combined oxidative phosphorylation defect type 30
Findings
No curated finding names combined oxidative phosphorylation defect type 30 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 TRMT10C gene.
Definition from the Mondo Disease Ontology (MONDO:0014856), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Neonatal onset
HPO, annotations 2026-09-02
Features
26 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.
- Absent otoacoustic emissionsHPOHP:6000182
- 1 of 1 reported patient
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 2 of 2 reported patients
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 2 of 2 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- Feeding difficulties
Show the remaining 14
- Respiratory failureHPOHP:0002878
- 2 of 2 reported patients
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 1 of 2 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 2 reported patients
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 1 of 2 reported patients
- Elevated lactate:pyruvate ratioHPOHP:0032653
- 1 of 2 reported patients
- Frontal polymicrogyriaHPOHP:0006821
- 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.
- TRMT10CHGNC:26022
- Strong · G2P · Autosomal recessive · 2016
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
Other names
5 names
Resolves to: combined oxidative phosphorylation defect type 30
- Also called
- combined oxidative phosphorylation deficiency 30combined oxidative phosphorylation deficiency caused by mutation in TRMT10Ccombined oxidative phosphorylation deficiency type 30COXPD30TRMT10C combined oxidative phosphorylation deficiency