DISEASES

Disease-gene associations mined from literature

Human genes for hereditary sensory and autonomic neuropathy type 1A

Hereditary sensory and autonomic neuropathy type 1A [DOID:0070152]

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:  hereditary sensory and autonomic neuropathy type 1A,  DOID:0070152,  familial sensory and autonomic neuropathy type 1A,  HSAN1A,  hereditary sensory and autonomic neuropathy type IA ...