Charcot-Marie-Tooth disease type 2E
Findings
No curated finding names Charcot-Marie-Tooth disease type 2E 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 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.
Definition from the Mondo Disease Ontology (MONDO:0011894), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
35 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
- 2 of 2 reported patients
- Distal amyotrophyHPOHP:0003693
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Distal sensory impairmentHPOHP:0002936
- 2 of 2 reported patients
- Gait disturbanceHPOHP:0001288
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Impaired distal vibration sensationHPOHP:0006886
- 2 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.
- NEFLHGNC:7739
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: Charcot-Marie-Tooth disease type 2E
- Also called
- autosomal dominant Charcot-Marie-Tooth disease type 2ECharcot-Marie-Tooth disease type 2 caused by mutation in NEFLCharcot-Marie-Tooth disease, type 2ECMT2ENEFL Charcot-Marie-Tooth disease type 2