DISEASES

Disease-gene associations mined from literature

Human genes for hereditary sensory neuropathy type 2C

Hereditary sensory neuropathy type 2C [DOID:0070147]

A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37.

Synonyms:  hereditary sensory neuropathy type 2C,  DOID:0070147,  familial sensory neuropathy type 2C,  hereditary sensory neuropathy type IIC,  HSN2C ...