hereditary sensory and autonomic neuropathy type 1A

Term ID

DOID:0070152

Synonyms

• hereditary sensory and autonomic neuropathy type IA
• HSAN1A

Definition

A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. https://www.ncbi.nlm.nih.gov/pubmed/11242114

References

• OMIM:162400

Ontology

Human Disease   ( DOID:0070152 )