:619375 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Hyp... |
OMIM:613090 |
Tyrosinemia, Type I |
|
Renal Fanconi syndrome, Hypophosphatemic rickets, Nephrocalcinosis, Hypertyrosinemia, Glomerular ... |
OMIM:276700 |
Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Nephropathy, Chronic kidney disease, Proteinuria, Abnorm... |
ORPHA:85445 |
Acrorenal Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology |
ORPHA:971 |
Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst |
OMIM:614465 |
Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Gout, Arthritis, Hyperuricosuria, Hyperuricemia, Acute kidney injury, Uric acid nephrolithiasis, ... |
ORPHA:411543 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Renal hypoplasia, Patent ductus arteriosus |
OMIM:617661 |
Gitelman Syndrome |
|
Hypokalemia, Polydipsia, Salt craving, Hypocalciuria, Hypomagnesemia, Renal potassium wasting, En... |
OMIM:263800 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Granulomatous Slack Skin |
|
Hypercalcemia, Acute kidney injury, Nephrocalcinosis |
ORPHA:33111 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Hyperuricemia, Vesicoureteral reflux, Chronic kidney disease, Proteinuria, Abnorm... |
ORPHA:261222 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Renal insufficiency, Proteinuria, Erysipelas, Renal amyloidosis |
OMIM:134610 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... |
OMIM:223900 |
Systemic Sclerosis |
|
Myocarditis, Dysphagia, Pericarditis, Elevated circulating creatine kinase concentration, Arthrit... |
ORPHA:90291 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Hypercalcemia, Stage 5 chronic kidney disease, Recurrent sk... |
ORPHA:94059 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Nephrolithiasis, Hypokalemia |
ORPHA:369929 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Pneumonia, Elevated circulating creatinine concentration, Glomerular sclerosis, Skin rash, Nephro... |
ORPHA:247691 |
Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Arthritis, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:375 |
Hyperuricemia, Hprt-Related |
|
Nephrolithiasis, Podagra, Hyperuricemia, Hyperuricosuria, Renal insufficiency |
OMIM:300323 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Anuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome,... |
OMIM:235400 |
Hinman Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... |
ORPHA:84085 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:220 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease |
ORPHA:3156 |
Al Amyloidosis |
|
Dysphagia, Nephrotic syndrome, Renal interstitial amyloid deposits, Increased circulating NT-proB... |
ORPHA:85443 |
Mpdu1-Cdg |
|
Renal cortical cysts |
ORPHA:79323 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Denys-Drash Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropat... |
OMIM:194080 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Aminoacidur... |
OMIM:134600 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... |
OMIM:203780 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Hypouricemia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Proteinuria |
OMIM:616026 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Glomerular sclerosis, Stage 5 chronic kidney disease, Recurrent urinary tract infec... |
OMIM:619487 |
Xanthinuria, Type Ii |
|
Hypouricemia, Renal insufficiency, Nephrolithiasis |
OMIM:603592 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Galloway-Mowat Syndrome 3 |
|
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Hypoalbuminemia, Diffus... |
OMIM:617729 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Hypercalciuria, Hypokalemia |
ORPHA:251274 |
Cednik Syndrome |
|
Proteinuria, Nephrotic syndrome |
ORPHA:66631 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy |
ORPHA:3033 |
Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Hyperlipidemia, Hematuria, Decreased glomerular filtration ra... |
OMIM:232240 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperamylasemia, Lacticaciduria, Elevated circulating creatine kinase concentration, Pancreatitis... |
OMIM:619386 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency |
OMIM:615996 |
Amelogenesis Imperfecta, Type Ig |
|
Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency |
OMIM:204690 |
Malaria |
|
Acute kidney injury, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Fanconi Renotubular Syndrome 2 |
|
Generalized aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hypercalciuria, Re... |
OMIM:613388 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia |
ORPHA:28 |
Bartter Syndrome, Type 3 |
|
Renal salt wasting, Hypokalemia, Increased urinary potassium, Hypocalciuria, Renal potassium wast... |
OMIM:607364 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Increased total bilirubin |
ORPHA:890 |
Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Nephrotic syndrome |
OMIM:242900 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypophosphat... |
ORPHA:99880 |
Cystinosis, Nephropathic |
|
Renal Fanconi syndrome, Hyponatremia, Generalized aminoaciduria, Dysphagia, Polydipsia, Oral-phar... |
OMIM:219800 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Elevated circulating creatine kinase concentration, Focal segmental glomerulosclerosis |
OMIM:616239 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Gout, Hyperuricemia, Hyperuricosuria, Uric acid nephrolithiasis, Renal insufficiency |
OMIM:300661 |
Alagille Syndrome 2 |
|
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency |
OMIM:610205 |
Acrorenal Syndrome, Autosomal Recessive |
|
Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency |
OMIM:201310 |
Arima Syndrome |
|
Renal tubular atrophy, Occipital meningocele, Nephronophthisis, Tubulointerstitial fibrosis, Rena... |
OMIM:243910 |
Bartter Syndrome, Type 2, Antenatal |
|
Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Increased serum prostaglandin E2, Hyp... |
OMIM:241200 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Nephrotic syndrome, Hypoalbuminemia |
OMIM:618347 |
Amyloidosis, Finnish Type |
|
Renal insufficiency, Nephrotic syndrome |
OMIM:105120 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis, Patent ... |
OMIM:617303 |
Joubert Syndrome 5 |
|
Renal cortical cysts, Nephronophthisis, Impaired renal concentrating ability, Stage 5 chronic kid... |
OMIM:610188 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Hyperlipidemia, Nephrocalcinosis, Tubulointerstitial fibrosi... |
ORPHA:79259 |
Parathyroid Carcinoma |
|
Hypercalcemia, Dysphagia, Polydipsia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypophosphat... |
ORPHA:143 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Renal hypoplasia, Elevated circulating creatinine concentration, Renal cyst, Nephrol... |
OMIM:137920 |
Lysinuric Protein Intolerance |
|
Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Hyperglycinem... |
ORPHA:470 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia, Renal insufficiency |
OMIM:240150 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Myocarditis, Infectious encephalitis, Pneumonia, Peritonitis, Elevated circulating cre... |
ORPHA:36234 |
Thyrocerebrorenal Syndrome |
|
Nephritis, Renal insufficiency |
ORPHA:3327 |
Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency |
ORPHA:254857 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Elevated urinary epinephrine, Renal cell carcinoma, Hematuria, Glomerular sclerosi... |
ORPHA:29072 |
Fechtner syndrome |
|
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:153640 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Dent Disease 1 |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephr... |
OMIM:300009 |
Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Pancreatic cysts, Nephronophthisis, Renal corticomedullary cysts, Stage 5 ... |
OMIM:613159 |
Liddle Syndrome |
|
Hypokalemia, Renal insufficiency, Nephropathy |
ORPHA:526 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Decreased circulating renin level, Hypokalemia, Increased urinary potassium |
ORPHA:231580 |
Joubert Syndrome 15 |
|
Nephronophthisis, Micropenis |
OMIM:614464 |
Schimke Immuno-Osseous Dysplasia |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyperlipidemia, Stage 5 ch... |
ORPHA:1830 |
Glycogen Storage Disease V |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Dark urine |
OMIM:232600 |
Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia |
ORPHA:214 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... |
OMIM:260000 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Familial Isolated Hyperparathyroidism |
|
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy... |
ORPHA:99879 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Hydronephrosis, Elevated circulating long chain fatty acid concentration, Patent duc... |
OMIM:214100 |
Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria |
OMIM:261100 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Increased serum prosta... |
OMIM:601678 |
Harrod Syndrome |
|
Hypospadias, Renal cortical microcysts |
OMIM:601095 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Polyuria |
OMIM:560000 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Nephrotic syndrome, Nephropathy |
ORPHA:1192 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Dysphagia, Abnormal renal physiology, Hematuria, Stage ... |
OMIM:308940 |
Simple Cryoglobulinemia |
|
Pericarditis, Nephrotic syndrome, Nephritis, Arthritis, Mesangial hypercellularity, Microscopic h... |
ORPHA:91139 |
Megabladder, Congenital |
|
Fetal megacystis, Stage 5 chronic kidney disease, Patent ductus arteriosus, Hyperechogenic kidney... |
OMIM:618719 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Hydronephrosis, Aplasia of the bladder, Abnormality of the urinary system, Renal dysplasia, Eleva... |
ORPHA:158684 |
Primary Hyperoxaluria Type 2 |
|
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... |
ORPHA:93599 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Chronic kidney disease, Abnormal renal glomerulus morphology, Renal insufficiency, Membranoprolif... |
OMIM:137940 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Renal Coloboma Syndrome |
|
Renal hypoplasia, Renal dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal ins... |
ORPHA:1475 |
Acquired Ichthyosis |
|
Recurrent skin infections, Renal insufficiency |
ORPHA:454 |
Jeune Syndrome |
|
Nephronophthisis, Renal insufficiency, Nephropathy |
ORPHA:474 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal hypoplasia, Renal agenesis |
OMIM:212780 |
Nephronophthisis 19 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:616217 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephrolithiasis, Renal phosphate wastin... |
OMIM:300554 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Highly elevated creatine kinase, Dysphagia, Elevated circulating creatine kinase concentration, E... |
ORPHA:368 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cyst, Renal cortical microcysts |
OMIM:614866 |
Posterior Urethral Valve |
|
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... |
ORPHA:93110 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Sclerosing cholangitis, Fulminant hepatitis, Increased total... |
ORPHA:2137 |
Diffuse Neonatal Hemangiomatosis |
|
Renal hypoplasia/aplasia, Hypercalcemia, Renal insufficiency, Patent ductus arteriosus |
ORPHA:2123 |
Gitelman Syndrome |
|
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Hypokal... |
ORPHA:358 |
Papillorenal Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... |
OMIM:120330 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Decreased urine output, Tubulointerstitial nephritis, Pneumonia,... |
ORPHA:340 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Hematuria, Renal cyst, Nephropathy |
OMIM:611773 |
Glycogen Storage Disease, Type Ixd |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:300559 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Myositis, Exercise-induced myoglobinuria, Dark uri... |
ORPHA:99845 |
Senior-Loken Syndrome 9 |
|
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease |
OMIM:616629 |
Meier-Gorlin Syndrome 8 |
|
Renal hypoplasia |
OMIM:617564 |
Myh9-Related Disease |
|
Renal insufficiency, Nephritis, Proteinuria, Nephropathy |
ORPHA:182050 |
Deafness And Myopia |
|
Hematuria, Proteinuria |
OMIM:221200 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Ectopic kidney, Abnormality of the kidney |
OMIM:613730 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... |
ORPHA:255249 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal hypoplasia, Renal cyst |
OMIM:228940 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level |
OMIM:300539 |
Xfe Progeroid Syndrome |
|
Proteinuria, Renal insufficiency |
OMIM:610965 |
Muckle-Wells Syndrome |
|
Maculopapular exanthema, Recurrent aphthous stomatitis, Elevated circulating C-reactive protein c... |
OMIM:191900 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Renal insufficiency, Pancreatitis, Hyperammonemia |
ORPHA:289916 |
C Syndrome |
|
Renal cortical cysts, Patent ductus arteriosus |
OMIM:211750 |
Wilson Disease |
|
Hyperphosphaturia, High nonceruloplasmin-bound serum copper, Renal tubular dysfunction, Dysphagia... |
OMIM:277900 |
Relapsing Fever |
|
Abnormality of the urinary system, Hematuria, Elevated circulating creatinine concentration, Incr... |
ORPHA:91547 |
Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
Bardet-Biedl Syndrome 4 |
|
Renal cyst, Abnormality of the kidney |
OMIM:615982 |
Senior-Loken Syndrome 8 |
|
Nephronophthisis, Hepatic cysts, Pancreatic cysts |
OMIM:616307 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Pro... |
OMIM:146255 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Proteinuria, Abnormality of the kidney, Hyperlipidemia |
ORPHA:369 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Micropenis, Renal cyst, Penile hypospadias |
ORPHA:1692 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Cholangitis, Polydipsia, Stage 5 chronic kidney disease, Recurrent urinary tract in... |
ORPHA:731 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Hypospadias, Hydronephrosis, Recurrent urinary tract infections, Stage 2 chronic kidney disease, ... |
OMIM:191800 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Erythroderma, Hepatitis, Arthritis, Glomerulonephritis |
OMIM:304790 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria |
OMIM:615605 |
Pierson Syndrome |
|
Hypoproteinemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis,... |
OMIM:609049 |
Erdheim-Chester Disease |
|
Hydronephrosis, Polydipsia, Dysuria, Osteomyelitis, Skin rash, Renal insufficiency |
ORPHA:35687 |
Hyperprolinemia Type 2 |
|
Prolinuria, Dysphagia, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Hype... |
ORPHA:79101 |
Birk-Landau-Perez Syndrome |
|
Hyperechogenic kidneys, Hyperkalemia, Tubulointerstitial nephritis, Renal insufficiency |
OMIM:617595 |
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Decreased glomerul... |
OMIM:614748 |
Lymphatic Filariasis |
|
Nephrotic syndrome, Lymphadenitis, Hematuria, Urethral obstruction, Knee osteoarthritis, Epididym... |
ORPHA:2035 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivasc... |
ORPHA:284426 |
Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis |
ORPHA:99931 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hyperechogenic kidneys, Renal hypoplasia |
OMIM:617914 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Nail-Patella Syndrome |
|
Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency |
OMIM:161200 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria, Elevated circulating creatinine concentration |
ORPHA:90060 |
Dopamine Beta-Hydroxylase Deficiency |
|
Rhinitis, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevated ... |
ORPHA:230 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Renal Fanconi syndrome, Reduced haptoglobin level, Hemoglobinuria, Unconjugated hyperbilirubinemi... |
ORPHA:447 |
Laurence-Moon Syndrome |
|
Displacement of the urethral meatus, Hypoplasia of penis, Renal insufficiency |
ORPHA:2377 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Mucopolysacchariduria, Proteinuria, Nephrotic syndrome |
OMIM:215250 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Decreased urine output, Elevated circulating creatinine concentration, Hyperbilirubinemia, Increa... |
ORPHA:542323 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit... |
ORPHA:157 |
Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephritis, Stage 5 chronic kidney d... |
OMIM:301050 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise |
ORPHA:57 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Tubulointerstitial fibrosis, Recurrent otitis media, Rheumatoid arthritis, Juvenile rh... |
OMIM:607944 |
Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis |
OMIM:618161 |
Galloway-Mowat Syndrome 1 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Hypoalbuminemia, Diffuse mesangial sclero... |
OMIM:251300 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Renal dysplasia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypoalbuminemi... |
OMIM:618183 |
Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Bacterial endocarditis, Elevated circulating C-reactive pro... |
ORPHA:48435 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
Cryoglobulinemic Vasculitis |
|
Keratoconjunctivitis sicca, Hematuria, Arthritis, Glomerulopathy, Viral hepatitis, Proteinuria, R... |
ORPHA:91138 |
Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia |
ORPHA:79327 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia, Hematuria, Nephrolithiasis, Renal insufficiency |
ORPHA:35710 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Proteinuria, Renal insufficiency |
ORPHA:1307 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Eczema, Tubulointerstitial nephritis, Hepatitis, Gastritis, Abnormal ... |
ORPHA:37042 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis |
ORPHA:281090 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Decreased plasma free carnit... |
ORPHA:228308 |
Heme Oxygenase 1 Deficiency |
|
Hematuria, Nephritis, Increased circulating ferritin concentration, Proteinuria, Elevated circula... |
OMIM:614034 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia |
ORPHA:713 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Hypospadias, Renal cortical cysts, Meningocele, Renal dysplasia, Hyperechogenic kidneys, Renal in... |
ORPHA:397715 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:613390 |
Toxic Epidermal Necrolysis |
|
Dysphagia, Polydipsia, Dysuria, Pancreatitis, Abnormality of the urethra, Renal insufficiency, Co... |
ORPHA:537 |
Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Nephrocalcinosis, Nephrolithiasis, Vesicoureteral reflux, Nephroblastoma, E... |
OMIM:130650 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Increased circulating ferritin concentration, Acute kidney injury, Proteinuria |
OMIM:618886 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency |
OMIM:614922 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Hyp... |
OMIM:248190 |
Rhyns Syndrome |
|
Chronic kidney disease, Nephronophthisis, Renal insufficiency |
OMIM:602152 |
Becker Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Abnormal urinary color |
ORPHA:98895 |
Rabson-Mendenhall Syndrome |
|
Hypokalemia, Polydipsia, Long penis, Nephrocalcinosis, Increased C-peptide level |
ORPHA:769 |
Gapo Syndrome |
|
Tubulointerstitial fibrosis |
OMIM:230740 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Proteinuria |
ORPHA:69126 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Pancreatitis, Hyperammonemia |
ORPHA:79312 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Renal cortical cysts, Vesicoureteral reflux |
OMIM:618548 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney disease, Gout |
OMIM:618061 |
Panhypophysitis |
|
Hyponatremia, Hashimoto thyroiditis, Hyposthenuria, Polydipsia |
ORPHA:95513 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Periodontitis, Hydronephrosis |
OMIM:619269 |
Goodpasture Syndrome |
|
Macroscopic hematuria, Cylindruria, Increased blood urea nitrogen, Erythrocyte cylindruria, Glome... |
OMIM:233450 |
Wolfram Syndrome |
|
Polydipsia, Abnormality of the urinary system, Dysuria, Recurrent urinary tract infections, Nephr... |
ORPHA:3463 |
Mu-Heavy Chain Disease |
|
Bence Jones Proteinuria, Nephropathy |
ORPHA:100024 |
Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
Thymoma |
|
Glomerulonephritis, Rheumatoid arthritis, Ulcerative colitis, Myositis |
ORPHA:99867 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent i... |
OMIM:600740 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Polydipsia |
ORPHA:3157 |
Cystic Echinococcosis |
|
Membranous nephropathy, Renal cyst, Hyperbilirubinemia |
ORPHA:400 |
Prune Belly Syndrome |
|
Abnormality of the ureter, Congenital posterior urethral valve, Patent ductus arteriosus, Urogeni... |
ORPHA:2970 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Pancreatitis, Hyperammonemia |
ORPHA:27 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Nephronophthisis, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease, Nephropathy |
OMIM:266920 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysphagia, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate... |
ORPHA:488627 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Renal tubular dysfunction, Glycosuria, Abnormality of the upper urinary tra... |
ORPHA:99885 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Proteinuria, Renal artery stenosis, Nephropathy |
OMIM:209010 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency |
OMIM:173900 |
Xanthinuria, Type I |
|
Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria |
OMIM:278300 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular ... |
ORPHA:3337 |
Joubert Syndrome 7 |
|
Nephronophthisis, Renal cyst |
OMIM:611560 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
Familial Cold Urticaria |
|
Arthritis, Polydipsia, Conjunctivitis |
ORPHA:47045 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Nephrocalcinosis, Hematuria, Decreased glomerular filtration rate, Dys... |
ORPHA:93598 |
Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Proteinuria, Nephropathy |
ORPHA:1765 |
Cockayne Syndrome Type 1 |
|
Uveitis, Increased blood urea nitrogen, Proteinuria, Renal insufficiency, Conjunctivitis |
ORPHA:90321 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proteinuria, Nephropathy |
ORPHA:2774 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hematuria, Arthritis, Uveitis, Inflammatory abnormality of the eye, Skin rash, Glom... |
ORPHA:36412 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Methylmalonic acidemia, Methylmalonic aciduria, Stage 5 chronic kid... |
OMIM:251000 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Highly elevated creatine kinase, Exercise-induced myoglobinuria |
ORPHA:352479 |
Renal Agenesis |
|
Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, U... |
ORPHA:411709 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Cocaine Intoxication |
|
Tubulointerstitial nephritis, Colitis, Elevated circulating creatine kinase concentration, Hematu... |
ORPHA:90068 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Cystathioninuria, Methylmalonic a... |
OMIM:277400 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Transcobalamin Deficiency |
|
Acute kidney injury, Methylmalonic aciduria |
ORPHA:859 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Dysphagia, Urinary bladder sphincter dysfunction, IgA deposition in the glomerulus, Abnormality o... |
ORPHA:79408 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia |
OMIM:600151 |
Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts |
ORPHA:2924 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Increased renal tubular phosphate reabsorption, Calcinosis, Nephrocalcinosis, Decreased renal tub... |
OMIM:211900 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Peritonitis, Anuria, ... |
ORPHA:90038 |
Verheij Syndrome |
|
Renal hypoplasia, Renal agenesis, Renal cyst |
OMIM:615583 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Hypertrophy of the urinary bladder, Renal hypoplasia, Urethral obstruction, Renal dysplasia |
OMIM:601389 |
Glycogen Storage Disease Vii |
|
Gout, Exercise-induced myoglobinuria, Hyperuricemia, Increased total bilirubin |
OMIM:232800 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Alagille Syndrome 1 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Renal tubular acidosis, Renal dysplasia, Mu... |
OMIM:118450 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal dysplasia, Hypoplasia of penis, Renal insufficiency, Renal hypoplasia |
ORPHA:85321 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Nephrolithiasis, Calcium Oxalate |
|
Hyperoxaluria, Acute kidney injury, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... |
OMIM:167030 |
Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
Pediatric Systemic Lupus Erythematosus |
|
Nephrotic syndrome, Myositis, Abnormality of the urinary system, Hematuria, Nephritis, Discoid lu... |
ORPHA:93552 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Elevated circulating creatine kinase concentration, Myoglobinuria |
ORPHA:119 |
Legionnaires Disease |
|
Myocarditis, Hyponatremia, Pericarditis, Infectious encephalitis, Endocarditis, Hematuria, Hepati... |
ORPHA:549 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Hydronephrosis, Renal insufficiency |
OMIM:611209 |
Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
Biliary Malformation With Renal Tubular Insufficiency |
|
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Conjugated hyperbilirubinemia, ... |
OMIM:210550 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... |
OMIM:220110 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Myocarditis, Dysphagia, Tubulointerstitial nephritis, Endocarditis, Myositis, Hematuri... |
ORPHA:183 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Microscopic hematuria, Mild p... |
ORPHA:91500 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Hypospadias, Renal insufficiency, Nephroblastoma, Nephropathy |
OMIM:194072 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Glycosuria, Aminoaciduria, ... |
ORPHA:436271 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Patent ductus arteriosus, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:86818 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Abnormal inflammatory response, Pustule, Synovitis, Acne, O... |
ORPHA:77297 |
Primary Hyperoxaluria Type 3 |
|
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... |
ORPHA:93600 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|