autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Findings
No curated finding names autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.
Definition from the Mondo Disease Ontology (MONDO:0017940), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KIF5AHGNC:6323
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
- Also called
- CMT2 due to KIF5A mutation