Charcot-Marie-Tooth disease axonal type 2CC
Findings
No curated finding names Charcot-Marie-Tooth disease axonal type 2CC yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene.
Definition from the Mondo Disease Ontology (MONDO:0014836), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
17 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.
- Babinski signHPOHP:0003487
- 4 of 4 reported patients
- EMG: neuropathic changesHPOHP:0003445
- 4 of 4 reported patients
- Lower limb amyotrophyHPOHP:0007210
- 4 of 4 reported patients
- Lower limb muscle weaknessHPOHP:0007340
- 4 of 4 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 3 of 4 reported patients
- Upper limb amyotrophyHPOHP:0009129
- 3 of 4 reported patients
- Upper limb muscle weaknessHPO
Show the remaining 5
- Ragged-red muscle fibersHPOHP:0003200
- Rimmed vacuolesHPOHP:0003805
- Sensory axonal neuropathyHPOHP:0003390
- Somatic sensory dysfunctionHPOHP:0003474
- Waddling gaitHPOHP:0002515
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.
- NEFHHGNC:7737
- Definitive · ClinGen · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Charcot-Marie-Tooth disease axonal type 2CC
- Also called
- Charcot-Marie-Tooth disease caused by mutation in NEFHCharcot-Marie-Tooth disease, axonal, type 2ccCMT2CCNEFH Charcot-Marie-Tooth disease