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References OMIM Gene GeneReviews HGMD HGNC
last update : 25-05-2010
Symbol NPHP9
Location 17p11.2
Name nephronophthisis 9
Corresponding gene NEK8
Main clinical features
  • end-stage renal failure at early age with microcysts on renal biopsy without ocular involvement
  • characterized morphologically by the presence of cortical microcysts and the absence of medullary cysts and typical tubular-basement membrane changes
  • Genetic determination autosomal recessive
    Function/system disorder kidney and urinary tract
    Type disease
    Remark(s) . mutations affect ciliary and centrosomal localization and may cause nephronophthisis (Otto 2008)
  • dysfunction NEK8 may lead to cystogenesis by altering the structure and function of cilia in the distal nephron (Sohara 2008)