MCID: TNG002
MIFTS: 78

Tangier Disease malady

Neuronal diseases, Eye diseases, Metabolic diseases, Endocrine diseases, Genetic diseases categories

Summaries for Tangier Disease

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. HDL is often referred to as "good cholesterol" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease.

MalaCards: Tangier Disease, also known as familial high density lipoprotein deficiency disease, is related to atherosclerosis and coronary artery disease. An important gene associated with Tangier Disease is ABCA1 (ATP-binding cassette, sub-family A (ABC1), member 1), and among its related pathways are Golgi to ER Retrograde Transport and Scavenging by Class B Receptors. The compounds rosiglitazone and alpha tocopherol have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and tonsil, and related mouse phenotypes are other and adipose tissue.

NIH Rare Diseases:42 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. last updated: 8/19/2011

Wikipedia:63 Tangier disease (also known as Familial alpha-lipoprotein deficiency) or Hypoalphalipoproteinemia is a... more...

Description from OMIM:46 205400

Aliases & Classifications for Tangier Disease

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
tangier disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

tangier disease 8 9 42 20 22 21 46 10 44 48 60
familial high density lipoprotein deficiency disease 42 20 21
alpha high density lipoprotein deficiency disease 42 21
familial hypoalphalipoproteinemia 8 21
a-alphalipoprotein neuropathy 42 21
tangier disease neuropathy 21 60
cholesterol thesaurismosis 42 21
defective adenosine triphosphate-binding cassette transporter a1 48
carbamoyl-phosphate synthase i deficiency disease 60
lipoprotein deficiency disease, hdl, familial 21
familial high density lipoprotein deficiency 8
familial alpha-lipoprotein deficiency 8
hypoalphalipoproteinemia, familial 60
hdl lipoprotein deficiency disease 21
tangier hereditary neuropathy 21
analphalipo-proteinemia 42
familial hdl deficiency 60
analphalipoproteinemia 21


External Ids:

Disease Ontology8 DOID:1388
NCIt39 C85182
OMIM46 205400
SNOMED-CT56 190783007, 15346004
MESH via Orphanet35 D013631
ICD10 via Orphanet26 E78.6
SNOMED-CT via Orphanet57 15346004
UMLS via Orphanet61 C0039292

Related Diseases for Tangier Disease

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17GeneCards, 18GeneDecks
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Diseases related to Tangier Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 134)
idRelated DiseaseScoreTop Affiliating Genes
1atherosclerosis30.4APOB, APOA2, APOE, APOA1, LCAT, PPARA
2coronary artery disease30.3PLTP, CETP, ABCA1, LPL, LCAT, APOA1
3polyneuropathy30.2APOA2
4hyperlipoproteinemia type v30.0APOE, LPL
5pancreatitis30.0LPL
6hypertriglyceridemia30.0LCAT, APOA1, APOE, APOA2, APOB, PPARA
7carbamoyl phosphate synthetase i deficiency disease10.6
8selective igm deficiency disease10.4
9phenylketonuria10.4
10choline deficiency disease10.4
11selective igg deficiency disease10.4
12gm2 activator deficiency10.4
13abca1-related familial high density lipoprotein deficiency10.4
14abca1-associated familial high density lipoprotein deficiency10.4
15apoa1-associated familial high density lipoprotein deficiency10.4
16neuropathy10.4
17syringomyelia10.4
18familial hdl deficiency10.3
19lipid storage disease10.2
20corneal disease10.2
21aortic disease10.2
22eye disease10.2
23intestinal disease10.2
24leprosy10.2
25peripheral neuropathy10.2
26skin disease10.2
27werner syndrome10.0
28neuronitis10.0
29tonsillitis10.0
30aortic atherosclerosis10.0
31autonomic neuropathy10.0
32central nervous system disease10.0
33chromosomal disease10.0
34colonic disease10.0
35complement deficiency10.0
36gallbladder disease10.0
37hemorrhagic disease10.0
38malaria10.0
39nervous system disease10.0
40spinal cord disease10.0
41neurologic diseases10.0
42lipoprotein lipase deficiency10.0LPL
43galactosemia10.0LCAT
44thromboembolism10.0APOA1
45hyperhomocysteinemia10.0APOE
46alcohol abuse10.0LCAT
47ischemia10.0PPARA
48lipoprotein glomerulopathy10.0APOE
49gout10.0LCAT
50vascular dementia10.0APOE

Graphical network of the top 20 diseases related to Tangier Disease:



Diseases related to tangier disease

Clinical Features for Tangier Disease

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46OMIM
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Clinical features from OMIM:

205400

Clinical synopsis from OMIM:

205400

Drugs & Therapeutics for Tangier Disease

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Tangier Disease

Drug clinical trials:

Search ClinicalTrials for Tangier Disease

Search NIH Clinical Center for Tangier Disease

Search CenterWatch for Tangier Disease

Genetic Tests for Tangier Disease

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20GeneTests, 22GTR
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Genetic tests related to Tangier Disease:

id Genetic test Affiliating Genes
1 Familial High Density Lipoprotein Deficiency20 APOA1
2 Tangier Disease20 22 ABCA1

Anatomical Context for Tangier Disease

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32MalaCards
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MalaCards organs/tissues related to Tangier Disease:

32
Liver, Heart, Tonsil, Lymph node, Spleen, Eye, Testes, Skin, Adipocyte, Colon, Spinal cord, Dorsal root ganglion

Animal Models for Tangier Disease or affiliated genes

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36MGI
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Publications for Tangier Disease

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50PubMed
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Articles related to Tangier Disease:

(show top 50)    (show all 188)
idTitleAuthorsYear
1
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. (22959828)
2012
2
Images in cardiovascular medicine. Tangier disease in severely progressive coronary and peripheral artery disease. (19470903)
2009
3
An unusual presentation of Tangier disease with gallbladder involvement. (19317282)
2008
4
Senescent phenotypes of skin fibroblasts from patients with Tangier disease. (17434146)
2007
5
Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy. (16678735)
2006
6
Confocal microscopy and corneal sensitivity in a patient with corneal manifestations of Tangier disease. (15502486)
2004
7
Tangier disease--a diagnostic challenge in countries endemic for leprosy. (14742612)
2004
8
Tangier disease. (15314143)
2004
9
The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease. (14747463)
2004
10
Tonsil with Tangier disease. (12696235)
2003
11
Molecular basis of cholesterol homeostasis: lessons from Tangier disease and ABCA1. (11927274)
2002
12
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease. (11257260)
2001
13
Accumulation of cardiolipin and lysocardiolipin in fibroblasts from Tangier disease subjects. (11445077)
2001
14
The Tangier disease gene encodes yet another pathophysiologically relevant atp-binding cassette protein. (10655285)
2000
15
Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency. (10787172)
2000
16
Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice. (10655069)
2000
17
Tangier disease as a test of the reverse cholesterol transport hypothesis. (11086021)
2000
18
Decreased expression of a member of the Rho GTPase family, Cdc42Hs, in cells from Tangier disease - the small G protein may play a role in cholesterol efflux. (11078892)
2000
19
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. (10431236)
1999
20
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. (10431237)
1999
21
The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway. (10525055)
1999
22
Tangier disease is caused by mutations in the gene encoding ATP- binding cassette transporter 1. (10431238)
1999
23
Growth and cell cycle abnormalities of fibroblasts from Tangier disease patients. (9888863)
1999
24
Decreased cholesterol efflux from fibroblasts of a patient without Tangier disease, but with markedly reduced high density lipoprotein cholesterol levels. (9506737)
1998
25
Defective regulation of phosphatidylcholine-specific phospholipases C and D in a kindred with Tangier disease. Evidence for the involvement of phosphatidylcholine breakdown in HDL-mediated cholesterol efflux mechanisms. (8941649)
1996
26
Tangier disease. (8694332)
1996
27
Generation of pre-beta 1-HDL and conversion into alpha-HDL. Evidence for disturbed HDL conversion in Tangier disease. (7583552)
1995
28
Tangier disease: an unusual diagnosis for the endoscopist. (8076579)
1994
29
Elevated complement activities of sera from patients with high density lipoprotein deficiency (Tangier disease): the presence of normal level of clusterin and the possible implication in the atherosclerosis. (8348751)
1993
30
Aortic features in Tangier disease and pathogenetic considerations--Part I. Fatty dots and streaks. (1380464)
1992
31
The heart in Tangier disease. Severe coronary atherosclerosis with near absence of high-density lipoprotein cholesterol. (1380771)
1992
32
Pathology of roots, spinal cord and brainstem in syringomyelia-like syndrome of Tangier disease. (1802966)
1991
33
Abnormal processing of Golgi elements and lysosomes in Tangier disease. (2065025)
1991
34
Tangier disease in a black patient: an unusual clinical presentation. (2164324)
1990
35
Lecithin:cholesterol acyltransferase in familial HDL deficiency (Tangier disease). (3122840)
1988
36
Abnormalities in spinal neurons and dorsal root ganglion cells in Tangier disease presenting with a syringomyelia-like syndrome. (3625234)
1987
37
Apoprotein A-I and lecithin: cholesterol acyltransferase in a patient with Tangier disease. (3099551)
1986
38
Bile lipids, platelet aggregability and pro-ApoAI processing in 2 cases of Tangier disease. (3736556)
1986
39
Restriction enzyme analysis of the apolipoprotein A-I gene in fish eye disease and Tangier disease. (6428166)
1984
40
Tangier disease. In vitro conversion of proapo-A-ITangier to mature APO-A-ITangier. (6725246)
1984
41
Endoneurial ATPase activity in Tangier disease and other peripheral neuropathies. (6152683)
1984
42
Abnormal apoprotein A-I isoprotein composition in patients with Tangier disease. (7068673)
1982
43
Plasma apolipoprotein concentrations in familial apolipoprotein A-I and A-II deficiency (Tangier disease). (6790903)
1981
44
Ocular manifestations of familial high-density lipoprotein deficiency (Tangier disease). (226043)
1979
45
Properties of the plasma very low and low density lipoproteins in Tangier disease. (201668)
1978
46
The pathology of Tangier disease. A light and electron microscopic study. (162820)
1975
47
Lipoproteins and lipolytic plasma enzymes in a case of tangier disease. (4368872)
1974
48
Tangier disease. (4373121)
1974
49
Peripheral nerve involvement in Tangier disease. (4361778)
1973
50
Red-cell lipids in familial alphalipoprotein deficiency (Tangier disease). (4173269)
1968

Genetic Variations for Tangier Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Tangier Disease:

62 (show all 26)
id Symbol AA change Variation ID SNP ID
1ABCA1p.Arg587TrpVAR_009146rs2853574
2ABCA1p.Trp590SerVAR_009147
3ABCA1p.Gln597ArgVAR_009148rs2853578
4ABCA1p.Asn935SerVAR_009150rs28937313
5ABCA1p.Ala937ValVAR_009151
6ABCA1p.Asp1289AsnVAR_009152
7ABCA1p.Cys1477ArgVAR_009153
8ABCA1p.Ile1517ArgVAR_009154
9ABCA1p.Asn1800HisVAR_009155
10ABCA1p.Ala255ThrVAR_012620
11ABCA1p.Thr929IleVAR_012626
12ABCA1p.Ala1046AspVAR_012627
13ABCA1p.Ser1506LeuVAR_012630
14ABCA1p.Arg2081TrpVAR_012635
15ABCA1p.Asn935HisVAR_037968rs28937314
16ABCA1p.Arg1680TrpVAR_037970rs137854498
17ABCA1p.Glu284LysVAR_062482
18ABCA1p.Tyr482CysVAR_062485
19ABCA1p.Trp590LeuVAR_062487
20ABCA1p.Trp840ArgVAR_062491
21ABCA1p.Arg1068CysVAR_062493
22ABCA1p.Leu1379PheVAR_062497
23ABCA1p.Val1704AspVAR_062501
24ABCA1p.Arg1851GlnVAR_062502
25ABCA1p.Arg1901SerVAR_062504
26ABCA1p.Gln2196HisVAR_062507

Expression for genes affiliated with Tangier Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tangier Disease

Search GEO for disease gene expression data for Tangier Disease.

Pathways for genes affiliated with Tangier Disease

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53Reactome, 29KEGG, 37NCBI BioSystems Database, 12EMD Millipore, 49PharmGKB
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Pathways related to Tangier Disease according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2ABCA1, CETP
210.2APOA1, APOB
310.2CETP, APOB
410.1PLCG1, PITPNA
510.1APOA1, APOB, ABCA1
610.1APOA1, APOB, ABCA1
710.1APOB, APOE, APOA1
8
Hide members
10.1APOB, APOE, APOA1
9
Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)
10.0APOA1, APOA2, ABCA1, ABCG1
10
Hide members
10.0APOA1, APOA2, PPARA, ABCA1
1110.0APOA1, APOA2, APOB, ABCA1
1210.0ABCG1, ABCA1, PPARG, PPARA
13
Hide members
9.9RHOG, LPL, PITPNA, PPARG
14
Hide members
9.8APOA1, APOE, APOA2, APOB, LPL
15
Hide members
9.8APOA1, ABCG4, ABCD1, ABCA1, ABCG1
169.7APOA1, APOA2, PPARA, PPARG, LPL, PLTP
179.7APOA1, APOE, APOA2, APOB, LPL, PLCG1
18
Hide members
9.6LCAT, APOA1, APOE, APOA2, APOB, PPARA
19
Hide members
9.4CETP, LCAT, ABCG1, ABCA1, LPL, APOB
20
Hide members
9.4LCAT, APOA1, APOE, APOA2, APOB, LPL

Compounds for genes affiliated with Tangier Disease

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Tangier Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 164)
idCompoundScoreTop Affiliating Genes
1rosiglitazone44 49 28 11 2414.6PPARA
2alpha tocopherol4410.6LCAT, LPL, PLTP
3p-opc4410.3CETP, LCAT, APOA2, APOA1
422r-hydroxycholesterol44 2811.3PLTP, ABCG1, ABCA1, APOA1, APOE
5xbai4410.3LPL, APOE
6torcetrapib4410.2CETP, APOA1, LCAT
7estrogen4410.2CETP, LCAT
8retinyl palmitate44 2411.2APOA1, APOE, APOB, LPL, LCAT
9ezetimibe44 1111.2APOB, PPARA, ABCA1, CETP, APOA1
10dimyristoylphosphatidylcholine4410.2LCAT, APOA1, APOE, APOA2
11fenofibric acid44 2811.2LPL, APOA1, APOB, PPARA, PPARG
12palmitate4410.2CETP, PLCG1, ABCD1, LCAT, PPARA
13ciprofibrate44 2811.2LPL, APOB, PPARA, PPARG, APOA1
14acipimox44 2811.2CETP, PLTP, APOB, APOA1
15acetaldehyde44 28 2412.1CETP, PPARA, APOE, APOA1, LCAT
16dextran sulfate4410.1CETP, LPL, APOA1, APOB, PLTP
17pioglitazone44 49 28 1113.1APOB, PPARA, PPARG, LPL, ABCA1, APOA1
18oleic acid44 28 11 2413.1APOB, PPARA, LPL, ABCA1, PLTP, CETP
19fluvastatin44 49 28 1113.1LPL, APOA1, PPARA, APOB, APOE, CETP
20carnitine4410.1LPL, PPARG, ABCA1, APOA1, PPARA, APOB
21linoleic acid44 28 2412.1LPL, ABCA1, PPARA, PPARG, CETP, LCAT
22intralipid4410.0LCAT, APOA1, APOE, APOA2, APOB, LPL
23sodium oleate4410.0APOA1, LPL, CETP
24lovastatin44 49 59 28 1114.0APOA1, APOE, APOB, LPL, ABCD1, CETP
25metformin44 49 1112.0APOA1, APOB, PPARA, PPARG, LPL
26niacin44 1111.0LPL, PPARG, ABCA1, CETP, PPARA, APOB
27vitamin a44 11 2411.9APOE, PPARA, CETP, APOA1, LCAT, LPL
28thyroxine44 2410.9CETP, APOA1, APOE, APOB, PPARG, LPL
29aspirin44 49 28 2412.9CETP, APOE, ABCA1, PPARG, PPARA, APOB
30pravastatin44 49 28 11 2413.9APOA1, CETP, APOE, APOB, PPARA, PPARG
31gemfibrozil44 28 1111.8APOA1, APOE, APOB, PPARA, PPARG, LPL
32stearic acid44 11 2411.8PPARA, CETP, ABCA1, LPL, PPARG
33fenofibrate44 49 1111.8PLTP, LPL, PPARG, PPARA, APOB, APOA2
34triacylglycerol449.8LCAT, APOA1, APOE, APOA2, APOB, PPARA
35atorvastatin44 49 28 11 2413.8APOA1, LCAT, APOE, CETP, ABCA1, LPL
36probucol44 1110.8APOB, PPARA, LPL, ABCA1, PLTP, CETP
37glutamine449.7LCAT, CETP, PLCG1, LPL, PPARG, APOB
38cholesterol ester449.7LCAT, APOA1, APOE, APOA2, APOB, PPARA
39simvastatin44 49 59 28 11 2414.6CETP, PLTP, ABCA1, LPL, LCAT, APOA1
40bezafibrate44 28 1111.6CETP, LCAT, APOA1, APOE, APOA2, APOB
41sterol449.6APOB, APOE, APOA1, LCAT, CETP, ABCG1
42testosterone44 59 11 2412.6ABCA1, LCAT, CETP, APOB, APOE, LPL
43dexamethasone44 49 28 1112.6LPL, PPARG, ABCG1, PPARA, APOB, PLCG1
44fatty acid449.5ABCA1, ABCD1, ABCG1, PLTP, CETP, APOA2
45alanine449.4PPARA, PPARG, PLTP, APOE, APOA1, LCAT
46phospholipid449.4CETP, PLCG1, LCAT, APOA1, APOE, APOA2
47genistein44 28 59 2 11 2414.2PLCG1, LPL, PPARG, PPARA, APOB, APOA1
48phosphatidylcholine449.1APOA1, APOE, APOA2, APOB, NPC1, PPARG
49cholesterol44 28 11 2411.9APOA2, APOB, NPC1, PPARA, PPARG, LPL
50lipid448.8ABCD1, ABCG1, ABCA1, CETP, PLCG1, PLTP

GO Terms for genes affiliated with Tangier Disease

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16Gene Ontology
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Cellular components related to Tangier Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:07168210.2APOB, APOE, APOA1
2intermediate-density lipoprotein particleGO:03436310.2APOB, APOE
3low-density lipoprotein particleGO:03436210.2APOB, APOE
4chylomicronGO:04262710.1APOE, APOA2, APOB, LPL
5high-density lipoprotein particleGO:03436410.1LCAT, APOA1, APOE, APOA2, CETP
6very-low-density lipoprotein particleGO:03436110.1LPL, APOB, APOA2, APOE, APOA1
7early endosomeGO:00576910.0APOA1, APOE, APOA2, APOB
8spherical high-density lipoprotein particleGO:03436610.0APOA2, APOA1
9extracellular spaceGO:0056159.6LCAT, APOA1, APOE, APOB, LPL, CETP
10extracellular regionGO:0055769.5LCAT, APOA1, APOE, APOA2, APOB, NPC1

Biological processes related to Tangier Disease according to GeneCards/GeneDecks:

(show all 49)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of lipase activityGO:06019210.6APOA1, APOA2
2negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.6APOA1, APOA2
3regulation of intestinal cholesterol absorptionGO:03030010.6APOA2, APOA1
4response to low-density lipoprotein particle stimulusGO:05509810.6PPARG, ABCA1
5protein oxidationGO:01815810.5APOA1, APOA2
6regulation of Cdc42 protein signal transductionGO:03248910.5APOA1, APOE, ABCA1
7phosphatidylcholine biosynthetic processGO:00665610.5APOA2, APOA1, LCAT
8negative regulation of receptor biosynthetic processGO:01087110.5PPARA, PPARG
9high-density lipoprotein particle clearanceGO:03438410.5APOA1, APOE, APOA2
10positive regulation of cholesterol esterificationGO:01087310.5APOA2, APOE, APOA1
11positive regulation of cholesterol effluxGO:01087510.5ABCG1, ABCA1, APOE
12lipoprotein catabolic processGO:04215910.5APOB, APOE
13triglyceride homeostasisGO:07032810.5APOA1, LPL, CETP
14response to lipidGO:03399310.5ABCG1, PPARG
15peripheral nervous system axon regenerationGO:01401210.5APOA1, APOE
16negative regulation of cytokine secretion involved in immune responseGO:00274010.5APOA1, APOA2
17positive regulation of fatty acid oxidationGO:04632110.4PPARG, PPARA
18high-density lipoprotein particle assemblyGO:03438010.4APOA1, APOE, APOA2, ABCA1
19phospholipid homeostasisGO:05509110.4CETP, ABCG1, ABCA1, APOA1
20organ regenerationGO:03110010.4APOA1, APOA2, PPARG
21negative regulation of sequestering of triglycerideGO:01089110.4PPARA, PPARG
22lipoprotein biosynthetic processGO:04215810.4LCAT, APOA1, APOE, APOB
23negative regulation of cholesterol storageGO:01088710.4PPARA, PPARG, ABCA1, ABCG1
24very-low-density lipoprotein particle remodelingGO:03437210.4LCAT, APOE, LPL, CETP
25intracellular cholesterol transportGO:03236710.4ABCA1, ABCG1
26triglyceride metabolic processGO:00664110.4CETP, LPL, APOA2, APOE
27phospholipid effluxGO:03370010.3APOA1, APOE, APOA2, ABCA1, ABCG1
28peptidyl-methionine modificationGO:01820610.3APOA1, APOA2
29cholesterol transportGO:03030110.3LCAT, APOA1, APOB, NPC1, CETP
30negative regulation of macrophage derived foam cell differentiationGO:01074510.3PPARA, PPARG, ABCA1, ABCG1, CETP
31low-density lipoprotein particle remodelingGO:03437410.3CETP, ABCG1, APOB, APOA2, APOE
32response to estrogen stimulusGO:04362710.3PPARG, APOA2, APOA1
33retinoid metabolic processGO:00152310.2APOA1, APOE, APOA2, APOB, LPL
34cellular lipid metabolic processGO:04425510.2APOA1, APOA2, PPARA, ABCD1, ABCA1
35receptor-mediated endocytosisGO:00689810.2APOE, APOB, CETP
36phototransduction, visible lightGO:00760310.2APOA1, APOE, APOA2, APOB, LPL
37lipid metabolic processGO:00662910.2PPARA, PPARG, PITPNA, PLTP
38response to drugGO:04249310.2APOA1, APOA2, NPC1, PPARG, LPL
39high-density lipoprotein particle remodelingGO:03437510.2LCAT, APOA1, APOE, APOA2, ABCG1, CETP
40positive regulation of cholesterol storageGO:01088610.2LPL, APOB
41positive regulation of macrophage derived foam cell differentiationGO:01074410.2LPL, APOB
42reverse cholesterol transportGO:04369110.1LCAT, APOA1, APOE, APOA2, ABCA1, ABCG1
43phospholipid catabolic processGO:00939510.1APOA2, PLCG1
44cholesterol effluxGO:0333449.9ABCG4, ABCA1, ABCG1, NPC1, APOB, APOA2
45lipoprotein transportGO:0429539.9PPARG, APOB
46cholesterol homeostasisGO:0426329.8LCAT, APOA1, APOE, APOA2, APOB, NPC1
47cholesterol metabolic processGO:0082039.8CETP, LCAT, APOA1, APOE, APOA2, APOB
48lipoprotein metabolic processGO:0421579.7APOA1, APOE, APOA2, APOB, PPARA, LPL
49small molecule metabolic processGO:0442819.3APOB, APOA2, APOE, APOA1, LCAT, PPARA

Molecular functions related to Tangier Disease according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particle receptor bindingGO:07065310.5APOA1, APOA2
2apolipoprotein receptor bindingGO:03419010.5APOA1, APOA2
3triglyceride bindingGO:01712910.5CETP, LPL
4apolipoprotein A-I bindingGO:03418610.5LCAT, ABCA1
5lipase inhibitor activityGO:05510210.4APOA2, APOA1
6phosphatidylcholine-sterol O-acyltransferase activator activityGO:06022810.4APOA2, APOE, APOA1
7high-density lipoprotein particle bindingGO:00803510.4APOA2, APOA1
8lipid transporter activityGO:00531910.4APOE, APOA2, CETP
9phospholipid transporter activityGO:00554810.4APOA1, ABCA1, ABCG1, CETP
10phosphatidylcholine bindingGO:03121010.3CETP, APOA2
11cholesterol bindingGO:01548510.1APOA1, APOA2, NPC1, ABCA1, ABCG1, CETP
12lipid bindingGO:00828910.1CETP, PLTP, PPARA, APOA2, APOE
13low-density lipoprotein particle receptor bindingGO:05075010.1APOB, APOE
14enzyme bindingGO:01989910.0APOA1, APOB, PPARG, ABCD1
15ATPase activityGO:01688710.0ABCA1, ABCD1, ABCG4
16protein heterodimerization activityGO:04698210.0APOE, APOA2, APOB, ABCG4, ABCG1
17apolipoprotein bindingGO:0341859.9ABCA1, LPL
18phospholipid bindingGO:0055439.9APOA1, APOE, APOA2, APOB, ABCA1, ABCG1
19cholesterol transporter activityGO:0171279.8CETP, APOA1, APOE, APOA2, APOB, ABCG4
20protein homodimerization activityGO:0428039.8APOE, APOA2, ABCG4, ABCD1, ABCG1
21protein bindingGO:0055158.6NIPSNAP3A, NPC1, APOB, APOA2, APOE, APOA1

Products for genes affiliated with Tangier Disease

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  • Antibodies
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Sources for Tangier Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet