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Chorea Acanthocytosis Syndrome (CUI C0393576) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0393576

NCI Thesaurus Code: C84926  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A group of neurologic disorders associated with acanthocytosis on the peripheral blood smear. The neurologic disorders include movement disorders, ataxia, cognitive disturbances, personality changes, and seizures.

GARD Definition: Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. The onset, severity and specific physical findings vary depending upon the specific type of NA present.  Signs and symptoms usually include chorea (involuntary, dance-like movements), involuntary movements of the face and tongue, progressive cognitive impairment, muscle weakness, seizures and behavioral or personality changes. NA syndromes typically progress to cause serious, disabling complications and are usually fatal. NA is inherited, but the disease-causing gene and inheritance pattern varies for each type. Although there is some disagreement in the medical literature about what disorders should be classified as forms of NA, four distinct disorders are usually classified as the "core" NA syndromes - chorea-acanthocytosis, McLeod syndrome, Huntington's disease-like 2 and pantothenate kinase-associated neurodegeneration (PKAN). - this information is from GARD/ORDR/NCATS.

GARD Definition: Choreoacanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. Choreoacanthocytosis is caused by mutations in the VPS13A gene and is inherited in an autosomal recessive manner.  There are currently no treatments to prevent or slow the progression of choreoacanthocytosis; treatment is symptomatic and supportive.   - this information is from GARD/ORDR/NCATS.

MSH 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.

Synonyms & Abbreviations: (see Synonym Details)
Acanthocytoses, Chorea
Acanthocytosis with neurologic disorder
Acanthocytosis, Chorea
CHAC
Chorea Acanthocytoses
Chorea acanthocytosis syndrome (disorder)
Chorea Acanthocytosis Syndromes
Chorea Acanthocytosis Syndrome
Chorea acanthocytosis
Chorea-Acanthocytoses
Chorea-acanthocytosis
Choreoacanthocytoses
Choreoacanthocytosis (disorder)
Choreoacanthocytosis
Levine Critchley Syndrome
Levine-Critchley syndrome
Neuroacanthocytosis [Disease/Finding]
Neuroacanthocytosis syndrome
Neuroacanthocytosis

External Source Codes: 
NCI Thesaurus Code C84926 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CTV3ID X003s SNOMEDCT_US
CTV3ID XUAf7 SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 1245 GARD
DISEASE_IDENTIFIER_ID 13215 GARD
DISEASE_IDENTIFIER_ID 13216 GARD
DISEASE_IDENTIFIER_ID 13217 GARD
DISEASE_IDENTIFIER_ID 13218 GARD
DISEASE_IDENTIFIER_ID 31671 GARD
DX 20080101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,9,q,2,1, OMIM
GENESYMBOL CHAC OMIM
GENESYMBOL VPS13A OMIM
HAS_GARD_PAGE true GARD
HN 2008 (2000) MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-10-13T00:00:00 GARD
MDA 20070709 MSH
MESH_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. NDFRT
MESH_DUI D054546 NDFRT
MESH_NAME Neuroacanthocytosis NDFRT
MESH_UI M0506048 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C10.228.662.262.249.937 MSH
MN C16.320.400.550 MSH
MOVED_FROM 100500 OMIM
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000181138 NDFRT
PM 2008; see CHOREATIC DISORDERS 2000-2007 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/10902/neuroacanthocytosis/resources/1 GARD
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/3956/choreoacanthocytosis/resources/1 GARD
RXAUI 3286942 RXNORM
RXAUI 3286943 RXNORM
RXAUI 3286946 RXNORM
RXAUI 3286949 RXNORM
RXAUI 3287841 RXNORM
RXAUI 3288167 RXNORM
RXAUI 3288168 RXNORM
RXAUI 4222045 RXNORM
RXCUI 1027153 RXNORM
SNOMEDID DA-21129 SNOMEDCT_US
SNOMEDID DC-15510 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E78.6 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G99.8 | THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E78.6 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~G99.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E78.6 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G25.5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E78.6 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~G25.5 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X003s SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUAf7 SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~DA-21129 SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~DC-15510 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERMUI T367084 MSH
TERMUI T367085 MSH
TERMUI T690344 MSH
TERMUI T690345 MSH
TERMUI T751227 MSH
TERMUI T751228 MSH
TERMUI T781497 MSH
TH GHR (2014) MSH
TH NLM (2000) MSH
TH NLM (2008) MSH
TH NLM (2010) MSH
TH NLM (2012) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0393576

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