Familial Hypercholesterolemia malady

Wikipedia: Familial hypercholesterolemia (abbreviated FH, also spelled familial hypercholesterolaemia) is a genetic...⁴⁴ more...

MalaCards: Familial Hypercholesterolemia, also known as familial hypercholesterolemia (disorder), is related to atherosclerosis and defective apolipoprotein b-100. An important gene associated with Familial Hypercholesterolemia is LDLR (low density lipoprotein receptor), and among its related pathways are ACE Inhibitor Pathway, Pharmacodynamics and LDL-mediated lipid transport. The drugs niacin and nicotinic acid and the compounds ascorbic acid and intralipid have been mentioned in the context of this disorder. Affiliated tissues include whole blood, heart and liver, and related mouse phenotypes are hematopoietic system and endocrine/exocrine gland.

OMIM: 143890

Aliases & Descriptions:

familial hypercholesterolemia 6 familial hypercholesterolemia (disorder) 6 16 hypercholesterolemia, familial 33 43 hyperlipoproteinemia type iia 16 43 fredrickson type iia hyperlipoproteinemia (disorder) 6 fredrickson type iia hyperlipoproteinemia 6 hyperbetalipoproteinemia (disorder) 6

familial hyperbetalipoproteinaemia 6 fredrickson type iia lipidaemia 6 hypercholesterolemia familial 32 familial hypercholesteremia 6 type ii hyperlipidemia 6 hypercholesterolemia 43 hyperlipidemia 43

Disease types for familial hypercholesterolemia family:

familial hypercholesterolemia type b	hypercholesterolemia, familial, 3

Diseases related to familial hypercholesterolemia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 1006)

id	Related Disease	Score	Top Affiliating Genes
1	atherosclerosis	34.5	SELE, LCAT, CETP, ESR1
2	defective apolipoprotein b-100	33.2	LDLR, LCAT, APOB, APOE, HMGCR
3	hypertension	31.9	CYP11B2, NOS3, ACE, AGT, AGTR1, ADRB2
4	cetp deficiency	31.5	LPL, LIPC, SCARB1, LDLR, LCAT, CETP
5	familial combined hyperlipidemia	31.1	APOA1, APOB, APOE, HMGCR
6	familial hypertriglyceridemia	30.9	LPL, APOA1, APOA2, APOA5, APOB, APOC3
7	familial hyperlipidemia	30.8	COG2, PCSK9, LPA, LPL, LIPC, LDLR
8	myocardial infarction	30.6	ESR1, ACE, THBD
9	hyperlipidemia type 3	30.2	COG2, LPA, LPL, LIPC, LDLR, CETP
10	hypothyroidism	29.2	LPA, CETP, APOB, PON1, ADIPOQ
11	thrombosis	29.0	MTHFR, FGB, F2
12	protein s deficiency	28.9	LRP1, SERPINE1, LDLR, MTHFR, MTTP, CETP
13	focal segmental glomerulosclerosis	28.9	ALB, ACE, AGTR1, PON1
14	homocystinuria	28.8	MTHFR, ALB, CBS, EGF, THBD
15	hepatitis	28.7	XDH, GPT, F2, ALB, TGFB1, PON1
16	carotid artery thrombosis	28.7	COG2, SERPINE1, NOS3
17	sitosterolemia	28.2	MTTP, APOB, HMGCR, CYP7A1, ABCG5, ABCG8
18	arcus senilis	28.2	LCAT, APOA1, APOB
19	cerebrotendinous xanthomatosis	28.2	APOA1, APOB, HMGCR, CYP7A1
20	glucose intolerance	28.0	MTTP, APOA4, APOB, CYP7A1
21	combined hyperlipemia	27.7	LPL, LIPC, INS, APOA1, APOB
22	hyperalphalipoproteinemia	27.7	LPL, LIPC, SCARB1, LDLR, LCAT, CETP
23	hypoalphalipoproteinemia	27.6	LPA, LPL, LIPC, LDLR, LCAT, CETP
24	xanthomatosis	27.4	LPA, LPL, LDLR, LDLRAP1, INS, APOA1
25	lipoprotein lipase deficiency	27.3	LPA, LPL, LCAT, CETP, INS, APOA1
26	primary biliary cirrhosis	27.0	CETP, CD40LG, GPT, F2, ALB
27	familial partial lipodystrophy	26.7	INS, APOE, TNF, ADIPOQ
28	hyperlipoproteinemia type iii	26.4	COG2, SELE, SERPINE1, LPA, LPL, VCAM1
29	beta thalassemia	26.2	MTHFR, INS, GPT, IGF1, F2, ALB
30	acute lymphocytic leukemia	25.4	LPL, MTHFR, MPO, CDKN2B, CDKN2A, TNF
31	ischemic heart disease	25.4	COG2, SERPINE1, LPA, LPL, LIPC, LDLR
32	type 1 diabetes mellitus	25.2	LPA, LIPC, LCAT, CETP, INS, IL1B
33	hypercalcemia	25.1	IL1B, IL6, IGF1, ALB, TNF, CRP
34	retinol binding protein	24.9	LPA, LIPC, XDH, INS, APOA1, FABP2
35	lipodystrophy	24.8	LRP1, SERPINE1, LPA, LPL, LIPC, LDLR
36	hypertriglyceridemia	24.5	LRP1, COG2, SELE, SERPINE1, LPA, LPL
37	thalassemia	23.9	SELE, VCAM1, MTHFR, INS, IL1B, IL6
38	hypercholesterolemia	23.7	LRP1, COG2, PCSK9, SELE, SERPINE1, LPA
39	cholestasis	23.6	LPL, LIPC, LCAT, CETP, MPO, CD14
40	arteriosclerosis	23.3	COG2, SELE, SERPINE1, LPA, LPL, VCAM1
41	vascular disease	22.6	LRP1, SELE, SERPINE1, LPA, LPL, VCAM1
42	liver cancer	22.6	XDH, CDKN2A, INS, IL6, APOA1, GPT
43	hyperlipidemia	21.7	LRP1, COG2, PCSK9, SERPINE1, LPA, LPL
44	anorexia nervosa	21.2	COG2, SERPINE1, LPA, LPL, CETP, INS
45	proteinuria	21.1	COG2, SERPINE1, LPA, VCAM1, LCAT, CETP
46	hyperhomocysteinemia	20.1	SELE, SERPINE1, LPA, VCAM1, LCAT, MTHFR
47	cerebrovascular disease	19.9	COG2, SELE, SERPINE1, LPA, LPL, VCAM1
48	cholesterol	19.2	LRP1, COG2, PCSK9, SELE, SERPINE1, LPA
49	schizophrenia	18.8	SELE, LPL, LDLR, MTHFR, XDH, CD14
50	multiple myeloma	18.6	LRP1, VCAM1, MTHFR, MPO, CDKN2B, CD14

Clinical features from OMIM: 143890

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 atorvastatin, atorvastatin calcium, cerivastatin, cerivastatin sodium, cholestyramine, clofibrate, coenzyme q10, colesevelam, colesevelam hydrochloride, colestipol, colestipol hydrochloride, dextrothyroxine, dextrothyroxine sodium, ezetimibe, fenofibrate, fish oil, fluvastatin, fluvastatin sodium, gemfibrozil, linolenic acid, lovastatin, niacin, niacin (as niacinamide), nicotinic acid, pravastatin, pravastatin sodium, probucol, psyllium, psyllium hydrocolloid, psyllium hydrophilic mucilloid, psyllium mucilloid, psyllium seed coatings,blond, simvastatin

Cell-based therapeutics:

Hepatocytes, PMIDs: 15239608, 9580649, 22167636, 12777539

Genetic tests related to familial hypercholesterolemia:

id	Genetic test	Affiliating Genes
1	Familial Hypercholesterolemia clinical/research	LDLR

MalaCards organs/tissues related to familial hypercholesterolemia:

²²

id	Organ / Tissue -> Anatomical Compartment -> Cell	Relevance
1	Liver -> Liver Lobule -> Hepatocytes	Potential therapeutic candidate, affected by disease

MGI Mouse Phenotypes related to familial hypercholesterolemia:

²⁵ (show all 26)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system phenotype	MP:0005397	10.8	CDKN2B
2	endocrine/exocrine gland phenotype	MP:0005379	10.2	CYP11B2, GHR, CD40LG, CDKN2B, XDH, LDLR
3	respiratory system phenotype	MP:0005388	10.1	STAB1, ABCA1, CBS, APOE, ITGB3, CD14
4	other phenotype	MP:0005395	9.5	HBB, ABCB1, ABCA1, NOS3, APOE, APOA4
5	embryogenesis phenotype	MP:0005380	9.1	EGFR, CBS, F2, SCARB1
6	integument phenotype	MP:0010771	8.8	SOAT1, HBB, EGFR, EGF, NR3C1, CYP7A1
7	liver/biliary system phenotype	MP:0005370	8.6	APOA1, IL6, INS, MTTP, LCAT, LPL
8	no phenotypic analysis	MP:0003012	8.5	ADRB2, EGFR, ESR1, F7, APOC3, INS
9	renal/urinary system phenotype	MP:0005367	8.3	NPPA, STAB1, AGTR1, AGT, HBB, ABCA1
10	limbs/digits/tail phenotype	MP:0005371	8.3	GHR, ESR1, CBS, APOE, IL10, FLNB
11	reproductive system phenotype	MP:0005389	8.1	MMP9, CDKN2B, SCARB1, LIPC, IL10, IL1RN
12	nervous system phenotype	MP:0003631	7.9	EGFR, HBB, AGT, THBD, TGFB1, SOAT1
13	immune system phenotype	MP:0005387	7.6	CDKN2B, XDH, LDLR, SCARB1, LRP1, IL6
14	behavior/neurological phenotype	MP:0005386	7.4	CYP7A1, CYP11B2, NR3C1, NOS3, ABCB1, ABCG5
15	skeleton phenotype	MP:0005390	7.3	IGF1, ALOX5AP, ESR1, NR3C1, EGFR, HBB
16	vision/eye phenotype	MP:0005391	7.1	CBS, TNF, CYP7A1, NOS3, EGF, EGFR
17	digestive/alimentary phenotype	MP:0005381	6.9	NOS3, EDN1, EGF, EGFR, ABCA1, ABCG5
18	growth/size phenotype	MP:0005378	6.9	NR3C1, GHR, CBS, FABP2, APOE, APOC3
19	adipose tissue phenotype	MP:0005375	6.4	ADIPOQ, LPL, SERPINE1, LRP1, LDLR, XDH
20	normal phenotype	MP:0002873	6.4	F2, ALB, HMGCR, NR3C1, EGF, EGFR
21	mortality/aging	MP:0010768	5.6	LDLR, SCARB1, SCNN1A, VCAM1, LPL, SERPINE1
22	muscle phenotype	MP:0005369	5.6	ABCA1, EGFR, EDN1, NOS3, CYP11B2, ABCG5
23	tumorigenesis	MP:0002006	5.6	TNF, EGFR, ACE, TIMP1, TGFB1, SOAT1
24	cellular phenotype	MP:0005384	3.5	ABCA1, EGFR, NOS3, NR3C1, CYP11B2, TNF
25	homeostasis/metabolism phenotype	MP:0005376	2.2	THBD, AGT, HBB, ABCG8, ABCG5, ABCB1
26	cardiovascular system phenotype	MP:0005385	1.8	EPHX2, ADIPOQ, ADRB2, NPPA, PON1, PON2

Articles related to familial hypercholesterolemia:

(show top 50)    (show all 387)

id	Title	Authors	Year	Affiliating Genes
1	Children with familial hypercholesterolemia are chara cterized by an inflammatory imbalance between the tumor necrosis factor I+ syste m and interleukin-10. (21040915)	Narverud I.... Holven K.B.	2011	TNF, IL10
2	Polymorphism at the TRIB1 gene modulates plasma lipid levels: Insight from the spanish familial hypercholesterolemia cohort study. (20692138)	Garcia-Rios A.... Ordovas J.M.	2010	TRIB1
3	An 11-year-old boy with familial hypercholesterolemia showing multiple xanthomas and advanced atherosclerosis, who responded to lipi d-lowering therapy using statin. (20962452)	Ohshiro T.... Ohta T.	2010	LDLR
4	Overexpression of the CXCL3 gene in response to oxidi zed low-density lipoprotein is associated with the presence of tendon xanthomas in familial hypercholesterolemia. (19448742)	MartA-n-Fuentes P.... Cenarro A.	2009	CXCL3
5	Different functions of monocyte subsets in familial hypercholesterolemia: potential function of CD14+ CD16+ monocytes in detoxification of oxidized LDL. (19001052)	Mosig S.... Funke H.	2009	STAB1
6	Differences in characteristics and risk of cardiovasc ular disease in familial hypercholesterolemia patients with and without tendon xanthomas: a systematic review and meta-analysis. (19439299)	Oosterveer D.M.... Sijbrands E.J.	2009	LDLR
7	Myeloperoxidase levels are not associated with carotid atherosclerosis progression in patients with familial hypercholesterolemia. (17875305)	Meuwese M.C.... Stroes E.S.	2008	MPO
8	Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia. (17435765)	Cunningham D.... Qiu X.	2007	LDLR, PCSK9
9	Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family. (17935672)	Xie L.... Yang Y.F.	2007	LDLR, COG2
10	Paraoxonase genotype and carotid intima-media thickness in children with familial hypercholesterolemia. (16926679)	Roest M.... Voorbij H.A.	2006	PON2, PON1
11	Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia. (15879303)	Jansen A.C.... Kastelein J.J.	2005	F2
12	Comparison of ezetimibe plus simvastatin versus simvastatin monotherapy on atherosclerosis progression in familial hypercholesterolemia. Design and rationale of the Ezetimibe and Simvastatin in Hypercholesterolemia Enhances Atherosclerosis Regression (ENHANCE) trial. (15846260)	Kastelein J.J.... Veltri E.	2005	HMGCR
13	Indications that paraoxonase-1 contributes to plasma high density lipoprotein levels in familial hypercholesterolemia. (15576850)	van Himbergen T.M.... van Tits L.J.	2005	PON1
14	TaqIB polymorphism in CETP gene: the influence on incidence of cardiovascular disease in statin-treated patients with familial hypercholesterolemia. (15856070)	Mohrschladt M.F.... Smelt A.H.	2005	CETP
15	Familial hypercholesterolemia: genetic predisposition to atherosclerosis. (15384479)	Engler M.B.	2004	LDLR
16	Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia. (15359125)	Kim J.H.... Lee S.T.	2004	LDLR
17	Analysis of low-density lipoprotein receptor gene mutations in a Chinese patient with clinically homozygous familial hypercholesterolemia. (14570618)	Cao S.... Chen B.	2003	LDLR
18	Magnitude of HDL cholesterol variation after high-dose atorvastatin is genetically determined at the LDL receptor locus in patients with homozygous familial hypercholesterolemia. (14512370)	Sposito A.C.... Turpin G.	2003	LDLR
19	Influence of plasma lipids, APOE genotype and type of LDL receptor gene mutations on myocardial infarction in subjects with familial hypercholesterolemia (12042130)	Real J.T.... Carmena R.	2002	LDLR, APOE
20	MEDPED and the Spanish Familial Hypercholesterolemia Foundation. (11923123)	Mata P.... Pocovi M.	2002	LDLR
21	Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. (12436241)	Amsellem S.... Benlian P.	2002	LDLR
22	A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease. (12442279)	Castillo S.... Pocovi M.	2002	LDLR
23	Effectiveness of screening for known mutations in Sicilian patients with 'probable' familial hypercholesterolemia. (12055704)	Cefalu A.B.... Averna M.R.	2001	LDLR
24	Effect of apolipoprotein E genotype on lipid levels and response to diet in familial hypercholesterolemia. (10812582)	Carmena-RamA^n R.... Carmena R.	2000	APOE
25	Polymorphisms of the low-density lipoprotein receptor gene in Brazilian individuals with heterozygous familial hypercholesterolemia. (11050659)	Salazar L.A.... Hirata R.D.	2000	LDLR
26	Flow cytometric assessment of effects of fluvastatin on low-density lipoprotein receptor activity in stimulated T-lymphocytes from patients with heterozygous familial hypercholesterolemia. (10761170)	Raungaard B.... Faergeman O.	2000	LDLR
27	A functional polymorphism in the promoter region of the microsomal triglyceride transfer protein (MTP -493G/T) influences lipoprotein phenotype in familial hypercholesterolemia. (10894817)	Bjorn Lundahl .... Karpe F.	2000	MTTP
28	Flow cytometric assessment of LDL receptor activity in peripheral blood mononuclear cells compared to gene mutation detection in diagnosis of heterozygous familial hypercholesterolemia. (10331627)	Raungaard B.... Faergeman O.	1999	LDLR
29	Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia. (9974426)	Bertolini S.... Calandra S.	1999	LDLR
30	Two novel mutations consisting in minor gene rearrangements in the human low density lipoprotein receptor gene in Italian patients affected by familial hypercholesterolemia. (10660340)	Motti C.... Cortese C.	1998	LDLR
31	Evaluation of a clinically applicable mutation screening technique for genetic diagnosis of familial hypercholesterolemia and familial defective apolipoprotein B. (9712531)	Nissen H.... rder M.	1998	APOB
32	LPS-induced cytokine production and expression of beta2-integrins and CD14 by peripheral blood mononuclear cells of patients with homozygous familial hypercholesterolemia. (9863542)	Rovers C.... Stalenhoef A.F.	1998	CD14
33	Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia. (9452095)	Thiart R.... Kotze M.J.	1998	LDLR
34	Familial hypercholesterolemia with cholesteryl ester transfer protein deficiency. (9678686)	Kamigaki M.... Emi M.	1998	CETP
35	Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay. (9727746)	Nissen H.... Clavey V.	1998	LDLR, APOB
36	Pregnancy in patient with familial hypercholesterolemia and atherosclerosis disease (9435357)	Avila W.S.... Grinberg M.	1997	LDLR
37	The familial hypercholesterolemia regression study: a randomized comparison of therapeutic reduction of both low-density lipoprotein and lipoprotein(a) versus low-density lipoprotein alone. (10225769)	Kitano Y.... Thompson G.R.	1997	COG2
38	I/D polymorphism at the locus for ACE and apo A-I gene promoter polymorphism as risk factors for coronary artery disease in patients with familial hypercholesterolemia. (8739332)	Petrovic D.... Peterlin B.	1996	ACE, APOA1
39	Characterization of mutations in the low density lipoprotein (LDL)- receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom. (9026534)	Webb J.C.... Soutar A.K.	1996	LDLR
40	Clinically applicable mutation screening in familial hypercholesterolemia. (8844215)	Nissen H.... rder M.	1996	APOB
41	Response to HMG CoA reductase inhibitors in heterozygous familial hypercholesterolemia due to the 10-kb deletion ('French Canadian mutation') of the LDL receptor gene. (8049186)	Karayan L.... Genest J.	1994	HMGCR
42	ApoB metabolism in familial hypercholesterolemia. Inconsistencies with the LDL receptor paradigm. (8148348)	Fisher W.R.... Stacpoole P.W.	1994	LDLR
43	Efficacy and safety of a combination fluvastatin-bezafibrate treatment for familial hypercholesterolemia: comparative analysis with a fluvastatin-cholestyramine combination. (8192170)	Leitersdorf E.... Stein Y.	1994	COG2
44	The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland. (1634609)	Koivisto U.M.... Kontula K.	1992	LDLR
45	Effects of pravastatin and cholestyramine on products of the mevalonate pathway in familial hypercholesterolemia. (1940625)	Elmberger P.G.... Dallner G.	1991	HMGCR
46	Apolipoprotein E-rich HDL in patients with homozygous familial hypercholesterolemia. (2126436)	Keidar S.... Schonfeld G.	1990	APOE, CETP
47	The influence of apolipoprotein E phenotype on the response to lovastatin therapy in patients with heterozygous familial hypercholesterolemia. (2299987)	O'Malley J.P.... Illingworth D.R.	1990	APOE
48	Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions. (3343347)	Hobbs H.H.... Russell D.W.	1988	LDLR
49	Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia. (3012527)	Lehrman M.A.... Brown M.S.	1986	LDLR
50	The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. (3955657)	Davis C.G.... Goldstein J.L.	1986	LDLR

Genes related to familial hypercholesterolemia according to GeneCards:

(show top 50)    (show all 92)

id	Symbol	Description	Score	GeneCards Section Context
1	LDLR	low density lipoprotein receptor	11.0	Summaries, Publications
2	PCSK9	proprotein convertase subtilisin/kexin type 9	11.0	Publications, UniProt Related, Summaries
3	EPHX2	epoxide hydrolase 2, cytoplasmic	11.0	Publications, Summaries
4	ABCA1	ATP-binding cassette, sub-family A (ABC1), member 1	11.0	Publications
5	OR13G1	olfactory receptor, family 13, subfamily G, member 1	11.0	Publications
6	APOB	apolipoprotein B (including Ag(x) antigen)	11.0	Publications
7	COG2	component of oligomeric golgi complex 2	11.0	Publications
8	PON2	paraoxonase 2	11.0	Publications
9	CXCL3	chemokine (C-X-C motif) ligand 3	11.0	Publications
10	CETP	cholesteryl ester transfer protein, plasma	11.0	Publications
11	CD93	CD93 molecule	11.0	Publications
12	TRIB1	tribbles homolog 1 (Drosophila)	11.0	Publications
13	LPXN	leupaxin	11.0	Publications
14	LDLRAP1	low density lipoprotein receptor adaptor protein 1	11.0	Publications
15	HNRNPUL1	heterogeneous nuclear ribonucleoprotein U-like 1	11.0	Publications
16	HMGCR	3-hydroxy-3-methylglutaryl-CoA reductase	11.0	Publications
17	APOA4	apolipoprotein A-IV	11.0	Publications
18	ALOX5AP	arachidonate 5-lipoxygenase-activating protein	11.0	Publications
19	ABCG5	ATP-binding cassette, sub-family G (WHITE), member 5	11.0	Publications
20	ABCG8	ATP-binding cassette, sub-family G (WHITE), member 8	11.0	Publications
21	MTTP	microsomal triglyceride transfer protein	11.0	Publications
22	CYP7A1	cytochrome P450, family 7, subfamily A, polypeptide 1	11.0	Publications
23	SCNN1A	sodium channel, non-voltage-gated 1 alpha subunit	11.0	Publications
24	F7	coagulation factor VII (serum prothrombin conversion accelerator)	11.0	Publications
25	APOA1	apolipoprotein A-I	11.0	Publications
26	SOAT1	sterol O-acyltransferase 1	11.0	Publications
27	FABP2	fatty acid binding protein 2, intestinal	11.0	Publications
28	LIPC	lipase, hepatic	11.0	Publications
29	LCAT	lecithin-cholesterol acyltransferase	11.0	Publications
30	LPL	lipoprotein lipase	11.0	Publications
31	SRPK1	SRSF protein kinase 1	11.0	Publications
32	PON1	paraoxonase 1	11.0	Publications
33	FGB	fibrinogen beta chain	11.0	Publications
34	APOA2	apolipoprotein A-II	11.0	Publications
35	APOE	apolipoprotein E	11.0	Publications
36	APOC3	apolipoprotein C-III	11.0	Publications
37	APOA5	apolipoprotein A-V	11.0	Publications
38	STAB1	stabilin 1	11.0	Publications
39	SRSF6	serine/arginine-rich splicing factor 6	11.0	Publications
40	LRP1	low density lipoprotein receptor-related protein 1	11.0	Publications
41	AGT	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	11.0	Publications
42	ADD1	adducin 1 (alpha)	11.0	Publications
43	CBS	cystathionine-beta-synthase	11.0	Publications
44	LPA	lipoprotein, Lp(a)	11.0	Publications
45	FLNB	filamin B, beta	11.0	Publications
46	CYP11B2	cytochrome P450, family 11, subfamily B, polypeptide 2	11.0	Publications
47	SCARB1	scavenger receptor class B, member 1	11.0	Publications
48	CDKN2B	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	11.0	Publications
49	NPPA	natriuretic peptide A	11.0	Publications
50	SELE	selectin E	11.0	Publications

Pathways related to familial hypercholesterolemia according to GeneDecks:

(show top 50)    (show all 81)

id	Pathway	Score	Top Affiliating Genes
1	ACE Inhibitor Pathway, Pharmacodynamics34	10.8	AGTR1
2	LDL-mediated lipid transport38	10.7	CETP, LDLR, LPA
3	Fat digestion and absorption20	10.6	APOB, APOA1, MTTP, SCARB1, FABP2, ABCA1
4	Bile secretion20	10.4	ABCB1, LDLR, ABCG8, ABCG5, CYP7A1, HMGCR
5	PPAR signaling pathway20	10.2	APOA5, FABP2, APOA2, APOA1, LPL, CYP7A1
6	Statin Pathway, Pharmacodynamics34	10.0	APOB, LIPC, SCARB1, LDLR, LCAT, ABCG5
7	Metabolism of lipids and lipoproteins38	10.0	ALB, SCARB1, LCAT, MTTP, APOB, LPL
8	Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics34	9.9	KNG1, TGFB1, AGTR1, AGT, ACE, NOS3
9	Immune response MIF-mediated glucocorticoid regulation10	9.9	IL6, NR3C1, IL8, TNF, VCAM1
10	Akt Signaling36	9.9	TNF, IL6, IL10, CXCL3
11	Immune response_MIF-mediated glucocorticoid regulation41	9.8	IL6, NR3C1, IL8, VCAM1, TNF
12	LDL Oxidation in Atherogenesis36	9.8	VCAM1, MPO, TNF, IL1B
13	Extrinsic Prothrombin Activation Pathway36	9.7	F7, F2, THBD, FGB
14	Selected targets of HNF110	9.7	ALB, APOH, APOB, APOA2, APOA1, CRP
15	Blood Coagulation Signaling Pathways37	9.5	F2, SERPINE1, KNG1, THBD, F7, FGB
16	Selected targets of GCR-alpha10	9.4	SCNN1A, NR3C1, GHR, IL6, IL1B, INS
17	Amoebiasis20	9.4	IL6, IL8, CD14, TGFB1, IL1B
18	Complement and coagulation cascades20	9.3	THBD, KNG1, F7, FGB, CFH, SERPINE1
19	Molecular Mechanisms of Cancer36	9.3	CDKN2A, CDKN2B, CXCL3, EGFR, TIMP1, TGFB1
20	Bladder cancer20	9.3	MMP9, CDKN2A, IL8, EGF, EGFR
21	Transcription_Role of VDR in regulation of genes involved in osteoporosis41	9.2	TNF, IL1B, IL6, APOE, IGF1, NR3C1
22	Transcription Role of VDR in regulation of genes involved in osteoporosis10	9.2	APOE, IL1B, NR3C1, TNF, IGF1, IL6
23	IL-10 Pathway36	9.2	IL6, IL10, CD14, TNF, IL1B
24	Immune response IL-1 signaling pathway10	9.2	IL8, SERPINE1, IL1B, IL6, TNF, EDN1
25	Immune response_IL-1 signaling pathway41	9.2	TNF, IL8, IL6, IL1B, SERPINE1, EDN1
26	Endothelin-1 Signaling Pathway36	9.1	EDN1, EGFR, IL1B, IL6, IL10, CXCL3
27	Immune response_MIF in innate immunity response41	9.1	IL6, CD14, IL1B, IL8, TNF
28	African trypanosomiasis20	9.1	HBB, IL10, VCAM1, SELE, IL1B, IL6
29	Cell adhesion ECM remodeling10	9.1	MMP9, SERPINE1, IL8, EGFR, TIMP1, IGF1
30	Cell adhesion_ECM remodeling41	9.1	TIMP1, EGFR, IGF1, IL8, MMP9, SERPINE1
31	Cytokine Network36	9.0	TNF, IL8, IL6, IL1B, IL10
32	Immune response MIF in innate immunity response10	9.0	CD14, IL8, IL6, TNF, IL1B
33	MIF Mediated Glucocorticoid Regulation36	8.9	CXCL3, NR3C1, CD14, TNF, IL6, IL1B
34	Renin-Angiotensin Pathway36	8.9	IL6, TIMP1, AGTR1, ACE, EGFR, TGFB1
35	Hypertrophic cardiomyopathy (HCM)20	8.9	TGFB1, ITGB3, IGF1, TNF, ACE, IL6
36	Pertussis20	8.8	IL8, IL1B, CD14, TNF, IL10, IL6
37	MIF Regulation of Innate Immune Cells36	8.7	TNF, IL10, IL1B, IL6, IL8, CXCL3
38	NF-KappaB (p50-p65) Pathway36	8.5	EGFR, TGFB1, IL1B, IGF1, TNF, EGF
39	Chagas disease (American trypanosomiasis)20	8.4	TGFB1, SERPINE1, ACE, IL8, IL6, TNF
40	Rho Family GTPases36	8.4	IGF1, ITGB3, IL10, IL1B, IL8, TGFB1
41	Malaria20	8.4	LRP1, TNF, IL8, IL6, TGFB1, IL1B
42	Cytokine-cytokine receptor interaction20	8.1	IL8, GHR, EGFR, EGF, TNF, TGFB1
43	ERK Signaling36	8.1	TGFB1, IL10, IL1B, IL6, ESR1, CXCL3
44	Pancreatic Adenocarcinoma36	8.0	CDKN2B, MMP9, EGFR, IL6, IGF1, CDKN2A
45	TGF-Beta Pathway36	7.9	EGFR, IL10, IL6, IL8, IL1B, IGF1
46	PAK Pathway36	7.8	IL8, IGF1, TNF, IL1B, EGFR, TGFB1
47	Antioxidant Action of Vitamin-C36	7.7	IL6, TNF, EGF, EGFR, TIMP1, TGFB1
48	Tec Kinases Signaling36	7.6	TNF, TGFB1, TIMP1, EGFR, EGF, IL8
49	MAPK Family Pathway36	7.6	TGFB1, IL1B, EGFR, EGF, TNF, IL10
50	JAK-STAT Pathway36	6.9	IGF1, IL8, IL6, IL10, TGFB1, F2

Compounds related to familial hypercholesterolemia according to GeneDecks:

(show top 50)    (show all 517)

id	Compound	Score	Top Affiliating Genes
1	ascorbic acid32 18	11.6	LDLR, LCAT, CD40LG, EPHX2
2	intralipid32	10.1	LPL, LIPC, LCAT, CETP, APOA1, APOA2
3	cholesterol ester32	10.0	LRP1, COG2, LPA, LIPC, SCARB1, LDLR
4	gemfibrozil32 9 9	11.8	COG2, LPA, LPL, LIPC, LDLR, CETP
5	probucol32 9 9	11.7	SELE, LPL, VCAM1, LIPC, SCARB1, LDLR
6	sterol32	9.7	LRP1, COG2, PCSK9, LIPC, SCARB1, LDLR
7	h2o232	9.6	LPA, LDLR, XDH, MPO, IL1RN, APOA1
8	endotoxin32	9.6	CD14, APOH, GHR, CRP, THBD, ADIPOQ
9	vitamin-e32	9.5	COG2, LPA, VCAM1, SCARB1, MTTP, IL1RN
10	hyaluronic acid32 18	10.3	CFH, GPT, F2, THBD, STAB1
11	fatty acid32	9.3	LRP1, COG2, SCARB1, LCAT, MTTP, CDKN2A
12	dextran sulfate32	9.1	SELE, LPL, LDLR, CETP, MPO, CD40LG
13	pge232	9.1	SELE, VCAM1, LDLR, CD14, IL1RN, APOA1
14	vitamin a32 9 18 9	12.0	LPL, LIPC, SCARB1, LDLR, LCAT, CETP
15	vitamin b1232	9.0	LPA, MTHFR, MPO, CD40LG, APOA1, APOB
16	bezafibrate32 9 9	10.9	COG2, SERPINE1, LPA, LPL, LIPC, LDLR
17	phosphatidylcholine32	8.9	SELE, LPA, LPL, VCAM1, LIPC, SCARB1
18	betacarotene32	8.7	LPL, SCARB1, MTHFR, CETP, IL10, APOB
19	p00232	8.5	LPA, LIPC, MTHFR, MTTP, CD14, MMP9
20	testosterone32 9 18 9	11.5	COG2, SELE, LPL, VCAM1, LIPC, SCARB1
21	candesartan32 9 9	10.5	SERPINE1, ALB, NOS3, ABCB1, ACE, AGT
22	cysteine32	8.4	LRP1, LPA, LDLR, LCAT, MTHFR, MTTP
23	azathioprine32 34 9 9	11.4	MTHFR, XDH, CDKN2B, CDKN2A, IL10, APOH
24	tamoxifen32 34 9 9	11.4	SELE, LPL, VCAM1, LDLR, CETP, APOA1
25	alpha tocopherol32	8.2	LPL, VCAM1, SCARB1, LDLR, LCAT, MTHFR
26	uric acid32 18	9.1	SERPINE1, LPA, MTHFR, XDH, INS, APOA1
27	chloramphenicol32 9 9	10.1	SELE, SERPINE1, LPL, LDLR, CETP, MPO
28	folate32	8.1	SELE, LPA, VCAM1, LDLR, MTHFR, CDKN2A
29	sb 20358032 42	9.0	SELE, VCAM1, MMP9, IL6, IGF1, TNF
30	ly29400232	7.7	SELE, MMP9, IL10, IL1B, IL6, IL8
31	polymyxin b32	7.6	SELE, SERPINE1, VCAM1, LDLR, CD14, IL10
32	fenofibrate32 9 9	9.6	COG2, SELE, SERPINE1, LPA, LPL, VCAM1
33	atorvastatin32 34 9 18 9	11.4	COG2, SELE, LPA, LPL, VCAM1, LIPC
34	rosiglitazone32 9 18 9	10.3	LRP1, COG2, SELE, SERPINE1, LPA, LPL
35	fibrinogen32	7.0	COG2, SELE, SERPINE1, LPA, VCAM1, LIPC
36	pd 98,05932	7.0	SERPINE1, VCAM1, CDKN2B, CD14, MMP9, IL1B
37	prostacyclin32	6.9	SELE, SERPINE1, VCAM1, LDLR, IL10, IL1B
38	hydrocortisone32 9 9	8.8	CD14, INS, IL10, IL1B, IL1RN, IL6
39	alanine32	6.7	COG2, SELE, VCAM1, SCARB1, LDLR, LCAT
40	8-isoprostane32	6.5	SELE, SERPINE1, VCAM1, XDH, MPO, MMP9
41	vegf32	6.2	LRP1, SELE, SERPINE1, LPA, VCAM1, MPO
42	vitamin d32	6.0	LRP1, SERPINE1, LPL, LDLR, MTHFR, CD14
43	simvastatin32 34 42 9 18 9	11.0	COG2, SELE, SERPINE1, LPA, LPL, VCAM1
44	genistein32 9 18 9	8.9	SELE, SERPINE1, LPL, VCAM1, LDLR, CDKN2A
45	lipid32	5.5	LRP1, COG2, PCSK9, SELE, SERPINE1, LPA
46	lactate32	5.4	SELE, LPL, VCAM1, XDH, MPO, CD14
47	estrogen32	5.2	COG2, SERPINE1, LPA, LPL, LIPC, SCARB1
48	actinomycin d32	5.2	SELE, SERPINE1, LPA, SCNN1A, LDLR, CDKN2A
49	retinoic acid32 42 18	7.1	LRP1, SERPINE1, VCAM1, LDLR, MTHFR, CFH
50	cholesterol32 9 18 9	8.0	LRP1, COG2, PCSK9, SELE, SERPINE1, LPA

Cellular components related to familial hypercholesterolemia according to GeneDecks:

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	spherical high-density lipoprotein particle	GO:034366	10.3	PON1, APOC3, APOA2, APOA1
2	low-density lipoprotein particle	GO:034362	10.2	LDLR, APOA5, APOB, APOE
3	chylomicron	GO:042627	10.2	APOH, APOE, APOC3, APOB, APOA5, APOA4
4	very-low-density lipoprotein particle	GO:034361	10.2	APOH, APOE, APOC3, APOB, APOA5, APOA4
5	high-density lipoprotein particle	GO:034364	10.2	LIPC, LCAT, CETP, APOA1, APOA2, APOA4
6	intermediate-density lipoprotein particle	GO:034363	10.1	APOE, APOC3, APOB
7	external side of plasma membrane	GO:009897	9.7	VCAM1, SCNN1A, LDLR, CD40LG, FGB, TNF
8	cell surface	GO:009986	9.1	APOH, GHR, TNF, ABCB1, THBD, TGFB1
9	endoplasmic reticulum lumen	GO:005788	9.1	F2, F7, APOB, APOA4, APOA2, APOA1
10	platelet alpha granule lumen	GO:031093	8.7	KNG1, TGFB1, TIMP1, EGF, ALB, IGF1
11	plasma membrane	GO:005886	5.5	ABCG5, ABCB1, ABCA1, EGFR, EGF, NOS3
12	extracellular region	GO:005576	4.1	LPL, APOA2, APOA4, APOA5, APOB, APOC3
13	extracellular space	GO:005615	2.5	PCSK9, INS, FGB, IL10, IL1B, IL1RN

Biological processes related to familial hypercholesterolemia according to GeneDecks:

(show top 50)    (show all 100)

id	Name	GO ID	Score	Top Affiliating Genes
1	cholesterol transport	GO:030301	10.7	APOB, APOA1, CETP, LDLR, LCAT
2	very-low-density lipoprotein particle remodeling	GO:034372	10.7	LPL, CETP, LIPC, LCAT, APOA4, APOE
3	Cdc42 protein signal transduction	GO:032488	10.7	APOA1, APOE, APOC3, ABCA1
4	phospholipid efflux	GO:033700	10.6	APOE, APOA1, APOA4, APOC3, ABCA1, APOA2
5	high-density lipoprotein particle assembly	GO:034380	10.6	APOA1, APOA2, APOE, ABCA1
6	phospholipid transport	GO:015914	10.6	CETP, SCARB1, LDLR, ABCG8
7	triglyceride homeostasis	GO:070328	10.5	LIPC, APOA5, LPL, CETP, SCARB1, APOA1
8	high-density lipoprotein particle clearance	GO:034384	10.5	APOA1, SCARB1, APOA2, APOE
9	positive regulation of cholesterol esterification	GO:010873	10.5	AGTR1, APOA1, APOA2, APOE, APOA4, AGT
10	triglyceride catabolic process	GO:019433	10.5	LPL, APOC3, APOB, APOA5, LIPC
11	receptor-mediated endocytosis	GO:006898	10.5	CETP, APOB, ADRB2, LDLRAP1, LDLR, STAB1
12	high-density lipoprotein particle remodeling	GO:034375	10.5	CETP, APOA1, APOA2, APOA4, APOC3, APOE
13	reverse cholesterol transport	GO:043691	10.5	SCARB1, LCAT, CETP, APOA1, APOA2, APOA4
14	cholesterol efflux	GO:033344	10.5	SOAT1, ABCG8, ABCG5, ABCA1, APOE, APOC3
15	low-density lipoprotein particle remodeling	GO:034374	10.5	APOA2, CETP, LIPC, APOB, AGT, AGTR1
16	cholesterol metabolic process	GO:008203	10.5	APOA2, APOA1, CETP, LCAT, LDLRAP1, LDLR
17	triglyceride metabolic process	GO:006641	10.4	APOC3, APOA2, CETP, LPL, PCSK9, APOH
18	positive regulation of cholesterol efflux	GO:010875	10.3	PON1, LRP1, ADIPOQ, ABCA1, APOE
19	cholesterol homeostasis	GO:042632	10.2	APOA4, EPHX2, APOA5, APOB, APOC3, APOE
20	low-density lipoprotein particle clearance	GO:034383	10.2	SCARB1, LDLR, APOB, ADIPOQ
21	negative regulation of macrophage derived foam cell differentiation	GO:010745	10.0	CRP, ADIPOQ, ITGB3, CETP, ABCA1
22	regulation of blood vessel size	GO:050880	10.0	CBS, NPPA, HBB, NOS3
23	negative regulation of cytokine secretion involved in immune response	GO:002740	10.0	APOA1, APOA2, TNF, IL10
24	negative regulation of smooth muscle cell migration	GO:014912	10.0	ADIPOQ, LRP1, TRIB1, SERPINE1
25	negative regulation of blood coagulation	GO:030195	9.9	KNG1, THBD, EDN1, APOH, APOE, SERPINE1
26	lipoprotein metabolic process	GO:042157	9.9	PCSK9, LPA, LPL, SCARB1, LDLR, ABCA1
27	negative regulation of lipid storage	GO:010888	9.9	CRP, TNF, IL6, ITGB3
28	regulation of blood pressure	GO:008217	9.8	EPHX2, SOD1, NPPA, HBB, ACE, NOS3
29	lipid metabolic process	GO:006629	9.8	ABCG5, ABCG8, ABCA1, ALB, LPA, LPL
30	negative regulation of lipid catabolic process	GO:050995	9.7	INS, TNF, APOC3, APOA2, IL1B
31	positive regulation of cellular protein metabolic process	GO:032270	9.6	INS, ADIPOQ, TGFB1, AGT, AGTR1
32	aging	GO:007568	9.6	TGFB1, AGT, TIMP1, NOS3, NR3C1, HMGCR
33	negative regulation of platelet activation	GO:010544	9.6	NOS3, F2, THBD, APOE
34	lipopolysaccharide-mediated signaling pathway	GO:031663	9.5	SCARB1, TNF, NOS3, IL1B, TGFB1
35	positive regulation of nitric-oxide synthase activity	GO:051000	9.3	INS, SCARB1, APOE, ESR1
36	negative regulation of fibrinolysis	GO:051918	9.1	THBD, F2, APOH, SERPINE1
37	positive regulation of protein kinase B signaling cascade	GO:051897	9.0	EGFR, TGFB1, TNF, F7, INS, IGF1
38	positive regulation of mitosis	GO:045840	8.9	EGF, IL1B, TNF, EDN1, IGF1, INS
39	positive regulation of blood coagulation	GO:030194	8.9	F7, F2, SERPINE1, APOH
40	positive regulation of peptidyl-tyrosine phosphorylation	GO:050731	8.8	IL6, IGF1, ADIPOQ, ITGB3, AGT, INS
41	platelet degranulation	GO:002576	8.7	TIMP1, ALB, APOA1, IGF1, SOD1, SERPINE1
42	positive regulation of nitric oxide biosynthetic process	GO:045429	8.6	IL1B, TNF, EDN1, ESR1, EGFR, HBB
43	response to drug	GO:042493	8.6	TGFB1, EDN1, ABCG5, APOA2, IL1RN, IL10
44	response to hypoxia	GO:001666	8.5	MMP9, IL1B, TNF, VCAM1, CRP, EDN1
45	small molecule metabolic process	GO:044281	8.4	LPA, LPL, XDH, SCARB1, LDLR, LCAT
46	anti-apoptosis	GO:006916	8.4	F7, NR3C1, NOS3, SOD1, TNF, CD40LG
47	response to glucocorticoid stimulus	GO:051384	8.4	GHR, IL6, IL1RN, ADIPOQ, TNF, LCAT
48	inflammatory response	GO:006954	8.0	TNF, IL8, IL6, IL1B, SELE, CD14
49	blood coagulation	GO:007596	7.4	TIMP1, HBB, THBD, TGFB1, SOD1, KNG1
50	platelet activation	GO:030168	7.4	TIMP1, SERPINE1, CD40LG, FGB, IL6, APOA1

Molecular functions related to familial hypercholesterolemia according to GeneDecks:

(show all 26)

id	Name	GO ID	Score	Top Affiliating Genes
1	low-density lipoprotein particle receptor binding	GO:050750	10.7	APOE, APOB, APOA5, LDLRAP1, PCSK9
2	cholesterol transporter activity	GO:017127	10.6	CETP, ABCG8, ABCG5, ABCA1, APOB, APOA4
3	phosphatidylcholine-sterol O-acyltransferase activator activity	GO:060228	10.6	APOE, APOA4, APOA2, APOA1
4	lipid transporter activity	GO:005319	10.6	APOE, APOA4, APOA2, CETP, MTTP
5	phosphatidylcholine binding	GO:031210	10.6	APOA5, APOA4, APOA2, CETP
6	apolipoprotein binding	GO:034185	10.6	ABCA1, SCARB1, LIPC, LPA, PCSK9, LRP1
7	high-density lipoprotein particle receptor binding	GO:070653	10.6	APOC3, APOA2, APOA1
8	apolipoprotein A-I binding	GO:034186	10.5	ABCA1, LCAT, SCARB1
9	apolipoprotein receptor binding	GO:034190	10.5	APOA2, APOA1, PCSK9
10	low-density lipoprotein particle binding	GO:030169	10.4	PCSK9, LIPC, SCARB1, CRP, STAB1
11	cholesterol binding	GO:015485	10.4	SOAT1, ABCA1, CRP, APOC3, APOA2, APOA1
12	lipid binding	GO:008289	10.3	APOH, APOE, APOA5, APOA4, APOA2, CETP
13	heparin binding	GO:008201	10.1	KNG1, APOH, APOE, APOB, APOA5, MPO
14	high-density lipoprotein particle binding	GO:008035	10.0	SCARB1, APOA1, APOA2
15	phospholipid binding	GO:005543	10.0	PON1, ABCA1, APOH, APOE, APOC3, APOB
16	heme binding	GO:020037	10.0	NOS3, CYP11B2, CYP7A1, CBS, MPO, HBB
17	eukaryotic cell surface binding	GO:043499	9.9	ADIPOQ, TGFB1, APOH, APOA4, FGB
18	protein heterodimerization activity	GO:046982	9.8	ADD1, TGFB1, AGTR1, ABCG8, ABCG5, EGFR
19	enzyme binding	GO:019899	9.4	TGFB1, EGFR, ESR1, HNRNPUL1, CBS, ALOX5AP
20	hormone activity	GO:005179	9.0	ADIPOQ, NPPA, AGT, EDN1, IGF1, INS
21	protein homodimerization activity	GO:042803	8.9	CRP, TGFB1, SOD1, PON1, ADRB2, ADD1
22	identical protein binding	GO:042802	8.8	ADIPOQ, PON2, EGFR, TNF, ESR1, APOE
23	receptor binding	GO:005102	8.7	EPHX2, ADIPOQ, KNG1, NPPA, F2, F7
24	cytokine activity	GO:005125	8.2	ADIPOQ, EDN1, TNF, IL6, IL1B, IL10
25	growth factor activity	GO:008083	7.7	TGFB1, AGT, EGF, F2, IGF1, IL6
26	protein binding	GO:005515	2.7	NOS3, CRP, NR3C1, SRPK1, TNF, GHR