Coenzyme Q10 Deficiency, Primary, 4 (COQ10D4)

Alias:

Scar9

Autosomal Recessive Ataxia Due to Ubiquinone Deficiency

Spinocerebellar Ataxia, Autosomal Recessive 9

Autosomal Recessive Cerebellar Ataxia Type 2

Coq10d4

Arca2

Autosomal Recessive Ataxia Due to Coenzyme Q10 Deficiency

Autosomal Recessive Spinocerebellar Ataxia Type 9

Primary Coenzyme Q10 Deficiency 4

Ataxia, Spinocerebellar, Autosomal Recessive, Type 9

Spinocerebellar Ataxia Autosomal Recessive 9

Coenzyme Q10 Deficiency, Primary, Type 4

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Coenzyme Q10 Deficiency, Primary, 4, also known as scar9, is related to coenzyme q10 deficiency disease and hypophosphatemia, and has symptoms including cerebellar ataxia An important gene associated with Coenzyme Q10 Deficiency, Primary, 4 is COQ8A (Coenzyme Q8A), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include skeletal muscle and bone marrow, and related phenotypes are cerebellar atrophy and progressive cerebellar ataxia

Related ID：

MALACARDS：CNZ005

OMIM：612016

MESH：D028361