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Disease Neuroacanthocytosis

Name Neuroacanthocytosis
Synonyms Acanthocytoses, Chorea | Acanthocytosis, Chorea | Acanthocytosis with Neurologic Disorder | CHAC | Chorea Acanthocytoses | Chorea-Acanthocytoses | Chorea Acanthocytosis | Chorea-Acanthocytosis | Chorea Acanthocytosis Syndrome | Chorea Acanthocytosis Syndromes | Choreoacanthocytoses | Choreoacanthocytosis | Levine Critchley Syndrome | Levine-Critchley Syndrome | NEUROACANTHOCYTOSIS
Definition 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.
Categories Genetic disease (inborn) | Nervous system disease
MeSH® ID D054546
OMIM® ID 200150

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Movement Disorders Has associated chemicals Has associated genes Has associated exposure references Dyskinesias Has associated chemicals Has associated genes Has associated exposure references Chorea Has associated chemicals Has associated genes Neuroacanthocytosis Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Neuroacanthocytosis Has associated chemicals Has associated genes

Top ↑ Descendants

Neuroacanthocytosis Has associated chemicals Has associated genes
  Neuroacanthocytosis, Mcleod Type