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GENATLAS PHENOTYPE
last update : 11-01-2010
Symbol NPHP11
Location 8p22.1
Name nephronophthisis 11
Corresponding gene TMEM67
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
  • associated with with liver fibrosis
  • Genetic determination autosomal recessive
    Function/system disorder kidney and urinary tract
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)