Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Decreased glomerular filtration rate, Hyperuricemia, Nephropathy, Renal tubular atrophy, Nephriti... |
OMIM:162000 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
Polycystic Kidney Disease 5 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... |
OMIM:617610 |
Lcat Deficiency |
|
Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo... |
ORPHA:650 |
Hereditary Renal Hypouricemia |
|
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... |
ORPHA:94088 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Decreased glome... |
OMIM:618061 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal salt wasting, Elevated circulating creatinine concentration, Decreased glomerular filtratio... |
OMIM:174000 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,... |
OMIM:601198 |
Congenital Megacalycosis |
|
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... |
ORPHA:93109 |
Orthostatic Hypotension 2 |
|
Decreased glomerular filtration rate |
OMIM:618182 |
Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... |
ORPHA:730 |
Fanconi Renotubular Syndrome 2 |
|
Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca... |
OMIM:613388 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hematuria, Decreased glomerular filtration rate, Recurrent urinary tract infections, ... |
ORPHA:93598 |
Oligomeganephronia |
|
Abnormal nephron morphology, Elevated circulating creatinine concentration, Decreased glomerular ... |
ORPHA:2260 |
Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinur... |
ORPHA:97362 |
Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... |
OMIM:613496 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal interstitial amyloid deposits, Decreased HDL cholesterol concentration, Hepatomegaly, Decre... |
ORPHA:85450 |
Nephronophthisis 16 |
|
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... |
OMIM:615382 |
Nephronophthisis 3 |
|
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... |
OMIM:604387 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... |
OMIM:613090 |
Glycogen Storage Disease Ia |
|
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi... |
OMIM:232200 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... |
OMIM:602522 |
Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... |
OMIM:602088 |
Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Decreased glomerular filtration rate, Glomerular sclerosis, Nephrotic range ... |
ORPHA:93126 |
Focal Segmental Glomerulosclerosis 6 |
|
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... |
OMIM:614131 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul... |
OMIM:601894 |
Nephrotic Syndrome, Type 7 |
|
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... |
OMIM:615008 |
Glycogen Storage Disease Ib |
|
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemi... |
OMIM:232220 |
Nephrotic Syndrome, Type 26 |
|
Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s... |
OMIM:620049 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... |
OMIM:137950 |
Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd... |
OMIM:617609 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... |
OMIM:601331 |
Primary Membranoproliferative Glomerulonephritis |
|
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro... |
ORPHA:54370 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... |
OMIM:600995 |
Aa Amyloidosis |
|
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... |
ORPHA:85445 |
Hepatorenocardiac Degenerative Fibrosis |
|
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hyperechogenic kidneys, Hepatosplenomega... |
OMIM:619902 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta... |
OMIM:161900 |
Lysinuric Protein Intolerance |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Decreased glomerular ... |
ORPHA:470 |
Distal Renal Tubular Acidosis |
|
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Hypokalem... |
ORPHA:18 |
Renal Dysplasia |
|
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... |
ORPHA:93108 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia,... |
OMIM:613092 |
C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... |
OMIM:614809 |
Hemochromatosis, Type 5 |
|
Abnormal circulating transferrin concentration, Abnormal circulating ceruloplasmin concentration,... |
OMIM:615517 |
Gracile Syndrome |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... |
OMIM:603358 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Tu... |
ORPHA:488627 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Hepatomegaly, Splenomegaly |
OMIM:615285 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hematuria, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemia, Foc... |
OMIM:232240 |
Focal Segmental Glomerulosclerosis 8 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:616032 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... |
OMIM:618270 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... |
OMIM:308990 |
Focal Segmental Glomerulosclerosis 10 |
|
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... |
OMIM:256020 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Increased circu... |
OMIM:620121 |
Nephrotic Syndrome, Type 6 |
|
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... |
OMIM:614196 |
Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... |
OMIM:610725 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... |
OMIM:310468 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Acute tubuloi... |
ORPHA:340 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia |
OMIM:609886 |
Nephrotic Syndrome, Type 22 |
|
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem... |
OMIM:619155 |
Alkaptonuria |
|
Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Nephrolithi... |
OMIM:203500 |
Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries |
ORPHA:90301 |
Nephrotic Syndrome, Type 4 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros... |
OMIM:256370 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Xanthinuria, Type Ii |
|
Xanthinuria, Hypouricemia, Nephrolithiasis, Increased circulating hypoxanthine concentration, Inc... |
OMIM:603592 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren... |
OMIM:614748 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy... |
OMIM:263200 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... |
OMIM:610805 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Abnormal renal tubule... |
ORPHA:839 |
Adenine Phosphoribosyltransferase Deficiency |
|
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... |
OMIM:614723 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Long-chain dicarboxylic acidur... |
OMIM:608836 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal tubular epithelial necrosis, Renal lymphocytic tubulitis, Renal interstitial edema, Decreas... |
ORPHA:91500 |
Multicystic Dysplastic Kidney |
|
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... |
ORPHA:1851 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Increased blood urea nitrogen, Hypercalcemia, Macroscopic hematuria, Proteinuria... |
ORPHA:251004 |
Primary Hyperoxaluria Type 3 |
|
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... |
ORPHA:93600 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Uric aci... |
ORPHA:411536 |
Hypouricemia, Renal, 1 |
|
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... |
OMIM:220150 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... |
OMIM:179800 |
Denys-Drash Syndrome |
|
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... |
OMIM:194080 |
Tyrosinemia, Type I |
|
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Hepatomega... |
OMIM:276700 |
Mucopolysaccharidosis-Plus Syndrome |
|
Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubu... |
OMIM:617303 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Recurrent urinary tract infections, Nephrolithiasis, Ureteral obstruction, Nephroc... |
ORPHA:93599 |
Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Renal Fanconi syn... |
ORPHA:53693 |
Cryoglobulinemia, Familial Mixed |
|
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... |
OMIM:123550 |
Hyperoxaluria, Primary, Type Ii |
|
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency |
OMIM:260000 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... |
ORPHA:79230 |
Diaphanospondylodysostosis |
|
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia |
OMIM:608022 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia |
OMIM:615415 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Hydronephrosis, Urethral atresia |
OMIM:314390 |
Hemochromatosis, Neonatal |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali... |
OMIM:231100 |
Igg4-Related Kidney Disease |
|
Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem... |
ORPHA:449395 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Abnormal renal insterstitial morphology, Impaired renal concentrating ability, Renal insufficienc... |
OMIM:614227 |
Cystinuria |
|
Hyperuricemia, Hematuria, Nephrolithiasis, Renal insufficiency |
ORPHA:214 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Ureteral atresia, Splenomegaly, Renal... |
OMIM:208540 |
Senior-Loken Syndrome 1 |
|
Polyuria, Nephronophthisis, Elevated circulating creatinine concentration, Tubulointerstitial fib... |
OMIM:266900 |
Hyperferritinemia With Or Without Cataract |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Abnormal circulat... |
OMIM:600886 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis |
ORPHA:75563 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Enlarged kidney, Hepatomegaly, Hyperuricemia, Tubulointerstitial fibrosis, ... |
ORPHA:79259 |
Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol... |
OMIM:130650 |
H Syndrome |
|
Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly, Micropenis |
ORPHA:168569 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Hypoalbuminemia, Heavy prot... |
ORPHA:505248 |
Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia |
OMIM:200995 |
Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Enlarged kidney, Increased serum bile acid concentration, Polycystic kidney ... |
ORPHA:731 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis |
OMIM:613091 |
Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
Kaposiform Lymphangiomatosis |
|
Splenomegaly, Enlarged kidney, Hepatosplenomegaly, Multiple renal cysts |
ORPHA:464329 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus |
OMIM:612651 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Mucopolysacchariduria, Spleno... |
OMIM:252500 |
Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Congenital megaureter, Hyperca... |
ORPHA:116 |
Alg9-Cdg |
|
Enlarged kidney, Hepatomegaly, Abnormal renal artery morphology, Ureteral hypoplasia, Hydronephro... |
ORPHA:79328 |
Leprechaunism |
|
Enlarged kidney, Hepatomegaly, Hypokalemia, Long penis, Hypercalciuria, Increased circulating ren... |
ORPHA:508 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia |
ORPHA:500095 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Enlarged kidney |
OMIM:261740 |
Meacham Syndrome |
|
Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Ogden Syndrome |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperbilirubinemia, Global glomerulosclerosis, Card... |
OMIM:300855 |
Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney |
OMIM:306955 |
Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney |
OMIM:615873 |
Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:848 |
Beta-Thalassemia Intermedia |
|
Elevated hepatic iron concentration, Proximal tubulopathy, Abnormality of iron homeostasis |
ORPHA:231222 |
Trichohepatoenteric Syndrome 1 |
|
Abnormality of iron homeostasis, Hypospadias, Galactosuria, Hypergalactosemia, Renal cortical mic... |
OMIM:222470 |
Cardiac-Urogenital Syndrome |
|
Penoscrotal hypospadias, Enlarged kidney, Micropenis, Patent urachus |
OMIM:618280 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... |
ORPHA:465508 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr... |
OMIM:312870 |
Proteus Syndrome |
|
Enlarged kidney, Long penis, Enlarged polycystic ovaries, Renal cyst, Splenomegaly |
ORPHA:744 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:231226 |
Syndromic Diarrhea |
|
Polycystic kidney dysplasia, Abnormality of iron homeostasis, Renal hypoplasia |
ORPHA:84064 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis |
ORPHA:231214 |