Charcot-Marie-Tooth disease type 2D
Findings
No curated finding names Charcot-Marie-Tooth disease type 2D 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 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.
Definition from the Mondo Disease Ontology (MONDO:0011091), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
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.
- GARS1HGNC:4162
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: Charcot-Marie-Tooth disease type 2D
- Also called
- autosomal dominant Charcot-Marie-Tooth disease type 2DCharcot-Marie-Tooth disease type 2 caused by mutation in GARSCharcot-Marie-Tooth disease, type 2DCMT2DGARS Charcot-Marie-Tooth disease type 2