Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

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)