combined oxidative phosphorylation defect type 24
Findings
No curated finding names combined oxidative phosphorylation defect type 24 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 NARS2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014547), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
12 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
- Ragged-red muscle fibersHPOHP:0003200
- 2 of 2 reported patients
- DysarthriaHPOHP:0001260
- 1 of 2 reported patients
- Easy fatigabilityHPOHP:0003388
- 1 of 2 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 2 reported patients
- Mild intellectual disability
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.
- NARS2HGNC:26274
- Definitive · G2P · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: combined oxidative phosphorylation defect type 24
- Also called
- combined oxidative phosphorylation deficiency caused by mutation in NARS2combined oxidative phosphorylation deficiency type 24COXPD24NARS2 combined oxidative phosphorylation deficiency