Charcot-Marie-Tooth disease X-linked dominant 1

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.

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 1, 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, Charcot-Marie-Tooth disease, X-linked, 1, Charcot-Marie-Tooth neuropathy X type 1, Charcot-Marie-Tooth neuropathy, X-linked, 1, Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined, Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, CMT1X, CMT2, CMT2, formerly, CMTX, CMTX 1, CMTX1, GJB1 Charcot-Marie-Tooth disease type X, hereditary motor and sensory neuropathy, X-linked, HMSN, X-linked, X-linked Charcot-Marie-Tooth disease type 1 — per MONDO

Also identified as

• DOID 0110209 per MONDO
• MESH C564446 per MONDO
• NCIT C129068 per MONDO
• OMIM 302800 per MONDO
• OMIM 302900 per MONDO
• Orphanet 101075 per MONDO
• SCTID 763455008 per MONDO
• UMLS C0393808 per MONDO

Affected Organs