Charcot-Marie-Tooth Disease, axonal, type 2GG
Findings
No curated finding names Charcot-Marie-Tooth Disease, axonal, type 2GG yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards.
Definition from the Mondo Disease Ontology (MONDO:0011675), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
13 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.
- EMG: neuropathic changesHPOHP:0003445
- 6 of 7 reported patients
- AreflexiaHPOHP:0001284
- 5 of 6 reported patients
- Gait disturbanceHPOHP:0001288
- 4 of 7 reported patients
- Distal sensory impairmentHPOHP:0002936
- 3 of 6 reported patients
- Pes cavusHPOHP:0001761
- 3 of 7 reported patients
- Foot dorsiflexor weaknessHPOHP:0009027
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.
- GBF1HGNC:4181
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: Charcot-Marie-Tooth Disease, axonal, type 2GG
- Also called
- autosomal dominant intermediate Charcot-Marie-Tooth disease type ACharcot-Marie-Tooth disease dominant intermediate type ACMT2GGCMTDIA