DISEASES

Disease-gene associations mined from literature

Human genes for hereditary sensory and autonomic neuropathy type 5

Hereditary sensory and autonomic neuropathy type 5 [DOID:0070145]

A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13.

Synonyms:  hereditary sensory and autonomic neuropathy type 5,  DOID:0070145,  familial sensory and autonomic neuropathy type 5,  hereditary sensory and autonomic neuropathy type V,  HSAN5 ...