Details of Disease

General Information of Disease (ID: DISX0BGN)

• Disease Name: Combined oxidative phosphorylation defect type 9
• Synonyms: combined oxidative phosphorylation deficiency 9; combined oxidative phosphorylation deficiency caused by mutation in MRPL3; COXPD9; MRPL3 combined oxidative phosphorylation deficiency; combined oxidative phosphorylation deficiency type 9
• Definition: Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.
• Disease Hierarchy:
  DISG5MW9: Combined oxidative phosphorylation deficiency
  DISX0BGN: Combined oxidative phosphorylation defect type 9
• Disease Identifiers:
  MONDO ID: MONDO_0013811
  UMLS CUI: C4706315
  OMIM ID: 614582
  MedGen ID: 1634481
  Orphanet ID: 319509
  SNOMED CT ID: 763209008

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
MRPL3	OT4WV1WL	Strong	Autosomal recessive	[1]

References

• [1] Active-site mutants altering the cooperativity of E. coli phosphofructokinase. Nature. 1990 Feb 8;343(6258):575-6. doi: 10.1038/343575a0.