MCID: TNG002
MIFTS: 63

Tangier Disease malady

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

Aliases & Classifications for Tangier Disease

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Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 33MeSH, 56SNOMED-CT, 39NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Tangier Disease:

Name: Tangier Disease 46 8 9 42 20 21 10 44 48 22 61
Familial High Density Lipoprotein Deficiency Disease 42 20 21
Analphalipoproteinemia 42 21 48
Defective Adenosine Triphosphate-Binding Cassette Transporter A1 42 48
Alpha High Density Lipoprotein Deficiency Disease 42 21
Atp-Binding Cassette Transporter A1 Deficiency 42 48
Hdl Lipoprotein Deficiency Disease 42 21
Familial Hypoalphalipoproteinemia 8 21
a-Alphalipoprotein Neuropathy 42 21
Tangier Disease Neuropathy 21 61
Cholesterol Thesaurismosis 42 21
 
High Density Lipoprotein Deficiency, Tangier Type 42
Lipoprotein Deficiency Disease, Hdl, Familial 21
Familial High Density Lipoprotein Deficiency 8
High Density Lipoprotein Deficiency, Type 1 42
Familial Alpha-Lipoprotein Deficiency 8
Familial Hypoalphalipo-Proteinemia 42
Hypoalphalipoproteinemia, Familial 61
Tangier Hereditary Neuropathy 21
Analphalipo-Proteinemia 42
Familial Hdl Deficiency 61
Hdldt1 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
tangier disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM46 205400
Disease Ontology8 DOID:1388
NCIt39 C85182
SNOMED-CT56 190783007, 15346004
Orphanet48 31150
MESH via Orphanet34 D013631
ICD10 via Orphanet26 E78.6
UMLS via Orphanet62 C0039292

Summaries for Tangier Disease

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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 based summary: Tangier Disease, also known as familial high density lipoprotein deficiency disease, is related to fish-eye disease and hypertriglyceridemia, and has symptoms including autosomal recessive inheritance, visual impairment and ectropion. 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 liver, heart and tonsil, and related mouse phenotypes are cardiovascular system and liver/biliary system.

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

OMIM:46 Tangier disease is an autosomal recessive disorder characterized by markedly reduced levels of plasma high density... (205400) more...

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

Related Diseases for Tangier Disease

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

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1fish-eye disease30.5APOA2, APOA1, LCAT
2hypertriglyceridemia30.2LPL, APOA2, APOA1
3coronary artery disease29.9LPL, APOA1, ABCA1, CETP
4atherosclerosis28.9LCAT, PLTP, LPL, CETP, APOA2, APOA1
5hypoalphalipoproteinemia28.8ABCA1, APOA1, APOA2, CETP, LPL, PLTP
6abca1-related familial high density lipoprotein deficiency10.6
7abca1-associated familial high density lipoprotein deficiency10.6
8apoa1-associated familial high density lipoprotein deficiency10.6
9neuropathy10.5
10syringomyelia10.4
11amyloidosis, familial visceral10.3APOA1, APOA2
12arcus senilis10.2LCAT, APOA1
13niemann-pick disease, type c110.2NPC1, ABCA1
14secondary amyloidosis10.2LCAT, APOA1
15hypobetalipoproteinemia10.2APOA1, LCAT
16leprosy10.2
17eye disease10.2
18peripheral neuropathy10.2
19polyneuropathy10.2
20niemann-pick disease10.2LCAT, NPC1
21alagille syndrome10.1APOA1, LCAT
22peripheral vascular disease10.1CETP, APOA1
23coronary stenosis10.1CETP, APOA1
24norum disease10.1APOA2, APOA1, LCAT
25xanthomatosis10.1ABCA1, LPL
26werner syndrome10.0
27malaria10.0
28peripheral artery disease10.0
29neuronitis10.0
30tonsillitis10.0
31artery disease10.0
32pancreatitis10.0
33amyloid neuropathy10.0
34apo a-i deficiency10.0
35lewis-sumner syndrome10.0
36splenomegaly10.0ABCA1, LCAT
37arteriosclerosis10.0APOA1, LPL
38amyloidosis9.9APOA1, LPL, APOA2
39diabetes mellitus, insulin-dependent9.9APOA1, CETP, LCAT
40kidney disease9.9LCAT, LPL, APOA1
41hyperlipidemia type 39.9LPL, APOA1, CETP
42cerebrovascular disease9.8CETP, APOA1, LPL
43glucose intolerance9.8APOA1, LPL, CETP
44proteinuria9.8APOA1, LCAT, APOA2, CETP
45primary hyperoxaluria9.8LCAT, ABCA1, APOA1, CETP
46galactosemia9.8APOA1, CETP, LCAT, NPC1
47dementia9.7CETP, NPC1, LPL
48myocardial infarction9.7ABCA1, APOA1, APOA2, CETP, LCAT
49abetalipoproteinemia9.6APOA1, LPL, CETP, LCAT
50hypercholesterolemia, familial9.6CETP, LPL, LCAT, APOA1

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



Diseases related to tangier disease

Symptoms for Tangier Disease

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Symptoms by clinical synopsis from OMIM:

205400

Clinical features from OMIM:

205400

HPO human phenotypes related to Tangier Disease:

(show all 19)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 visual impairment HP:0000505
3 ectropion HP:0000656
4 dry skin HP:0000958
5 hyporeflexia HP:0001265
6 facial diplegia HP:0001349
7 myocardial infarction HP:0001658
8 left ventricular hypertrophy HP:0001712
9 splenomegaly HP:0001744
10 nail dysplasia HP:0002164
11 hepatomegaly HP:0002240
12 hypoalphalipoproteinemia HP:0003233
13 peripheral axonal neuropathy HP:0003477
14 distal amyotrophy HP:0003693
15 impaired pain sensation HP:0007328
16 opacification of the corneal stroma HP:0007759
17 nail dystrophy HP:0008404
18 impaired temperature sensation HP:0010829
19 peripheral demyelination HP:0011096

Drugs & Therapeutics for Tangier Disease

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Drug clinical trials:

Search ClinicalTrials for Tangier Disease

Search NIH Clinical Center for Tangier Disease

Genetic Tests for Tangier Disease

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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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MalaCards organs/tissues related to Tangier Disease:

31
Liver, Heart, Tonsil, Lymph node, Spleen, Eye, Skin, Testes, Spinal cord, Colon, Adipocyte, Dorsal root ganglion

Animal Models for Tangier Disease or affiliated genes

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MGI Mouse Phenotypes related to Tangier Disease:

35
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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Articles related to Tangier Disease:

(show top 50)    (show all 191)
idTitleAuthorsYear
1
Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene. (25875382)
2015
2
Recurrent lobar intracerebral hemorrhage in Tangier disease. (22133743)
2012
3
Homology modeling and functional testing of an ABCA1 mutation causing Tangier disease. (21763656)
2011
4
Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations. (19556721)
2009
5
A postmenopausal patient with Tangier disease developing SjAPgren's syndrome. (19208541)
2009
6
Images in cardiovascular medicine. Tangier disease in severely progressive coronary and peripheral artery disease. (19470903)
2009
7
Severe Tangier disease with a novel ABCA1 gene mutation. (18955690)
2008
8
POPC/apoA-I discs as a potent lipoprotein modulator in Tangier disease. (17560579)
2008
9
An unusual presentation of Tangier disease with gallbladder involvement. (19317282)
2008
10
Paranodal pathology in Tangier disease with remitting-relapsing multifocal neuropathy. (16678735)
2006
11
Tangier disease: still more questions than answers. (16235041)
2005
12
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
13
Confocal microscopy and corneal sensitivity in a patient with corneal manifestations of Tangier disease. (15502486)
2004
14
Molecular basis of cholesterol homeostasis: lessons from Tangier disease and ABCA1. (11927274)
2002
15
Coronary artery bypass grafting for a patient with Tangier disease. (12382407)
2002
16
Cellular cholesterol efflux is modulated by phospholipid-derived signaling molecules in familial HDL deficiency/Tangier disease fibroblasts. (11181755)
2001
17
Novel approaches to treating cardiovascular disease: lessons from Tangier disease. (11227043)
2001
18
Interferon-gamma induces downregulation of Tangier disease gene (ATP-binding-cassette transporter 1) in macrophage-derived foam cells. (10845873)
2000
19
Tangier disease and ABCA1. (11111099)
2000
20
The Tangier disease gene encodes yet another pathophysiologically relevant atp-binding cassette protein. (10655285)
2000
21
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. (10431236)
1999
22
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. (10431237)
1999
23
Digestive tract involvement in an infant and a child with Tangier disease. (9702662)
1998
24
Decreased reverse cholesterol transport from Tangier disease fibroblasts. Acceptor specificity and effect of brefeldin on lipid efflux. (9327782)
1997
25
The pathology of cornea in Tangier disease (familial high density lipoprotein deficiency). (8707957)
1996
26
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
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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UniProtKB/Swiss-Prot genetic disease variations for Tangier Disease:

63 (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:

5 (show all 18)
id Gene Variation 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.3865G> A (p.Asp1289Asn)single nucleotide variantPathogenicrs137854500GRCh37Chr 9, 107576435: 107576435
18ABCA1NM_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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Search GEO for disease gene expression data for Tangier Disease.

Pathways for genes affiliated with Tangier Disease

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Pathways related to Tangier Disease according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8APOA1, ABCA1
2
Show member pathways
Vitamin B12 Metabolism36
9.8APOA1, ABCA1
39.7ABCG1, ABCA1
4
Show member pathways
9.5ABCA1, CETP
5
Show member pathways
9.4APOA1, ABCG1, ABCA1
69.0ABCA1, ABCG1, APOA1, APOA2
7
Show member pathways
8.9LPL, APOA2, APOA1
8
Show member pathways
8.6ABCA1, APOA1, APOA2, LPL
9
Show member pathways
fatty acid beta-oxidation VI (peroxisome)36
8.4APOA1, APOA2, LPL, PLTP
10
Show member pathways
6.9ABCA1, APOA1, APOA2, CETP, LPL, PLTP
11
Show member pathways
6.5ABCA1, ABCG1, APOA1, APOA2, CETP, LPL
12
Show member pathways
6.5LCAT, ABCA1, ABCG1, APOA1, APOA2, CETP

Compounds for genes affiliated with Tangier Disease

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Compounds related to Tangier Disease according to GeneCards Suite gene sharing:

(show top 50)    (show all 85)
idCompoundScoreTop Affiliating Genes
1essentiale4410.0ABCA1, ABCG1
224(s),25-epoxycholesterol4410.0ABCA1, ABCG1
3pdpc449.9LCAT, APOA1
4plpc449.8APOA1, LCAT
51-palmitoyl-2-oleoylphosphatidylcholine449.7APOA1, CETP
63-hydroxy-3-methylglutaryl-coa44 2410.6NPC1, ABCG1, ABCA1
7dimyristoylphosphatidylcholine449.6LCAT, APOA1, APOA2
8ezetimibe44 1110.5ABCA1, CETP, APOA1
9cholesteryl linoleate449.5LCAT, CETP
10mspi449.4APOA2, APOA1, CETP
11torcetrapib449.4LCAT, CETP, APOA1
12trioleoylglycerol449.4APOA1, LPL
13acipimox44 2810.3CETP, APOA1, PLTP
14psyllium449.3CETP, LCAT
1522r-hydroxycholesterol44 2810.3ABCA1, PLTP, ABCG1, APOA1
16acetaldehyde28 44 2411.2CETP, APOA1, LCAT
17retinyl palmitate44 2410.2LPL, LCAT, APOA1
18sodium oleate449.1APOA1, LPL, CETP
19p-nitrophenyl butyrate449.0LCAT, LPL
20p-opc449.0CETP, APOA2, APOA1, LCAT
21fluvastatin44 50 28 1111.8APOA1, CETP, LPL
22niacin44 119.8ABCA1, APOA1, CETP, LPL
23stearic acid44 24 1110.7ABCA1, CETP, LPL
24gemfibrozil28 44 1110.7APOA1, APOA2, CETP, LPL
25pioglitazone28 44 50 1111.7LPL, APOA1, ABCA1
26oleic acid44 28 24 1111.6CETP, PLTP, ABCA1, LPL
27linoleic acid28 44 2410.6ABCA1, LCAT, LPL, CETP
28dextran sulfate448.5LPL, PLTP, APOA1, CETP
29palmitate448.5LPL, CETP, APOA1, LCAT
30vitamin a44 24 1110.5LCAT, LPL, CETP, APOA1
31dexamethasone44 50 28 1111.3ABCG1, LCAT, APOA1, ABCA1, LPL
32pravastatin44 50 28 24 1112.3ABCA1, APOA1, LCAT, CETP, LPL
33atorvastatin44 50 28 24 1112.2LCAT, APOA1, CETP, LPL, ABCA1
34retinoic acid44 249.2ABCA1, APOA1, PLTP, APOA2, ABCG1, CETP
35intralipid448.2CETP, LCAT, APOA1, APOA2, LPL
36sterol448.2LCAT, NPC1, ABCA1, ABCG1, CETP, APOA1
37testosterone44 60 24 1111.1APOA1, LPL, ABCA1, LCAT, CETP
38glucose448.0ABCG1, PLTP, LPL, APOA1, APOA2, ABCA1
39bezafibrate44 28 119.9APOA2, LCAT, ABCA1, APOA1, CETP, LPL
40fenofibrate44 50 119.9ABCA1, APOA1, APOA2, PLTP, LPL, CETP
41probucol44 118.8PLTP, LPL, CETP, APOA1, ABCA1, LCAT
42alpha tocopherol447.7LCAT, PLTP, LPL, ABCA1, APOA1, CETP
43simvastatin44 50 60 28 24 1112.7CETP, LCAT, PLTP, APOA1, ABCA1, LPL
44triacylglycerol447.7APOA2, LCAT, PLTP, LPL, CETP, APOA1
45cholesterol ester447.4ABCA1, APOA1, APOA2, CETP, LPL, PLTP
46fatty acid447.3LCAT, PLTP, LPL, APOA2, ABCG1, ABCA1
47phospholipid447.0LPL, ABCA1, ABCG1, APOA1, PLTP, CETP
48phosphatidylcholine446.5LPL, ABCA1, ABCG1, APOA1, APOA2, CETP
49cholesterol44 28 24 119.5LCAT, NPC1, LPL, PLTP, CETP, APOA2
50lipid446.5NPC1, LCAT, PLTP, ABCA1, LPL, ABCG1

GO Terms for genes affiliated with Tangier Disease

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Cellular components related to Tangier Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1spherical high-density lipoprotein particleGO:00343669.5APOA2, APOA1
2chylomicronGO:00426279.3LPL, APOA2
3very-low-density lipoprotein particleGO:00343618.8APOA1, APOA2, LPL
4high-density lipoprotein particleGO:00343648.7LCAT, CETP, APOA2, APOA1
5extracellular regionGO:00055766.8APOA1, APOA2, CETP, LPL, PLTP, LCAT

Biological processes related to Tangier Disease according to GeneCards Suite gene sharing:

(show all 34)
idNameGO IDScoreTop Affiliating Genes
1regulation of Cdc42 protein signal transductionGO:003248910.1ABCA1, APOA1
2negative regulation of lipase activityGO:006019210.1APOA1, APOA2
3negative regulation of very-low-density lipoprotein particle remodelingGO:001090310.0APOA1, APOA2
4regulation of intestinal cholesterol absorptionGO:003030010.0APOA1, APOA2
5negative regulation of cytokine secretion involved in immune responseGO:000274010.0APOA2, APOA1
6protein oxidationGO:001815810.0APOA1, APOA2
7negative regulation of cholesterol storageGO:00108879.9ABCG1, ABCA1
8high-density lipoprotein particle clearanceGO:00343849.9APOA1, APOA2
9peptidyl-methionine modificationGO:00182069.9APOA1, APOA2
10intracellular cholesterol transportGO:00323679.8ABCG1, ABCA1
11lipoprotein biosynthetic processGO:00421589.8LCAT, APOA1
12high-density lipoprotein particle assemblyGO:00343809.8APOA1, APOA2, ABCA1
13positive regulation of cholesterol esterificationGO:00108739.7APOA2, APOA1
14phosphatidylcholine biosynthetic processGO:00066569.6APOA2, LCAT, APOA1
15negative regulation of macrophage derived foam cell differentiationGO:00107459.5CETP, ABCG1, ABCA1
16positive regulation of cholesterol effluxGO:00108759.4ABCA1, ABCG1
17cellular lipid metabolic processGO:00442559.4APOA2, ABCA1, APOA1
18low-density lipoprotein particle remodelingGO:00343749.4ABCG1, APOA2, CETP
19phospholipid effluxGO:00337009.4ABCG1, APOA1, APOA2, ABCA1
20retinoid metabolic processGO:00015239.2APOA2, LPL, APOA1
21phospholipid homeostasisGO:00550919.2ABCA1, ABCG1, APOA1, CETP
22triglyceride homeostasisGO:00703289.0APOA1, CETP, LPL
23triglyceride metabolic processGO:00066419.0CETP, LPL, APOA2
24cholesterol effluxGO:00333449.0ABCG1, ABCA1, NPC1, APOA1, APOA2
25phototransduction, visible lightGO:00076038.9APOA2, LPL, APOA1
26cholesterol transportGO:00303018.9CETP, APOA1, NPC1, LCAT
27very-low-density lipoprotein particle remodelingGO:00343728.9CETP, LPL, LCAT
28high-density lipoprotein particle remodelingGO:00343758.6CETP, APOA2, APOA1, LCAT, ABCG1
29response to drugGO:00424938.5NPC1, LPL, APOA2, APOA1, ABCA1
30reverse cholesterol transportGO:00436918.3APOA2, CETP, LCAT, ABCA1, ABCG1, APOA1
31cholesterol metabolic processGO:00082037.8NPC1, ABCG1, ABCA1, APOA1, APOA2, LCAT
32cholesterol homeostasisGO:00426327.8ABCA1, ABCG1, APOA1, APOA2, CETP, LCAT
33lipoprotein metabolic processGO:00421577.5LCAT, ABCG1, APOA1, APOA2, ABCA1, CETP
34small molecule metabolic processGO:00442817.4APOA1, LCAT, LPL, ABCG1, APOA2, CETP

Molecular functions related to Tangier Disease according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particle receptor bindingGO:007065310.0APOA1, APOA2
2apolipoprotein receptor bindingGO:003419010.0APOA1, APOA2
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.9APOA2, APOA1
4lipase inhibitor activityGO:00551029.9APOA2, APOA1
5high-density lipoprotein particle bindingGO:00080359.9APOA1, APOA2
6apolipoprotein A-I bindingGO:00341869.8ABCA1, LCAT
7phosphatidylcholine bindingGO:00312109.4APOA2, CETP
8apolipoprotein bindingGO:00341859.3ABCA1, LPL
9phospholipid bindingGO:00055439.3ABCA1, ABCG1, APOA1, APOA2
10triglyceride bindingGO:00171299.3LPL, CETP
11lipid transporter activityGO:00053199.2CETP, APOA2
12phospholipid transporter activityGO:00055489.1ABCA1, ABCG1, APOA1, CETP
13lipid bindingGO:00082899.0PLTP, CETP, APOA2
14cholesterol transporter activityGO:00171278.7ABCA1, ABCG1, APOA1, APOA2, CETP
15cholesterol bindingGO:00154858.2NPC1, CETP, APOA2, APOA1, ABCG1, ABCA1
16protein bindingGO:00055157.2ABCG1, APOA1, APOA2, LPL, LCAT, NPC1

Sources for Tangier Disease

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet