Charcot-Marie-tooth disease, axonal, type 2DD
MONDO:0054833Mondo
Findings
No curated finding names Charcot-Marie-tooth disease, axonal, type 2DD yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Juvenile onset · Slowly progressive
HPO, annotations 2026-09-02
Features
10 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
- Distal amyotrophyHPOHP:0003693
- Distal muscle weaknessHPOHP:0002460
- Foot dorsiflexor weaknessHPOHP:0009027
- HyporeflexiaHPOHP:0001265
- Impaired distal vibration sensationHPOHP:0006886
- Muscle spasmHPOHP:0003394
- Pes cavusHPOHP:0001761
- Sensorimotor neuropathyHPOHP:0007141
- Steppage gaitHPOHP:0003376
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.
- ATP1A1HGNC:799
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Ambry Genetics · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2019
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: Charcot-Marie-tooth disease, axonal, type 2DD
- Also called
- CMT2DD