General Information of Disease (ID: DISHGY84)

Disease Name Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Disease Hierarchy
DIS6XNC1: Autosomal dominant intermediate Charcot-Marie-Tooth disease
DISHGY84: Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Disease Identifiers
MONDO ID
MONDO_0017937
UMLS CUI
C4755257
MedGen ID
1650625
Orphanet ID
324585
SNOMED CT ID
778003000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MPZ OTAR2YXH Supportive Autosomal dominant [1]
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References

1 Intermediate Charcot-Marie-Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain. Pain. 2012 Aug;153(8):1763-1768. doi: 10.1016/j.pain.2012.05.015. Epub 2012 Jun 16.