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GENATLAS PHENOTYPE |
last update : 23-08-2017 |
Symbol | NPHP12 |
Location | 2q24.3 |
Name | nephronophthisis 12 |
Corresponding gene | TTC21B |
Main clinical features | characterized by progressive insidious polyuria due to reduced urinary concentrating ability preceding the decline of renal function and associated with an irregularly thickened tubular basement membrane (TBM), focal interstitial fibrosis, later diffuse tubular-intersitial changes and medullary cystis, leading to renal failure and death in childhood unless treated with dialysis or renal transplantation |
Genetic determination | autosomal recessive |
Related entries | including JBTS11, Joubert syndrome 11 |
Function/system disorder | kidney and urinary tract |
Type | disease |
Remark(s) |