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References OMIM Gene GeneReviews HGMD HGNC
last update : 07-11-2012
Symbol DIR1
Location Xq28
Name nephrogenic diabetes insipidus, X-linked
Other name(s) congenital nephrogenic diabetes insipidus
Corresponding gene AVPR2
Other symbol(s) NDI, XNDI, DI1, DIR, CNDI
Main clinical features polyuria, polydipsia and dehydratation, with low or absent AQP2 excretion (Kotnik 2007)
Genetic determination sex linked
Function/system disorder kidney and urinary tract
Type disease
Gene product
Name vasopressin renal V2-type receptor (VR2R)
Gene mutationChromosome rearrangementEffectComments
various types   abnormal protein/loss of function resistance to the antidiuretic action of AVP in the renal tubules and collecting ducts
  deletion haploinsufficiency contiguous gene deletion including AVPR2
Genotype/Phenotype correlations
  • contiguous gene deletion of AVPR2 and ARHGAP4 genes causes nephrogenic diabetes insipidus and intellectual disability PMID: 22965914;;
  • contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus