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neuropathy, hereditary sensory, type 2C

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene.
Uniprot Description A neurodegenerative disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0013634:  neuropathy, hereditary sensory, type 2C
UMLS:C3280168: