Details of Disease

General Information of Disease (ID: DIS4YED2)

• Disease Name: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
• Synonyms: mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 2; mitochondrial Complex 5 (ATP synthase) deficiency, Tmem70 type; 3-MGCA type IV (3-MGCA-4) (formerly); TMEM70-related mitochondrial encephalo-cardio-myopathy; encephalocardiomyopathy, mitochondrial, neonatal, due to ATP synthase deficiency; mitochondrial complex V (ATP synthase) deficiency, nuclear type 2; TMEM70 defect; neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency; mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency; MC5DN2; mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency; mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency
• Definition: A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.
• Disease Hierarchy:
  DISCJSA1: Mitochondrial complex deficiency
  DIS4YED2: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
• Disease Identifiers:
  MONDO ID: MONDO_0013546
  MESH ID: C567528
  UMLS CUI: C3279699
  OMIM ID: 614052
  MedGen ID: 481329
  Orphanet ID: 1194

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
TMEM70	OTLTKYXG	Definitive	Autosomal recessive	[1]

References

• [1] TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet. 2008 Nov;40(11):1288-90. doi: 10.1038/ng.246. Epub 2008 Oct 26.