combined oxidative phosphorylation defect type 26
Findings
No curated finding names combined oxidative phosphorylation defect type 26 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 TRMT5 gene.
Definition from the Mondo Disease Ontology (MONDO:0014684), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset · Young adult onset
HPO, annotations 2026-09-02
Features
39 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.
- CirrhosisHPOHP:0001394
- 2 of 2 reported patients
- Exercise intoleranceHPOHP:0003546
- 2 of 2 reported patients
- Exertional dyspneaHPOHP:0002875
- 2 of 2 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 2 of 2 reported patients
- Lactic acidosisHPOHP:0003128
- 2 of 2 reported patients
- Muscle weaknessHPOHP:0001324
- 2 of 2 reported patients
- SpasticityHPOHP:0001257
Show the remaining 27
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 2 reported patients
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 1 of 2 reported patients
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 1 of 2 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 2 reported patients
- Difficulty standingHPOHP:0003698
- 1 of 2 reported patients
- DyspneaHPOHP:0002094
- 1 of 2 reported patients
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.
- TRMT5HGNC:23141
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: combined oxidative phosphorylation defect type 26
- Also called
- combined oxidative phosphorylation deficiency caused by mutation in TRMT5combined oxidative phosphorylation deficiency type 26COXPD26TRMT5 combined oxidative phosphorylation deficiency