hereditary sensory neuropathy type 2C

Term ID

DOID:0070147

Synonyms

• hereditary sensory and autonomic neuropathy type 2C
• hereditary sensory and autonomic neuropathy type IIC
• hereditary sensory neuropathy type IIC
• HSAN2C
• HSN2C

Definition

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. https://www.ncbi.nlm.nih.gov/pubmed/21820098

References

• MIM:614213
• SNOMEDCT_US_2025_09_01:1254941001
• UMLS_CUI:C5768690

Ontology

Human Disease   ( DOID:0070147 )