Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 23/06/2006
Symbol DIR2
Location 12q13.13
Name nephrogenic diabetes insipidus, autosomal
Corresponding gene AQP2
Main clinical features polyuria, polydipsia and dehydratation
Genetic determination autosomal recessive
autosomal dominant
Function/system disorder kidney and urinary tract
Type disease
Gene product
Name aquaporin 2, water channel
Remark(s)