You are using an outdated browser. Please upgrade your browser to improve your experience.

neuropathy, hereditary sensory, type 1D

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q.
Uniprot Description A disease characterized by adult-onset distal axonal sensory neuropathy leading to mutilating ulcerations as well as hyporeflexia. Some patients may show features suggesting upper neuron involvement.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0013381:  neuropathy, hereditary sensory, type 1D
UMLS:C3150972: