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GTR Home > Conditions/Phenotypes > Hereditary sensory and autonomic neuropathy type 7

Hereditary sensory and autonomic neuropathy type 7

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

Summary

Hereditary sensory and autonomic neuropathy type VII (HSAN7) is characterized by congenital absence of pain sensation resulting in recurrent injuries and self-inflicted wounds. Severe pruritis, intestinal dysmotility, and hyperhydrosis may be present (Woods et al., 2015; Salvatierra et al., 2018). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400). [from OMIM]

Available tests

14 tests are in the database for this condition.

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Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FEPS3, HSAN7, NAV1.9, NaN, PN5, SCN12A, SNS-2, SCN11A
    Summary: sodium voltage-gated channel alpha subunit 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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