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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Neuroacanthocytosis
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Neuroacanthocytosis
Nervous System Diseases > Neurologic Manifestations > Dyskinesias > Chorea > Neuroacanthocytosis
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Dyskinesias > Chorea > Neuroacanthocytosis
... > Nervous System Diseases > Central Nervous System Diseases > Movement Disorders > Dyskinesias > Chorea > Neuroacanthocytosis

Terme préférentiel

Neuroacanthocytosis  

Type

  • mesh:Descriptor

Définition

  • An inherited autosomal disorder that is characterized by neurodegeneration; orofacial and buccal DYSKINESIAS; CHOREA; and thorny-looking red cells (ACANTHOCYTES). This disorder is due to mutations of chorein which is important in protein trafficking and is encoded by Vps13a on chromosome 9q21.

Concept générique

Synonyme(s)

  • Acanthocytosis with Neurologic Disorder
  • Chorea Acanthocytosis
  • Chorea-Acanthocytosis
  • Chorea Acanthocytosis Syndrome
  • Choreoacanthocytosis
  • Levine-Critchley Syndrome

Qualificatif(s) autorisé(s)

Traductions

  • Neuroacanthocytose

    français

  • Acanthocytose chorée
  • Chorée acanthocytose
  • Choréo-acanthocytose
  • Choréoacanthocytose
  • Syndrome de Levine-Critchley

URI

http://data.loterre.fr/ark:/67375/JVR-FR8VQLJ0-7

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RDF/XML TURTLE JSON-LD Date de création 09/07/2007, dernière modification le 08/07/2013