/Charcot-Marie-Tooth disease X-linked dominant 1

Charcot-Marie-Tooth disease X-linked dominant 1

Rare Disease

MONDO:0010549

Also Known As

CMT2CMT2, formerlyCMTXHMSN, X-linkedhereditary motor and sensory neuropathy, X-linkedCMTX 1CMTX1Charcot Marie Tooth disease X-linked 1Charcot-Marie-Tooth disease X-linked dominant 1Charcot-Marie-Tooth disease X-linked dominant type 1Charcot-Marie-Tooth disease type X caused by mutation in GJB1Charcot-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 dominant 1Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, X-linked dominantCharcot-Marie-Tooth neuropathy, X-linked, 1GJB1 Charcot-Marie-Tooth disease type XX-linked Charcot-Marie-Tooth disease type 1CMT1XCharcot-Marie-Tooth peroneal muscular atrophy, X-linked

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.