Details of Disease | DrugMAP

General Information of Disease (ID: DIS993DX)

Disease Name	Autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect
Disease Hierarchy	DISXHPKM: Copper metabolism disorder DISCPWH9: Autosomal recessive disease DIS993DX: Autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect
Disease Identifiers	MONDO ID MONDO_0033850 UMLS CUI C5569051 MedGen ID 1800474 Orphanet ID 521411 SNOMED CT ID 1187619001

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
SCO2	OTJQQDRS	Supportive	Autosomal recessive	[1]
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References

1	SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. Brain. 2018 Mar 1;141(3):662-672. doi: 10.1093/brain/awx369.