Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 06-10-2021
Symbol NPHL1
Location Xp11.23
Name nephrolithiasis, recessive, with renal failure
Corresponding gene CLCN5
Other symbol(s) XRN
Main clinical features
  • proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency, also been referred to as the 'Dent disease complex'
  • Genetic determination sex linked
    Function/system disorder metabolism/membrane transport
    Type disease
    Gene product
    Name chloride voltage-gated channel 5 (CLCN5)