Details of Disease

General Information of Disease (ID: DIS00ET9)

• Disease Name: Charcot-Marie-Tooth disease X-linked dominant 6
• Synonyms: CMT6X; Charcot-Marie-Tooth disease, X-linked dominant, 6; Charcot-Marie-Tooth neuropathy, X-linked dominant, 6; Charcot-Marie-Tooth disease, X-linked dominant, type 6; Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant; X-linked Charcot-Marie-Tooth disease type 6; CMTX6; Charcot-Marie-Tooth neuropathy X-linked dominant 6; Charcot-Marie-Tooth disease X-linked dominant type 6
• Definition: X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).|Editor note: check CMT6X synonym, this implies it is a subtype of CMT6
• Disease Hierarchy:
  DISVGD01: Charcot-Marie-Tooth disease type X
  DIS00ET9: Charcot-Marie-Tooth disease X-linked dominant 6
• Disease Identifiers:
  MONDO ID: MONDO_0010479
  UMLS CUI: C3806702
  OMIM ID: 300905
  MedGen ID: 813032
  Orphanet ID: 352675
  SNOMED CT ID: 763347000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PDK3	TTDEQIP	Limited	Genetic Variation	[1]
PDK3	TTDEQIP	Definitive	X-linked	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PDK3	OTCPSTID	Definitive	X-linked	[2]

References

• [1] X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.J Peripher Nerv Syst. 2016 Mar;21(1):45-51. doi: 10.1111/jns.12160.
• [2] 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.