Details of Disease

General Information of Disease (ID: DIS9GQJK)

• Disease Name: Combined oxidative phosphorylation defect type 15
• Synonyms: combined oxidative phosphorylation deficiency 15; combined oxidative phosphorylation deficiency caused by mutation in MTFMT; MTFMT combined oxidative phosphorylation deficiency; COXPD15; combined oxidative phosphorylation deficiency type 15; combined oxidative phosphorylation defect type 15
• Definition: Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.
• Disease Hierarchy:
  DISG5MW9: Combined oxidative phosphorylation deficiency
  DIS9GQJK: Combined oxidative phosphorylation defect type 15
• Disease Identifiers:
  MONDO ID: MONDO_0013987
  UMLS CUI: C4706313
  OMIM ID: 614947
  MedGen ID: 1646555
  Orphanet ID: 319524
  SNOMED CT ID: 763203009

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
MTFMT	OT1OIVJL	Strong	Autosomal recessive	[1]

References

• [1] Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Cell Metab. 2011 Sep 7;14(3):428-34. doi: 10.1016/j.cmet.2011.07.010.