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GTR Home > Conditions/Phenotypes > Neuropathy, hereditary sensory, type 1F

Neuropathy, hereditary sensory, type 1F

Synonyms
HSN IF; Hereditary sensory neuropathy type IF

Summary

Hereditary sensory neuropathy type IF is an autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment (summary by Kornak et al., 2014). For a discussion of genetic heterogeneity of HSN, see HSAN1A (162400). [from OMIM]

Available tests

9 tests are in the database for this condition.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HSN1F, ATL3
    Summary: atlastin GTPase 3

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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