Details of Disease

General Information of Disease (ID: DIS2FBXH)

• Disease Name: Combined oxidative phosphorylation defect type 2
• Synonyms: corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidosis; combined oxidative phosphorylation deficiency 2; combined oxidative phosphorylation deficiency caused by mutation in MRPS16; COXPD2; MRPS16 combined oxidative phosphorylation deficiency; combined oxidative phosphorylation deficiency type 2
• Definition: Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.
• Disease Hierarchy:
  DISG5MW9: Combined oxidative phosphorylation deficiency
  DIS2FBXH: Combined oxidative phosphorylation defect type 2
• Disease Identifiers:
  MONDO ID: MONDO_0012510
  MESH ID: C566468
  UMLS CUI: C1864843
  OMIM ID: 610498
  MedGen ID: 400626
  Orphanet ID: 254920
  SNOMED CT ID: 764943000

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
MRPS16	OT3XXKDZ	Supportive	Autosomal recessive	[1]

References

• [1] Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. Ann Neurol. 2004 Nov;56(5):734-8. doi: 10.1002/ana.20282.