Details of Disease

General Information of Disease (ID: DISC6S1R)

• Disease Name: Charcot-Marie-Tooth disease X-linked dominant 1
• Synonyms: CMT1X; Charcot-Marie-Tooth peroneal muscular atrophy, X-linked; HMSN, X-linked; CMT2, formerly; hereditary motor and sensory neuropathy, X-linked; CMT2; CMTX; Charcot-Marie-Tooth disease, X-linked dominant, 1; CMTX1; Charcot-Marie-Tooth disease, X-linked dominant, type 1; Charcot-Marie-Tooth neuropathy X-linked dominant 1; Charcot-Marie-Tooth disease X-linked dominant 1; CMTX 1; Charcot-Marie-Tooth disease type X caused by mutation in GJB1; GJB1 Charcot-Marie-Tooth disease type X; Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, X-linked dominant; Charcot-Marie-Tooth neuropathy X type 1; Charcot Marie Tooth disease X-linked 1; Charcot-Marie-Tooth neuropathy, X-linked, 1; Charcot-Marie-Tooth disease X-linked dominant type 1; X-linked Charcot-Marie-Tooth disease type 1; Charcot-Marie-Tooth disease, X-linked, 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.
• Disease Hierarchy:
  DISVGD01: Charcot-Marie-Tooth disease type X
  DISC6S1R: Charcot-Marie-Tooth disease X-linked dominant 1
• Disease Identifiers:
  MONDO ID: MONDO_0010549
  MESH ID: C535919
  UMLS CUI: C0393808
  OMIM ID: 302800
  MedGen ID: 98290
  Orphanet ID: 101075
  SNOMED CT ID: 763455008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RNMT	TTG45HY	Limited	Genetic Variation	[1]
DMPK	TTZQTY2	moderate	Genetic Variation	[2]
GJB1	TTSJIRP	Definitive	X-linked	[3]
GJB1	TTSJIRP	Definitive	Genetic Variation	[4]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MPZ	OTAR2YXH	Limited	Genetic Variation	[1]
GJB1	OT0F7OLN	Definitive	X-linked	[3]

References

• [1] Molecular basis of hereditary neuropathies.Phys Med Rehabil Clin N Am. 2001 May;12(2):277-91.
• [2] Myotonic dystrophy type I combined with X-linked dominant Charcot-Marie-Tooth neuropathy.Neurogenetics. 2010 Oct;11(4):425-33. doi: 10.1007/s10048-010-0246-5. Epub 2010 May 5.
• [3] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [4] X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association.J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):187-194. doi: 10.1136/jnnp-2018-319014. Epub 2018 Sep 8.