combined oxidative phosphorylation defect type 17
Findings
No curated finding names combined oxidative phosphorylation defect type 17 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 ELAC2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014190), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset · Death in childhood
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.
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 4 of 4 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 5 of 5 reported patients
- Congestive heart failureHPOHP:0001635
- 3 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 5 reported patients
- HypotoniaHPOHP:0001252
- 3 of 5 reported patients
- Lactic acidosisHPOHP:0003128
- 3 of 5 reported patients
- Intrauterine growth retardationHPO
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.
- ELAC2HGNC:14198
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- 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 17
- Also called
- combined oxidative phosphorylation deficiency caused by mutation in ELAC2combined oxidative phosphorylation deficiency type 17COXPD17ELAC2 combined oxidative phosphorylation deficiency