Details of Disease

General Information of Disease (ID: DISIT3W8)

• Disease Name: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
• Synonyms: encephalomyopathy, respiratory failure, and lactic acidosis; concentric cardiomyopathy, hypotonia, and lactic acidosis; COXPD3; combined oxidative phosphorylation deficiency 3; TSFM combined oxidative phosphorylation deficiency; combined oxidative phosphorylation deficiency type 3; combined oxidative phosphorylation deficiency caused by mutation in TSFM; fatal mitochondrial disease due to COXPD3
• Definition: Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.
• Disease Hierarchy:
  DISG5MW9: Combined oxidative phosphorylation deficiency
  DISIT3W8: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
• Disease Identifiers:
  MONDO ID: MONDO_0012512
  MESH ID: C566467
  UMLS CUI: C1864840
  OMIM ID: 610505
  MedGen ID: 355842
  Orphanet ID: 168566

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
TSFM	OTP6OKPJ	Strong	Autosomal recessive	[1]

References

• [1] Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet. 2006 Nov;79(5):869-77. doi: 10.1086/508434. Epub 2006 Sep 15.