combined oxidative phosphorylation defect type 23
Findings
No curated finding names combined oxidative phosphorylation defect type 23 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 GTPBP3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014525), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Juvenile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
34 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.
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 4 of 4 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 12 of 12 reported patients
- Lactic acidosisHPOHP:0003128
- 12 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 9 of 10 reported patients
- Occasional (5% to 29% of cases)
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 8 of 10 reported patients
- Occasional (5% to 29% of cases)
- Hypertrophic cardiomyopathyHPOHP:0001639
Show the remaining 22
- Congestive heart failureHPOHP:0001635
- 1 of 12 reported patients
- Occasional (5% to 29% of cases)
- CyanosisHPOHP:0000961
- Occasional (5% to 29% of cases)
- Easy fatigabilityHPOHP:0003388
- Occasional (5% to 29% of cases)
- Failure to thriveHPOHP:0001508
- 1 of 12 reported patients
- Occasional (5% to 29% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
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.
- GTPBP3HGNC:14880
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: combined oxidative phosphorylation defect type 23
- Also called
- combined oxidative phosphorylation deficiency caused by mutation in GTPBP3combined oxidative phosphorylation deficiency type 23COXPD23GTPBP3 combined oxidative phosphorylation deficiency