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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:
| 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 | 900000000000448009 | SNOMEDCT_US |
| CHARACTERISTIC_TYPE_ID | 900000000000011006 | 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 |
| MODIFIER_ID | 900000000000451002 | SNOMEDCT_US |
| 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 |
| 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 | 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
