Charcot-Marie-Tooth disease type 2J
Findings
No curated finding names Charcot-Marie-Tooth disease type 2J 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 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.
Definition from the Mondo Disease Ontology (MONDO:0011903), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset
HPO, annotations 2026-09-02
Features
8 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.
- Recurrent coughing spasmsHPOHP:0033362
- 1 of 1 reported patient
- AreflexiaHPOHP:0001284
- Axonal degeneration/regenerationHPOHP:0003378
- Distal amyotrophyHPOHP:0003693
- Distal muscle weaknessHPOHP:0002460
- Foot dorsiflexor weaknessHPOHP:0009027
- Pes cavusHPOHP:0001761
- Slow pupillary light responseHPOHP:0030211
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.
- MPZHGNC:7225
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: Charcot-Marie-Tooth disease type 2J
- Also called
- Charcot-Marie-Tooth disease, type 2JCMT2J