autosomal dominant Charcot-Marie-Tooth disease type 2K
Findings
No curated finding names autosomal dominant Charcot-Marie-Tooth disease type 2K 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 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.
Definition from the Mondo Disease Ontology (MONDO:0020558), read 2026-09-29. CC BY 4.0.
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ArrhythmiaHPOHP:0011675
- Frequent (30% to 79% of cases)
- Decreased nerve conduction velocityHPOHP:0000762
- Frequent (30% to 79% of cases)
- Distal muscle weaknessHPOHP:0002460
- Frequent (30% to 79% of cases)
- Distal sensory impairmentHPOHP:0002936
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Hand muscle atrophyHPOHP:0009130
- Frequent (30% to 79% of cases)
- Peripheral demyelinationHPOHP:0011096
- Frequent (30% to 79% of cases)
- Proximal muscle weaknessHPOHP:0003701
- Frequent (30% to 79% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Occasional (5% to 29% of cases)
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.
- GDAP1HGNC:15968
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: autosomal dominant Charcot-Marie-Tooth disease type 2K
- Also called
- Charcot-Marie-Tooth disease type 2KCMT2K