Charcot-Marie-Tooth disease X-linked dominant 1
Findings
No curated finding names Charcot-Marie-Tooth disease X-linked dominant 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.
Definition from the Mondo Disease Ontology (MONDO:0010549), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
HPO, annotations 2026-09-02
Features
28 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.
- Decreased motor nerve conduction velocityHPOHP:0003431
- 3 of 3 reported patients
- Decreased number of peripheral myelinated nerve fibersHPOHP:0003380
- 2 of 2 reported patients
- Onion bulb formationHPOHP:0003383
- 2 of 2 reported patients
- Absent Achilles reflexHPOHP:0003438
- 7 of 8 reported patients
- Abnormal nerve conduction velocityHPOHP:0040129
- Very frequent (80% to 99% of cases)
- AreflexiaHPOHP:0001284
- Very frequent (80% to 99% of cases)
- Distal lower limb amyotrophy
Show the remaining 16
- Impaired pain sensationHPOHP:0007328
- Frequent (30% to 79% of cases)
- Frequent fallsHPOHP:0002359
- 4 of 8 reported patients
- Distal sensory impairmentHPOHP:0002936
- 3 of 7 reported patients
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- DysarthriaHPOHP:0001260
- Occasional (5% to 29% of cases)
- Excessive daytime somnolenceHPOHP:0001262
- Occasional (5% to 29% of cases)
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.
- GJB1HGNC:4283
- Definitive · ClinGen · X-linked · 2020
- Definitive · Natera · X-linked · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
20 names
Resolves to: Charcot-Marie-Tooth disease X-linked dominant 1
- Also called
- Charcot Marie Tooth disease X-linked 1Charcot-Marie-Tooth disease type X caused by mutation in GJB1Charcot-Marie-Tooth disease X-linked dominant type 1Charcot-Marie-Tooth disease, X-linked dominant, 1Charcot-Marie-Tooth disease, X-linked dominant, type 1Charcot-Marie-Tooth disease, X-linked, 1Charcot-Marie-Tooth neuropathy X type 1Charcot-Marie-Tooth neuropathy, X-linked, 1Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combinedCharcot-Marie-Tooth peroneal muscular atrophy, X-linkedCMT1XCMT2CMT2, formerlyCMTX