combined oxidative phosphorylation defect type 21
Findings
No curated finding names combined oxidative phosphorylation defect type 21 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.
Definition from the Mondo Disease Ontology (MONDO:0014398), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal death
HPO, annotations 2026-09-02
Features
11 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.
- Axial hypotoniaHPOHP:0008936
- 2 of 2 reported patients · Neonatal onset
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HyperalaninemiaHPOHP:0003348
- 1 of 1 reported patient
- HyperprolinemiaHPOHP:0008358
- 1 of 1 reported patient
- Hypoplasia of the corpus callosumHPOHP:0002079
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.
- TARS2HGNC:30740
- Definitive · G2P · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: combined oxidative phosphorylation defect type 21
- Also called
- combined oxidative phosphorylation deficiency caused by mutation in TARS2combined oxidative phosphorylation deficiency type 21COXPD21TARS2 combined oxidative phosphorylation deficiency