Details of Disease | DrugMAP

General Information of Disease (ID: DISW3XTC)

Disease Name	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Synonyms	MMIT; mitochondrial myopathy, infantile, transient; mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency; respiratory chain deficiency, infantile, transient; Cox deficiency myopathy, infantile, transient; benign COX deficiency; mitochondrial myopathy with reversible COX deficiency; reversible infantile cytochrome C oxidase deficiency; mitochondrial myopathy with reversible complex IV deficiency; infantile reversible cytochrome C oxidase deficiency myopathy; reversible infantile respiratory chain deficiency
Disease Hierarchy	DIS9SA7V: Mitochondrial myopathy DISW3XTC: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Disease Identifiers	MONDO ID MONDO_0010780 UMLS CUI C3151898 OMIM ID 500009 MedGen ID 463248 Orphanet ID 254864

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYTB	OTAHB98A	Limited	CausalMutation	[1]
TRMU	OTJ1KXM7	Supportive	Mitochondrial	[2]
COX3	OTNNGBYJ	Strong	CausalMutation	[3]
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References

1	Functional characterization of novel mutations in the human cytochrome b gene.Eur J Hum Genet. 2001 Jul;9(7):510-8. doi: 10.1038/sj.ejhg.5200678.
2	Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. J Med Genet. 2011 Oct;48(10):660-668. doi: 10.1136/jmg.2011.089995.
3	Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.J Med Genet. 2002 Nov;39(11):812-6. doi: 10.1136/jmg.39.11.812.