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Tangier Disease (CUI C0039292) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0039292

NCI Thesaurus Code: C85182  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare, autosomal recessive inherited disorder of cholesterol transport, resulting in severe reduction of the amount of high density lipoprotein in the plasma and accumulation of cholesterol esters in the tissues. Signs and symptoms include large tonsils, hepatosplenomegaly, lymphadenopathy, and hypocholesterolemia.

GARD Definition: Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) - the 'good cholesterol' - in the blood. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease. Tangier disease is caused by mutations in the ABCA1 gene. It is inherited in an autosomal recessive pattern. - this information is from GARD/ORDR/NCATS.

SNOMEDCT_US Definition: A rare lipoprotein metabolism disorder with biochemical characteristics of an almost complete absence of plasma high-density lipoproteins (HDL) and clinical characteristics of liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents and occasionally cardiovascular disease in adults. Approximately 100 cases have been described worldwide. The disease is due to mutations in the ABCA1 gene (9q31) encoding the ATP-binding cassette transporter (ABC1), a cholesterol efflux regulatory protein that is able to orient cellular cholesterol towards the cell surface and to facilitate its transfer towards the core of HDL. Mutations in this gene result in severe deficiency of plasma HDL cholesterol and deposition of cholesteryl and retinyl esters and carotenoids in nonadipose tissues. Transmission is autosomal recessive.

CSP Definition: autosomal recessive disorder of lipoprotein and lipid metabolism characterized by absence in plasma of normal high-density lipoprotein, deficiency of apolipoproteins AI and AII, low to normal low-density lipoproteins, high triglycerides and accumulation in body tissues of cholesteryl esters.

MSH Definition: An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD.

Synonyms & Abbreviations: (see Synonym Details)
A-alphalipoprotein neuropathy
Alpha high density lipoprotein deficiency disease
Analphalipo-proteinemia
Analphalipoproteinaemia
Analphalipoproteinemias
Analphalipoproteinemia
Analphaliproteinaemia
Analphaliproteinemia
ATP-binding cassette transporter A1 deficiency
Cholesterol Thesaurismoses
Cholesterol thesaurismosis
Defective adenosine triphosphate-binding cassette transporter A1
Familial high density lipoprotein deficiency
Familial hypoalphalipoproteinaemia
Familial hypoalphalipoproteinemia (disorder)
Familial hypoalphalipoproteinemia
HDLDT1
High density lipoprotein deficiency, Tangier type
High density lipoprotein deficiency, type 1
High Density Lipoprotein Deficiency, Type I
High-Density Lipoprotein Deficiency, Tangier Type
High-Density Lipoprotein Deficiency, Type I
Tangier disease (disorder)
Tangier Disease [Disease/Finding]
Tangier disease
TANGIER DIS
TGD
Thesaurismoses, Cholesterol
Thesaurismosis, Cholesterol

External Source Codes: 
NCI Thesaurus Code C85182 (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 X40Vt SNOMEDCT_US
CTV3ID XUv9J 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
DID 1849-5194 CSP
DISEASE_IDENTIFIER_ID 32481 GARD
DISEASE_IDENTIFIER_ID 32482 GARD
DISEASE_IDENTIFIER_ID 32483 GARD
DISEASE_IDENTIFIER_ID 5951 GARD
DISEASE_IDENTIFIER_ID 5952 GARD
DISEASE_IDENTIFIER_ID 5953 GARD
DISEASE_IDENTIFIER_ID 5954 GARD
DISEASE_IDENTIFIER_ID 5955 GARD
DISEASE_IDENTIFIER_ID 5956 GARD
DISEASE_IDENTIFIER_ID 5957 GARD
DX 19910101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EFFECTIVE_TIME 20170731 SNOMEDCT_US
FX D008075 MSH
FX D012174 MSH
GENELOCUS ,9,q,2,2,-,q,3,1, OMIM
GENESYMBOL ABC1 OMIM
GENESYMBOL ABCA1 OMIM
GENESYMBOL HDLDT1 OMIM
GENESYMBOL TGD OMIM
HAS_GARD_PAGE true GARD
HN 1991(1978) 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 2009-05-22T00:00:00 GARD
MDA 19770429 MSH
MESH_DEFINITION An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD. NDFRT
MESH_DUI D013631 NDFRT
MESH_NAME Tangier Disease NDFRT
MESH_UI M0021031 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C10.668.829.800.875 MSH
MN C16.320.565.398.500.330.750 MSH
MN C18.452.584.500.875.330.750 MSH
MN C18.452.648.398.500.330.750 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000002898 NDFRT
PM 1991; see HYPOLIPOPROTEINEMIA 1980-1990, see HYPOLIPOPROTEINEMIAS 1978-1979 MSH
PRIMARY_PATH 10051875$10059674$10027424$10010331$Tangier disease$Inborn errors of lipid metabolism$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/7731/tangier-disease/resources/1 GARD
RXAUI 3108794 RXNORM
RXAUI 3247233 RXNORM
RXAUI 3247236 RXNORM
RXAUI 3287424 RXNORM
RXAUI 3287487 RXNORM
RXAUI 3287488 RXNORM
RXAUI 3287489 RXNORM
RXAUI 4222073 RXNORM
RXAUI 4222527 RXNORM
RXAUI 5039454 RXNORM
RXCUI 1027960 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 15346004 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E78.6 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E78.6 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~E78.6 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E78.6 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 900000000000497000~MAPTARGET~X40Vt SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUv9J 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 T040043 MSH
TERMUI T040047 MSH
TERMUI T646293 MSH
TERMUI T646294 MSH
TERMUI T750580 MSH
TERMUI T751280 MSH
TERMUI T781721 MSH
TERMUI T781722 MSH
TERMUI T811914 MSH
TH GHR (2014) MSH
TH NLM (1978) MSH
TH NLM (1995) MSH
TH NLM (2007) 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=C0039292

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