cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
Findings
No curated finding names cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 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 COA6 gene.
Definition from the Mondo Disease Ontology (MONDO:0014668), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
14 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.
- Aortic regurgitationHPOHP:0001659
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 1 of 1 reported patient
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 1 reported patient
- HypothermiaHPOHP:0002045
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Lactic acidosisHPOHP:0003128
- 1 of 1 reported patient
- Left ventricular noncompactionHPOHP:0030682
Show the remaining 2
- TachypneaHPOHP:0002789
- 1 of 1 reported patient
- Tricuspid regurgitationHPOHP:0005180
- 1 of 1 reported patient
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.
- COA6HGNC:18025
- Strong · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
- Also called
- cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4COA6 fatal infantile encephalocardiomyopathyfatal infantile encephalocardiomyopathy caused by mutation in COA6mitochondrial complex IV deficiency, nuclear type 13