combined oxidative phosphorylation deficiency 29
Findings
No curated finding names combined oxidative phosphorylation deficiency 29 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 TXN2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014781), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
29 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.
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Very frequent (80% to 99% of cases)
- Abnormal muscle toneHPOHP:0003808
- Very frequent (80% to 99% of cases)
- Axonal degenerationHPOHP:0040078
- Juvenile onset
- Very frequent (80% to 99% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Very frequent (80% to 99% of cases)
- Decreased activity of mitochondrial complex IHPOHP:0011923
- Very frequent (80% to 99% of cases)
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- Very frequent (80% to 99% of cases)
Show the remaining 17
- Increased circulating lactate concentrationHPOHP:0002151
- Very frequent (80% to 99% of cases)
- Increased CSF lactateHPOHP:0002490
- Very frequent (80% to 99% of cases)
- Increased CSF protein concentrationHPOHP:0002922
- Very frequent (80% to 99% of cases)
- Myoclonic spasmsHPOHP:0003739
- Very frequent (80% to 99% of cases)
- NeurodegenerationHPOHP:0002180
- Very frequent (80% to 99% of cases)
- Optic neuropathyHPOHP:0001138
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.
- TXN2HGNC:17772
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
5 names
Resolves to: combined oxidative phosphorylation deficiency 29
- Also called
- combined oxidative phosphorylation deficiency 29; COXPD29combined oxidative phosphorylation deficiency caused by mutation in TXN2combined oxidative phosphorylation deficiency type 29COXPD29TXN2 combined oxidative phosphorylation deficiency