hereditary sensory neuropathy type 1D

Term ID

DOID:0070156

Synonyms

• HSN1D

Definition

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. https://www.ncbi.nlm.nih.gov/pubmed/21194679

References

• OMIM:613708

Ontology

Human Disease   ( DOID:0070156 )