Details of Disease

General Information of Disease (ID: DIS7G7VS)

• Disease Name: Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
• Synonyms: mitochondrial complex V (ATP synthase) deficiency, nuclear type 4; mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 4; mitochondrial Complex 5 (ATP synthase) deficiency, ATP5A1 type; ATP5F1A mitochondrial complex deficiency; MC5DN4B; mitochondrial complex deficiency caused by mutation in ATP5F1A
• Definition: Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene.
• Disease Hierarchy:
  DISCJSA1: Mitochondrial complex deficiency
  DIS0V261: Combined oxidative phosphorylation deficiency 22
  DIS7G7VS: Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
• Disease Identifiers:
  MONDO ID: MONDO_0014091
  UMLS CUI: C3808899
  OMIM ID: 615228
  MedGen ID: 815229

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
ATP5F1A	OT3FZDLX	Strong	Autosomal recessive	[1]

References

• [1] Targeted exome sequencing of suspected mitochondrial disorders. Neurology. 2013 May 7;80(19):1762-70. doi: 10.1212/WNL.0b013e3182918c40. Epub 2013 Apr 17.