Coenzyme Q10 Deficiency, Primary, 1 (COQ10D1)

Coenzyme Q10 Deficiency, Primary, 1(来自ICD-11)

别称:

Ubiquinone Deficiency 1

Coenzyme Q Deficiency 1

Coq Deficiency 1

Coq10d1

Primary Coenzyme Q10 Deficiency 1

Coq10 Deficiency, Primary, 1

Coenzyme Q10 Deficiency, Primary, Type 1

Primary Coq10 Deficiency 1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Coenzyme Q10 Deficiency, Primary, 1, also known as ubiquinone deficiency 1, is related to coenzyme q10 deficiency, primary, 4 and coenzyme q10 deficiency, primary, 6, and has symptoms including cerebellar ataxia, seizures and unspecified visual loss. An important gene associated with Coenzyme Q10 Deficiency, Primary, 1 is COQ2 (Coenzyme Q2, Polyprenyltransferase), and among its related pathways/superpathways are 5q35 copy number variation and Ponatinib Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include skeletal muscle and bone marrow, and related phenotypes are tremor and dysphagia

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