Details of Disease

General Information of Disease (ID: DIS5R3EL)

• Disease Name: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
• Synonyms: mitochondrial Complex 5 (ATP synthase) deficiency, Atpaf2 type; mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 1; Complex 5 mitochondrial respiratory chain deficiency; mitochondrial complex V deficiency; mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2; mitochondrial complex V (ATP synthase) deficiency, nuclear type 1; ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency; MC5DN1
• Definition: Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.
• Disease Hierarchy:
  DISX6N3H: Mitochondrial proton-transporting ATP synthase complex deficiency
  DISCJSA1: Mitochondrial complex deficiency
  DIS5R3EL: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
• Disease Identifiers:
  MONDO ID: MONDO_0011421
  UMLS CUI: C3276276
  OMIM ID: 604273
  MedGen ID: 477906

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
ATPAF2	OTOMEQX6	Limited	Autosomal recessive	[1]

References

• [1] Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. J Med Genet. 2004 Feb;41(2):120-4. doi: 10.1136/jmg.2003.012047.