Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
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 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Nephrotic Syndrome, Type 19 |
|
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... |
OMIM:618178 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Focal Segmental Glomerulosclerosis 7 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... |
OMIM:614131 |
Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:618176 |
Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... |
OMIM:603965 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Thin glomerular basement membrane, Sensorineural hearing impairment, Hypoalbu... |
OMIM:615244 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616220 |
Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... |
OMIM:615573 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Hyperlipidemia, Nephrotic syndrome, Stage 5 chronic kidney di... |
OMIM:600995 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... |
OMIM:613237 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy |
OMIM:182690 |
Primary Membranoproliferative Glomerulonephritis |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Acute kidney injury, Mic... |
ORPHA:54370 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency |
OMIM:607832 |
Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... |
OMIM:617609 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Sensorineural hearing impairment, Diffuse... |
OMIM:614650 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hyperlipidemia, Anemia, Stage 5 chronic kidney disease, Hypoa... |
OMIM:603278 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... |
OMIM:618349 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... |
OMIM:610725 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Pyloric stenosis, Hypoproteinemia, Hyperlipidemia, Small for gestational a... |
OMIM:256300 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc... |
OMIM:161900 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Polyur... |
OMIM:619468 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... |
OMIM:614196 |
Nephrotic Syndrome, Type 4 |
|
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros... |
OMIM:256370 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
Nephrotic Syndrome, Type 12 |
|
Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ... |
OMIM:616892 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... |
OMIM:137950 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating creatinine con... |
ORPHA:567544 |
Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Hypoalbumine... |
ORPHA:84090 |
Corneal Degeneration, Band-Shaped Spheroid |
|
Corneal degeneration |
OMIM:217520 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy |
OMIM:615523 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:613944 |
Branchiootorenal Syndrome 2 |
|
Renal dysplasia, Renal insufficiency, Hearing impairment |
OMIM:610896 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... |
ORPHA:94088 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... |
OMIM:614817 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy |
OMIM:242530 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney dis... |
OMIM:615862 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... |
OMIM:174000 |
Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Polydipsia, Abnor... |
ORPHA:2260 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Lcat Deficiency |
|
Hemolytic anemia, Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, ... |
ORPHA:650 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag... |
OMIM:619155 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Focal segmental glomerulosclerosis, Dysphagia, Nephrotic syndrome, Nephropathy, Glomerulopathy, T... |
OMIM:254900 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Cleft palate, High palate, Minimal cha... |
OMIM:616730 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Abnormal circulating lipid concentration, Hematuria, Membranoproliferative gl... |
OMIM:608709 |
Complement Factor H Deficiency |
|
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... |
OMIM:609814 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Senior-Loken Syndrome 1 |
|
Polydipsia, Nephronophthisis, Anemia, Stage 5 chronic kidney disease, Polyuria |
OMIM:266900 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... |
OMIM:616818 |
Tubulointerstitial Nephritis With Uveitis |
|
Reversible renal failure, Anterior uveitis, Panuveitis, Uveitis, Glomerulonephritis, Acute tubulo... |
OMIM:607665 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Nephrotic Syndrome, Type 21 |
|
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
C3 Glomerulopathy |
|
Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... |
ORPHA:329918 |
C3 Glomerulopathy 3 |
|
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis |
OMIM:614809 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency |
ORPHA:2613 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria |
ORPHA:2134 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Renal insufficiency, Optic atrophy, Nephrotic syndrome |
OMIM:249660 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Nephrocalcinosis, Failure to thrive, Hypophosphatemia, Renal phosphate wasting, Me... |
OMIM:616963 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal circ... |
ORPHA:567548 |
Nephrotic Syndrome, Type 14 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Sensorine... |
OMIM:617575 |
Senior-Loken Syndrome 4 |
|
Polydipsia, Nephronophthisis, Anemia, Stage 5 chronic kidney disease, Polyuria |
OMIM:606996 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Stage 5 chron... |
ORPHA:656 |
Hyperprolinemia Type 1 |
|
Prolinuria, Hyperprolinemia, Proteinuria, Nephropathy |
ORPHA:419 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Nephrocalcinosis, Failure to thrive, Hematuria, Decreased glomerular f... |
ORPHA:93598 |
Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, ... |
OMIM:615008 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Cataract 41 |
|
Nuclear cataract, Developmental cataract |
OMIM:116400 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... |
OMIM:602522 |
Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Macrotia, Diffuse mesan... |
OMIM:617730 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:617783 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese... |
OMIM:601198 |
Proteinuria, Chronic Benign |
|
Albuminuria, Proteinuria |
OMIM:618884 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... |
OMIM:601894 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:161950 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Hematuria, Decreased serum creatinine, Acute kidney injury, Re... |
ORPHA:54057 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Neutropenia, Renal cyst, Anemia, Hyperuricemia, Nephropathy, ... |
OMIM:617056 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Failure to thrive, Stage 5 chronic kidney disease, Hyperalaninemia |
OMIM:618250 |
Alport Syndrome |
|
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... |
ORPHA:63 |
Autosomal Dominant Polycystic Kidney Disease |
|
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... |
ORPHA:730 |
Hydroxyprolinemia |
|
Microscopic hematuria, Hydroxyprolinemia |
OMIM:237000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612926 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Hematuria, Benign Familial |
|
Thin glomerular basement membrane, Hematuria |
OMIM:141200 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... |
OMIM:603860 |
Galloway-Mowat Syndrome 5 |
|
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Hearing impairment, Pro... |
OMIM:617731 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Cleft palate, High palate, Minimal cha... |
OMIM:618348 |
Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... |
ORPHA:93126 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Leukopenia, Failure to thrive, Chronic kidney disease, Anemia, Hyperuricemia, Hypom... |
OMIM:613845 |
Systemic Lupus Erythematosus 16 |
|
Nephritis |
OMIM:614420 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nep... |
ORPHA:85450 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Azotemia, Hematur... |
OMIM:104200 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Sensorineural hearing impairment, Proteinuria, Nephropathy |
ORPHA:2820 |
Retinitis Pigmentosa 59 |
|
Sensorineural hearing impairment, Micropenis, Renal insufficiency, Failure to thrive |
OMIM:613861 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia |
OMIM:222100 |
Hypomagnesemia 3, Renal |
|
Polydipsia, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hematuria, Renal calcium... |
OMIM:248250 |
Lesch-Nyhan Syndrome |
|
Anemia, Hematuria, Renal insufficiency, Hyperuricemia |
ORPHA:510 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Renal insufficiency, Nephropathy |
OMIM:614227 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, Ne... |
OMIM:617006 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Renal dysplasia, Recurrent otitis media, Renal cyst, Hearing impairment, Obesity,... |
OMIM:615993 |
Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Polydipsia, Small for gestational age,... |
ORPHA:93101 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits |
ORPHA:69063 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... |
OMIM:613496 |
Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa... |
OMIM:618913 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Obesity, Renal cyst, Abnormality of the kidney |
OMIM:615987 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:136680 |
Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
Preeclampsia |
|
Small for gestational age, Elevated circulating creatinine concentration, Increased body mass ind... |
ORPHA:275555 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Cryofibrinogenemia, Familial Primary |
|
Transient nephrotic syndrome, Hematuria |
OMIM:123540 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... |
OMIM:613090 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chronic kidney disease, Ren... |
ORPHA:228302 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... |
OMIM:256100 |
Cataract 43 |
|
Subcapsular cataract |
OMIM:616279 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Proteinuria, Nephrotic syndrome, Hypoalbuminemia |
OMIM:618347 |
Congenital Primary Megaureter |
|
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... |
ORPHA:617 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Hyperuricemia, Acu... |
ORPHA:79233 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... |
OMIM:615861 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... |
OMIM:301006 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Hematuria, Glomerulonephritis |
OMIM:314000 |
Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Hyper... |
OMIM:143880 |
Renal Glucosuria |
|
Polydipsia, Polyphagia, Enuresis nocturna, Glycosuria, Polyuria |
OMIM:233100 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Hearing impairment |
ORPHA:79087 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polydipsia, Hydronephrosis, Polyuria, Hypokalemia |
OMIM:304900 |
Maternally-Inherited Diabetes And Deafness |
|
Abnormal circulating lipid concentration, Malabsorption, Sensorineural hearing impairment, Glomer... |
ORPHA:225 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Polydipsia, Proximal tubulopathy... |
ORPHA:18 |
Galloway-Mowat Syndrome 10 |
|
Podocyte foot process effacement, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Gout, Nephropathy, Renal insufficiency |
OMIM:162000 |
Angioma, Hereditary Neurocutaneous |
|
Horner syndrome, Hematuria, Gastrointestinal hemorrhage |
OMIM:106070 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Splenomegaly, Nephropathy, Proteinuria |
OMIM:105200 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... |
OMIM:606966 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Neutropenia, Hyperlipidemia, Decreased glomerular filtration ... |
OMIM:232220 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Hereditary Xanthinuria |
|
Hypouricemia, Hydronephrosis, Decreased urinary urate, Hyperxanthinemia, Increased urinary hypoxa... |
ORPHA:3467 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Renal dysplasia, Elevated circulating creatinine concentration, Hearin... |
OMIM:616733 |
Galloway-Mowat Syndrome 9 |
|
Focal segmental glomerulosclerosis, Macrotia, Stage 5 chronic kidney disease, Low-set ears, Hiatu... |
OMIM:619603 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Senior-Loken Syndrome 9 |
|
Nephronophthisis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease |
OMIM:616629 |
Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Hyperlipidemia, Decreased glomerular filtration rate, Nephrol... |
OMIM:232200 |
Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... |
OMIM:602088 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy |
OMIM:602114 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
Bardet-Biedl Syndrome 18 |
|
Obesity, Renal insufficiency |
OMIM:615995 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney disease |
OMIM:618061 |
Cryoglobulinemia, Familial Mixed |
|
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... |
OMIM:123550 |
Fechtner syndrome |
|
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... |
OMIM:153640 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology, Hyperuricemia |
OMIM:609886 |
Lysinuric Protein Intolerance |
|
Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Hyperglycinem... |
ORPHA:470 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613779 |
Cystinuria |
|
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... |
OMIM:220100 |
Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... |
ORPHA:976 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... |
OMIM:203780 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Hypernatremia, Failure to thrive, Megacystis, Polyuria |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Hypernatremia, Failure to thrive, Megacystis, Polyuria |
OMIM:304800 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Dysphagia, Failure to thrive, Abnormal renal physiology... |
OMIM:308940 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysphagia, Failure to thrive in infancy, Tubulointerstitial nephritis, Nephrotic syndrome, Decrea... |
ORPHA:488627 |
Foveal Hypoplasia 1 |
|
Presenile cataracts |
OMIM:136520 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Nephrotic syndrome, Elevated circulating creatine kinase concentration, Glomerular sclerosis, Ane... |
OMIM:607426 |
Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Hyperlipidemia, Hematuria, Decreased glomerular filtration ra... |
OMIM:232240 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Deafness And Myopia |
|
Profound hearing impairment, Conductive hearing impairment, Hematuria, Proteinuria |
OMIM:221200 |
Galloway-Mowat Syndrome 3 |
|
High palate, Nephrotic syndrome, Failure to thrive, Glomerular sclerosis, Stage 5 chronic kidney ... |
OMIM:617729 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Sensorineural hearing impairment, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2668 |
Camos Syndrome |
|
Renal insufficiency, Nephrotic syndrome |
ORPHA:83472 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Abnormality of somatosensory evoked potentials, Spastic/hyperactive bladder, Sensorineural hearin... |
ORPHA:101007 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 42 |
|
Developmental cataract |
OMIM:115900 |
Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Anemia, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:375 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticome... |
OMIM:604387 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypercalcemia, Polyphagia, Episodic hemolytic anemia, Increased blood urea... |
ORPHA:251004 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Leukocytosis, Hyperphosphatemia, Decreased urine output, Tubulointerstitial nephrit... |
ORPHA:340 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Proteinuria |
OMIM:189800 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceride... |
OMIM:245900 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Chronic tubulointerstitial nephritis, Stage 5 chronic kidney disease, Glomerulo... |
OMIM:614376 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Microangiopathic hemolytic anemia, Abnormal renal physiology, Elevated circulatin... |
OMIM:274150 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Orthostatic Hypotension 2 |
|
Decreased glomerular filtration rate |
OMIM:618182 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
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 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paroxysmal vertigo, Conductive hearing impairment, Hypercalcemia, Elevated urinary epinephrine, P... |
ORPHA:276621 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Abnormality of the urinary system, Hematuria, Elevated circulating crea... |
ORPHA:91547 |
Nephronophthisis 20 |
|
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chroni... |
OMIM:613550 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Failure to thrive, Tubulointerstitial fibrosis |
OMIM:263000 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting |
OMIM:618314 |
Senior-Loken Syndrome 3 |
|
Polydipsia, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enure... |
OMIM:606995 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia, Failure to thrive, Hematuria, Weight loss, Nephrolithiasis, Renal i... |
ORPHA:35710 |
Urofacial Syndrome 2 |
|
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... |
OMIM:615112 |
Small Cell Carcinoma Of The Bladder |
|
Recurrent urinary tract infections, Hypercalcemia, Hematuria, Dysuria |
ORPHA:284400 |
Nephronophthisis |
|
Anemia, Renal insufficiency |
ORPHA:655 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Dent Disease 2 |
|
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... |
OMIM:300555 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... |
ORPHA:255249 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... |
OMIM:300971 |
Rhabdoid Tumor |
|
Hypercalcemia, Thrombocytopenia, Hematuria, Weight loss, Anemia, Renal neoplasm |
ORPHA:69077 |
Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Hypercalcemia, Calcinosis, Aminoaciduria, Polydipsia, Failure to thrive, Hypop... |
OMIM:239200 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Bilateral cleft lip and palate, Optic atrophy, Hematuria, Sensorineural hearing impairment |
ORPHA:1473 |
Central Diabetes Insipidus |
|
Hyponatremia, Polydipsia, Failure to thrive, Weight loss, Nocturia |
ORPHA:178029 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia |
OMIM:239350 |
Non-Functioning Paraganglioma |
|
Paroxysmal vertigo, Conductive hearing impairment, Hypercalcemia, Elevated urinary epinephrine, P... |
ORPHA:94080 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Glomerulopathy, Nephroblastoma, Proteinur... |
ORPHA:347 |
Primary Hyperoxaluria Type 3 |
|
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... |
ORPHA:93600 |
Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia |
ORPHA:214 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Hematuria |
OMIM:120433 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Macroscopic hematuria, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyp... |
ORPHA:567546 |
Birk-Landau-Perez Syndrome |
|
Renal insufficiency, Hyperechogenic kidneys, Tubulointerstitial nephritis |
OMIM:617595 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Abnormal renal medulla morphology,... |
ORPHA:439232 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Hematuria, Anemia, Increased blood urea nitro... |
ORPHA:231111 |
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Hematuria, Nephrolithiasis, Nephropathy |
ORPHA:2196 |
Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia |
ORPHA:79327 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Sjogren Syndrome |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis, Tubulointerstitial nephritis |
OMIM:270150 |
Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Microscopic hematuria, Chronic kidney disease, Hyponatremia, Hypocalcemic tetan... |
ORPHA:411634 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal... |
OMIM:260000 |
Glycogen Storage Disease Xi |
|
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... |
OMIM:612933 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia, Nephrocalcinosis, Polydipsia, Failure to thrive, ... |
ORPHA:320 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Hematuria, Elevated circulating creatinine concentration, Anemia, Weight loss, Thro... |
ORPHA:90060 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Sensorineural hearing impairment, Aciduria, Failure to thrive |
OMIM:617950 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Thrombocytosis, Asplenia, Coombs-positive hemolytic anemia, Hematuria, Nephriti... |
OMIM:614034 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Renal insufficiency, Failure to thrive, Hyperammonemia |
ORPHA:28 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Polydipsia, Failure to thrive, Enuresis nocturna, Functional abnormality of the bl... |
ORPHA:223 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricosuria, Renal insufficiency, Hyperuricemia, Acute kidney injury, Uric acid nephrolithias... |
ORPHA:411536 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Anuria, Elevated circulating c... |
OMIM:235400 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Renal salt wasting, Renal sodium wasting, Hypokalemia, Polydipsia, Salt craving, Hypocalciuria, H... |
OMIM:612780 |
Cystinosis |
|
Renal tubular dysfunction, Hypokalemia, Polydipsia, Failure to thrive, Hypophosphatemia, Nephropa... |
ORPHA:213 |
Cednik Syndrome |
|
Optic atrophy, Nephrotic syndrome, Macrotia, Sensorineural hearing impairment, Abnormality of per... |
ORPHA:66631 |
Lowe-Kohn-Cohen Syndrome |
|
Sensorineural hearing impairment, Anorectal anomaly, Nephropathy, Anal atresia |
ORPHA:2408 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Abnormal renal tubule morphology, Nephrot... |
ORPHA:839 |
Nephrosialidosis |
|
Bone-marrow foam cells, Nephropathy, Renal insufficiency, Nephrotic syndrome |
OMIM:256150 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Nephrotic syndrome, EEG with occipital epileptiform discharges, Glomerular sclerosis... |
OMIM:619428 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Esophageal varix, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dysplasia, Absence o... |
OMIM:263200 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hypokalemia, Decreased circulating renin level, Hypercalciuria, Polyuria |
OMIM:613677 |
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Decreased glomerul... |
OMIM:614748 |
Myoglobinuria, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria |
OMIM:160010 |
Glycogen Storage Disease Iv |
|
Failure to thrive, Tubulointerstitial fibrosis, Esophageal varix |
OMIM:232500 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Renal cyst, Stage 5 chronic kidney disease, Micropenis, Obesity, Polyuria |
OMIM:615994 |
Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Focal segmental glomerulosclerosis, High palate, Nephrotic syndrome, Small for ges... |
OMIM:251300 |
Malaria |
|
Anemia, Hyperbilirubinemia, Acute kidney injury, Thrombocytopenia, Elevated circulating C-reactiv... |
ORPHA:673 |
Dent Disease 1 |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephr... |
OMIM:300009 |
Glycogen Storage Disease X |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Normocytic anemia, Nephrotic syndrome, Renovascular hypertension, Membranous neph... |
ORPHA:49041 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricosuria, Sensorineural hearing impairment, Hyperuricemia, Acute kidney injury, Uric acid ... |
ORPHA:411543 |
Galactosemia I |
|
Increased level of galactitol in urine, Galactosuria, Albuminuria, Aminoaciduria |
OMIM:230400 |
Ochoa Syndrome |
|
Hydronephrosis, Polydipsia, Recurrent urinary tract infections, Urinary incontinence, Vesicourete... |
ORPHA:2704 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Aganglionic megacolon, Hyperuricemia, Vesicoureteral reflux, Chronic kidney disea... |
ORPHA:261222 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Pro... |
OMIM:146255 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paroxysmal vertigo, Conductive hearing impairment, Hypercalcemia, Elevated urinary epinephrine, R... |
ORPHA:29072 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Pancreatitis, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Methylmalonic aciduria |
OMIM:251000 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Helix Syndrome |
|
Hypokalemia, Polydipsia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Polyuria, Renal insuffi... |
OMIM:617671 |
Tyrosinemia, Type I |
|
Renal Fanconi syndrome, Hypophosphatemic rickets, Nephrocalcinosis, Failure to thrive, Hypertyros... |
OMIM:276700 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Failure to thrive, Weight loss, Glomerular sclerosis, Stage 5 chronic kidney di... |
OMIM:619487 |
Pierson Syndrome |
|
Hypoproteinemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis,... |
OMIM:609049 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Abnormal intestine morphology, Generalized aminoaciduria, Renal tubular dysfunction, Congenital s... |
OMIM:606528 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto... |
ORPHA:1667 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Hematuria, Renal cyst, Nephropathy |
OMIM:611773 |
Galactosemia Iii |
|
Hypergalactosemia, Failure to thrive, Sensorineural hearing impairment, Aminoaciduria, Galactosuria |
OMIM:230350 |
Xanthinuria, Type I |
|
Xanthinuria, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis |
OMIM:278300 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Focal segmental glomerulosclerosis, Neutropenia, Minim... |
ORPHA:1830 |
Thyrocerebrorenal Syndrome |
|
Nephritis, Renal insufficiency |
ORPHA:3327 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Recurrent urinary ... |
OMIM:613095 |
Nephronophthisis 7 |
|
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:611498 |
Alagille Syndrome 2 |
|
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency |
OMIM:610205 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia, Sensorineural hearing impairment, Hyperuricosuria, Uric acid nephrolithiasis, Rena... |
OMIM:300661 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... |
ORPHA:2364 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, Leuko... |
OMIM:617303 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Gitelman Syndrome |
|
Hypokalemia, Polydipsia, Failure to thrive, Salt craving, Hypocalciuria, Hypomagnesemia, Renal po... |
OMIM:263800 |
Denys-Drash Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropat... |
OMIM:194080 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Cystathioninuria, Methylmalonic a... |
OMIM:277400 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sensorineural hearing impairment, Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... |
OMIM:609129 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dysphagia, Esophageal neoplasm, Morphological abnormality of the gastrointestinal tract, Failure ... |
ORPHA:1018 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Renal duplication, Recurrent urinary tract infections, Recurrent sk... |
ORPHA:33001 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Nephrotic syndrome, Infectious encephali... |
ORPHA:139402 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Increased total bilirubin, Increased body weight |
ORPHA:890 |
Teratoma, Pineal |
|
Polyuria, Polydipsia |
OMIM:273120 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, ... |
OMIM:242900 |
Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
Coach Syndrome 3 |
|
Renal tubular atrophy, Renal interstitial inflammation, Renal interstitial fibrosis, Nephronophth... |
OMIM:619113 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Renal Fanconi syndrome, Reduced hematocrit, Tubulointerstitial nephr... |
ORPHA:91500 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Chronic kidney disease, Inflammatory abnormality of the skin, Peric... |
ORPHA:449395 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Nephrolithiasis |
OMIM:614723 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Optic atrophy, Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentra... |
OMIM:616239 |
East Syndrome |
|
Renal salt wasting, Renal sodium wasting, Hypokalemia, Polydipsia, Salt craving, Hypomagnesemia, ... |
ORPHA:199343 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Nephritis, Arthritis, Malar rash |
OMIM:152700 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy |
ORPHA:1909 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Bardet-Biedl Syndrome 19 |
|
Obesity, Renal insufficiency |
OMIM:615996 |
Bartter Syndrome, Type 3 |
|
Renal salt wasting, Hypokalemia, Increased urinary potassium, Hypocalciuria, Renal potassium wast... |
OMIM:607364 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... |
OMIM:220150 |
Bladder Diverticulum |
|
Urethral sphincter sclerosis, Urinary hesitancy, Hematuria, Dysuria, Recurrent urinary tract infe... |
OMIM:109820 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephritis, Stage 5 chronic kidney d... |
OMIM:301050 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Myocarditis, Tubulointerstitial nephritis, Endocarditis, Myositis, Hematuria, Arthriti... |
ORPHA:183 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis |
OMIM:614582 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chr... |
ORPHA:157 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease |
OMIM:617610 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Pancytopenia, Chronic kidney disease, Hemosiderinuria, Hemolytic... |
ORPHA:447 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Abnormal renal physiology, Elevated circulating creatinine concentration... |
OMIM:223900 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia, Truncal obesity, Obesity, Renal insufficiency |
OMIM:615986 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Increased serum prosta... |
OMIM:601678 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Aminoacidur... |
OMIM:134600 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperamylasemia, Lacticaciduria, Elevated circulating creatine kinase concentration, Hyperglycine... |
OMIM:619386 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydronephrosis, Abnormality of the urinary system, Sensorineural hearing impairment, Abnormality ... |
ORPHA:2838 |
Al Amyloidosis |
|
Dysphagia, Nephrotic syndrome, Weight loss, Anemia, Renal interstitial amyloid deposits, Increase... |
ORPHA:85443 |
Cystinosis, Nephropathic |
|
Renal Fanconi syndrome, Hyponatremia, Generalized aminoaciduria, Dysphagia, Failure to thrive in ... |
OMIM:219800 |
Bartter Syndrome, Type 2, Antenatal |
|
Hypokalemia, Nephrocalcinosis, Increased urinary potassium, Increased serum prostaglandin E2, Hyp... |
OMIM:241200 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Hypouricemia, Nephrocalcinosis, Glycosuria, Large for gestational age, Aminoac... |
OMIM:616026 |
Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Proteinuria, Renal insufficiency, Nephropathy |
OMIM:166300 |
Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration, Glomerular... |
ORPHA:247691 |
Xfe Progeroid Syndrome |
|
Optic atrophy, Cachexia, Hearing impairment, Proteinuria, Renal insufficiency |
OMIM:610965 |
Immunodeficiency 91 And Hyperinflammation |
|
Hemophagocytosis, Nephrotic syndrome, Monocytosis, Failure to thrive, Hemolytic-uremic syndrome, ... |
OMIM:619644 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... |
ORPHA:320401 |
Uremic Pruritus |
|
Hypercalcemia, Stage 5 chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphate... |
ORPHA:94059 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Glomerulonephritis, Renal insufficiency |
OMIM:248760 |
Fanconi Renotubular Syndrome 2 |
|
Generalized aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hypercalciuria, Re... |
OMIM:613388 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Acrorenal Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology |
ORPHA:971 |
Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Senior-Boichis Syndrome |
|
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... |
ORPHA:84081 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Nephrotic syndrome, Hypocholesterolemia, Proximal tubulopathy, Failure to thrive,... |
OMIM:212065 |
Majeed Syndrome |
|
Leukocytosis, Cachexia, Hypochromic microcytic anemia, Failure to thrive, Congenital hypoplastic ... |
ORPHA:77297 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Decreased body mass ind... |
ORPHA:247585 |
Ectopia Lentis Et Pupillae |
|
Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... |
ORPHA:247598 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Glycogen Storage Disease V |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Dark urine |
OMIM:232600 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Immunodeficiency 27A |
|
Leukocytosis, Thrombocytosis, Weight loss, Anemia, Splenomegaly, Hepatosplenomegaly, Hypoalbumine... |
OMIM:209950 |
Muckle-Wells Syndrome |
|
Renal amyloidosis, Hearing impairment, Elevated circulating C-reactive protein concentration, Ren... |
OMIM:191900 |
Granulomatous Slack Skin |
|
Hypercalcemia, Acute kidney injury, Nephrocalcinosis |
ORPHA:33111 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Hepatocellular carcinoma, Nephrocalcinosis, Hyperlipidemia, ... |
ORPHA:79259 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Sensorineural hearing impairment, Proteinuria, Nephrotic syndrome, Nephropathy |
ORPHA:1192 |
Laurence-Moon Syndrome |
|
Abnormal antitragus morphology, Low-set, posteriorly rotated ears, Displacement of the urethral m... |
ORPHA:2377 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Malabsorption, Hyperammonemia, Hyperlysinuria, Hyperlysinemia |
OMIM:238750 |
Autoinflammation With Infantile Enterocolitis |
|
Failure to thrive, Anemia, Splenomegaly, Increased circulating ferritin concentration, Reduced na... |
OMIM:616050 |
Cryoglobulinemic Vasculitis |
|
Hematuria, Splenomegaly, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:91138 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Proximal tubulopathy, Polyuria |
OMIM:560000 |
Liddle Syndrome |
|
Hypokalemia, Renal insufficiency, Nephropathy |
ORPHA:526 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Hydronephrosis, Aplasia of the bladder, Abnormality of the urinary system, Renal dysplasia, Eleva... |
ORPHA:158684 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:220 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Nephritis, Stage 5 chronic kidney disease |
OMIM:609057 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Dysphagia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase concentrat... |
ORPHA:64753 |
Cataract 21, Multiple Types |
|
Microcornea, Cerulean cataract, Cortical pulverulent cataract, Iris coloboma |
OMIM:610202 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
Orotic Aciduria |
|
Hypochromia, Oroticaciduria, Failure to thrive, Hematuria, Orotic acid crystalluria, Anisocytosis... |
OMIM:258900 |
Histidinuria Due To A Renal Tubular Defect |
|
Macrotia, Histidinuria, Impaired histidine renal tubular absorption, Sensorineural hearing impair... |
OMIM:235830 |
Aa Amyloidosis |
|
Nephrotic syndrome, Malabsorption, Acute kidney injury, Nephropathy, Chronic kidney disease, Prot... |
ORPHA:85445 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... |
OMIM:143400 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Macrotia, Histidinuria, Impaired histidine renal tubular absorption, Sensorineural hearing impair... |
ORPHA:2158 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Nephrolithiasis, Hyperuricemia, Hyperuricosuria |
OMIM:300323 |
Renal Coloboma Syndrome |
|
Renal hypoplasia, Renal dysplasia, Optic disc coloboma, Hearing impairment, Multicystic kidney dy... |
ORPHA:1475 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hypokalemia, Polydipsia, Fa... |
ORPHA:411629 |
Urachal Cyst |
|
Leukocytosis, Pyuria, Hematuria, Dysuria, Abscess, Urachus fistula, Elevated circulating C-reacti... |
ORPHA:488 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cystic renal dysplasia, Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Dicarboxyli... |
ORPHA:228308 |
Nephroblastoma |
|
Weight loss, Hematuria, Nephroblastoma |
ORPHA:654 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Neutropenia, Failure to thrive, Anemia, Splenomegaly, Hyperammonemia, Thrombocytopenia, Renal ins... |
ORPHA:79312 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Xanthinuria, Type Ii |
|
Hypouricemia, Renal insufficiency, Nephrolithiasis |
OMIM:603592 |
Argininemia |
|
EEG abnormality, Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia, Renal insufficiency |
OMIM:240150 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Weight loss, Anemia, Splenomegaly, Nephropathy |
ORPHA:100024 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Generalized aminoaciduria, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, ... |
OMIM:251880 |
Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Megaloblastic anemia |
OMIM:261100 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Neutropenia, Anemia, Hyperammonemia, Thrombocytopenia, Renal insuffici... |
ORPHA:289916 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Mucopolysacchariduria, Small for gestational age, Nephrotic syndrome,... |
OMIM:215250 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Megaloblastic anemia |
OMIM:618882 |
Acquired Central Diabetes Insipidus |
|
Weight loss, Pollakisuria, Polydipsia |
ORPHA:95626 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, H... |
ORPHA:47159 |
Alkaptonuria |
|
Decreased glomerular filtration rate, Elevated urinary homogentisic acid, Nephrolithiasis |
OMIM:203500 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Anemia, Increased circulating ferritin concentration, Acute kidney injury, Congenit... |
OMIM:618886 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia, Anemia, Renal hypoplasia/aplasia, Thrombocytopenia, Renal insufficiency |
ORPHA:2123 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Giant platelets, Congenit... |
ORPHA:182050 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Hypernatriuria, Decreased serum creatinine, Decreased circulating renin level |
OMIM:300539 |
Cataract 33, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cortical cataract |
OMIM:611391 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract |
OMIM:611544 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:36234 |
Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Proteinuria, Nephropathy |
ORPHA:1765 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Abnormal renal physiology, Anemia, Splenomegaly, Increased circulating ferritin conc... |
ORPHA:540 |
Hinman Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... |
ORPHA:84085 |
Complement Factor I Deficiency |
|
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... |
OMIM:610984 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney |
ORPHA:459061 |
Pediatric Systemic Lupus Erythematosus |
|
Nephrotic syndrome, Microangiopathic hemolytic anemia, Abnormality of the urinary system, Leukope... |
ORPHA:93552 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia |
ORPHA:88643 |
Amyloidosis, Finnish Type |
|
Renal insufficiency, Nephrotic syndrome |
OMIM:105120 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Hypocomplementemic Urticarial Vasculitis |
|
Hematuria, Sensorineural hearing impairment, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:36412 |
Primary Hyperoxaluria |
|
Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Failure to thrive, A... |
ORPHA:416 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Abnormal circulating leucine concentration, Organic aciduria, Hyper... |
ORPHA:6 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Highly elevated creatine kinase, Dysphagia, Elevated circulating creatine kinase concentration, E... |
ORPHA:368 |
Edict Syndrome |
|
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus |
OMIM:614303 |
Glycogen Storage Disease, Type Ixd |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:300559 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Proteinuria, Abnormality of the kidney, Hyperlipidemia |
ORPHA:369 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Renal insufficiency, Proteinuria, Erysipelas, Renal amyloidosis |
OMIM:134610 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Failure to thrive, Absent brainstem auditory responses, Macrotia, Hearing impairme... |
ORPHA:90321 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Cataract |
OMIM:225740 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Gastrointestinal hemorrhage, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Hereditary Mucoepithelial Dysplasia |
|
Hematuria, Furrowed tongue, Anorectal anomaly, Tracheoesophageal fistula, Abnormality of the bladder |
ORPHA:1839 |
Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency |
ORPHA:254857 |
Avian Influenza |
|
Leukopenia, Elevated circulating creatine kinase concentration, Acute kidney injury, Lymphopenia,... |
ORPHA:454836 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Leishmaniasis |
|
Leukopenia, Weight loss, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemia, P... |
ORPHA:507 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Hypospadias, Hydronephrosis, Orthostatic hypotension, Failure to thrive, Recurrent urinary tract ... |
OMIM:191800 |
Posterior Urethral Valve |
|
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... |
ORPHA:93110 |
Legionnaires Disease |
|