Charcot-Marie-Tooth disease axonal type 2C
Findings
No curated finding names Charcot-Marie-Tooth disease axonal type 2C 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 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.
Definition from the Mondo Disease Ontology (MONDO:0011633), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
9 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.
- AreflexiaHPOHP:0001284
- 40 of 42 reported patients
- Distal lower limb amyotrophyHPOHP:0008944
- 39 of 42 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 39 of 42 reported patients
- Proximal upper limb amyotrophyHPOHP:0008948
- 16 of 42 reported patients
- Proximal upper limb muscle weaknessHPOHP:0008997
- 16 of 42 reported patients
- Distal upper limb amyotrophyHPO
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.
- TRPV4HGNC:18083
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: Charcot-Marie-Tooth disease axonal type 2C
- Also called
- autosomal dominant Charcot-Marie-Tooth disease type 2CCharcot-Marie-Tooth disease type 2 caused by mutation in TRPV4CMT2CHMSN2CTRPV4 Charcot-Marie-Tooth disease type 2