| Descriptor English: | Neuroacanthocytosis | ||||||
| Descriptor Spanish: |
Neuroacantocitosis
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| Descriptor Portuguese: | Neuroacantocitose | ||||||
| Descriptor French: | Neuroacanthocytose | ||||||
| Entry term(s): |
Acanthocytoses, Chorea Acanthocytosis with Neurologic Disorder Acanthocytosis, Chorea Chorea Acanthocytoses Chorea Acanthocytosis Chorea Acanthocytosis Syndrome Chorea Acanthocytosis Syndromes Chorea-Acanthocytoses Chorea-Acanthocytosis Choreoacanthocytoses Choreoacanthocytosis Levine Critchley Syndrome Levine-Critchley Syndrome |
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| Tree number(s): |
C10.228.662.262.249.937 C16.320.400.550 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D054546 | ||||||
| Scope note: | 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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Acanthocytes (1981-2007) Hematologic Diseases (1982-2007) Movement Disorders (1982-2007) |
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| Public MeSH Note: | 2008; see CHOREATIC DISORDERS 2000-2007 |
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| History Note: | 2008 (2000) |
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| DeCS ID: | 52592 | ||||||
| Unique ID: | D054546 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2008/01/01 | ||||||
| Date of Entry: | 2007/07/09 | ||||||
| Revision Date: | 2013/07/08 |
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Neuroacanthocytosis
- Preferred
| Concept UI |
M0506048 |
| Scope note | 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. |
| Preferred term | Neuroacanthocytosis |
| Entry term(s) |
Acanthocytoses, Chorea Acanthocytosis with Neurologic Disorder Acanthocytosis, Chorea Chorea Acanthocytoses Chorea Acanthocytosis Chorea Acanthocytosis Syndrome Chorea Acanthocytosis Syndromes Chorea-Acanthocytoses Chorea-Acanthocytosis Choreoacanthocytoses Choreoacanthocytosis Levine Critchley Syndrome Levine-Critchley Syndrome |
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