Neuroacanthocytosis [choreoakantocytóza]
topical
6
- Terms
-
Levineův-Critchleyho syndrom
neuroakantocytóza
-
Acanthocytosis with Neurologic Disorder
Chorea Acanthocytosis
Chorea Acanthocytosis Syndrome
Chorea-Acanthocytosis
Choreoacanthocytosis
Levine-Critchley Syndrome
Persistent link
https://www.medvik.cz/link/D054546
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.
- DUI
- D054546 MeSH Browser
- CUI
- M0506048
- Previous indexing
- Acanthocytes (1981-2007); Hematologic Diseases (1982-2007); Movement Disorders (1982-2007)
- History note
- 2008 (2000)
- Public note
- 2008; see CHOREATIC DISORDERS 2000-2007
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications
- DI
- diagnosis 5
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology 2
- GE
- genetics 4
- HI
- history
- IM
- immunology
- ME
- metabolism 1
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology 1
- PP
- physiopathology 2
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy
- UR
- urine
- VE
- veterinary
- VI
- virology
...
Occurrences in Medvik records
C
Diseases
Neuroacanthocytosis, Mcleod Type Disease MeSH Browser