Details of Disease

General Information of Disease (ID: DISOFV38)

• Disease Name: Combined oxidative phosphorylation defect type 4
• Synonyms: combined oxidative phosphorylation deficiency 4; combined oxidative phosphorylation deficiency caused by mutation in TUFM; TUFM combined oxidative phosphorylation deficiency; combined oxidative phosphorylation defect type 4; COXPD4; combined oxidative phosphorylation deficiency type 4
• Definition: Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.
• Disease Hierarchy:
  DISG5MW9: Combined oxidative phosphorylation deficiency
  DISOFV38: Combined oxidative phosphorylation defect type 4
• Disease Identifiers:
  MONDO ID: MONDO_0012534
  MESH ID: C565690
  UMLS CUI: C1857682
  OMIM ID: 610678
  MedGen ID: 387884
  Orphanet ID: 254925
  SNOMED CT ID: 766876004

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
TUFM	OT8YMDJJ	Strong	Autosomal recessive	[1]

References

• [1] Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet. 2007 Jan;80(1):44-58. doi: 10.1086/510559. Epub 2006 Nov 15.