hereditary sensory neuropathy type 1F

Term ID

DOID:0070154

Synonyms

hereditary sensory neuropathy type IF
HSN1F

Definition

A hereditary sensory and autonomic neuropathy type 1 characterized by 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 that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/24459106

References

MIM:615632

Ontology

Human Disease ( DOID:0070154 )

Relationships

is a type of: autosomal dominant disease hereditary sensory and autonomic neuropathy type 1

autosomal dominant disease hereditary sensory and autonomic neuropathy type 1 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models