Details of Disease

General Information of Disease (ID: DIS8YAVJ)

• Disease Name: Combined oxidative phosphorylation defect type 8
• Synonyms: cardiomyopathy, hypertrophic mitochondrial, fatal infantile; combined oxidative phosphorylation deficiency 8; combined oxidative phosphorylation deficiency type 8; COXPD8; AARS2 combined oxidative phosphorylation deficiency; combined oxidative phosphorylation deficiency caused by mutation in AARS2
• Definition: Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.
• Disease Hierarchy:
  DISG5MW9: Combined oxidative phosphorylation deficiency
  DIS8YAVJ: Combined oxidative phosphorylation defect type 8
• Disease Identifiers:
  MONDO ID: MONDO_0013570
  UMLS CUI: C4518839
  OMIM ID: 614096
  MedGen ID: 1377817
  Orphanet ID: 319504
  SNOMED CT ID: 733600007

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
AARS2	OTOB0KSG	Strong	Autosomal recessive	[1]

References

• [1] Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. Am J Hum Genet. 2011 May 13;88(5):635-42. doi: 10.1016/j.ajhg.2011.04.006. Epub 2011 May 5.