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GENATLAS PHENOTYPE

last update : 03-07-2009

Symbol	SIADH
Location	Xq28
Name	inappropriate secretion of antidiuretic hormone
Corresponding gene	AVPR2
Main clinical features	symptomatic hyponatraemia, intermittent or water load induced-hyponatraemia with unmeasurable circulating AVP concentrations
Genetic determination	autosomal dominant
Function/system disorder	kidney and urinary tract
Type	disease

Remark(s)

activating mutation in the AVPR2 with resultant nephrogenic syndrome of inappropriate antidiuresis (Soule 2008)