FH
MCID: FML021
MIFTS: 87

Familial Hypercholesterolemia (FH) malady

Metabolic diseases, Endocrine diseases, Genetic diseases categories

Summaries for Familial Hypercholesterolemia

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Familial hypercholesterolemia (fh) is an inherited condition that causes abnormally high levels of ldl (low density lipoprotein) cholesterol beginning at birth. when too much ldl cholesterol is present in the blood stream, it builds up in the walls of the arteries and increases the risk of heart attacks and heart disease. men with fh may have heart attacks in their 40s to 50s, and women with fh may have them in their 50s to 60s. fh is most commonly caused by mutations in the ldlr gene and is usually inherited in an autosomal dominant manner. more rarely, it may be caused by mutations in other genes and can be inherited in an autosomal recessive manner. treatment focuses on lowering ldl cholesterol levels in the blood and may include dietary modification and medication. last updated: 10/22/2013

MalaCards: Familial Hypercholesterolemia, also known as hypercholesterolemia, autosomal dominant, is related to atherosclerosis and coronary artery disease. An important gene associated with Familial Hypercholesterolemia is LDLR (low density lipoprotein receptor), and among its related pathways are Endocytic Trafficking of EGFR and LDL-mediated lipid transport. The drug ezetimibe and the compounds alpha tocopherol and psyllium have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and testes, and related mouse phenotypes are other and homeostasis/metabolism.

Wikipedia:63 Familial hypercholesterolemia (abbreviated FH, also spelled familial hypercholesterolaemia) is a genetic... more...

Description from OMIM:46 144400,143890,603813,602247

GeneReviews summary for hyperchol

Aliases & Classifications for Familial Hypercholesterolemia

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

familial hypercholesterolemia 8 19 42 30
hypercholesterolemia, autosomal dominant 19 42 44
familial hypercholesterolaemia 19 20 22
hypercholesterolemia, familial 9 46 60
fredrickson type iia hyperlipoproteinemia 8
homozygous familial hypercholesterolemia 48
familial hyperbetalipoproteinaemia 8
high serum cholesterol, familial 42
fredrickson type iia lipidaemia 8
hyperlipoproteinemia, type iia 19
hyperlipoproteinemia, type 2 a 42
hypercholesterolemia familial 44
familial hypercholesteremia 8
hyperbetalipoproteinemia 8
hyperlipidema, familial 42
type ii hyperlipidemia 8
hofh 48
fhc 42
fh 42


External Ids:

Disease Ontology8 DOID:13810
NCIt39 C34704
MeSH34 D006938
ICD10 via Orphanet26 E78.0

Related Diseases for Familial Hypercholesterolemia

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17GeneCards, 18GeneDecks
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Diseases in the Familial Hypercholesterolemia family:

Hypercholesterolemia Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Due to Ligand-Defective Apo B Hypercholesterolemia, Familial, Due to Ldlr Defect, Modifier of

Diseases related to Familial Hypercholesterolemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 208)
idRelated DiseaseScoreTop Affiliating Genes
1atherosclerosis31.2LDLR, LDLRAP1, CETP, HMGCR, ABCA1, EPHX2
2coronary artery disease30.8APOA4, APOB, PON2, ABCA1, HMGCR, CETP
3familial combined hyperlipidemia30.8APOA1, APOE, APOB, HMGCR
4familial hyperlipidemia30.8LCAT, APOA1, APOE, APOA4, APOB, ABCA1
5myocardial infarction30.5COG2, LCAT, APOA1, LDLR, CETP, HMGCR
6xanthomatosis30.4APOE, APOB, ABCA1, LDLRAP1, LDLR
7acute myocardial infarction30.3LCAT, APOA1, APOB, HMGCR
8vascular disease30.3LCAT, APOA1, APOE, APOA4, APOB, ABCA1
9coronary stenosis30.3CETP, APOB, APOA1
10familial hypertriglyceridemia30.3APOA1, APOE, APOB
11hepatitis30.2EPHX2, LDLR
12hyperlipidemia type 330.2CETP, LDLR, HMGCR, APOB, COG2, APOA1
13diabetes mellitus30.2COG2, LCAT, APOA1, APOE, APOA4, APOB
14breast cancer30.1LCAT, EPHX2, ABCA1, LDLR
15colorectal cancer30.0LDLR, EPHX2
16hypertension29.9COG2, APOA1, APOE, APOB, EPHX2
17essential hypertension29.9CETP, APOB, APOA1, LCAT
18ischemic heart disease29.9COG2, APOA1, APOB, ABCA1, HMGCR, CETP
19ischemia29.9HMGCR
20abetalipoproteinemia29.9LCAT, APOA1, APOE, APOB, PCSK9, CETP
21arteriosclerosis29.9COG2, APOA1, APOB, HMGCR, LDLR
22peripheral vascular disease29.9APOA1, APOB, HMGCR, CETP
23lung cancer29.9PCSK9
24nephrotic syndrome29.9LCAT, APOA1, APOE, APOB, HMGCR, CETP
25cerebral atherosclerosis29.9APOA1
26sitosterolemia29.9HMGCR
27hereditary leiomyomatosis and renal cell cancer10.5
28fumarate hydratase deficiency10.5
29leiomyomatosis10.4
30supravalvular aortic stenosis10.4
31renal cell carcinoma10.3
32leiomyoma10.3
33prostatitis10.3
34histiocytosis-lymphadenopathy plus syndrome10.3
35multiple cutaneous and uterine leiomyomas10.2
36fitz-hugh-curtis syndrome10.2
37cerebritis10.2
38aortic atherosclerosis10.2
39cutaneous leiomyosarcoma10.2
40leiomyosarcoma10.2
41prostate cancer10.2
42uterine fibroid10.2
43cystadenoma10.2
44gastric leiomyoma10.2
45papillary renal cell carcinoma10.2
46cutaneous leishmaniasis10.2
47kidney cancer10.2
48floating-harbor syndrome10.2
49familial renal cell carcinoma10.2
50waardenburg's syndrome10.1

Graphical network of the top 20 diseases related to Familial Hypercholesterolemia:



Diseases related to familial hypercholesterolemia

Clinical Features for Familial Hypercholesterolemia

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46OMIM
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Clinical features from OMIM:

144400,143890,603813,602247

Drugs & Therapeutics for Familial Hypercholesterolemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Familial Hypercholesterolemia

Drug clinical trials:

Search ClinicalTrials for Familial Hypercholesterolemia

Search NIH Clinical Center for Familial Hypercholesterolemia

Search CenterWatch for Familial Hypercholesterolemia

Inferred drug relations via UMLS60/NDF-RT40:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Familial Hypercholesterolemia cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Familial Hypercholesterolemia:
Hepatocyte transplantation for treatment of liver disorders
Hepatocyte transplantation for treatment of liver failure and inherited metabolic diseases
Embryonic/Adult Cultured Cells Related to Familial Hypercholesterolemia:
Hepatocytes, PMIDs: 15239608, 12777539, 9580649, 22789058, 22167636
Hepatocytes

Genetic Tests for Familial Hypercholesterolemia

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20GeneTests, 22GTR
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Genetic tests related to Familial Hypercholesterolemia:

id Genetic test Affiliating Genes
1 Familial Hypercholesterolemia20 22
2 Familial Hypercholesterolemias22

Anatomical Context for Familial Hypercholesterolemia

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Familial Hypercholesterolemia:

32
Heart, Liver, Testes, Endothelial, Brain, Monocytes, Whole blood, Lung, Skin, Bone, Bone marrow

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Familial Hypercholesterolemia:
id TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate, affected by disease

Animal Models for Familial Hypercholesterolemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Familial Hypercholesterolemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539510.4LDLR, ABCA1, APOA4, APOE
2MP:000537610.4LDLR, LCAT, FH, APOA1, APOE, APOA4
3MP:000537010.3LCAT, APOA1, APOE, APOB, PCSK9, ABCA1
4MP:000538510.1LCAT, APOA1, APOE, APOA4, APOB, PON2

Publications for Familial Hypercholesterolemia

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50PubMed
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Articles related to Familial Hypercholesterolemia:

(show top 50)    (show all 903)
idTitleAuthorsYear
1
Population pharmacokinetics of atorvastatin and its active metabolites in children and adolescents with heterozygous familial hypercholesterolemia: selective use of informative prior distributions from adults. (23381936)
2013
2
Delayed diagnosis of familial hypercholesterolemia: A case report of two patients from Egypt. (24314368)
2013
3
Aortic calcification: Novel insights from familial hypercholesterolemia and potential role for the low-density lipoprotein receptor. (23040868)
2013
4
Inheritance pattern of familial hypercholesterolemia and markers of cardiovascular risk. (23833242)
2013
5
Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. (22893714)
2012
6
Molecular characterization of Iranian patients with possible familial hypercholesterolemia. (22754187)
2011
7
Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. (21600517)
2011
8
Cytokines profile in serum of homozygous familial hypercholesterolemia is changed by LDL-apheresis. (21561790)
2011
9
Future issues, public policy, and public awareness of familial hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. (21600529)
2011
10
Efficacy and safety of long-term ezetimibe/simvastatin treatment in patients with familial hypercholesterolemia. (21617615)
2011
11
Pediatric aspects of familial hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. (21600527)
2011
12
Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia. (21538688)
2011
13
Gene therapy in a humanized mouse model of familial hypercholesterolemia leads to marked regression of atherosclerosis. (20976059)
2010
14
A tailored lifestyle intervention to reduce the cardiovascular disease risk of individuals with Familial Hypercholesterolemia (FH): design of the PRO-FIT randomised controlled trial. (20156339)
2010
15
Moderate phenotypic expression of familial hypercholesterolemia in Tunisia. (20144596)
2010
16
Malondialdehyde (MDA) and protein carbonyl (PCO) levels as biomarkers of oxidative stress in subjects with familial hypercholesterolemia. (20691171)
2010
17
Optimal management of familial hypercholesterolemia: treatment and management strategies. (21191428)
2010
18
Carotid atherosclerosis progression in familial hypercholesterolemia patients: a pooled analysis of the ASAP, ENHANCE, RADIANCE 1, and CAPTIVATE studies. (20494942)
2010
19
Usefulness of genetic polymorphisms and conventional risk factors to predict coronary heart disease in patients with familial hypercholesterolemia. (19166692)
2009
20
Dutch national screening and disease management program for Familial Hypercholesterolemia (FH) - A model for Saudi Arabia? (23960585)
2009
21
5-Lipoxygenase activating protein (ALOX5AP) gene variants associate with the presence of xanthomas in familial hypercholesterolemia. (19361804)
2009
22
Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene. (18263977)
2008
23
Screening for familial hypercholesterolemia: what is the most effective strategy? (18059381)
2008
24
Simvastatin with or without ezetimibe in familial hypercholesterolemia. (18677797)
2008
25
Two new large deletions in the low density lipoprotein receptor (LDLR) gene not revealed by PCR-based molecular diagnosis of familial hypercholesterolemia. (17399720)
2008
26
Evidence that non-lipid cardiovascular risk factors are associated with high prevalence of coronary artery disease in patients with heterozygous familial hypercholesterolemia or familial combined hyperlipidemia. (17188767)
2007
27
Familial hypercholesterolemia presenting as intracranial xanthoma. (16944620)
2006
28
Low-density lipoprotein receptor genotype and response to pravastatin in children with familial hypercholesterolemia: substudy of an intima-media thickness trial. (16286607)
2005
29
Long-term survival of childhood coronary artery disease in a patient severely affected with familial hypercholesterolemia. (15342318)
2004
30
Effects of atorvastatin and simvastatin on low-density lipoprotein subfraction profile, low-density lipoprotein oxidizability, and antibodies to oxidized low-density lipoprotein in relation to carotid intima media thickness in familial hypercholesterolemia. (15222407)
2004
31
The Delta>15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction-based diagnostic assay and prevalence in Quebec. (14756670)
2004
32
Lipid levels and their genetic regulation in patients with familial hypercholesterolemia and familial defective apolipoprotein B-100: the MEDPED Slovakia Project. (14615272)
2003
33
Efficacy and safety of atorvastatin in children and adolescents with familial hypercholesterolemia or severe hyperlipidemia: a multicenter, randomized, placebo-controlled trial. (12915827)
2003
34
Familial hypercholesterolemia--improving treatment and meeting guidelines. (12727001)
2003
35
Dyslipidemia in young Japanese children: its relation to familial hypercholesterolemia and familial combined hyperlipidemia. (12421255)
2002
36
C-reactive protein in patients with familial hypercholesterolemia: no effect of simvastatin therapy. (11472751)
2001
37
Lipoprotein(a) in homozygous familial hypercholesterolemia. (10669652)
2000
38
Additive effects of another kind of HMG-CoA reductase inhibitor with different pharmacokinetics in the treatment of heterozygous familial hypercholesterolemia. (11187857)
2000
39
Evaluation of a newly discovered LDL receptor mutation (exon 10, GAC>AAC, D271N, "FH Graz-1") in familial hypercholesterolemia-- a familystudy]. (10230472)
1999
40
Apolipoprotein A-I kinetics in heterozygous familial hypercholesterolemia: a stable isotope study. (10428988)
1999
41
A novel soluble chimera for the treatment of familial hypercholesterolemia. (10340541)
1999
42
Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. (10206683)
1998
43
Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia. (7550239)
1995
44
Elevated levels of lipoprotein (a) in children with familial hypercholesterolemia. (8197753)
1994
45
Efficacy and safety of a combination fluvastatin-bezafibrate treatment for familial hypercholesterolemia: comparative analysis with a fluvastatin-cholestyramine combination. (8192170)
1994
46
Deletion of exon 15 of the LDL receptor gene is associated with a mild form of familial hypercholesterolemia. FH-Espoo. (8218110)
1993
47
Apolipoprotein E polymorphism association with lipoprotein profile in endogenous hypertriglyceridemia and familial hypercholesterolemia. (1998645)
1991
48
Effects of pravastatin and cholestyramine on products of the mevalonate pathway in familial hypercholesterolemia. (1940625)
1991
49
Lecithin: cholesterol acyltransferase activity in familial hypercholesterolemia treated with simvastatin and simvastatin plus low-dose colestipol. (1880219)
1991
50
TaqI polymorphism in the LDL receptor gene and a TaqI 1.5-kb band associated with familial hypercholesterolemia. (2901393)
1988

Genetic Variations for Familial Hypercholesterolemia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Familial Hypercholesterolemia:

62 (show all 91)
id Symbol AA change Variation ID SNP ID
1LDLRp.Arg78CysVAR_005307
2LDLRp.Trp87GlyVAR_005308
3LDLRp.Cys89TyrVAR_005309
4LDLRp.Asp90AsnVAR_005311
5LDLRp.Asp90TyrVAR_005312
6LDLRp.Gln92GluVAR_005313
7LDLRp.Cys95GlyVAR_005314
8LDLRp.Glu101LysVAR_005315
9LDLRp.Cys116ArgVAR_005317
10LDLRp.Glu140LysVAR_005318
11LDLRp.Cys160TyrVAR_005320
12LDLRp.Asp168HisVAR_005321
13LDLRp.Asp168AsnVAR_005322
14LDLRp.Asp168TyrVAR_005323
15LDLRp.Cys173TrpVAR_005325
16LDLRp.Asp175AsnVAR_005326
17LDLRp.Ser177LeuVAR_005327
18LDLRp.Cys197ArgVAR_005330
19LDLRp.Asp221GlyVAR_005332
20LDLRp.Asp221TyrVAR_005333
21LDLRp.Asp224ValVAR_005336
22LDLRp.Asp227GluVAR_005338
23LDLRp.Glu228LysVAR_005341
24LDLRp.Cys231GlyVAR_005342
25LDLRp.Cys248TyrVAR_005345
26LDLRp.Cys276TyrVAR_005349
27LDLRp.Glu277LysVAR_005350rs148698650
28LDLRp.Asp301AlaVAR_005352
29LDLRp.Cys302TyrVAR_005353
30LDLRp.Cys302TrpVAR_005354
31LDLRp.Cys313TyrVAR_005358
32LDLRp.Cys318PheVAR_005360
33LDLRp.His327TyrVAR_005361
34LDLRp.Cys329TyrVAR_005362
35LDLRp.Cys338SerVAR_005364
36LDLRp.Asp342AsnVAR_005366rs139361635
37LDLRp.Arg350ProVAR_005368
38LDLRp.Cys368ArgVAR_005374
39LDLRp.Ala399AspVAR_005376
40LDLRp.Leu414ArgVAR_005379
41LDLRp.Arg416GlnVAR_005380
42LDLRp.Arg416TrpVAR_005381
43LDLRp.Ile423ThrVAR_005382
44LDLRp.Val429MetVAR_005383rs28942078
45LDLRp.Ala431ThrVAR_005384rs28942079
46LDLRp.Asp433HisVAR_005385
47LDLRp.Asp482HisVAR_005391
48LDLRp.Trp483ArgVAR_005392
49LDLRp.Asn564HisVAR_005399rs28942086
50LDLRp.Asn564SerVAR_005400
51LDLRp.Asp579AsnVAR_005402
52LDLRp.Gly592GluVAR_005403
53LDLRp.Arg633CysVAR_005405
54LDLRp.Pro649LeuVAR_005406
55LDLRp.Cys667TyrVAR_005407rs28942083
56LDLRp.Cys677ArgVAR_005408
57LDLRp.Pro685LeuVAR_005410rs28942084
58LDLRp.Asp700GluVAR_005412
59LDLRp.Val797MetVAR_005415
60LDLRp.Tyr828CysVAR_005419rs28942085
61LDLRp.Ala50SerVAR_007979rs137853960
62LDLRp.Ser56ProVAR_007980
63LDLRp.Asp175TyrVAR_007981
64LDLRp.Asp221AsnVAR_007982
65LDLRp.Glu288LysVAR_007983
66LDLRp.Asp356TyrVAR_007984
67LDLRp.Gln366ArgVAR_007985
68LDLRp.Cys379TyrVAR_007986
69LDLRp.Leu401ValVAR_007987
70LDLRp.Leu432ValVAR_007988
71LDLRp.Pro608SerVAR_007989
72LDLRp.Phe403LeuVAR_008995
73LDLRp.Leu568ValVAR_008996
74LDLRp.Glu714LysVAR_008997
75LDLRp.Cys46SerVAR_013949
76LDLRp.Cys184TyrVAR_013951
77LDLRp.Cys261PheVAR_013953
78LDLRp.Cys134PheVAR_062371
79LDLRp.Cys134TrpVAR_062372
80LDLRp.Cys222TyrVAR_062373
81LDLRp.Gln254ProVAR_062374
82LDLRp.Cys276ArgVAR_062375
83LDLRp.Cys318ArgVAR_062376
84LDLRp.Cys358TyrVAR_062377
85LDLRp.Asn370ThrVAR_062378
86LDLRp.Asp415GlyVAR_062379
87LDLRp.Ile451ThrVAR_062380
88LDLRp.Leu479ProVAR_062381
89LDLRp.Asp579TyrVAR_062382
90LDLRp.Pro826SerVAR_062383
91LDLRp.Cys329PheVAR_067196

Expression for genes affiliated with Familial Hypercholesterolemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Hypercholesterolemia

Search GEO for disease gene expression data for Familial Hypercholesterolemia.

Pathways for genes affiliated with Familial Hypercholesterolemia

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51QIAGEN, 53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 29KEGG, 49PharmGKB
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Pathways related to Familial Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5LDLR, LDLRAP1
210.5LDLR, CETP, APOB
310.5CETP, ABCA1
410.5LDLR, HMGCR, ABCA1
510.5APOB, APOA1
610.5ABCA1, APOB, APOA1
710.5APOA1, APOB, ABCA1, LDLR
810.4APOA1, APOA4, APOB
9
Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)
10.4APOA1, APOA4, ABCA1
10
Hide members
10.4APOA1, APOE, APOB
1110.4APOA1, APOE, APOB
1210.4APOA1, APOA4, APOB, ABCA1
1310.4LDLR, APOB, APOA4, APOE, APOA1
14
Hide members
10.4APOA1, APOE, APOA4, APOB, LDLR
15
Hide members
10.4LCAT, APOA1, APOE, APOA4, APOB, ABCA1
16
Hide members
10.4LCAT, FH, APOA1, APOE, APOA4, APOB
17
Hide members
10.4LDLR, LCAT, CETP, HMGCR, ABCA1, APOB

Compounds for genes affiliated with Familial Hypercholesterolemia

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44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience
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Compounds related to Familial Hypercholesterolemia according to GeneCards/GeneDecks:

(show top 50)    (show all 122)
idCompoundScoreTop Affiliating Genes
1alpha tocopherol4410.9LCAT, LDLR
2psyllium4410.9LCAT, APOB, HMGCR, CETP, LDLR
3fenofibrate44 49 1112.9EPHX2, ABCA1, HMGCR, APOB, APOA1, COG2
4ezetimibe44 1111.9APOB, APOA1, ABCA1, COG2, LDLR, HMGCR
5probucol44 1111.9LDLR, LCAT, APOA1, APOE, APOB, ABCA1
6cholestyramine4410.8COG2, APOE, APOB, HMGCR, CETP, LDLR
7bezafibrate44 28 1112.8APOE, LDLR, CETP, HMGCR, APOB, ABCA1
8pravastatin44 49 28 11 2414.8ABCA1, APOB, APOE, LCAT, COG2, APOA1
9sterol4410.8PCSK9, APOE, APOA1, LCAT, COG2, APOB
10niacin44 1111.8COG2, CETP, LDLR, HMGCR, ABCA1, APOB
11gemfibrozil44 28 1112.8COG2, CETP, LDLR, APOA1, APOB, APOE
12cholesterol ester4410.8COG2, LCAT, APOA1, APOE, APOA4, APOB
13atorvastatin44 49 28 11 2414.8LCAT, COG2, LDLR, CETP, HMGCR, ABCA1
14lathosterol44 2411.8LDLR, APOE, CETP, HMGCR, APOB
15triacylglycerol4410.8CETP, COG2, LCAT, APOA1, APOE, APOA4
16simvastatin44 49 59 28 11 2415.8LCAT, LDLR, CETP, HMGCR, ABCA1, APOB
17retinyl palmitate44 2411.8COG2, LCAT, APOA1, APOE, APOA4, APOB
18rosuvastatin44 49 28 1113.8COG2, LDLR, CETP, HMGCR, APOB, APOA1
19intralipid4410.8APOE, APOB, LCAT, APOA1, APOA4, CETP
20ciprofibrate44 2811.8APOA1, EPHX2, HMGCR, LDLR, APOB
21fluvastatin44 49 28 1113.8LDLR, CETP, HMGCR, APOA1, COG2, APOB
22cholesterol44 28 11 2413.8LDLRAP1, CETP, HMGCR, ABCA1, PCSK9, PON2
23palmitate4410.8LDLR, CETP, COG2, LCAT
24phosphatidylcholine4410.8APOA4, APOE, ABCA1, CETP, LDLR, APOA1
25lovastatin44 49 59 28 1114.8APOB, COG2, LDLR, CETP, HMGCR, APOE
26colestipol4410.8APOA1, HMGCR, APOB, COG2
27xbai4410.8APOA4, LDLR, APOE
28phospholipid4410.8LCAT, COG2, ABCA1, PON2, LDLR, APOB
29aspirin44 49 28 2413.8ABCA1, APOB, APOA1, COG2, HMGCR, APOE
30dimyristoylphosphatidylcholine4410.8APOE, APOA4, LCAT, APOA1, LDLR
31campesterol44 2411.8HMGCR, APOE, APOB, APOA1
32mspi4410.7APOA4, LDLR, CETP, APOB, APOA1
33thyroxine44 2411.7APOA1, APOB, HMGCR, CETP, COG2, LDLR
34vitamin a44 11 2412.7CETP, LDLR, LCAT, APOA1, APOA4, APOB
35lipid4410.7APOA1, LCAT, APOB, COG2, APOE, APOA4
36fatty acid4410.7CETP, APOB, APOA4, FH, COG2, LCAT
3722r-hydroxycholesterol44 2811.7LDLR, APOA1, APOE, ABCA1
38testosterone44 59 11 2413.7COG2, APOB, APOE, APOA1, LCAT, EPHX2
39acipimox44 2811.7APOA1, APOB, HMGCR, CETP
40heparin44 28 11 2413.7COG2, APOE, APOA4, LCAT, LDLR, CETP
417-ketocholesterol44 2411.7APOA1, APOB, HMGCR, APOE
42atenolol44 28 49 11 2414.6APOE, LDLR, APOA1, COG2
43torcetrapib4410.6CETP, APOA1, LCAT
44serine4410.6HMGCR, ABCA1, EPHX2, APOB, LCAT, APOA1
45oleic acid44 28 11 2413.6LDLR, ABCA1, APOA4, APOB, CETP
46tocopherol4410.5APOB, HMGCR, APOA1, LDLR
47glutamine4410.4LCAT, LDLR, APOE, APOA4, APOB, EPHX2
48ascorbic acid44 2411.4APOA1, APOE, EPHX2, LDLR, CETP, LCAT
49dexamethasone44 49 28 1113.3APOA1, APOB, CD93, EPHX2, ABCA1, HMGCR
50homocysteine44 2411.1APOA1, APOE, APOB, COG2, CETP

GO Terms for genes affiliated with Familial Hypercholesterolemia

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Sources:
16Gene Ontology
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Cellular components related to Familial Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particleGO:03436410.7CETP, APOA4, APOE, APOA1, LCAT
2early endosomeGO:00576910.7APOA1, APOE, APOA4, APOB, PCSK9, LDLRAP1
3very-low-density lipoprotein particleGO:03436110.6APOA1, APOE, APOA4, APOB
4chylomicronGO:04262710.6APOE, APOA4, APOB
5low-density lipoprotein particleGO:03436210.6LDLR, APOB, APOE
6extracellular spaceGO:00561510.6LCAT, APOA1, APOE, APOA4, APOB, PCSK9
7endocytic vesicle lumenGO:07168210.5APOA1, APOE, APOB
8late endosomeGO:00577010.5LDLR, PCSK9, APOE
9extracellular regionGO:00557610.4LCAT, APOA1, APOE, APOA4, APOB, PON2
10intermediate-density lipoprotein particleGO:03436310.4APOE, APOB
11extrinsic to external side of plasma membraneGO:03123210.2PCSK9, APOE

Biological processes related to Familial Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1cholesterol transportGO:03030110.8LCAT, APOA1, APOB, CETP, LDLR
2cholesterol effluxGO:03334410.8APOA1, APOE, APOA4, APOB, ABCA1
3high-density lipoprotein particle remodelingGO:03437510.8LCAT, APOA1, APOE, APOA4, CETP
4cholesterol metabolic processGO:00820310.8APOA4, APOE, APOA1, LCAT, APOB, PCSK9
5reverse cholesterol transportGO:04369110.8LCAT, APOA1, APOE, APOA4, ABCA1, CETP
6lipoprotein metabolic processGO:04215710.8LDLR, CETP, ABCA1, PCSK9, APOB, APOA4
7cholesterol homeostasisGO:04263210.8LDLR, LDLRAP1, CETP, ABCA1, EPHX2, PCSK9
8lipoprotein biosynthetic processGO:04215810.8LCAT, APOA1, APOE, APOB
9very-low-density lipoprotein particle remodelingGO:03437210.8CETP, APOA4, APOE, LCAT
10receptor-mediated endocytosisGO:00689810.8LDLR, LDLRAP1, CETP, APOB, APOE
11phospholipid effluxGO:03370010.8APOA1, APOE, APOA4, ABCA1
12lipoprotein catabolic processGO:04215910.8APOE, APOB, LDLR
13retinoid metabolic processGO:00152310.8APOA1, APOE, APOA4, APOB, LDLR
14regulation of Cdc42 protein signal transductionGO:03248910.8APOA1, APOE, ABCA1
15phototransduction, visible lightGO:00760310.7APOA1, APOE, APOA4, APOB, LDLR
16small molecule metabolic processGO:04428110.7EPHX2, APOB, APOA4, APOE, APOA1, FH
17high-density lipoprotein particle assemblyGO:03438010.7ABCA1, APOE, APOA1
18positive regulation of cholesterol esterificationGO:01087310.7APOA1, APOE, APOA4
19phospholipid homeostasisGO:05509110.7CETP, ABCA1, APOA1
20low-density lipoprotein particle remodelingGO:03437410.7CETP, APOB, APOE
21triglyceride metabolic processGO:00664110.7APOE, PCSK9, CETP
22cholesterol importGO:07050810.7LDLR, APOA1
23regulation of intestinal cholesterol absorptionGO:03030010.7APOA4, APOA1
24peripheral nervous system axon regenerationGO:01401210.6APOA1, APOE
25high-density lipoprotein particle clearanceGO:03438410.6APOE, APOA1
26phosphatidylcholine metabolic processGO:04647010.6APOA4, CETP
27low-density lipoprotein particle clearanceGO:03438310.5APOB, LDLR
28phospholipid transportGO:01591410.5CETP, LDLR
29lipid homeostasisGO:05508810.5CETP, APOA4
30positive regulation of cholesterol effluxGO:01087510.4ABCA1, APOE
31negative regulation of macrophage derived foam cell differentiationGO:01074510.2CETP, ABCA1

Molecular functions related to Familial Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1low-density lipoprotein particle receptor bindingGO:05075010.7LDLRAP1, PCSK9, APOB, APOE
2cholesterol transporter activityGO:01712710.7CETP, APOA1, APOE, APOA4, APOB, ABCA1
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:06022810.7APOA1, APOE, APOA4
4phospholipid transporter activityGO:00554810.7CETP, ABCA1, APOA1
5lipid transporter activityGO:00531910.7APOE, APOA4, CETP
6beta-amyloid bindingGO:00154010.7LDLRAP1, APOE, APOA1
7cholesterol bindingGO:01548510.7APOA1, ABCA1, CETP
8apolipoprotein A-I bindingGO:03418610.7ABCA1, LCAT
9apolipoprotein receptor bindingGO:03419010.6PCSK9, APOA1
10very-low-density lipoprotein particle receptor bindingGO:07032610.6APOE, PCSK9
11phosphatidylcholine bindingGO:03121010.6CETP, APOA4
12phospholipid bindingGO:00554310.5APOA1, APOE, APOB, ABCA1
13apolipoprotein bindingGO:03418510.5PCSK9, ABCA1
14antioxidant activityGO:01620910.5APOA4, APOE
15low-density lipoprotein particle bindingGO:03016910.4PCSK9, LDLR
16lipid bindingGO:00828910.1CETP, APOA4, APOE

Products for genes affiliated with Familial Hypercholesterolemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Hypercholesterolemia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet