Details of Disease

General Information of Disease (ID: DISPCNGL)

• Disease Name: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
• Synonyms: cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy; CEMCOX1; fatal infantile encephalocardiomyopathy caused by mutation in SCO2; cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; mitochondrial complex IV deficiency, nuclear type 2; cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1; SCO2 fatal infantile encephalocardiomyopathy
• Definition: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene.
• Disease Hierarchy:
  DISOBOCR: Fatal infantile encephalocardiomyopathy
  DISPCNGL: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
• Disease Identifiers:
  MONDO ID: MONDO_0011451
  UMLS CUI: C5399977
  OMIM ID: 604377
  MedGen ID: 1748867

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCO2	OTJQQDRS	Definitive	Autosomal recessive	[1]

References

• [1] Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. Hum Mol Genet. 2000 Mar 22;9(5):795-801. doi: 10.1093/hmg/9.5.795.