Tangier Disease malady

Genetics Home Reference: 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.¹⁷

MalaCards: Tangier Disease, also known as familial high density lipoprotein deficiency disease, is related to fish-eye disease and apo a-i deficiency. An important gene associated with Tangier Disease is ABCA1 (ATP-binding cassette, sub-family A (ABC1), member 1), and among its related pathways are Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF) and Fat digestion and absorption. The compounds fenofibric acid and 22r-hydroxycholesterol have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and b cells, and related mouse phenotypes are endocrine/exocrine gland and liver/biliary system.

NIH Rare Diseases: 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.³⁰

Wikipedia: Tangier disease (also known as \"Familial alpha-lipoprotein deficiency\") or Hypoalphalipoproteinemia is...⁴⁴ more...

OMIM: 205400

Aliases & Descriptions:

tangier disease 6 7 30 16 17 8 33 32 43 familial high density lipoprotein deficiency disease 30 16 17 alpha high density lipoprotein deficiency disease 30 17 hdl lipoprotein deficiency disease 30 17 familial hypoalphalipo-proteinemia 30 16 familial hypoalphalipoproteinemia 6 17 a-alphalipoprotein neuropathy 30 17 cholesterol thesaurismosis 30 17 familial hdl deficiency 16 43 carbamoyl-phosphate synthase i deficiency disease 43

high density lipoprotein deficiency, tangier type 30 lipoprotein deficiency disease, hdl, familial 17 familial high density lipoprotein deficiency 6 high density lipoprotein deficiency, type 1 30 familial alpha-lipoprotein deficiency 6 hypoalphalipoproteinemia, familial 43 familial lipoprotein deficiency 43 analphalipo-proteinemia 30 analphalipoproteinemia 17 hdldt1 30

Diseases related to tangier disease by text searches and GeneDecks gene sharing:

(show top 50)    (show all 229)

id	Related Disease	Score	Top Affiliating Genes
1	fish-eye disease	32.0	LCAT, APOA1, APOA2
2	apo a-i deficiency	29.3	APOA1, ALB
3	hypoalphalipoproteinemia	27.9	LPA, LPL, LCAT, CETP, APOA1, APOA2
4	coronary heart disease	25.5	SELP, LPA, LPL, CLU, LCAT, CETP
5	cholesterol	22.3	SELP, LPA, LPL, RAC1, CLU, LCAT
6	atherosclerosis	21.1	SELP, LPA, LPL, RAC1, CLU, LCAT
7	norum disease	13.7	LCAT, APOA1, APOA2
8	strawberry gallbladder	13.7	APOA1, APOB
9	combined hyperlipemia	13.6	LPL, APOA1, APOB
10	lipid metabolism disorder	13.6	LPL, APOA1, APOB
11	familial combined hyperlipidemia	13.6	APOA1, APOB, APOE
12	defective apolipoprotein b-100	13.6	LCAT, APOB, APOE
13	coronary arteriosclerosis	13.6	APOA1, APOB, APOE
14	hyperlipoproteinemia type v	13.6	LPL, APOE
15	hepatic lipase deficiency	13.5	LPL, LCAT, APOA1, APOE
16	cherubism	13.5	LPL, LCAT, CETP, APOB
17	sitosterolemia	13.5	APOB, ABCG1, ABCG5
18	alcohol abuse	13.5	LCAT, CETP, APOA1, PLTP
19	amyloid tumor	13.4	APOA2, APOE, ABCA1
20	niemann–pick disease	13.4	LCAT, ABCA1, NPC1
21	intrahepatic cholestasis	13.4	LPL, LCAT, CETP, APOE
22	amyloidosis, secondary	13.4	LPA, LCAT, APOA1
23	age-related maculopathy	13.4	APOB, APOE, ABCA4
24	glucose intolerance	13.3	LPL, CETP, APOA1, APOB, PPARG
25	arcus senilis	13.3	LCAT, APOA2
26	carotid intimal medial thickness	13.3	LPL, CETP, APOC3, PPARG
27	hyperinsulinism	13.3	LPL, APOB, PPARG, PPARA
28	surfactant deficiency	13.3	ABCA1, ABCA3, ABCA4
29	biliary tract cancer	13.3	CETP, APOB, APOE, PPARG
30	hypothyroidism	13.3	LPA, CETP, APOB
31	carotid artery disease	13.2	LPA, APOA1, APOA2, APOB, APOE
32	abetalipoproteinemia	13.2	LPA, LCAT, APOA1, APOB, APOE
33	aortic valve stenosis	13.1	LPA, APOA1, APOB, APOE, PLTP
34	short limb dwarf edema iris coloboma	13.1	ALB, PPARG, PPARA
35	stickler syndrome	13.1	LCAT, APOA1, APOA2, PPARA, ABCA4
36	familial hypertriglyceridemia	13.1	LPL, APOA1, APOA2, APOB, APOC3, APOE
37	lipoprotein glomerulopathy	13.1	LCAT, APOB, APOE, ALB
38	metabolic syndrome x	13.1	LPL, ALB, PPARG
39	xanthomatosis	13.1	LPA, LPL, APOA1, APOB, APOE, ABCA1
40	hyperlipidemia type 3	13.1	LPA, LPL, CETP, APOA1, APOB, APOE
41	was-related disorders	13.0	LPL, CETP, APOA1, APOB, APOC3, APOE
42	hereditary diffuse leukoencephalopathy with spheroids	13.0	LPA, LCAT, CETP, APOA1, APOA2, APOB
43	nephrosis	13.0	LPL, APOA1, APOA2, APOB, ALB
44	gallbladder disease	13.0	CETP, APOA1, APOB, APOE, ALB
45	chronic kidney failure	13.0	LPL, APOC3, ALB
46	cetp deficiency	13.0	LPL, LCAT, CETP, APOA1, APOA2, APOB
47	familial hypercholesterolemia	12.9	LPA, LPL, LCAT, CETP, APOA1, APOB
48	arterial calcification	12.9	CETP, APOA1, APOB, ALB, PPARG
49	aortic atherosclerosis	12.9	LPL, LCAT, CETP, APOB, APOE, PPARG
50	congenital heart defect	12.9	LPA, CLU, CETP, APOA1, APOB, PPARA

Clinical features from OMIM: 205400

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to tangier disease:

²²

MGI Mouse Phenotypes related to tangier disease:

²⁵ (show all 12)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland phenotype	MP:0005379	10.1	PITPNA, ABCD1
2	liver/biliary system phenotype	MP:0005370	9.5	NPC1, ABCG5, ABCG1, ABCA1, PITPNA, APOB
3	adipose tissue phenotype	MP:0005375	9.1	NPC1, ABCG1, ABCA7, PITPNA, PPARA, PPARG
4	vision/eye phenotype	MP:0005391	8.3	NPC1, ABCA4, RHOB, PLTP, PPARG, APOE
5	renal/urinary system phenotype	MP:0005367	8.1	ABCG1, ABCA7, ABCA3, ABCA1, PPARG, ALB
6	nervous system phenotype	MP:0003631	7.9	NPC1, ABCA4, RHOG, RHOA, PITPNA, TERT
7	mortality/aging	MP:0010768	7.2	ABCA1, ABCA12, ABCA3, ABCG5, NPC1, PITPNA
8	immune system phenotype	MP:0005387	7.1	PLCG1, RHOG, ABCA1, ABCD1, ABCG1, ABCG5
9	cardiovascular system phenotype	MP:0005385	6.7	PPARA, PLCG1, RHOB, ABCA1, ABCA12, ABCA3
10	growth/size phenotype	MP:0005378	6.5	PLCG1, PLCB1, PITPNA, RHOB, ABCA1, ABCA12
11	cellular phenotype	MP:0005384	6.5	RHOB, RHOG, ABCA1, ABCA12, ABCG1, ABCG4
12	homeostasis/metabolism phenotype	MP:0005376	4.4	SELP, PITPNA, RHOB, ABCA1, ABCA12, ABCA3

Articles related to tangier disease:

(show all 48)

id	Title	Authors	Year	Affiliating Genes
1	Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C. (19765707)	Cameron J.... Berge K.E.	2010	ABCA1
2	Multiple abnormally spliced ABCA1 mRNAs caused by a n ovel splice site mutation of ABCA1 gene in a patient with Tangier disease. (20093111)	Bocchi L.... Calandra S.	2010	ABCA1
3	Impaired insulin secretion in four Tangier disease pa tients with ABCA1 mutations. (19556721)	Koseki M.... Yamashita S.	2009	ABCA1
4	A novel missense mutation of ABCA1 in transmembrane a lpha-helix in a Japanese patient with Tangier disease. (19344898)	Maekawa M.... Sakurabayashi I.	2009	ABCA1
5	Severe Tangier disease with a novel ABCA1 gene mutation. (18955690)	Schippling S.... Seedorf U.	2008	ABCA1
6	Lewis-Sumner syndrome and Tangier disease. (18625867)	ThAcaudin M.... Le Forestier N.	2008	ABCA1
7	Tangier disease four decades of research: a reflection of the importance of HDL. (16611066)	Kolovou G.D.... Cokkinos D.V.	2006	ABCA1
8	Tangier disease: still more questions than answers. (16235041)	Nofer J.R.... Remaley A.T.	2005	ABCA1
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)	Walter M.... Roth M.G.	2004	TERT, ABCA1, APOA1
10	Impaired platelet activation in familial high density lipoprotein deficiency (Tangier disease). (15163665)	Nofer J.R.... Kehrel B.E.	2004	SELP, ABCA1, GP6
11	A case of Tangier disease with a novel mutation in the C-terminal region of ATP-binding cassette transporter A1. (15384103)	Guan J.Z.... Hayden M.R.	2004	ABCA1
12	The ABCA1 transporter modulates late endocytic trafficking: insights from the correction of the genetic defect in Tangier disease. (14747463)	Neufeld E.B.... Brewer H.B.	2004	ABCA1, APOA1, NPC1
13	Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene. (12576507)	Altilia S.... Calandra S.	2003	ABCA1
14	A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease. (12615648)	ZA1chner S.... SchrAPder J.M.	2003	ABCA1
15	Molecular basis of cholesterol homeostasis: lessons from Tangier disease and ABCA1. (11927274)	Oram J.F.	2002	ABCA1
16	Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis. (12111371)	Ishii J.... Emi M.	2002	ABCA1
17	Double deletions and missense mutations in the first nucleotide- binding fold of the ATP-binding cassette transporter A1 (ABCA1) gene in Japanese patients with Tangier disease. (12111381)	Guo Z.... Mabuchi H.	2002	ABCA1
18	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)	Utech M.... Walter M.	2001	RAC1, RHOA, ABCA1
19	Accumulation of cardiolipin and lysocardiolipin in fibroblasts from Tangier disease subjects. (11445077)	Fobker M.... Walter M.	2001	ABCA1
20	Expression of the ATP-binding cassette transporter gene ABCG1 (ABC8) in Tangier disease. (11350058)	Lorkowski S.... Cullen P.	2001	ABCA1, ABCG1
21	Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease. (11476965)	Huang W.... Sasaki J.	2001	ABCA1
22	A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease. (11257260)	Bertolini S.... Calandra S.	2001	ABCA1
23	Tangier disease and ABCA1. (11111099)	Oram J.F.	2000	ABCA1
24	ABC1: the gene for Tangier disease and beyond. (10812922)	Ordovas J.M.	2000	ABCA1
25	Cellular cholesterol efflux in heterozygotes for tangier disease is markedly reduced and correlates with high density lipoprotein cholesterol concentration and particle size. (10884295)	Brousseau M.E.... Freeman M.W.	2000	ABCA1
26	Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice. (10655069)	OrsA^ E.... Schmitz G.	2000	ABCA1
27	Cholesterol efflux from normal and Tangier disease fibroblasts into normal, high-density lipoprotein-deficient, and apolipoprotein E-deficient plasmas. (10877205)	Schuler-LA1ttmann S.... von Eckardstein A.	2000	APOE
28	Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds. (10706591)	Brousseau M.E.... Gu J.Z.	2000	ABCA1
29	Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. (10431236)	Brooks-Wilson A.... Hayden M.R.	1999	ABCA1
30	The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway. (10525055)	Lawn R.M.... Oram J.F.	1999	ABCA1
31	Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred. (10535983)	Remaley A.T.... Brewer H.B.	1999	ABCA1
32	Tangier disease is caused by mutations in the gene encoding ATP- binding cassette transporter 1. (10431238)	Rust S.... Assmann G.	1999	ABCA1
33	Growth and cell cycle abnormalities of fibroblasts from Tangier disease patients. (9888863)	Drobnik W.... Schmitz G.	1999	PLCG1, ARF1, PLCB1
34	The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. (10431237)	Bodzioch M.... Schmitz G.	1999	ABCA1
35	Plasma and fibroblasts of Tangier disease patients are disturbed in transferring phospholipids onto apolipoprotein A-I. (9610765)	von Eckardstein A.... Assmann G.	1998	APOA1, APOA2
36	Lipid-free apolipoprotein (apo) A-I is converted into alpha-migrating high density lipoproteins by lipoprotein-depleted plasma of normolipidemic donors and apo A-I-deficient patients but not of Tangier disease patients. (9678768)	von Eckardstein A.... Assmann G.	1998	ALB, APOA1
37	Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy. (9731541)	Rust S.... Assmann G.	1998	ABCA1
38	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)	Walter M.... Assmann G.	1996	APOA1, LPA
39	Generation of pre-beta 1-HDL and conversion into alpha-HDL. Evidence for disturbed HDL conversion in Tangier disease. (7583552)	Huang Y.... Assmann G.	1995	LCAT
40	Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier Disease. (7615839)	Francis G.A.... Oram J.F.	1995	APOA1
41	Elevated complement activities of sera from patients with high density lipoprotein deficiency (Tangier disease): the presence of normal level of clusterin and the possible implication in the atherosclerosis. (8348751)	Choi-Miura N.H.... Tomita M.	1993	CLU, APOA1, APOA2
42	Tangier disease: isolation and characterization of LpA-I, LpA-II, LpA-I: A-II and LpA-IV particles from plasma. (8347683)	Duchateau P.... Castro G.R.	1993	APOA1, LCAT, APOA2
43	Characterization of apolipoprotein A-I- and A-II-containing lipoproteins in a new case of high density lipoprotein deficiency resembling Tangier disease and their effects on intracellular cholesterol efflux. (8432861)	Cheung M.C.... Knopp R.H.	1993	APOA1
44	A discrepancy between in vivo and in vitro lipoprotein lipase activity in a patient with Tangier disease. (1769125)	Takizawa A.... Tanaka A.	1991	LPL
45	Isolation and characterization of an apoA-II-containing lipoprotein (LP-A-II:B complex) from plasma very low density lipoproteins of patients with Tangier disease and type V hyperlipoproteinemia. (1901345)	Alaupovic P.... Gregg R.E.	1991	LPL
46	In vivo metabolism of proapolipoprotein A-I in Tangier disease. (3119665)	Bojanovski D.... Brewer H.B.	1987	APOA1
47	Tangier disease. The complete mRNA sequence encoding for preproapo-A- I. (2995392)	Law S.W.... Brewer H.B. Jr.	1985	APOA1
48	Tangier disease: defective recombination of a specific Tangier apolipoprotein A-I isoform (pro-apo A-I) with high density lipoproteins. (6412234)	Schmitz G.... Mahley R.W.	1983	APOA1

Genes related to tangier disease according to GeneCards:

(show all 38)

id	Symbol	Description	Score	GeneCards Section Context
1	ABCA1	ATP-binding cassette, sub-family A (ABC1), member 1	11.1	Publications, Summaries
2	APOA1	apolipoprotein A-I	11.1	Summaries, Publications
3	APOA2	apolipoprotein A-II	11.0	Publications
4	PLTP	phospholipid transfer protein	11.0
5	NPC1	Niemann-Pick disease, type C1	11.0	Publications
6	ABCG1	ATP-binding cassette, sub-family G (WHITE), member 1	11.0	Publications, Expressions
7	LCAT	lecithin-cholesterol acyltransferase	11.0	Publications
8	LPL	lipoprotein lipase	11.0	Publications
9	CETP	cholesteryl ester transfer protein, plasma	11.0	Publications
10	PLCG1	phospholipase C, gamma 1	11.0	Publications
11	APOE	apolipoprotein E	11.0	Publications
12	APOB	apolipoprotein B (including Ag(x) antigen)	11.0
13	PPARG	peroxisome proliferator-activated receptor gamma	11.0
14	PPARA	peroxisome proliferator-activated receptor alpha	11.0
15	NIPSNAP3B	nipsnap homolog 3B (C. elegans)	11.0	Disorders
16	RHOG	ras homolog family member G	11.0	Publications
17	NIPSNAP3A	nipsnap homolog 3A (C. elegans)	11.0	Disorders
18	PITPNA	phosphatidylinositol transfer protein, alpha	11.0	Publications
19	ABCG4	ATP-binding cassette, sub-family G (WHITE), member 4	11.0
20	RHOB	ras homolog family member B	11.0	Publications
21	ARF1	ADP-ribosylation factor 1	11.0	Publications
22	ABCD1	ATP-binding cassette, sub-family D (ALD), member 1	11.0	Publications
23	ABCG5	ATP-binding cassette, sub-family G (WHITE), member 5	11.0
24	ABCA7	ATP-binding cassette, sub-family A (ABC1), member 7	11.0
25	GP6	glycoprotein VI (platelet)	11.0	Publications
26	CLU	clusterin	11.0	Publications
27	APOC3	apolipoprotein C-III	11.0
28	ABCA3	ATP-binding cassette, sub-family A (ABC1), member 3	11.0
29	RHOA	ras homolog family member A	11.0	Publications
30	RAC1	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	11.0	Publications
31	ABCA12	ATP-binding cassette, sub-family A (ABC1), member 12	11.0
32	ABCA4	ATP-binding cassette, sub-family A (ABC1), member 4	11.0
33	LPA	lipoprotein, Lp(a)	11.0	Publications
34	TERT	telomerase reverse transcriptase	11.0	Publications
35	SELP	selectin P (granule membrane protein 140kDa, antigen CD62)	11.0	Publications
36	ABCA13	ATP-binding cassette, sub-family A (ABC1), member 13	11.0
37	PLCB1	phospholipase C, beta 1 (phosphoinositide-specific)	11.0	Publications
38	ALB	albumin	11.0	Publications

Pathways related to tangier disease according to GeneDecks:

(show all 15)

id	Pathway	Score	Top Affiliating Genes
1	Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)41	10.1	ABCA1, ARF1, CETP
2	Fat digestion and absorption20	10.1	APOA1, APOB, ABCA1, ABCG5
3	Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)41	10.0	APOA1, APOA2, ABCA1, ABCA7, ABCG1
4	ABCA transporters in lipid homeostasis38	10.0	ABCG4, ABCA7, ABCA3
5	LDL-mediated lipid transport38	9.9	LPA, CETP
6	PPAR signaling pathway20	9.7	PLTP, PPARA, PPARG, APOC3, APOA2, APOA1
7	Statin Pathway, Pharmacodynamics34	9.5	ABCG5, PLTP, APOE, APOC3, APOB, APOA1
8	Selected targets of C/EBPalpha10	9.4	CETP, APOB, ALB
9	Selected targets of HNF110	9.3	ABCA1, ALB, APOB, APOA2, APOA1, LPA
10	Axon guidance38	9.2	RHOG, RHOB, RHOA, PITPNA, RAC1
11	Cytoskeleton remodeling_FAK signaling41	9.0	RHOA, PLCB1, PLCG1, RAC1
12	Cytoskeleton remodeling FAK signaling10	9.0	RHOA, PLCB1, PLCG1, RAC1
13	Wnt Signaling Pathway37	8.8	RAC1, PLCB1, RHOA, RHOB
14	Metabolism of lipids and lipoproteins38	8.7	ABCG5, ABCG1, ABCD1, PPARA, ALB, APOE
15	ABC transporters20	8.1	ABCA1, ABCG5, ABCG4, ABCA12, ABCA13, ABCA3

Compounds related to tangier disease according to GeneDecks:

(show top 50)    (show all 174)

id	Compound	Score	Top Affiliating Genes
1	fenofibric acid32	10.4	PPARA, APOC3
2	22r-hydroxycholesterol32	10.2	APOE, PLTP, ABCA1, APOA1, ABCG1
3	retinyl palmitate32 18	11.0	APOB, LCAT, LPL, APOA1, APOE
4	ciprofibrate32	10.0	LPL, APOA1, APOB, PPARG, PPARA
5	ezetimibe32 9 9	11.9	ABCG5, PPARA, APOB, APOA1, CETP, ABCA1
6	probucol32 9 9	11.8	PLTP, PPARA, APOE, APOB, APOA1, CETP
7	intralipid32	9.7	LCAT, LPL, APOE, APOC3, APOB, APOA2
8	cholestyramine32	9.7	LPA, CETP, APOC3, APOB, APOE
9	xbai32	9.7	APOE, APOC3, APOB, CETP, LPL
10	dimyristoylphosphatidylcholine32	9.6	LPA, LCAT, APOA1, APOA2, APOE
11	mspi32	9.6	APOA1, CETP, APOC3, LPA, APOA2, APOB
12	sele32	9.6	LPL, SELP, CETP, APOC3, APOE
13	niacin32 9 9	11.5	LPA, APOA1, PPARA, PPARG, APOB, ABCA1
14	triacylglycerol32	9.5	APOB, APOA2, APOC3, APOE, PPARA, PLTP
15	testosterone32 9 18 9	12.4	LCAT, CLU, CETP, APOA1, ABCA1, APOE
16	rosiglitazone32 9 18 9	12.3	APOC3, LPA, LPL, APOB, APOE, PPARG
17	alpha tocopherol32	9.2	CETP, APOB, APOA1, APOE, LCAT, LPL
18	sterol32	9.2	ABCG5, NPC1, ABCG1, ABCA7, CETP, APOA1
19	gemfibrozil32 9 9	11.2	LPA, LPL, CETP, APOA1, APOA2, APOB
20	dextran sulfate32	9.1	APOA1, APOB, PLTP, SELP, ALB, LPL
21	oleic acid32 9 18 9	12.1	CETP, PPARA, ALB, APOB, LPL, LPA
22	stearic acid32 9 18 9	12.0	PPARA, PPARG, ALB, CETP, LPL, SELP
23	cholesterol ester32	9.0	ABCA1, CETP, APOA1, APOA2, APOB, APOC3
24	palmitate32	9.0	LPL, LCAT, CETP, APOA1, APOB, APOE
25	bezafibrate32 9 9	10.9	PPARG, PPARA, ABCA1, APOE, APOC3, APOB
26	fluvastatin32 34 9 9	11.9	SELP, LPL, RAC1, APOB, CETP, APOA1
27	thyroxine32 18	9.9	LPA, LPL, ALB, CETP, APOA1, APOB
28	aspirin32 34 18	10.8	SELP, LPA, CETP, APOA1, APOB, GP6
29	fatty acid32	8.8	PPARA, PLCB1, PLTP, ABCD1, ABCG1, APOA2
30	pravastatin32 34 9 18 9	12.6	SELP, LPA, RAC1, LCAT, CETP, APOA1
31	lovastatin32 42 9 9	11.6	CETP, APOA1, APOB, APOC3, APOE, RHOA
32	fenofibrate32 9 9	10.6	PLTP, ABCA1, PPARA, PPARG, SELP, LPA
33	cycloheximide32	8.4	RHOB, ABCA1, PPARA, PPARG, RHOA, APOE
34	vitamin a32 9 18 9	11.4	LPL, ABCA4, LCAT, CETP, APOA1, APOB
35	homocysteine32 18	9.4	ALB, APOE, APOB, SELP, LPA, CLU
36	genistein32 9 18 9	11.3	RAC1, ABCA1, RHOA, APOA1, PLCG1, PPARA
37	simvastatin32 34 42 9 18 9	13.1	APOE, PPARG, PPARA, PLTP, RHOA, ABCA1
38	dexamethasone32 42 34 9 9	11.9	APOB, PPARA, APOA1, CLU, LPL, SELP
39	atorvastatin32 34 9 18 9	11.9	LPL, SELP, LPA, ABCA1, RHOA, LCAT
40	fibrinogen32	7.8	APOB, APOC3, GP6, ABCA1, ALB, APOA1
41	heparin32 9 18 9	10.7	LPA, SELP, CLU, LCAT, LPL, APOE
42	retinoic acid32 42 18	9.6	PLTP, RHOA, ABCA1, PPARA, PLCG1, ABCG1
43	alanine32	7.5	PPARG, APOA1, GP6, PLCG1, PPARA, PLTP
44	estrogen32	7.1	APOA2, RAC1, CLU, LCAT, CETP, APOA1
45	cysteine32	7.1	PLTP, CLU, SELP, LPA, RAC1, LCAT
46	phosphatidylcholine32	7.1	LPA, LPL, PLCB1, PLTP, PITPNA, RHOA
47	phospholipid32	7.0	CETP, LCAT, CLU, LPL, PLCB1, ABCA7
48	serine32	6.7	APOE, CLU, LCAT, CETP, APOA1, APOA2
49	cholesterol32 9 18 9	7.2	SELP, LPA, LPL, RAC1, CLU, LCAT
50	lipid32	3.3	PLTP, ABCD1, ABCG1, ABCG5, NPC1, ABCA4

Cellular components related to tangier disease according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	high-density lipoprotein particle	GO:034364	10.0	LCAT, CETP, APOA1, APOA2, APOE
2	intermediate-density lipoprotein particle	GO:034363	9.9	APOB, APOC3, APOE
3	chylomicron	GO:042627	9.8	APOE, APOC3, APOB, APOA2, LPL
4	spherical high-density lipoprotein particle	GO:034366	9.8	APOC3, APOA2, APOA1, CLU
5	very-low-density lipoprotein particle	GO:034361	9.8	LPL, APOA1, APOA2, APOB, APOC3, APOE
6	extracellular space	GO:005615	8.1	APOE, APOC3, APOB, APOA1, CETP, LCAT
7	extracellular region	GO:005576	7.6	APOC3, APOE, ALB, PLTP, NPC1, APOB
8	plasma membrane	GO:005886	6.3	RHOG, ABCA1, ABCA3, ABCA4, ABCA7, ABCG1

Biological processes related to tangier disease according to GeneDecks:

(show all 44)

id	Name	GO ID	Score	Top Affiliating Genes
1	high-density lipoprotein particle clearance	GO:034384	10.5	APOA1, APOA2, APOE
2	positive regulation of cholesterol esterification	GO:010873	10.5	APOE, APOA2, APOA1
3	lipoprotein biosynthetic process	GO:042158	10.4	LCAT, APOA1, APOB
4	high-density lipoprotein particle assembly	GO:034380	10.4	ABCA1, APOE, APOA2, APOA1
5	response to low-density lipoprotein particle stimulus	GO:055098	10.4	ABCA1, PPARG
6	phospholipid homeostasis	GO:055091	10.4	CETP, APOA1, ABCA1, ABCG1
7	regulation of intestinal cholesterol absorption	GO:030300	10.4	APOA2, APOA1
8	negative regulation of receptor biosynthetic process	GO:010871	10.4	PPARG, PPARA
9	negative regulation of cholesterol import	GO:060621	10.4	APOA2, APOC3
10	phosphatidylcholine biosynthetic process	GO:006656	10.4	APOA2, APOA1, LCAT
11	negative regulation of very-low-density lipoprotein particle remodeling	GO:010903	10.4	APOC3, APOA2, APOA1
12	low-density lipoprotein particle remodeling	GO:034374	10.3	CETP, APOA2, APOB, ABCG1
13	very-low-density lipoprotein particle remodeling	GO:034372	10.3	APOE, CETP, LCAT, LPL
14	negative regulation of cholesterol storage	GO:010887	10.3	PPARG, PPARA, ABCA1, ABCG1
15	positive regulation of fatty acid oxidation	GO:046321	10.3	PPARA, PPARG
16	cholesterol transport	GO:030301	10.3	NPC1, APOB, APOA1, CETP, LCAT
17	Cdc42 protein signal transduction	GO:032488	10.3	ABCA1, APOE, APOC3, APOA1
18	intracellular cholesterol transport	GO:032367	10.3	ABCA1, ABCG1
19	negative regulation of sequestering of triglyceride	GO:010891	10.2	PPARA, PPARG
20	negative regulation of macrophage derived foam cell differentiation	GO:010745	10.2	ABCG1, ABCA1, PPARA, PPARG, CETP
21	triglyceride catabolic process	GO:019433	10.2	APOC3, APOB, LPL
22	triglyceride homeostasis	GO:070328	10.2	APOC3, APOA1, CETP, LPL
23	negative regulation of cytokine secretion involved in immune response	GO:002740	10.2	APOA1, APOA2
24	cellular lipid metabolic process	GO:044255	10.1	ABCD1, ABCA1, PPARA, APOA2, APOA1
25	triglyceride metabolic process	GO:006641	10.1	APOE, APOC3, APOA2, CETP, LPL
26	phospholipid efflux	GO:033700	10.0	ABCG1, ABCA1, APOE, APOC3, APOA2, APOA1
27	receptor-mediated endocytosis	GO:006898	10.0	LPA, CETP, APOB, APOE
28	protein oxidation	GO:018158	10.0	APOA1, APOA2
29	high-density lipoprotein particle remodeling	GO:034375	9.9	ABCG1, APOE, APOC3, APOA2, APOA1, CETP
30	lipid transport	GO:006869	9.8	ABCA12, PLTP, CETP, LPA
31	response to drug	GO:042493	9.8	NPC1, ABCG5, ABCA3, PPARG, APOA2, LPL
32	reverse cholesterol transport	GO:043691	9.6	ABCG1, ABCA1, APOE, APOC3, APOA2, APOA1
33	cholesterol metabolic process	GO:008203	9.6	ABCG1, ABCA1, APOE, APOC3, APOB, APOA2
34	cholesterol efflux	GO:033344	9.5	APOA1, APOA2, NPC1, ABCG5, ABCG4, ABCG1
35	leukocyte migration	GO:050900	9.4	PLCG1, GP6, APOB, SELP
36	axon guidance	GO:007411	9.4	RHOG, RHOB, RHOA, PITPNA, PLCG1, RAC1
37	cholesterol homeostasis	GO:042632	9.3	NPC1, ABCG5, ABCG1, ABCA1, APOE, APOC3
38	platelet degranulation	GO:002576	9.3	SELP, CLU, APOA1, ALB
39	transmembrane transport	GO:055085	8.6	ABCG5, ABCG4, ABCG1, ABCD1, ABCA7, ABCA4
40	lipoprotein metabolic process	GO:042157	8.4	LPA, ABCG1, ABCA1, PPARA, ALB, APOE
41	platelet activation	GO:030168	8.3	RHOG, RHOB, RHOA, ALB, GP6, APOA1
42	blood coagulation	GO:007596	8.0	RHOG, RHOB, RHOA, PLCG1, ALB, GP6
43	small molecule metabolic process	GO:044281	7.8	APOE, ALB, PPARA, ABCA1, ABCD1, ABCG1
44	lipid metabolic process	GO:006629	7.5	LPA, ABCA1, PITPNA, PLTP, PPARA, PPARG

Molecular functions related to tangier disease according to GeneDecks:

(show all 20)

id	Name	GO ID	Score	Top Affiliating Genes
1	phospholipid transporter activity	GO:005548	10.4	ABCG1, ABCA1, CETP
2	phosphatidylcholine-sterol O-acyltransferase activator activity	GO:060228	10.4	APOE, APOA2, APOA1
3	triglyceride binding	GO:017129	10.4	LPL, CETP
4	apolipoprotein A-I binding	GO:034186	10.3	LCAT, ABCA1
5	lipid transporter activity	GO:005319	10.3	CETP, APOA2, APOE
6	high-density lipoprotein particle receptor binding	GO:070653	10.3	APOC3, APOA2, APOA1
7	lipase inhibitor activity	GO:055102	10.1	APOA2, APOC3
8	apolipoprotein receptor binding	GO:034190	10.0	APOA1, APOA2
9	lipid binding	GO:008289	10.0	PITPNA, PLTP, PPARA, APOE, APOA2, CETP
10	cholesterol binding	GO:015485	9.9	NPC1, ABCG1, ABCA1, APOC3, APOA2, APOA1
11	protein heterodimerization activity	GO:046982	9.7	ABCG5, ABCG4, ABCG1, APOE, APOB, APOA2
12	ATPase activity, coupled to transmembrane movement of substances	GO:042626	9.7	ABCD1, ABCA4, ABCA3
13	cholesterol transporter activity	GO:017127	9.7	CETP, ABCG5, ABCG4, ABCG1, ABCA1, APOB
14	phospholipid binding	GO:005543	9.6	ABCG1, ABCA1, PLCG1, APOE, APOC3, APOB
15	heparin binding	GO:008201	9.4	APOE, APOB, LPL, LPA, SELP
16	GTPase activity	GO:003924	9.2	RHOG, RHOB, RHOA, ARF1, RAC1
17	enzyme binding	GO:019899	9.0	ABCD1, PLCB1, PPARG, APOB, APOA1, RAC1
18	ATPase activity	GO:016887	8.6	ABCG5, ABCG4, ABCD1, ABCA7, ABCA13, ABCA12
19	protein homodimerization activity	GO:042803	8.4	ABCG4, ABCG1, ABCD1, PLCB1, TERT, APOE
20	protein binding	GO:005515	5.6	PPARG, PPARA, PLCG1, NIPSNAP3A, RHOA, RHOB