coenzyme Q10 deficiency
MONDO:0018151Mondo
Findings
No curated finding names coenzyme Q10 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.
Definition from the Mondo Disease Ontology (MONDO:0018151), read 2026-09-29. CC BY 4.0.
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.
- COQ8AHGNC:16812
- Definitive · Illumina · Autosomal recessive · 2018
Where it sits
- Narrower terms (9)
- autosomal recessive ataxia due to ubiquinone deficiency
- coenzyme Q10 deficiency, primary, 1
- coenzyme Q10 deficiency, primary, 3
- coenzyme q10 deficiency, primary, 9
- deafness-encephaloneuropathy-obesity-valvulopathy syndrome
- encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
- familial steroid-resistant nephrotic syndrome with sensorineural deafness
- neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
- primary coenzyme Q10 deficiency 8
Other names
3 names
Resolves to: coenzyme Q10 deficiency
- Also called
- coenzyme Q10 deficiency diseasecoenzyme Q10 deficiency, primaryCoQ10 deficiency