Charcot-Marie-Tooth disease axonal type 2F
Findings
No curated finding names Charcot-Marie-Tooth disease axonal type 2F 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 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.
Definition from the Mondo Disease Ontology (MONDO:0011687), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Late young adult onset
HPO, annotations 2026-09-02
Features
23 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.
- Distal lower limb amyotrophyHPOHP:0008944
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Distal muscle weaknessHPOHP:0002460
- 7 of 7 reported patients
- Upper limb amyotrophyHPOHP:0009129
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Areflexia of lower limbsHPOHP:0002522
- 6 of 7 reported patients
- Pes cavusHPOHP:0001761
- 6 of 7 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.
- HSPB1HGNC:5246
- Definitive · Illumina · Autosomal dominant · 2021
- Definitive · ClinGen · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: Charcot-Marie-Tooth disease axonal type 2F
- Also called
- autosomal dominant Charcot-Marie-Tooth disease type 2FCharcot-Marie-Tooth disease type 2 caused by mutation in HSPB1CMT2FHSPB1 Charcot-Marie-Tooth disease type 2