combined oxidative phosphorylation defect type 9
Findings
No curated finding names combined oxidative phosphorylation defect type 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0013811), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Death in childhood
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated lactate:pyruvate ratioHPOHP:0032653
- 1 of 1 reported patient
- Elevated serum anion gapHPOHP:0031962
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Hepatic steatosisHPOHP:0001397
- 1 of 1 reported patient
- Hypertrophic cardiomyopathyHPOHP:0001639
- 4 of 4 reported patients · Infantile onset
- 1 of 1 reported patient
- Increased circulating lactate concentration
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MRPL3HGNC:10379
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2019
Where it sits
Other names
4 names
Resolves to: combined oxidative phosphorylation defect type 9
- Also called
- combined oxidative phosphorylation deficiency caused by mutation in MRPL3combined oxidative phosphorylation deficiency type 9COXPD9MRPL3 combined oxidative phosphorylation deficiency