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, Spleen, Lymph node, Eye, Testes, Skin, Spinal cord, Adipocyte, Colon, 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
A novel mutation in the ABCA1 gene causing an atypical phenotype of Tangier disease. (23351586)
2013
2
Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease. (22179783)
2012
3
Homology modeling and functional testing of an ABCA1 mutation causing Tangier disease. (21763656)
2011
4
Transient dyslipidemia mimicking the plasma lipid profile of Tangier disease in a diabetic patient with gram negative sepsis. (21844573)
2011
5
Tangier disease phenotype diversity in dizygous twin sisters. (20070997)
2010
6
Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease. (20093111)
2010
7
A novel missense mutation of ABCA1 in transmembrane alpha-helix in a Japanese patient with Tangier disease. (19344898)
2009
8
Severe Tangier disease with a novel ABCA1 gene mutation. (18955690)
2008
9
Contribution of Cdc42 to cholesterol efflux in fibroblasts from Tangier disease and Werner syndrome. (18374163)
2008
10
Gastric mucosa appearance in a patient with Tangier disease. (17094727)
2006
11
The establishment of telomerase-immortalized Tangier disease cell lines indicates the existence of an apolipoprotein A-I-inducible but ABCA1-independent cholesterol efflux pathway. (15001567)
2004
12
HDL deficiency and atherosclerosis: lessons from Tangier disease. (14746569)
2004
13
A case of Tangier disease with a novel mutation in the C-terminal region of ATP-binding cassette transporter A1. (15384103)
2004
14
Falciparum malaria and Tangier disease. (12718813)
2003
15
Postprandial hypertriglyceridaemia in patients with Tangier disease. (14645354)
2003
16
Coronary artery bypass grafting for a patient with Tangier disease. (12382407)
2002
17
Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis. (12111371)
2002
18
Cellular cholesterol efflux is modulated by phospholipid-derived signaling molecules in familial HDL deficiency/Tangier disease fibroblasts. (11181755)
2001
19
Novel approaches to treating cardiovascular disease: lessons from Tangier disease. (11227043)
2001
20
Cholesterol and apolipoprotein B metabolism in Tangier disease. (11689226)
2001
21
Subpopulations of high density lipoproteins in homozygous and heterozygous Tangier disease. (11369017)
2001
22
Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease. (11476965)
2001
23
Interferon-gamma induces downregulation of Tangier disease gene (ATP-binding-cassette transporter 1) in macrophage-derived foam cells. (10845873)
2000
24
Cellular cholesterol efflux in heterozygotes for tangier disease is markedly reduced and correlates with high density lipoprotein cholesterol concentration and particle size. (10884295)
2000
25
Reduction in apolipoprotein-mediated removal of cellular lipids by immortalization of human fibroblasts and its reversion by cAMP: lack of effect with Tangier disease cells. (10508196)
1999
26
Decreased reverse cholesterol transport from Tangier disease fibroblasts. Acceptor specificity and effect of brefeldin on lipid efflux. (9327782)
1997
27
Tangier disease: central nervous system impairment in a case of syringomyelia-like syndrome. (2243232)
1990
28
Evaluation of the particle size distribution of plasma lipoprotein in a patient with Tangier disease by high performance liquid chromatography. (2073749)
1990
29
The role of HDL in reverse cholesterol transport and its disturbances in Tangier disease and HDL deficiency with xanthomas. (2226526)
1990
30
Haemolytic anaemia in analpha-lipoproteinaemia (Tangier disease): morphological, biochemical, and biophysical properties of the red blood cell. (2757970)
1989
31
Different substrate specificities of plasma lecithin: cholesterol acyl transferase in fish eye disease and Tangier disease. (3425387)
1987
32
In vivo metabolism of proapolipoprotein A-I in Tangier disease. (3119665)
1987
33
Immunochemical study of the plasma low and high density lipoproteins in Tangier disease. (3086124)
1986
34
Neuropathy in Tangier disease: A clinicopathologic study and a review of the literature. (4082916)
1985
35
Tangier disease. A histological and ultrastructural study. (4070073)
1985
36
Bile lipid composition and haemostatic variables in a case of high density lipoprotein deficiency (Tangier disease). (6421598)
1984
37
Massive omental reticuloendothelial cell lipid uptake in Tangier disease after splenectomy. (6614036)
1983
38
Tangier disease with oral abnormalities. (6409822)
1983
39
Tangier disease with normal serum cholesterol. (6960872)
1982
40
The splanchnic autonomic outflow in amyloid neuropathy and Tangier disease. (7194438)
1981
41
The metabolic defect in Tangier Disease. (215911)
1979
42
Apoprotein A metabolism in Tangier disease. (213084)
1978
43
Metabolism of high-density lipoprotein apolipoproteins in Tangier disease. (211412)
1978
44
Adult-onset of Tangier disease: 1. Morphometric and pathologic studies suggesting delayed degradation of neutral lipids after fiber degeneration. (75948)
1978
45
The role of high density lipoproteins in lecithin:cholesterol acyltransferase activity: perspectives from Tangier disease. (218282)
1978
46
The lipoprotein abnormality in Tangier disease: quantitation of A apoproteins. (190272)
1977
47
Tangier disease. (170484)
1975
48
Studies on the protein defect in Tangier disease. Isolation and characterization of an abnormal high density lipoprotein. (4341435)
1972
49
Familial alpha-lipoprotein deficiency (Tangier disease) with neurological abnormalities. (4165172)
1967
50
THE INHERITANCE OF HIGH DENSITY LIPOPROTEIN DEFICIENCY (TANGIER DISEASE). (14162531)
1964

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

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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