Details of Disease

General Information of Disease (ID: DISVGD01)

Disease Name Charcot-Marie-Tooth disease type X
Synonyms X-linked Charcot-Marie-Tooth disease; COWCK; X-linked hereditary motor and sensory neuropathy; CMTX
Definition A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome.
Disease Hierarchy
DIS3BT2L: Charcot marie tooth disease
DIS3PN9X: X-linked disease
DISVGD01: Charcot-Marie-Tooth disease type X
Disease Identifiers
MONDO ID
MONDO_0018994
UMLS CUI
C4551551
MedGen ID
1637021
Orphanet ID
64747
SNOMED CT ID
230552007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GJC2 TTPOCAL moderate Genetic Variation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PRPS1 OTN3A6CN Strong Genetic Variation [2]
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References

1 Gap junction communication in myelinating glia.Biochim Biophys Acta. 2013 Jan;1828(1):69-78. doi: 10.1016/j.bbamem.2012.01.024. Epub 2012 Feb 3.
2 Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.Int J Audiol. 2013 Jan;52(1):23-8. doi: 10.3109/14992027.2012.736032. Epub 2012 Nov 28.