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GTR Home > Conditions/Phenotypes > Isolated anhidrosis with normal sweat glands

Isolated anhidrosis with normal sweat glands

Synonyms
DANN-EPSTEIN-SOHAR SYNDROME
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Isolated anhidrosis with normal sweat glands (ANHD) is characterized by absence of perspiration and subsequent heat intolerance with normal morphology and number of sweat glands. Teeth, hair, nails, and skin are normal (Klar et al., 2014). [from OMIM]

Available tests

1 test is in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ANHD, CFAP48, INSP3R2, IP3R2, ITPR2
    Summary: inositol 1,4,5-trisphosphate receptor type 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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