cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
Findings
No curated finding names cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene.
Definition from the Mondo Disease Ontology (MONDO:0014667), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
3 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.
- Cardiomyocyte mitochondrial proliferationHPOHP:0031320
- 2 of 2 reported patients
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 1 of 1 reported patient
- Hypertrophic cardiomyopathyHPOHP:0001639
- 2 of 2 reported patients
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.
- COA5HGNC:33848
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Limited · G2P · Autosomal recessive · 2015
Where it sits
Other names
4 names
Resolves to: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
- Also called
- cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3COA5 fatal infantile encephalocardiomyopathyfatal infantile encephalocardiomyopathy caused by mutation in COA5mitochondrial complex IV, deficiency, nuclear type 9