hereditary sensory and autonomic neuropathy type 1A

Summary

DOID:0070152 - hereditary sensory and autonomic neuropathy type 1A

Disease Ontology 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.

Synonyms: HSAN1A, hereditary sensory and autonomic neuropathy type IA

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: sptlc1

MIM:

MIM:162400 - neuropathy, hereditary sensory and autonomic, type ia; hsan1a

MIM:162400 - neuropathy, hereditary sensory and autonomic, type ia; hsan1a

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), hereditary sensory and autonomic neuropathy type 1 (is_a)