Details of Disease | DrugMAP

General Information of Disease (ID: DISVPP8Z)

Disease Name	Combined oxidative phosphorylation deficiency 53
Synonyms	combined oxidative phosphorylation deficiency due to C2orf69 deficiency; COXPD53
Definition	An autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent hypomyelination.
Disease Hierarchy	DISG5MW9: Combined oxidative phosphorylation deficiency DISVPP8Z: Combined oxidative phosphorylation deficiency 53
Disease Identifiers	MONDO ID MONDO_0030378 UMLS CUI C5543631 OMIM ID 619423 MedGen ID 1779083

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
C2orf69	OTZ4MG1Q	Strong	Autosomal recessive	[1]
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References

1	C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation. J Clin Invest. 2021 Jun 15;131(12):e143078. doi: 10.1172/JCI143078.