" /> Anhidrosis, isolated, with normal sweat glands - CISMeF





Preferred Label : Anhidrosis, isolated, with normal sweat glands;

Symbol : ANHD;

CISMeF acronym : ANHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dann-epstein-sohar syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 1,4,5-triphosphate receptor, type 2 gene (ITPR2, 600144.0001);

Laboratory abnormalities : Normal electrolyte levels; Normal S-amylase levels;

Prefixed ID : #106190;

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08/07/2025


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