Details of Disease | DrugMAP

General Information of Disease (ID: DISAVUAD)

Disease Name	Mitochondrial complex 4 deficiency, nuclear type 14
Synonyms	MC4DN14; mitochondrial complex IV deficiency, nuclear type 14
Disease Hierarchy	DISP1YY2: Mitochondrial complex IV deficiency, nuclear-type DISAVUAD: Mitochondrial complex 4 deficiency, nuclear type 14
Disease Identifiers	MONDO ID MONDO_0033649 UMLS CUI C5436710 OMIM ID 619058 MedGen ID 1763505

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
COA3	OT4BMIYV	Limited	Unknown	[1]
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References

1	Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. J Med Genet. 2015 Mar;52(3):203-7. doi: 10.1136/jmedgenet-2014-102914. Epub 2015 Jan 20.