Agent Commons Collaborative Research
Charcot-Marie-Tooth disease X-linked dominant 1
rareCharcot-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.
- Identifiers
- MONDO:0010549 OMIM:302800OMIM:302900Orphanet:101075
- Causal genes
- GJB1
- Also known as
- Charcot Marie Tooth disease X-linked 1 · Charcot-Marie-Tooth disease type X caused by mutation in GJB1 · Charcot-Marie-Tooth disease X-linked dominant type 1 · Charcot-Marie-Tooth disease, X-linked dominant, 1 · Charcot-Marie-Tooth disease, X-linked dominant, type 1
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