Charcot-Marie-Tooth disease type 2
MONDO:0018993Mondo
Findings
No curated finding names Charcot-Marie-Tooth disease type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
Definition from the Mondo Disease Ontology (MONDO:0018993), read 2026-09-29. CC BY 4.0.
Genes
3 genes
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.
Where it sits
- A kind of
- Narrower terms (38)
- autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation
- autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
- autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
- autosomal dominant Charcot-Marie-Tooth disease type 2K
- autosomal dominant Charcot-Marie-Tooth disease type 2M
- autosomal dominant Charcot-Marie-Tooth disease type 2W
- Charcot-Marie-Tooth disease axonal type 2C
- Charcot-Marie-Tooth disease axonal type 2CC
- Charcot-Marie-Tooth disease axonal type 2F
- Charcot-Marie-Tooth disease axonal type 2H
- Charcot-Marie-Tooth disease axonal type 2K
- Charcot-Marie-Tooth disease axonal type 2L
- Charcot-Marie-Tooth disease axonal type 2N
- Charcot-Marie-Tooth disease axonal type 2O
- Charcot-Marie-Tooth disease axonal type 2P
- Charcot-Marie-Tooth disease axonal type 2Q
Other names
3 names
Resolves to: Charcot-Marie-Tooth disease type 2
- Also called
- autosomal dominant axonal Charcot-Marie-Tooth diseaseCMT2hereditary motor and sensory neuropathy type 2