MCID: TNG002
MIFTS: 70

Tangier Disease malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Endocrine diseases categories

Summaries for Tangier Disease

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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 fish-eye disease 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 Fat digestion and absorption and Folate Metabolism. The compounds essentiale and 24(s),25-epoxycholesterol have been mentioned in the context of this disorder. Affiliated tissues include tonsil, liver and spleen, and related mouse phenotypes are cardiovascular system and liver/biliary system.

NIH Rare Diseases:44 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:66 Tangier disease (also known as Familial alpha-lipoprotein deficiency) or Hypoalphalipoproteinemia is a... more...

Description from OMIM:48 205400

Aliases & Classifications for Tangier Disease

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 36MeSH, 41NCIt, 59SNOMED-CT, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
tangier disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

tangier disease 9 10 44 21 23 22 48 11 46 50 63
familial high density lipoprotein deficiency disease 44 21 22
alpha high density lipoprotein deficiency disease 44 22
hdl lipoprotein deficiency disease 44 22
familial hypoalphalipo-proteinemia 44 23
familial hypoalphalipoproteinemia 9 22
a-alphalipoprotein neuropathy 44 22
tangier disease neuropathy 22 63
cholesterol thesaurismosis 44 22
analphalipoproteinemia 22 50
defective adenosine triphosphate-binding cassette transporter a1 50
carbamoyl-phosphate synthase i deficiency disease 63
high density lipoprotein deficiency, tangier type 44
atp-binding cassette transporter a1 deficiency 50
lipoprotein deficiency disease, hdl, familial 22
familial high density lipoprotein deficiency 9
high density lipoprotein deficiency, type 1 44
familial alpha-lipoprotein deficiency 9
hypoalphalipoproteinemia, familial 63
tangier hereditary neuropathy 22
analphalipo-proteinemia 44
familial hdl deficiency 63
hdldt1 44


External Ids:

Disease Ontology9 DOID:1388
OMIM48 205400
NCIt41 C85182
SNOMED-CT59 190783007, 15346004
MESH via Orphanet37 D013631
ICD10 via Orphanet27 E78.6
SNOMED-CT via Orphanet60 15346004
UMLS via Orphanet64 C0039292

Related Diseases for Tangier Disease

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18GeneCards, 19GeneDecks
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Diseases related to Tangier Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1fish-eye disease30.3APOA1, APOA2, LCAT
2coronary artery disease30.3ABCA1, APOA1, CETP, LPL
3atherosclerosis30.1ABCA1, ABCG1, APOA1, APOA2, CETP, LPL
4hypertriglyceridemia29.9LCAT, PLTP, ABCA1, APOA1, APOA2, CETP
5hypoalphalipoproteinemia29.7ABCA1, APOA1, APOA2, CETP, LPL, PLTP
6abca1-related familial high density lipoprotein deficiency10.5
7abca1-associated familial high density lipoprotein deficiency10.5
8apoa1-associated familial high density lipoprotein deficiency10.5
9neuropathy10.4
10syringomyelia10.4
11familial hdl deficiency10.3
12eye disease10.2
13leprosy10.2
14peripheral neuropathy10.2
15polyneuropathy10.2
16amyloidosis, renal10.1APOA2, APOA1
17arcus senilis10.1LCAT, APOA1
18niemann-pick disease10.1NPC1, ABCA1
19amyloidosis, secondary10.1LCAT, APOA1
20hypobetalipoproteinemia10.1APOA1, LCAT
21alagille syndrome10.0LCAT, APOA1
22peripheral vascular disease10.0CETP, APOA1
23coronary stenosis10.0CETP, APOA1
24splenomegaly10.0ABCA1, LCAT
25complete lcat deficiency10.0APOA1, APOA2, LCAT
26peripheral artery disease10.0
27neuronitis10.0
28tonsillitis10.0
29werner syndrome10.0
30artery disease10.0
31malaria10.0
32pancreatitis10.0
33amyloid neuropathy10.0
34apo a-i deficiency10.0
35sepsis10.0
36lewis-sumner syndrome10.0
37xanthomatosis10.0ABCA1, LPL
38amyloid tumor10.0APOA2, ABCA1
39familial hypertriglyceridemia10.0APOA1, APOA2, LPL
40arteriosclerosis10.0LPL, APOA1
41amyloidosis10.0APOA1, APOA2, LPL
42type 1 diabetes mellitus10.0APOA1, CETP, LCAT
43protein s deficiency10.0PLTP, CETP
44primary hyperoxaluria10.0APOA1, LPL, LCAT
45hyperlipidemia type 310.0APOA1, CETP, LPL
46glucose intolerance10.0LPL, CETP, APOA1
47proteinuria10.0LCAT, CETP, APOA2, APOA1
48galactosemia9.9APOA1, CETP, LCAT, NPC1
49norum disease9.9APOA1, APOA2, LPL, LCAT
50dementia9.9CETP, LPL, NPC1

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



Diseases related to tangier disease

Symptoms for Tangier Disease

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48OMIM
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Symptoms by clinical synopsis from OMIM:

205400

Clinical features from OMIM:

205400

Drugs & Therapeutics for Tangier Disease

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Tangier Disease:

id Genetic test Affiliating Genes
1 Familial High Density Lipoprotein Deficiency21 APOA1
2 Tangier Disease21 23 ABCA1
3 Familial Hypoalphalipoproteinemia23

Anatomical Context for Tangier Disease

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34MalaCards
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MalaCards organs/tissues related to Tangier Disease:

34
Tonsil, Liver, Spleen, Lymph node, Eye, Heart, Skin, Testes, Colon, Spinal cord, Adipocyte, Dorsal root ganglion

Animal Models for Tangier Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Tangier Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.0NPC1, LCAT, LPL, APOA1, ABCA1
2MP:00053707.5NPC1, ABCA1, ABCG1, APOA1, LPL, LCAT
3MP:00053766.4ABCA1, ABCG1, APOA1, APOA2, LPL, PLTP

Publications for Tangier Disease

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53PubMed
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Articles related to Tangier Disease:

(show top 50)    (show all 188)
idTitleAuthorsYear
1
Recurrent lobar intracerebral hemorrhage in Tangier disease. (22133743)
2012
2
Homology modeling and functional testing of an ABCA1 mutation causing Tangier disease. (21763656)
2011
3
Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations. (19556721)
2009
4
A postmenopausal patient with Tangier disease developing SjAPgren's syndrome. (19208541)
2009
5
Images in cardiovascular medicine. Tangier disease in severely progressive coronary and peripheral artery disease. (19470903)
2009
6
Severe Tangier disease with a novel ABCA1 gene mutation. (18955690)
2008
7
POPC/apoA-I discs as a potent lipoprotein modulator in Tangier disease. (17560579)
2008
8
An unusual presentation of Tangier disease with gallbladder involvement. (19317282)
2008
9
Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy. (16678735)
2006
10
Tangier disease: still more questions than answers. (16235041)
2005
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
Confocal microscopy and corneal sensitivity in a patient with corneal manifestations of Tangier disease. (15502486)
2004
13
Molecular basis of cholesterol homeostasis: lessons from Tangier disease and ABCA1. (11927274)
2002
14
Coronary artery bypass grafting for a patient with Tangier disease. (12382407)
2002
15
Cellular cholesterol efflux is modulated by phospholipid-derived signaling molecules in familial HDL deficiency/Tangier disease fibroblasts. (11181755)
2001
16
Novel approaches to treating cardiovascular disease: lessons from Tangier disease. (11227043)
2001
17
Interferon-gamma induces downregulation of Tangier disease gene (ATP-binding-cassette transporter 1) in macrophage-derived foam cells. (10845873)
2000
18
Tangier disease and ABCA1. (11111099)
2000
19
The Tangier disease gene encodes yet another pathophysiologically relevant atp-binding cassette protein. (10655285)
2000
20
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. (10431236)
1999
21
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. (10431237)
1999
22
Digestive tract involvement in an infant and a child with Tangier disease. (9702662)
1998
23
Decreased reverse cholesterol transport from Tangier disease fibroblasts. Acceptor specificity and effect of brefeldin on lipid efflux. (9327782)
1997
24
The pathology of cornea in Tangier disease (familial high density lipoprotein deficiency). (8707957)
1996
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
Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier Disease. (7615839)
1995
28
Tangier disease: an unusual diagnosis for the endoscopist. (8076579)
1994
29
The high density lipoprotein- and apolipoprotein A-I-induced mobilization of cellular cholesterol is impaired in fibroblasts from Tangier disease subjects. (7999122)
1994
30
Tangier disease: isolation and characterization of LpA-I, LpA-II, LpA-I: A-II and LpA-IV particles from plasma. (8347683)
1993
31
Aortic features in Tangier disease and pathogenetic considerations--Part I. Fatty dots and streaks. (1380464)
1992
32
Pathology of roots, spinal cord and brainstem in syringomyelia-like syndrome of Tangier disease. (1802966)
1991
33
Characterization of metalloelastase-like activity from the plasma of a patient with Tangier disease. (1789930)
1991
34
Conformation of apolipoprotein B-100 in the low density lipoproteins of tangier disease. Identification of localized conformational response to triglyceride content. (1701170)
1990
35
Lecithin:cholesterol acyltransferase in familial HDL deficiency (Tangier disease). (3122840)
1988
36
Different substrate specificities of plasma lecithin: cholesterol acyl transferase in fish eye disease and Tangier disease. (3425387)
1987
37
Apoprotein A-I and lecithin: cholesterol acyltransferase in a patient with Tangier disease. (3099551)
1986
38
Neuropathy in Tangier disease: A clinicopathologic study and a review of the literature. (4082916)
1985
39
Tangier disease: a disorder of intracellular membrane traffic. (2994070)
1985
40
Bile lipid composition and haemostatic variables in a case of high density lipoprotein deficiency (Tangier disease). (6421598)
1984
41
Restriction enzyme analysis of the apolipoprotein A-I gene in fish eye disease and Tangier disease. (6428166)
1984
42
Massive omental reticuloendothelial cell lipid uptake in Tangier disease after splenectomy. (6614036)
1983
43
Tangier disease: defective recombination of a specific Tangier apolipoprotein A-I isoform (pro-apo A-I) with high density lipoproteins. (6412234)
1983
44
Metabolism of high density lipoprotein subfractions and constituents in Tangier disease following the infusion of high density lipoproteins. (6787156)
1981
45
Apoprotein A metabolism in Tangier disease. (213084)
1978
46
Tangier disease: one explanation of lipid storage. (210378)
1978
47
Peripheral nerve involvement in Tangier disease. (4361778)
1973
48
Nerve biopsy findings in two cases of Tangier disease. (4359503)
1973
49
Neuropathy in Tangier disease. Alpha-Lipoprotein deficiency manifesting as familial recurrent neuropathy and intestinal lipid storage. (4165386)
1967
50
THE INHERITANCE OF HIGH DENSITY LIPOPROTEIN DEFICIENCY (TANGIER DISEASE). (14162531)
1964

Variations for Tangier Disease

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Tangier Disease:

65 (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

Clinvar genetic disease variations for Tangier Disease:

1 (show all 21)
id Gene Name Type Significance SNP ID Assembly Location
1APOA1NM_000039.1(APOA1): c.67C> T (p.Gln23Ter)single nucleotide variantPathogenicrs387906570GRCh37Chr 11, 116707850: 116707850
2ABCA1NM_005502.3(ABCA1): c.4429T> C (p.Cys1477Arg)single nucleotide variantPathogenicrs137854494GRCh37Chr 9, 107568557: 107568557
3ABCA1ABCA1, IVS24DS, G-Csingle nucleotide variantPathogenic
4ABCA1NM_005502.3(ABCA1): c.1790A> G (p.Gln597Arg)single nucleotide variantPathogenicrs2853578GRCh37Chr 9, 107593308: 107593308
5ABCA1NM_005502.3(ABCA1): c.1824delG (p.Thr609Argfs)deletionPathogenicrs387906413GRCh37Chr 9, 107593274: 107593274
6ABCA1ABCA1, ASN875SERsingle nucleotide variantPathogenic
7ABCA1NM_005502.3(ABCA1): c.2810C> T (p.Ala937Val)single nucleotide variantPathogenicrs137854495GRCh37Chr 9, 107584795: 107584795
8ABCA1NM_005502.3(ABCA1): c.1769G> C (p.Trp590Ser)single nucleotide variantPathogenicrs137854496GRCh37Chr 9, 107593329: 107593329
9ABCA1ABCA1, 110-BP INS/14-BP DELindelPathogenic
10ABCA1NM_005502.3(ABCA1): c.3343_3344delTC (p.Ser1115Profs)deletionPathogenicrs387906414GRCh37Chr 9, 107581062: 107581063
11ABCA1NM_005502.3(ABCA1): c.6241C> T (p.Arg2081Trp)single nucleotide variantPathogenicrs137854501GRCh37Chr 9, 107549221: 107549221
12ABCA1ABCA1, 1-BP DEL, 2665CdeletionPathogenic
13ABCA1NM_005502.3(ABCA1): c.4517C> T (p.Ser1506Leu)single nucleotide variantPathogenicrs137854497GRCh37Chr 9, 107566949: 107566949
14ABCA1NM_005502.3(ABCA1): c.2804A> G (p.Asn935Ser)single nucleotide variantPathogenicrs28937313GRCh37Chr 9, 107584801: 107584801
15ABCA1NM_005502.3(ABCA1): c.2803A> C (p.Asn935His)single nucleotide variantPathogenicrs28937314GRCh37Chr 9, 107584802: 107584802
16ABCA1NG_007981.1: g.[101177_102434delins36; 107248_127198delins21]indelPathogenic
17ABCA1NM_005502.3(ABCA1): c.3295G> T (p.Asp1099Tyr)single nucleotide variantPathogenicrs28933692GRCh37Chr 9, 107581111: 107581111
18ABCA1NM_005502.3(ABCA1): c.6026T> C (p.Phe2009Ser)single nucleotide variantPathogenicrs137854499GRCh37Chr 9, 107550750: 107550750
19ABCA1NM_005502.3(ABCA1): c.3865G> A (p.Asp1289Asn)single nucleotide variantPathogenicrs137854500GRCh37Chr 9, 107576435: 107576435
20ABCA1NM_005502.3(ABCA1): c.3847_3850delCGCC (p.Pro1284Serfs)deletionPathogenicrs387906415GRCh37Chr 9, 107576450: 107576453
21ABCA1NM_005502.3(ABCA1): c.1719C> A (p.Tyr573Ter)single nucleotide variantPathogenicrs137854502GRCh37Chr 9, 107593379: 107593379

Expression for genes affiliated with Tangier Disease

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2BioGPS, 16Gene 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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Sources:
51PathCards, 31KEGG, 56Reactome, 39NCBI BioSystems Database, 61Thomson Reuters, 13EMD Millipore, 52PharmGKB
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Pathways related to Tangier Disease according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8APOA1, ABCA1
2
Show member pathways
Vitamin B12 Metabolism39
9.8APOA1, ABCA1
39.7ABCG1, ABCA1
4
Show member pathways
9.5ABCA1, CETP
59.4APOA2, APOA1, ABCA1
6
Show member pathways
9.4APOA1, ABCG1, ABCA1
79.0ABCA1, ABCG1, APOA1, APOA2
8
Show member pathways
8.9LPL, APOA2, APOA1
9
Show member pathways
8.6ABCA1, APOA1, APOA2, LPL
10
Show member pathways
fatty acid beta-oxidation VI (peroxisome)39
8.4APOA1, APOA2, LPL, PLTP
11
Show member pathways
6.9ABCA1, APOA1, APOA2, CETP, LPL, PLTP
12
Show member pathways
6.5ABCA1, ABCG1, APOA1, APOA2, CETP, LPL
13
Show member pathways
6.5LCAT, ABCA1, ABCG1, APOA1, APOA2, CETP

Compounds for genes affiliated with Tangier Disease

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46Novoseek, 25HMDB, 12DrugBank, 30IUPHAR, 52PharmGKB, 62Tocris Bioscience
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Compounds related to Tangier Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 85)
idCompoundScoreTop Affiliating Genes
1essentiale4610.0ABCG1, ABCA1
224(s),25-epoxycholesterol4610.0ABCG1, ABCA1
3pdpc469.9LCAT, APOA1
4plpc469.8LCAT, APOA1
51-palmitoyl-2-oleoylphosphatidylcholine469.7APOA1, CETP
63-hydroxy-3-methylglutaryl-coa46 2510.6NPC1, ABCG1, ABCA1
7dimyristoylphosphatidylcholine469.6APOA1, APOA2, LCAT
8ezetimibe46 1210.5ABCA1, APOA1, CETP
9cholesteryl linoleate469.5CETP, LCAT
10mspi469.4CETP, APOA2, APOA1
11torcetrapib469.4LCAT, CETP, APOA1
12trioleoylglycerol469.4APOA1, LPL
13acipimox46 3010.3APOA1, CETP, PLTP
1422r-hydroxycholesterol46 3010.3ABCA1, ABCG1, APOA1, PLTP
15psyllium469.2CETP, LCAT
16acetaldehyde30 46 2511.2APOA1, CETP, LCAT
17retinyl palmitate46 2510.2LCAT, LPL, APOA1
18p-nitrophenyl butyrate469.1LPL, LCAT
19sodium oleate469.1LPL, CETP, APOA1
20p-opc469.0LCAT, CETP, APOA2, APOA1
21fluvastatin46 52 30 1211.8LPL, CETP, APOA1
22niacin46 129.8ABCA1, APOA1, CETP, LPL
23stearic acid46 25 1210.7LPL, CETP, ABCA1
24gemfibrozil30 46 1210.7APOA1, APOA2, CETP, LPL
25pioglitazone30 46 52 1211.7LPL, APOA1, ABCA1
26oleic acid46 30 25 1211.6ABCA1, CETP, LPL, PLTP
27linoleic acid30 46 2510.6ABCA1, CETP, LPL, LCAT
28dextran sulfate468.5PLTP, LPL, CETP, APOA1
29palmitate468.5LCAT, LPL, CETP, APOA1
30vitamin a46 25 1210.5APOA1, CETP, LPL, LCAT
31dexamethasone46 52 30 1211.3ABCA1, ABCG1, APOA1, LPL, LCAT
32pravastatin46 52 30 25 1212.3LCAT, LPL, CETP, APOA1, ABCA1
33atorvastatin46 52 30 25 1212.2ABCA1, APOA1, CETP, LPL, LCAT
34retinoic acid46 259.2ABCA1, ABCG1, APOA1, APOA2, CETP, PLTP
35intralipid468.2APOA1, APOA2, CETP, LPL, LCAT
36sterol468.2ABCA1, ABCG1, APOA1, CETP, LCAT, NPC1
37testosterone46 62 25 1211.1ABCA1, APOA1, CETP, LPL, LCAT
38glucose468.0ABCA1, ABCG1, APOA1, APOA2, LPL, PLTP
39bezafibrate46 30 129.9LCAT, LPL, CETP, APOA2, APOA1, ABCA1
40fenofibrate46 52 129.9ABCA1, APOA1, APOA2, CETP, LPL, PLTP
41probucol46 128.8ABCA1, LCAT, PLTP, LPL, CETP, APOA1
42alpha tocopherol467.7ABCA1, APOA1, CETP, LPL, PLTP, LCAT
43simvastatin46 52 62 30 25 1212.7ABCA1, APOA1, CETP, LPL, PLTP, LCAT
44triacylglycerol467.7APOA1, APOA2, CETP, LPL, PLTP, LCAT
45cholesterol ester467.4LCAT, PLTP, LPL, CETP, APOA2, APOA1
46fatty acid467.3ABCA1, ABCG1, APOA2, CETP, LPL, PLTP
47phospholipid467.0ABCA1, ABCG1, LCAT, PLTP, LPL, CETP
48cholesterol46 30 25 129.5ABCA1, ABCG1, APOA1, APOA2, CETP, LPL
49phosphatidylcholine466.5NPC1, LCAT, PLTP, LPL, CETP, APOA2
50lipid466.5ABCA1, ABCG1, APOA1, APOA2, CETP, LPL

GO Terms for genes affiliated with Tangier Disease

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17Gene Ontology
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Cellular components related to Tangier Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1spherical high-density lipoprotein particleGO:0343669.5APOA2, APOA1
2chylomicronGO:0426279.3LPL, APOA2
3very-low-density lipoprotein particleGO:0343618.8APOA1, APOA2, LPL
4high-density lipoprotein particleGO:0343648.7LCAT, CETP, APOA2, APOA1
5extracellular regionGO:0055766.8APOA1, APOA2, CETP, LPL, PLTP, LCAT

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

(show all 34)
idNameGO IDScoreTop Affiliating Genes
1regulation of Cdc42 protein signal transductionGO:03248910.1APOA1, ABCA1
2negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.1APOA2, APOA1
3negative regulation of lipase activityGO:06019210.0APOA2, APOA1
4regulation of intestinal cholesterol absorptionGO:03030010.0APOA2, APOA1
5protein oxidationGO:01815810.0APOA1, APOA2
6negative regulation of cytokine secretion involved in immune responseGO:00274010.0APOA1, APOA2
7high-density lipoprotein particle clearanceGO:0343849.9APOA1, APOA2
8intracellular cholesterol transportGO:0323679.9ABCA1, ABCG1
9peptidyl-methionine modificationGO:0182069.9APOA1, APOA2
10lipoprotein biosynthetic processGO:0421589.8APOA1, LCAT
11negative regulation of cholesterol storageGO:0108879.8ABCA1, ABCG1
12high-density lipoprotein particle assemblyGO:0343809.8ABCA1, APOA1, APOA2
13positive regulation of cholesterol esterificationGO:0108739.7APOA1, APOA2
14phosphatidylcholine biosynthetic processGO:0066569.6LCAT, APOA2, APOA1
15negative regulation of macrophage derived foam cell differentiationGO:0107459.5CETP, ABCG1, ABCA1
16positive regulation of cholesterol effluxGO:0108759.4ABCG1, ABCA1
17cellular lipid metabolic processGO:0442559.4APOA2, APOA1, ABCA1
18low-density lipoprotein particle remodelingGO:0343749.4CETP, APOA2, ABCG1
19phospholipid effluxGO:0337009.4ABCA1, ABCG1, APOA1, APOA2
20retinoid metabolic processGO:0015239.2APOA1, APOA2, LPL
21phospholipid homeostasisGO:0550919.2ABCA1, ABCG1, APOA1, CETP
22triglyceride homeostasisGO:0703289.0APOA1, CETP, LPL
23triglyceride metabolic processGO:0066419.0APOA2, CETP, LPL
24cholesterol effluxGO:0333449.0ABCA1, ABCG1, APOA1, APOA2, NPC1
25phototransduction, visible lightGO:0076038.9LPL, APOA2, APOA1
26cholesterol transportGO:0303018.9NPC1, LCAT, CETP, APOA1
27very-low-density lipoprotein particle remodelingGO:0343728.9LCAT, LPL, CETP
28high-density lipoprotein particle remodelingGO:0343758.6ABCG1, APOA1, APOA2, CETP, LCAT
29response to drugGO:0424938.5ABCA1, APOA1, APOA2, LPL, NPC1
30reverse cholesterol transportGO:0436918.3LCAT, CETP, APOA2, APOA1, ABCG1, ABCA1
31cholesterol metabolic processGO:0082037.8NPC1, LCAT, CETP, APOA2, APOA1, ABCG1
32cholesterol homeostasisGO:0426327.8LCAT, CETP, APOA2, APOA1, ABCG1, ABCA1
33lipoprotein metabolic processGO:0421577.5ABCA1, LCAT, LPL, CETP, APOA2, APOA1
34small molecule metabolic processGO:0442817.4ABCA1, ABCG1, APOA1, APOA2, CETP, LPL

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particle receptor bindingGO:07065310.0APOA1, APOA2
2apolipoprotein receptor bindingGO:03419010.0APOA1, APOA2
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.9APOA2, APOA1
4lipase inhibitor activityGO:0551029.9APOA2, APOA1
5high-density lipoprotein particle bindingGO:0080359.9APOA1, APOA2
6apolipoprotein A-I bindingGO:0341869.8ABCA1, LCAT
7phosphatidylcholine bindingGO:0312109.4APOA2, CETP
8apolipoprotein bindingGO:0341859.3ABCA1, LPL
9phospholipid bindingGO:0055439.3ABCA1, ABCG1, APOA1, APOA2
10triglyceride bindingGO:0171299.3LPL, CETP
11lipid transporter activityGO:0053199.2CETP, APOA2
12phospholipid transporter activityGO:0055489.1ABCA1, ABCG1, APOA1, CETP
13lipid bindingGO:0082899.0PLTP, CETP, APOA2
14cholesterol transporter activityGO:0171278.7ABCA1, ABCG1, APOA1, APOA2, CETP
15cholesterol bindingGO:0154858.2NPC1, CETP, APOA2, APOA1, ABCG1, ABCA1
16protein bindingGO:0055157.2ABCG1, APOA1, APOA2, LPL, LCAT, NPC1

Products for genes affiliated with Tangier Disease

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Sources for Tangier Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet