Charcot-Marie-Tooth disease type 2A2
Findings
No curated finding names Charcot-Marie-Tooth disease type 2A2 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 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0012231), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
47 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.
- Abnormal foot morphologyHPOHP:0001760
- Very frequent (80% to 99% of cases)
- Absent Achilles reflexHPOHP:0003438
- Very frequent (80% to 99% of cases)
- EMG: chronic denervation signsHPOHP:0003444
- Very frequent (80% to 99% of cases)
- Foot dorsiflexor weaknessHPOHP:0009027
- Very frequent (80% to 99% of cases)
- Sensory axonal neuropathyHPOHP:0003390
- Very frequent (80% to 99% 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.
- MFN2HGNC:16877
- Definitive · ClinGen · Semidominant · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
8 names
Resolves to: Charcot-Marie-Tooth disease type 2A2
- Also called
- Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2Charcot-Marie-Tooth disease type 2A2ACharcot-Marie-Tooth disease, axonal, type 2A2ACMT2A2hereditary motor and sensory neuropathy IIA2HMSN IIA2HMSN2A2MFN2 Charcot-Marie-Tooth disease type 2