DISEASES

Disease-gene associations mined from literature

Human genes for hereditary sensory neuropathy type 1D

Hereditary sensory neuropathy type 1D [DOID:0070156]

A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q.

Synonyms:  hereditary sensory neuropathy type 1D,  DOID:0070156,  familial sensory neuropathy type 1D,  HSN1D