fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Findings
No curated finding names fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.
Definition from the Mondo Disease Ontology (MONDO:0012512), 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
23 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.
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 2 of 2 reported patients
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 2 of 2 reported patients
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 2 of 2 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 2 of 2 reported patients
- Neonatal hypotonia
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.
- TSFMHGNC:12367
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
- Also called
- combined oxidative phosphorylation deficiency caused by mutation in TSFMcombined oxidative phosphorylation deficiency type 3fatal mitochondrial disease due to COXPD3TSFM combined oxidative phosphorylation deficiency