Charcot-Marie-Tooth disease recessive intermediate A
Findings
No curated finding names Charcot-Marie-Tooth disease recessive intermediate A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.
Definition from the Mondo Disease Ontology (MONDO:0012014), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile 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.
- AreflexiaHPOHP:0001284
- 6 of 6 reported patients
- Decreased number of large peripheral myelinated nerve fibersHPOHP:0003387
- 2 of 2 reported patients
- Distal sensory impairmentHPOHP:0002936
- 3 of 3 reported patients
- HyporeflexiaHPOHP:0001265
- 6 of 6 reported patients
- Onion bulb formationHPOHP:0003383
- 2 of 2 reported patients
- Peripheral demyelinationHPOHP:0011096
- 2 of 2 reported patients
- Peripheral neuropathyHPO
Show the remaining 1
- HammertoeHPOHP:0001765
- 1 of 6 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.
- GDAP1HGNC:15968
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: Charcot-Marie-Tooth disease recessive intermediate A
- Also called
- autosomal recessive intermediate Charcot-Marie-Tooth disease type ACharcot-Marie-Tooth disease caused by mutation in GDAP1Charcot-Marie-Tooth disease recessive intermediate type ACharcot-Marie-Tooth disease, recessive Intermediate type aCMTRIAGDAP1 Charcot-Marie-Tooth diseaseRI-CMT type ARI-CMTA