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References OMIM Gene GeneReviews HGMD HGNC
last update : 20/08/07
Symbol NPHP8
Location 16q12.2
Name nephronophtisis 8
Corresponding gene RPGRIP1L
Main clinical features
  • a severe anemia, a polyuria with a defective urinary concentration, and a renal failure occuring at a median age of 19 years . may be associated with hepatic fibrosis and/ or retinitis pigmentosa
  • Genetic determination
    Function/system disorder eye
    kidney and urinary tract
    Type disease
  • missense mutations diminishes the interaction between RPGRIP1L and nephrocystin-4