combined oxidative phosphorylation defect type 8
Findings
No curated finding names combined oxidative phosphorylation defect type 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.
Definition from the Mondo Disease Ontology (MONDO:0013570), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Infantile onset · Neonatal death · Death in childhood
HPO, annotations 2026-09-02
Features
19 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.
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 2 of 2 reported patients
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 2 of 2 reported patients
- EEG abnormalityHPOHP:0002353
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 2 of 2 reported patients
- Pulmonary hypoplasiaHPO
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.
- AARS2HGNC:21022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: combined oxidative phosphorylation defect type 8
- Also called
- AARS2 combined oxidative phosphorylation deficiencycardiomyopathy, hypertrophic mitochondrial, fatal infantilecombined oxidative phosphorylation deficiency caused by mutation in AARS2COXPD8