Choreoacanthocytosis (CHAC)

Choreoacanthocytosis(来自ICD-11)

别称:

Chorea-Acanthocytosis

Chac

Levine-Critchley Syndrome

Acanthocytosis with Neurologic Disorder

Choreaacanthocytosis

Neuroacanthocytosis

Levine-Critchley Syndrome, Formerly

Chorea Acanthocytosis Syndrome

Neuroacanthocytosis, Formerly

Choreo-Acanthocytosis

Acanthocytosis Chorea

Chorea Acanthocytosis

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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 and skin, and related phenotypes are chorea and involuntary movements

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