Details of Disease

General Information of Disease (ID: DISZ2YBE)

• Disease Name: Combined oxidative phosphorylation defect type 7
• Synonyms: combined oxidative phosphorylation deficiency 7; combined oxidative phosphorylation deficiency type 7; C12orf65 combined oxidative phosphorylation deficiency; severe C12ORF65-related combined oxidative phosphorylation defect; combined oxidative phosphorylation deficiency caused by mutation in C12orf65; C12ORF65 combined oxidative phosphorylation deficiency; severe C12ORF65-related COXPD; COXPD7; combined oxidative phosphorylation deficiency caused by mutation in C12ORF65
• Definition: Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.
• Disease Hierarchy:
  DISG5MW9: Combined oxidative phosphorylation deficiency
  DISZ2YBE: Combined oxidative phosphorylation defect type 7
• Disease Identifiers:
  MONDO ID: MONDO_0013306
  UMLS CUI: C3150801
  OMIM ID: 613559
  MedGen ID: 462151
  Orphanet ID: 254930
  SNOMED CT ID: 763204003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDK2AP1	OTNFOHDJ	Strong	Genetic Variation	[1]
MTRFR	OTG2GU7J	Definitive	Autosomal recessive	[2]

References

• [1] Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.J Neuromuscul Dis. 2015 Oct 7;2(4):409-419. doi: 10.3233/JND-150121.
• [2] Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. J Neuroophthalmol. 2014 Mar;34(1):39-43. doi: 10.1097/WNO.0000000000000076.