Charcot-Marie-Tooth disease type 2A1
Findings
No curated finding names Charcot-Marie-Tooth disease type 2A1 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 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.
Definition from the Mondo Disease Ontology (MONDO:0007308), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset
HPO, annotations 2026-09-02
Features
2 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.
- Peripheral axonal neuropathyHPOHP:0003477
- 2 of 2 reported patients
- Facial palsyHPOHP:0010628
- 1 of 2 reported patients
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.
- KIF1BHGNC:16636
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2024
- Limited · ClinGen · Autosomal dominant · 2026
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
9 names
Resolves to: Charcot-Marie-Tooth disease type 2A1
- Also called
- Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1BCharcot-Marie-Tooth disease type 2ACharcot-Marie-Tooth disease, type 2A1CMT2ACMT2A1hereditary motor and sensory neuropathy IIA1HMSN IIA1HMSN2A1KIF1B Charcot-Marie-Tooth disease type 2