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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)