Charcot-Marie-Tooth disease type 2B
Findings
No curated finding names Charcot-Marie-Tooth disease type 2B 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 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.
Definition from the Mondo Disease Ontology (MONDO:0010949), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
11 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.
- Absent Achilles reflexHPOHP:0003438
- 1 of 1 reported patient
- Decreased compound muscle action potential amplitudeHPOHP:0033383
- 1 of 1 reported patient
- Decreased motor nerve conduction velocityHPOHP:0003431
- 1 of 1 reported patient
- Distal lower limb amyotrophyHPOHP:0008944
- 1 of 1 reported patient
- Distal lower limb muscle weaknessHPOHP:0009053
- 1 of 1 reported patient
- FasciculationsHPO
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.
- RAB7AHGNC:9788
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: Charcot-Marie-Tooth disease type 2B
- Also called
- autosomal dominant Charcot-Marie-Tooth disease type 2BCharcot-Marie-Tooth disease type 2 caused by mutation in RAB7ACharcot-Marie-Tooth disease, type 2BCMT2BHMSN2BRAB7A Charcot-Marie-Tooth disease type 2