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GENATLAS PHENOTYPE

last update : 27/09/2005

Symbol	HYPOCAB
Location	3q21.1
Name	hypocalcemia severe, with Bartter-like syndrome
Corresponding gene	CASR
Main clinical features	nephrocalcinosis, impaired renal function clinical features of Bartter syndrome (see 241200) : decrease in distal tubular fractional chloride reabsorption rate and negative NaCl balance, hypomagnesemia, hypokalemia with metabolic alkalosis, hyperreninemia, and hyperaldosteronemia
Genetic determination	autosomal dominant
Function/system disorder	kidney and urinary tract
Type	disease

Gene product

Name	calcium sensing receptor

Remark(s)