Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

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

Remark(s)

missense mutations diminishes the interaction between RPGRIP1L and nephrocystin-4