combined oxidative phosphorylation defect type 27
Findings
No curated finding names combined oxidative phosphorylation defect type 27 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014728), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset
HPO, annotations 2026-09-02
Features
45 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.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 2 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 1 reported patient
- ChoreaHPOHP:0002072
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
Show the remaining 33
- Hearing impairmentHPOHP:0000365
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- HyperammonemiaHPOHP:0001987
- 2 of 2 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Mental deteriorationHPOHP:0001268
- 2 of 2 reported patients
- Microvesicular hepatic steatosisHPOHP:0001414
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.
- CARS2HGNC:25695
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2025
- Moderate · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: combined oxidative phosphorylation defect type 27
- Also called
- CARS2 combined oxidative phosphorylation deficiencycombined oxidative phosphorylation deficiency 27combined oxidative phosphorylation deficiency caused by mutation in CARS2combined oxidative phosphorylation deficiency type 27COXPD27