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GTR Home > Conditions/Phenotypes > Congenital insensitivity to pain-hypohidrosis syndrome

Congenital insensitivity to pain-hypohidrosis syndrome

Synonyms
HSAN VIII; Neuropathy, hereditary sensory and autonomic, type VIII
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Hereditary sensory and autonomic neuropathy type VIII is an autosomal recessive neurologic disorder characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Affected individuals may also have decreased sweating and tear production (summary by Chen et al., 2015). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1A (162400). [from OMIM]

Available tests

7 tests are in the database for this condition.

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Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HSAN8, PFM9, PRDM12
    Summary: PR/SET domain 12

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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