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GTR Home > Conditions/Phenotypes > Hereditary sensory and autonomic neuropathy type 6

Hereditary sensory and autonomic neuropathy type 6

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

Summary

Hereditary sensory and autonomic neuropathy type VI (HSAN6) is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012). For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (162400). [from OMIM]

Available tests

18 tests are in the database for this condition.

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Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BP240, BPA, BPAG1, CATX-15, CATX15, D6S1101, DMH, DT, EBS3, EBSB2, HSAN6, MACF2, DST
    Summary: dystonin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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