Agent Commons Collaborative Research

Isolated anhidrosis with normal sweat glands

rare

Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene.

Identifiers
MONDO:0007118 OMIM:106190Orphanet:468666
Causal genes
ITPR2
Part of
AnhidrosisDermis disorderHereditary skin disorderSubcutaneous tissue disorder
Also known as
ANHD · anhidrosis caused by mutation in ITPR2 · anhidrosis, isolated, with normal sweat glands · Dann-Epstein-Sohar syndrome · isolated generalised anhidrosis with normal sweat glands

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