MCID: TNG002
MIFTS: 64

Tangier Disease malady

Neuronal, Eye, Metabolic, Endocrine, Genetic categories

Summaries for Tangier Disease

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

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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 coronary heart disease and atherosclerosis. 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 skin, liver and spinal cord, and related mouse phenotypes are other and adipose tissue.

NIH Rare Diseases:43 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:64 Tangier disease (also known as Familial alpha-lipoprotein deficiency) or Hypoalphalipoproteinemia is a... more...

Description from OMIM:47 205400

Aliases & Classifications for Tangier Disease

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Neuronal, Eye, Metabolic, Endocrine


Characteristics (Orphanet epidemiological data):

49
tangier disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

tangier disease 8 9 43 20 22 21 47 10 45 49 61
familial high density lipoprotein deficiency disease 43 20 21
alpha high density lipoprotein deficiency disease 43 21
familial hypoalphalipoproteinemia 8 21
a-alphalipoprotein neuropathy 43 21
cholesterol thesaurismosis 43 21
tangier disease neuropathy 21 61
carbamoyl-phosphate synthase i deficiency disease 61
lipoprotein deficiency disease, hdl, familial 21
familial high density lipoprotein deficiency 8
familial alpha-lipoprotein deficiency 8
hdl lipoprotein deficiency disease 21
hypoalphalipoproteinemia, familial 61
tangier hereditary neuropathy 21
analphalipo-proteinemia 43
familial hdl deficiency 61
analphalipoproteinemia 21


External Ids:

Disease Ontology8 DOID:1388
NCIt40 C85182
OMIM47 205400
SNOMED-CT57 190783007, 15346004
MESH via Orphanet36 D013631
ICD10 via Orphanet26 E78.6
SNOMED-CT via Orphanet58 15346004
UMLS via Orphanet62 C0039292

Related Diseases for Tangier Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 127)
idRelated DiseaseScoreTop Affiliating Genes
1coronary heart disease30.5CETP, LCAT, APOA1, APOE, APOA2, APOB
2atherosclerosis30.5CETP, PPARA, PLTP, ABCG1, PPARG, ABCA1
3hypertriglyceridemia30.3CETP, PLTP, ABCA1, LPL, APOA2, LCAT
4coronary artery disease,30.3LCAT, APOA1, APOE, APOA2, APOB, PPARA
5hypercholesterolemia30.1LCAT, APOA1, APOE, APOA2, APOB, PPARA
6hypoalphalipoproteinemia30.0APOB, APOA2, APOA1, LCAT, PPARA, LPL
7lip disease10.9
8carbamoyl phosphate synthetase i deficiency disease10.6
9selective igm deficiency disease10.5
10phenylketonuria10.5
11choline deficiency disease10.5
12selective igg deficiency disease10.5
13gm2 activator deficiency10.5
14abca1-related familial high density lipoprotein deficiency10.4
15abca1-associated familial high density lipoprotein deficiency10.4
16apoa1-associated familial high density lipoprotein deficiency10.4
17syringomyelia10.4
18familial hdl deficiency10.4
19corneal disease10.2
20n syndrome10.2
21aortic disease10.2
22t cell deficiency10.2
23apo a-i deficiency10.2
24werner syndrome10.1
25protein c deficiency10.1
26aortic atherosclerosis10.1
27autonomic neuropathy10.1
28brain disease10.1
29spinal cord disease10.1
30amyloid neuropathy10.1
31protein r deficiency10.1
32sepsis10.1
33hemorrhage, intracerebral10.1
34lewis-sumner syndrome10.1
35lipoprotein lipase deficiency10.0LPL
36galactosemia10.0LCAT
37thromboembolism10.0APOA1
38hyperhomocysteinemia10.0APOE
39alcohol abuse10.0LCAT
40ischemia10.0PPARA
41lipoprotein glomerulopathy10.0APOE
42gout10.0LCAT
43vascular dementia10.0APOE
44abdominal aortic aneurysm10.0APOE
45pick's disease10.0APOE
46dermatitis10.0PPARA
47polyneuropathy10.0APOA2
48cholestasis10.0LCAT, CETP
49pneumonia10.0PPARA
50hyperthyroidism10.0APOA2

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



Diseases related to tangier disease

Clinical Features for Tangier Disease

Sources:
47OMIM
See all sources

Clinical features from OMIM:

205400

Clinical synopsis from OMIM:

205400

Drugs & Therapeutics for Tangier Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Tangier Disease:

33
Skin, Liver, Spinal cord, Lymph node, Spleen, Whole blood, Heart, Small intestine, Colon, Adipocyte, Tonsil, B cells, Dorsal root ganglion

Animal Models for Tangier Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Tangier Disease

Sources:
51PubMed
See all sources

Articles related to Tangier Disease:

(show top 50)    (show all 188)
idTitleAuthorsYear
1
Transient dyslipidemia mimicking the plasma lipid profile of Tangier disease in a diabetic patient with gram negative sepsis. (21844573)
2011
2
Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease. (20093111)
2010
3
A novel missense mutation of ABCA1 in transmembrane alpha-helix in a Japanese patient with Tangier disease. (19344898)
2009
4
Severe Tangier disease with a novel ABCA1 gene mutation. (18955690)
2008
5
Contribution of Cdc42 to cholesterol efflux in fibroblasts from Tangier disease and Werner syndrome. (18374163)
2008
6
Abdominal localization of Tangier disease mimicking a pancreatic neoplasm. (18787473)
2008
7
Lewis-Sumner syndrome and Tangier disease. (18625867)
2008
8
Gastric mucosa appearance in a patient with Tangier disease. (17094727)
2006
9
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
10
Tangier disease--a diagnostic challenge in countries endemic for leprosy. (14742612)
2004
11
A case of Tangier disease with a novel mutation in the C-terminal region of ATP-binding cassette transporter A1. (15384103)
2004
12
Falciparum malaria and Tangier disease. (12718813)
2003
13
Tangier disease with unusual clinical manifestations. (12702168)
2003
14
Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G&gt;C mutation in ABCA1 gene. (12576507)
2003
15
Postprandial hypertriglyceridaemia in patients with Tangier disease. (14645354)
2003
16
Molecular basis of cholesterol homeostasis: lessons from Tangier disease and ABCA1. (11927274)
2002
17
Coronary artery bypass grafting for a patient with Tangier disease. (12382407)
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
Accumulation of RhoA, RhoB, RhoG, and Rac1 in fibroblasts from Tangier disease subjects suggests a regulatory role of Rho family proteins in cholesterol efflux. (11162504)
2001
21
Cholesterol and apolipoprotein B metabolism in Tangier disease. (11689226)
2001
22
The Tangier disease gene encodes yet another pathophysiologically relevant atp-binding cassette protein. (10655285)
2000
23
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
24
The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway. (10525055)
1999
25
Growth and cell cycle abnormalities of fibroblasts from Tangier disease patients. (9888863)
1999
26
Plasma and fibroblasts of Tangier disease patients are disturbed in transferring phospholipids onto apolipoprotein A-I. (9610765)
1998
27
Tangier disease: an unusual diagnosis for the endoscopist. (8076579)
1994
28
Pathology of roots, spinal cord and brainstem in syringomyelia-like syndrome of Tangier disease. (1802966)
1991
29
Abnormal processing of Golgi elements and lysosomes in Tangier disease. (2065025)
1991
30
Tangier disease in a black patient: an unusual clinical presentation. (2164324)
1990
31
Tangier disease: central nervous system impairment in a case of syringomyelia-like syndrome. (2243232)
1990
32
Evaluation of the particle size distribution of plasma lipoprotein in a patient with Tangier disease by high performance liquid chromatography. (2073749)
1990
33
Haemolytic anaemia in analpha-lipoproteinaemia (Tangier disease): morphological, biochemical, and biophysical properties of the red blood cell. (2757970)
1989
34
In vivo metabolism of proapolipoprotein A-I in Tangier disease. (3119665)
1987
35
Neuropathy in Tangier disease: A clinicopathologic study and a review of the literature. (4082916)
1985
36
Restriction enzyme analysis of the apolipoprotein A-I gene in fish eye disease and Tangier disease. (6428166)
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
Tangier disease. High density lipoprotein deficiency due to defective metabolism of an abnormal apolipoprotein A-i (ApoA-ITangier). (7130397)
1982
41
Plasma apolipoprotein concentrations in familial apolipoprotein A-I and A-II deficiency (Tangier disease). (6790903)
1981
42
Ocular manifestations of familial high-density lipoprotein deficiency (Tangier disease). (226043)
1979
43
Abnormal concentration and anomalous distribution of apolipoprotein A-I in Tangier disease. (622047)
1978
44
High density lipoprotein infusion and partial plasma exchange in Tangier disease. (211037)
1978
45
The lipoprotein abnormality in Tangier disease: quantitation of A apoproteins. (190272)
1977
46
Tangier disease. (170484)
1975
47
Lipoproteins and lipolytic plasma enzymes in a case of tangier disease. (4368872)
1974
48
Peripheral nerve involvement in Tangier disease. (4361778)
1973
49
Studies on the protein defect in Tangier disease. Isolation and characterization of an abnormal high density lipoprotein. (4341435)
1972
50
THE INHERITANCE OF HIGH DENSITY LIPOPROTEIN DEFICIENCY (TANGIER DISEASE). (14162531)
1964

Genetic Variations for Tangier Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Tangier Disease:

63 (show all 26)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database, 12EMD Millipore, 50PharmGKB
See all sources

Pathways related to Tangier Disease according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Tangier Disease

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Tangier Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 164)
idCompoundScoreTop Affiliating Genes
1rosiglitazone45 50 29 11 2414.6PPARA
2alpha tocopherol4510.6LCAT, LPL, PLTP
3p-opc4510.3CETP, LCAT, APOA2, APOA1
422r-hydroxycholesterol45 2911.3PLTP, ABCG1, ABCA1, APOA1, APOE
5xbai4510.3LPL, APOE
6torcetrapib4510.2CETP, APOA1, LCAT
7estrogen4510.2CETP, LCAT
8retinyl palmitate45 2411.2APOA1, APOE, APOB, LPL, LCAT
9ezetimibe45 1111.2APOB, PPARA, ABCA1, CETP, APOA1
10dimyristoylphosphatidylcholine4510.2LCAT, APOA1, APOE, APOA2
11fenofibric acid45 2911.2LPL, APOA1, APOB, PPARA, PPARG
12palmitate4510.2CETP, PLCG1, ABCD1, LCAT, PPARA
13ciprofibrate45 2911.2LPL, APOB, PPARA, PPARG, APOA1
14acipimox45 2911.2CETP, PLTP, APOB, APOA1
15acetaldehyde45 29 2412.1CETP, PPARA, APOE, APOA1, LCAT
16dextran sulfate4510.1CETP, LPL, APOA1, APOB, PLTP
17pioglitazone45 50 29 1113.1APOB, PPARA, PPARG, LPL, ABCA1, APOA1
18oleic acid45 29 11 2413.1APOB, PPARA, LPL, ABCA1, PLTP, CETP
19fluvastatin45 50 29 1113.1LPL, APOA1, PPARA, APOB, APOE, CETP
20carnitine4510.1LPL, PPARG, ABCA1, APOA1, PPARA, APOB
21linoleic acid45 29 2412.1LPL, ABCA1, PPARA, PPARG, CETP, LCAT
22intralipid4510.0LCAT, APOA1, APOE, APOA2, APOB, LPL
23sodium oleate4510.0APOA1, LPL, CETP
24lovastatin45 50 60 29 1114.0APOA1, APOE, APOB, LPL, ABCD1, CETP
25metformin45 50 1112.0APOA1, APOB, PPARA, PPARG, LPL
26niacin45 1111.0LPL, PPARG, ABCA1, CETP, PPARA, APOB
27vitamin a45 11 2411.9APOE, PPARA, CETP, APOA1, LCAT, LPL
28thyroxine45 2410.9CETP, APOA1, APOE, APOB, PPARG, LPL
29aspirin45 50 29 2412.9CETP, APOE, ABCA1, PPARG, PPARA, APOB
30pravastatin45 50 29 11 2413.9APOA1, CETP, APOE, APOB, PPARA, PPARG
31gemfibrozil45 29 1111.8APOA1, APOE, APOB, PPARA, PPARG, LPL
32stearic acid45 11 2411.8PPARA, CETP, ABCA1, LPL, PPARG
33fenofibrate45 50 1111.8PLTP, LPL, PPARG, PPARA, APOB, APOA2
34triacylglycerol459.8LCAT, APOA1, APOE, APOA2, APOB, PPARA
35atorvastatin45 50 29 11 2413.8APOA1, LCAT, APOE, CETP, ABCA1, LPL
36probucol45 1110.8APOB, PPARA, LPL, ABCA1, PLTP, CETP
37glutamine459.7LCAT, CETP, PLCG1, LPL, PPARG, APOB
38cholesterol ester459.7LCAT, APOA1, APOE, APOA2, APOB, PPARA
39simvastatin45 50 60 29 11 2414.6CETP, PLTP, ABCA1, LPL, LCAT, APOA1
40bezafibrate45 29 1111.6CETP, LCAT, APOA1, APOE, APOA2, APOB
41sterol459.6APOB, APOE, APOA1, LCAT, CETP, ABCG1
42testosterone45 60 11 2412.6ABCA1, LCAT, CETP, APOB, APOE, LPL
43dexamethasone45 50 29 1112.6LPL, PPARG, ABCG1, PPARA, APOB, PLCG1
44fatty acid459.5ABCA1, ABCD1, ABCG1, PLTP, CETP, APOA2
45alanine459.4PPARA, PPARG, PLTP, APOE, APOA1, LCAT
46phospholipid459.4CETP, PLCG1, LCAT, APOA1, APOE, APOA2
47genistein45 29 60 2 11 2414.2PLCG1, LPL, PPARG, PPARA, APOB, APOA1
48phosphatidylcholine459.1APOA1, APOE, APOA2, APOB, NPC1, PPARG
49cholesterol45 29 11 2411.9APOA2, APOB, NPC1, PPARA, PPARG, LPL
50lipid458.8ABCD1, ABCG1, ABCA1, CETP, PLCG1, PLTP

GO Terms for genes affiliated with Tangier Disease

Sources:
16Gene Ontology
See all sources

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:03436310.2APOE, APOB
3low-density lipoprotein particleGO:03436210.2APOE, APOB
4chylomicronGO:04262710.1LPL, APOB, APOA2, APOE
5high-density lipoprotein particleGO:03436410.1CETP, APOA2, APOE, APOA1, LCAT
6very-low-density lipoprotein particleGO:03436110.1LPL, APOA2, APOB, APOE, APOA1
7early endosomeGO:00576910.0APOA2, APOA1, APOE, APOB
8spherical high-density lipoprotein particleGO:03436610.0APOA1, APOA2
9extracellular spaceGO:0056159.6APOB, LCAT, APOA1, APOE, CETP, LPL
10extracellular regionGO:0055769.5APOA2, CETP, PLTP, LPL, NPC1, APOB

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

(show all 49)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.6APOA2, APOA1
2negative regulation of lipase activityGO:06019210.6APOA2, APOA1
3regulation of intestinal cholesterol absorptionGO:03030010.6APOA1, APOA2
4response to low-density lipoprotein particle stimulusGO:05509810.6ABCA1, PPARG
5regulation of Cdc42 protein signal transductionGO:03248910.5APOA1, ABCA1, APOE
6negative regulation of receptor biosynthetic processGO:01087110.5PPARA, PPARG
7protein oxidationGO:01815810.5APOA1, APOA2
8phosphatidylcholine biosynthetic processGO:00665610.5APOA2, APOA1, LCAT
9high-density lipoprotein particle clearanceGO:03438410.5APOA1, APOE, APOA2
10positive regulation of cholesterol esterificationGO:01087310.5APOE, APOA1, APOA2
11negative regulation of cytokine secretion involved in immune responseGO:00274010.5APOA2, APOA1
12response to lipidGO:03399310.5ABCG1, PPARG
13positive regulation of cholesterol effluxGO:01087510.5APOE, ABCG1, ABCA1
14lipoprotein catabolic processGO:04215910.5APOE, APOB
15triglyceride homeostasisGO:07032810.5CETP, LPL, APOA1
16positive regulation of fatty acid oxidationGO:04632110.5PPARA, PPARG
17high-density lipoprotein particle assemblyGO:03438010.4APOA1, APOE, APOA2, ABCA1
18phospholipid homeostasisGO:05509110.4APOA1, CETP, ABCG1, ABCA1
19peripheral nervous system axon regenerationGO:01401210.4APOA1, APOE
20organ regenerationGO:03110010.4APOA1, PPARG, APOA2
21negative regulation of sequestering of triglycerideGO:01089110.4PPARA, PPARG
22lipoprotein biosynthetic processGO:04215810.4LCAT, APOB, APOE, APOA1
23negative regulation of cholesterol storageGO:01088710.4ABCA1, PPARG, PPARA, ABCG1
24very-low-density lipoprotein particle remodelingGO:03437210.4LCAT, LPL, APOE, CETP
25intracellular cholesterol transportGO:03236710.4ABCA1, ABCG1
26triglyceride metabolic processGO:00664110.4LPL, CETP, APOA2, APOE
27phospholipid effluxGO:03370010.3ABCG1, ABCA1, APOA2, APOA1, APOE
28peptidyl-methionine modificationGO:01820610.3APOA2, APOA1
29cholesterol transportGO:03030110.3NPC1, APOB, APOA1, LCAT, CETP
30negative regulation of macrophage derived foam cell differentiationGO:01074510.3PPARA, ABCA1, CETP, ABCG1, PPARG
31low-density lipoprotein particle remodelingGO:03437410.3APOA2, APOB, CETP, APOE, ABCG1
32response to estrogen stimulusGO:04362710.3APOA2, APOA1, PPARG
33retinoid metabolic processGO:00152310.2APOA1, APOE, APOA2, APOB, LPL
34cellular lipid metabolic processGO:04425510.2PPARA, APOA1, APOA2, ABCD1, ABCA1
35receptor-mediated endocytosisGO:00689810.2APOE, CETP, APOB
36phototransduction, visible lightGO:00760310.2APOA2, LPL, APOB, APOE, APOA1
37lipid metabolic processGO:00662910.2PLTP, PITPNA, PPARA, PPARG
38response to drugGO:04249310.2LPL, PPARG, NPC1, APOA2, APOA1
39high-density lipoprotein particle remodelingGO:03437510.2APOA2, LCAT, APOA1, APOE, ABCG1, CETP
40positive regulation of cholesterol storageGO:01088610.2APOB, LPL
41positive regulation of macrophage derived foam cell differentiationGO:01074410.2LPL, APOB
42reverse cholesterol transportGO:04369110.1LCAT, APOA1, APOE, CETP, ABCG1, ABCA1
43phospholipid catabolic processGO:00939510.1APOA2, PLCG1
44cholesterol effluxGO:0333449.9APOA2, APOA1, APOB, NPC1, ABCG4, ABCA1
45lipoprotein transportGO:0429539.9PPARG, APOB
46cholesterol metabolic processGO:0082039.8APOA1, APOE, APOA2, APOB, NPC1, ABCA1
47cholesterol homeostasisGO:0426329.8ABCA1, ABCG1, CETP, NPC1, APOB, APOA2
48lipoprotein metabolic processGO:0421579.7PPARA, APOB, APOA2, APOE, APOA1, LCAT
49small molecule metabolic processGO:0442819.3APOA1, APOE, APOA2, APOB, PPARA, LPL

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein receptor bindingGO:03419010.5APOA2, APOA1
2apolipoprotein A-I bindingGO:03418610.5LCAT, ABCA1
3triglyceride bindingGO:01712910.5CETP, LPL
4high-density lipoprotein particle receptor bindingGO:07065310.5APOA1, APOA2
5lipase inhibitor activityGO:05510210.4APOA1, APOA2
6phosphatidylcholine-sterol O-acyltransferase activator activityGO:06022810.4APOA1, APOE, APOA2
7high-density lipoprotein particle bindingGO:00803510.4APOA1, APOA2
8lipid transporter activityGO:00531910.4APOA2, APOE, CETP
9phospholipid transporter activityGO:00554810.4ABCG1, CETP, ABCA1, APOA1
10phosphatidylcholine bindingGO:03121010.3APOA2, CETP
11cholesterol bindingGO:01548510.1ABCG1, CETP, ABCA1, NPC1, APOA2, APOA1
12lipid bindingGO:00828910.1PPARA, CETP, APOA2, APOE, PLTP
13low-density lipoprotein particle receptor bindingGO:05075010.1APOB, APOE
14enzyme bindingGO:01989910.0ABCD1, PPARG, APOB, APOA1
15ATPase activityGO:01688710.0ABCG4, ABCA1, ABCD1
16protein heterodimerization activityGO:04698210.0APOB, ABCG4, ABCG1, APOA2, APOE
17apolipoprotein bindingGO:0341859.9LPL, ABCA1
18phospholipid bindingGO:0055439.9APOA1, APOE, APOA2, APOB, ABCA1, ABCG1
19cholesterol transporter activityGO:0171279.8APOB, APOE, APOA2, APOA1, CETP, ABCG4
20protein homodimerization activityGO:0428039.8APOE, ABCG1, ABCD1, ABCG4, APOA2
21protein bindingGO:0055158.6LCAT, ABCG4, ABCD1, ABCA1, ABCG1, PLCG1

Products for genes affiliated with Tangier Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tangier Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet