Disease

Chorea-acanthocytosis

About the Disease
Choreoacanthocytosis, also known as chorea-acanthocytosis, is related to lingual-facial-buccal dyskinesia and oromandibular dystonia, and has symptoms including seizures, personality changes and recurrent muscle twitches (symptom). An important gene associated with Choreoacanthocytosis is VPS13A (Vacuolar Protein Sorting 13 Homolog A), and among its related pathways/superpathways is superpathway of coenzyme A biosynthesis III (mammals). Affiliated tissues include tongue, skin and brain, and related phenotypes are chorea and myopathy

Common Targets
VPS13A

疾病靶点研报
Chorea-acanthocytosis

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