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Xanthomatosis, Cerebrotendinous (CUI C0238052) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0238052

NCI Thesaurus Code: C84628  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare inherited lipid-storage disorder caused by defects in the CYP27A1 gene. It is characterized by progressive neurologic dysfunction, premature atherosclerosis and development of cataracts.

MSH Definition: An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.

RADLEX Definition: A lipid storage disease, inherited as an autosomal recessive trait, characterized by xanthomas of the tendons, the white matter of the brain, and the lungs, and by spasticity, ataxia, pyramidal paresis, mental retardation, dementia, early cataracts, and atherosclerosis. It is associated with elevated plasma and tissue levels of cholestanol and defective bile synthesis, with the deposition of cholestanol in the central nervous system and myelin of peripheral nerves. The lesions contain cholesterol and dehydrocholesterol. (Dorland, 28th ed) [MeSH]

GARD Definition: Cerebrotendinous xanthomatosis is a type of lipid storage disease. Symptoms of this condition include diarrhea in infants, cataracts in children, tendon xanthomas, and progressive neurologic dysfunction. It is caused by mutations in the CYP27A1 gene. Treatment may involve chenodeoxycholic acid (CDCA), inhibitors of HMG-CoA reductase, and surgery to remove cataracts. - this information is from GARD/ORDR/NCATS.

CSP Definition: lipid storage disease, inherited as an autosomal recessive trait, characterized by xanthomas of the tendons, the white matter of the brain, and the lungs, and by spasticity, ataxia, pyramidal paresis, mental retardation, dementia, early cataracts, and atherosclerosis; associated with elevated plasma and tissue levels of cholestanol and defective bile synthesis, with the deposition of cholestanol in the central nervous system and myelin of peripheral nerves; the lesions contain cholesterol and dehydrocholesterol.

Synonyms & Abbreviations: (see Synonym Details)
Bogaert-Scherer-Epstein Disease, Van
Cerebral Cholesterinoses
Cerebral cholesterinosis
Cerebrotendinous cholesterinosis
Cerebrotendinous Xanthomatoses
cerebrotendinous xanthomatosis
Cholestanol storage disease (disorder)
Cholestanol storage disease
Cholestanolosis
CTX - Cerebrotendinous xanthomatosis
CTX
Disease, Van Bogaert-Scherer-Epstein
Van Bogaert Scherer Epstein Disease
VAN BOGAERT SCHERER EPSTEIN DIS
Van Bogaert-Scherer-Epstein Disease
van Bogaert-Scherer-Epstein syndrome
VON BOGAERT DISEASE
Xanthomatoses, Cerebrotendinous
Xanthomatosis, Cerebrotendinous [Disease/Finding]
Xanthomatosis, Cerebrotendinous
Zerebrotendinöse Xanthomatose

External Source Codes: 
NCI Thesaurus Code C84628 (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 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID X40VU SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1746-5174 CSP
DISEASE_IDENTIFIER_ID 16721 GARD
DISEASE_IDENTIFIER_ID 16722 GARD
DX 19970101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,2,q,3,3,-,q,t,e,r, OMIM
GENESYMBOL CTX OMIM
GENESYMBOL CYP27A1 OMIM
GENESYMBOL CYP27 OMIM
HAS_GARD_PAGE true GARD
HN 97 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-12-15T00:00:00 GARD
MDA 19960610 MSH
MESH_DEFINITION An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms. NDFRT
MESH_DUI D019294 NDFRT
MESH_NAME Xanthomatosis, Cerebrotendinous NDFRT
MESH_UI M0028726 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C16.320.565.398.925 MSH
MN C18.452.584.750.975 MSH
MN C18.452.648.398.925 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000003912 NDFRT
PM 97 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/5622/cerebrotendinous-xanthomatosis/resources/1 GARD
RXAUI 3131867 RXNORM
RXAUI 3254639 RXNORM
RXAUI 3256791 RXNORM
RXAUI 3256792 RXNORM
RXAUI 3605619 RXNORM
RXCUI 1023769 RXNORM
SNOMED_CID 63246000 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E75.5 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E75.5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E75.5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF ATAXIA CO-OCCURRENT AND DUE TO CEREBROTENDINOUS XANTHOMATOSIS CHOOSE R27.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447638001 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 724768005 | Ataxia co-occurrent and due to cerebrotendinous xanthomatosis | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E75.5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~R27.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~ SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X40VU SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T057480 MSH
TERMUI T057481 MSH
TERMUI T645929 MSH
TERMUI T769514 MSH
TH GHR (2014) MSH
TH NLM (1997) MSH
TH NLM (2007) MSH
TH NLM (2011) 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=C0238052

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