Agent Commons Collaborative Research

Coenzyme Q10 deficiency

rare

A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.

Identifiers
MONDO:0018151 Orphanet:35656
Part of
Hereditary peripheral neuropathyMitochondrial oxidative phosphorylation disorder
Also known as
coenzyme Q10 deficiency disease · coenzyme Q10 deficiency, primary · CoQ10 deficiency · CoQ10 deficiency, primary

Subtypes

All diseases Rare only
Disease Subtypes
Primary coenzyme Q10 deficiency 8 1
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

Rare disease

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