FH
MCID: FML021
MIFTS: 76

Familial Hypercholesterolemia (FH) malady

Genetic category

Summaries for Familial Hypercholesterolemia

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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NIH Rare Diseases:43 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 hypercholesterolemia and atherosclerosis. An important gene associated with Familial Hypercholesterolemia is LDLR (low density lipoprotein receptor), and among its related pathways are Endocytic Trafficking of EGFR and Golgi to ER Retrograde Transport. The drug ezetimibe and the compounds alpha tocopherol and fenofibrate have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and brain, and related mouse phenotypes are other and homeostasis/metabolism.

Wikipedia:64 Familial hypercholesterolemia (abbreviated FH, also spelled familial hypercholesterolaemia) is a genetic... more...

Description from OMIM:47 144400,143890

GeneReviews summary for hyperchol

Aliases & Classifications for Familial Hypercholesterolemia

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 31LifeMap Discovery™, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

familial hypercholesterolemia 8 19 43 31
hypercholesterolemia, autosomal dominant 19 43 45
familial hypercholesterolaemia 19 20 22
hypercholesterolemia, familial 9 47 61
fredrickson type iia hyperlipoproteinemia 8
familial hyperbetalipoproteinaemia 8
high serum cholesterol, familial 43
fredrickson type iia lipidaemia 8
hyperlipoproteinemia, type iia 19
hyperlipoproteinemia, type 2 a 43
hypercholesterolemia familial 45
familial hypercholesteremia 8
hyperbetalipoproteinemia 8
hyperlipidema, familial 43
type ii hyperlipidemia 8
fhc 43
fh 43


External Ids:

Disease Ontology8 DOID:13810
OMIM47 144400
NCIt40 C34704
MeSH35 D006938

Related Diseases for Familial Hypercholesterolemia

Sources:
17GeneCards, 18GeneDecks
See all sources

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 187)
idRelated DiseaseScoreTop Affiliating Genes
1hypercholesterolemia32.2APOA1, APOE, APOB, PON2, PCSK9, ABCA1
2atherosclerosis31.2LDLR, LDLRAP1, CETP, HMGCR, ABCA1, EPHX2
3coronary artery disease,30.9APOA4, APOB, PON2, ABCA1, HMGCR, CETP
4coronary heart disease30.8COG2, LCAT, APOA1, APOE, APOA4, APOB
5familial combined hyperlipidemia30.7APOA1, APOE, APOB, HMGCR
6xanthomatosis30.4APOE, APOB, ABCA1, LDLRAP1, LDLR
7acute myocardial infarction30.3LCAT, APOA1, APOB, HMGCR
8vascular disease30.3LCAT, APOA1, APOE, APOA4, APOB, ABCA1
9familial hypertriglyceridemia30.3APOA1, APOE, APOB
10hyperlipidemia type 330.2CETP, LDLR, HMGCR, APOB, COG2, APOA1
11hypertriglyceridemia30.2APOE, APOA4, APOB, ABCA1, HMGCR, CETP
12colorectal cancer30.0LDLR, EPHX2
13hyperalphalipoproteinemia30.0LCAT, APOA1, APOB, ABCA1, CETP, LDLR
14hypoalphalipoproteinemia30.0ABCA1, CETP, LDLR, APOB, APOA1, LCAT
15abetalipoproteinemia30.0LCAT, APOA1, APOE, APOB, PCSK9, CETP
16arteriosclerosis30.0COG2, APOA1, APOB, HMGCR, LDLR
17peripheral vascular disease30.0APOA1, APOB, HMGCR, CETP
18insulin resistance30.0COG2, LCAT, APOA1, APOA4, APOB, HMGCR
19venous thrombosis29.9APOB, HMGCR, CETP
20cerebral atherosclerosis29.9APOA1
21sitosterolemia29.9HMGCR
22fumarate hydratase deficiency10.5
23hereditary leiomyomatosis and renal cell cancer10.5
24supravalvular aortic stenosis10.4
25lip disease10.3
26multiple cutaneous and uterine leiomyomas10.3
27histiocytosis-lymphadenopathy plus syndrome10.3
28cutaneous leiomyosarcoma10.2
29uterine fibroid10.2
30floating-harbor syndrome10.2
31protein c deficiency10.2
32aortic atherosclerosis10.2
33hyperapobetalipoproteinemia10.2
34fitz-hugh-curtis syndrome10.2
35cystadenoma10.2
36gastric leiomyoma10.2
37papillary renal cell carcinoma10.2
38cutaneous leishmaniasis10.2
39familial renal cell carcinoma10.2
40waardenburg's syndrome10.1
41cerebritis10.1
42paraganglioma10.1
43pheochromocytoma10.1
44familial breast cancer10.1
45hyperaldosteronism, familial, type iii10.1
46leiomyoma, uterine, somatic10.1
47cerebrotendinous xanthomatosis10.1
48apob-related familial hypercholesterolemia, autosomal dominant10.1
49ldlr-related familial hypercholesterolemia, autosomal dominant10.1
50pcsk9-related familial hypercholesterolemia, autosomal dominant10.1

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



Diseases related to familial hypercholesterolemia

Clinical Features for Familial Hypercholesterolemia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

144400,143890

Drugs & Therapeutics for Familial Hypercholesterolemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-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 UMLS61/NDF-RT41:

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Familial Hypercholesterolemia:

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

Anatomical Context for Familial Hypercholesterolemia

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Familial Hypercholesterolemia:

33
Skin, Liver, Brain, Lung, Bone marrow, Whole blood, Heart, Skeletal muscle, Monocytes, T cells, B cells, Endothelial

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Familial Hypercholesterolemia:

37
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

Sources:
51PubMed
See all sources

Articles related to Familial Hypercholesterolemia:

(show top 50)    (show all 890)
idTitleAuthorsYear
1
Endothelial dysfunction, but not structural atherosclerosis, is evident early in children with heterozygous familial hypercholesterolemia. (23821294)
2014
2
The genetic spectrum of familial hypercholesterolemia in Pakistan. (23535506)
2013
3
Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum. (24373485)
2013
4
Defining patients at extremely high risk for coronary artery disease in heterozygous familial hypercholesterolemia. (22333410)
2012
5
Mipomersen: evidence-based review of its potential in the treatment of homozygous and severe heterozygous familial hypercholesterolemia. (22701100)
2012
6
ABCA1 gene promoter DNA methylation is associated with HDL particle profile and coronary artery disease in familial hypercholesterolemia. (22419126)
2012
7
Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. (22398274)
2012
8
JD induced pluripotent stem cell-derived hepatocytes faithfully recapitulate the pathophysiology of familial hypercholesterolemia. (22653811)
2012
9
Treatment of familial hypercholesterolemia: is there a need beyond statin therapy? (22135161)
2012
10
LDL-apheresis depletes apoE-HDL and pre-I^1-HDL in familial hypercholesterolemia: relevance to atheroprotection. (21957200)
2011
11
Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan. (21146822)
2011
12
Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia. (20663204)
2010
13
Genetic screening for homozygous and heterozygous familial hypercholesterolemia. (23776359)
2010
14
A novel mutation in proprotein convertase subtilisin/kexin type 9 gene leads to familial hypercholesterolemia in a Chinese family. (20529551)
2010
15
Transplantation of allogeneic bone marrow mesenchymal stromal cell-derived hepatocyte-like cells in homozygous familial hypercholesterolemia. (20078386)
2010
16
Evaluation of coronary flow velocity reserve in homozygous familial hypercholesterolemia by transthoracic Doppler echocardiography and dual-source computed tomography. (20800956)
2010
17
Effect of mipomersen, an apolipoprotein B synthesis inhibitor, on low-density lipoprotein cholesterol in patients with familial hypercholesterolemia. (20451687)
2010
18
Novel therapies and new targets of treatment for familial hypercholesterolemia. (21122677)
2010
19
The first recorded heterozygote for familial hypercholesterolemia. (21291805)
2009
20
Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family]. (18247305)
2008
21
Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia. (18940289)
2008
22
Atherogenic lipoprotein particle size and concentrations and the effect of pravastatin in children with familial hypercholesterolemia. (18492534)
2008
23
Aorta of young and middle-aged heterozygous familial hypercholesterolemia patients shows no functional or morphological impairment assessed by MRI. (19066011)
2008
24
A systematic review and meta-analysis of statin therapy in children with familial hypercholesterolemia. (17569881)
2007
25
Apolipoprotein B is associated with metabolic syndrome in Chinese families with familial combined hyperlipidemia, familial hypertriglyceridemia and familial hypercholesterolemia. (16828905)
2007
26
Different genes and polymorphisms affecting high-density lipoprotein cholesterol levels in Greek familial hypercholesterolemia patients. (17020471)
2006
27
Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease. (16606962)
2006
28
Disease knowledge and adherence to treatment in patients with familial hypercholesterolemia. (16601526)
2006
29
Low-density lipoprotein receptor genotype and response to pravastatin in children with familial hypercholesterolemia: substudy of an intima-media thickness trial. (16286607)
2005
30
Long-term stable expression of human apolipoprotein A-I mediated by helper-dependent adenovirus gene transfer inhibits atherosclerosis progression and remodels atherosclerotic plaques in a mouse model of familial hypercholesterolemia. (12742997)
2003
31
Magnitude of HDL cholesterol variation after high-dose atorvastatin is genetically determined at the LDL receptor locus in patients with homozygous familial hypercholesterolemia. (14512370)
2003
32
Increasing the sensitivity of single-strand conformation polymorphism analysis of the LDLR gene mutations in brazilian patients with familial hypercholesterolemia. (12113284)
2002
33
Early statin therapy restores endothelial function in children with familial hypercholesterolemia. (12505222)
2002
34
Differential hs-CRP reduction in patients with familial hypercholesterolemia treated with aggressive or conventional statin therapy. (12417288)
2002
35
Effectiveness of screening for known mutations in Sicilian patients with "probable" familial hypercholesterolemia. (12055704)
2001
36
Renin-angiotensin system polymorphisms and coronary events in familial hypercholesterolemia. (11082147)
2000
37
Case study: analysis of an acute anterior-lateral myocardial infarction in a 16-year-old patient with familial hypercholesterolemia. (10098011)
1999
38
Construction and in vitro functional evaluation of a low-density lipoprotein receptor/transferrin fusion protein as a therapeutic tool for familial hypercholesterolemia. (10340553)
1999
39
Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C]. (10487495)
1999
40
Genetic variation at the apoA-IV gene locus and response to diet in familial hypercholesterolemia. (9714133)
1998
41
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. (9259195)
1997
42
Familial hypercholesterolemia and familial defective apolipoprotein B-100: comparison of the phenotypic expression In 116 cases. (9360938)
1996
43
Efficacy and safety of triple therapy (fluvastatin-bezafibrate-cholestyramine) for severe familial hypercholesterolemia. (7604807)
1995
44
Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin. (8347689)
1993
45
The response to lovastatin treatment in patients with heterozygous familial hypercholesterolemia is modulated by apolipoprotein E polymorphism. (8345800)
1993
46
Deletion of exon 15 of the LDL receptor gene is associated with a mild form of familial hypercholesterolemia. FH-Espoo. (8218110)
1993
47
Therapy of severe familial heterozygous hypercholesterolemia by low-density lipoprotein apheresis with immunoadsorption: effects of the addition of 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors to therapy. (8312683)
1993
48
Identification of a heterozygous compound individual with familial hypercholesterolemia and familial defective apolipoprotein B-100. (2067318)
1991
49
Familial hypercholesterolemia in a rhesus monkey pedigree: molecular basis of low density lipoprotein receptor deficiency. (2326270)
1990
50
Linkage between familial hypercholesterolemia with xanthomatosis and the C3 polymorphism confirmed. (752554)
1978

Genetic Variations for Familial Hypercholesterolemia

Expression for genes affiliated with Familial Hypercholesterolemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
52QIAGEN, 54Reactome, 38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 50PharmGKB
See all sources

Pathways related to Familial Hypercholesterolemia according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5LDLR, LDLRAP1
210.5CETP, ABCA1
310.5LDLR, CETP, APOB
410.5LDLR, HMGCR, ABCA1
510.5APOB, APOA1
610.5ABCA1, APOB, APOA1
710.5APOA1, APOB, ABCA1, LDLR
8
Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)
10.4APOA1, APOA4, ABCA1
910.4APOA1, APOA4, APOB
1010.4APOA1, APOA4, APOB, ABCA1
11
Hide members
10.4APOA1, APOE, APOB
1210.4APOA1, APOE, APOB
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

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB, 60Tocris Bioscience
See all sources

Compounds related to Familial Hypercholesterolemia according to GeneCards/GeneDecks:

(show top 50)    (show all 122)
idCompoundScoreTop Affiliating Genes
1alpha tocopherol4510.9LCAT, LDLR
2fenofibrate45 50 1112.9EPHX2, ABCA1, HMGCR, APOB, APOA1, COG2
3psyllium4510.9LCAT, APOB, HMGCR, CETP, LDLR
4ezetimibe45 1111.9APOB, APOA1, ABCA1, COG2, LDLR, HMGCR
5probucol45 1111.9LDLR, LCAT, APOA1, APOE, APOB, ABCA1
6cholestyramine4510.8COG2, APOE, APOB, HMGCR, CETP, LDLR
7bezafibrate45 29 1112.8APOE, LDLR, CETP, HMGCR, APOB, ABCA1
8pravastatin45 50 29 11 2414.8ABCA1, APOB, APOE, LCAT, COG2, APOA1
9sterol4510.8PCSK9, APOE, APOA1, LCAT, COG2, APOB
10niacin45 1111.8COG2, CETP, LDLR, HMGCR, ABCA1, APOB
11gemfibrozil45 29 1112.8COG2, CETP, LDLR, APOA1, APOB, APOE
12cholesterol ester4510.8COG2, LCAT, APOA1, APOE, APOA4, APOB
13atorvastatin45 50 29 11 2414.8LCAT, COG2, LDLR, CETP, HMGCR, ABCA1
14lathosterol45 2411.8LDLR, APOE, CETP, HMGCR, APOB
15simvastatin45 50 60 29 11 2415.8LCAT, LDLR, CETP, HMGCR, ABCA1, APOB
16triacylglycerol4510.8CETP, COG2, LCAT, APOA1, APOE, APOA4
17retinyl palmitate45 2411.8COG2, LCAT, APOA1, APOE, APOA4, APOB
18rosuvastatin45 50 29 1113.8COG2, LDLR, CETP, HMGCR, APOB, APOA1
19ciprofibrate45 2911.8APOA1, EPHX2, HMGCR, LDLR, APOB
20intralipid4510.8APOE, APOB, LCAT, APOA1, APOA4, CETP
21fluvastatin45 50 29 1113.8LDLR, CETP, HMGCR, APOA1, COG2, APOB
22cholesterol45 29 11 2413.8LDLRAP1, CETP, HMGCR, ABCA1, PCSK9, PON2
23palmitate4510.8LDLR, CETP, COG2, LCAT
24phosphatidylcholine4510.8APOA4, APOE, ABCA1, CETP, LDLR, APOA1
25xbai4510.8APOA4, LDLR, APOE
26lovastatin45 50 60 29 1114.8APOB, COG2, LDLR, CETP, HMGCR, APOE
27colestipol4510.8APOA1, HMGCR, APOB, COG2
28phospholipid4510.8LCAT, COG2, ABCA1, PON2, LDLR, APOB
29aspirin45 50 29 2413.8ABCA1, APOB, APOA1, COG2, HMGCR, APOE
30dimyristoylphosphatidylcholine4510.8APOE, APOA4, LCAT, APOA1, LDLR
31campesterol45 2411.8HMGCR, APOE, APOB, APOA1
32mspi4510.7APOA4, LDLR, CETP, APOB, APOA1
33thyroxine45 2411.7APOA1, APOB, HMGCR, CETP, COG2, LDLR
34vitamin a45 11 2412.7CETP, LDLR, LCAT, APOA1, APOA4, APOB
35lipid4510.7APOA1, LCAT, APOB, COG2, APOE, APOA4
36fatty acid4510.7CETP, APOB, APOA4, FH, COG2, LCAT
3722r-hydroxycholesterol45 2911.7LDLR, APOA1, APOE, ABCA1
38testosterone45 60 11 2413.7COG2, APOB, APOE, APOA1, LCAT, EPHX2
39acipimox45 2911.7APOA1, APOB, HMGCR, CETP
40heparin45 29 11 2413.7COG2, APOE, APOA4, LCAT, LDLR, CETP
417-ketocholesterol45 2411.7APOA1, APOB, HMGCR, APOE
42atenolol45 29 50 11 2414.6APOE, LDLR, APOA1, COG2
43torcetrapib4510.6CETP, APOA1, LCAT
44serine4510.6HMGCR, ABCA1, EPHX2, APOB, LCAT, APOA1
45oleic acid45 29 11 2413.6LDLR, ABCA1, APOA4, APOB, CETP
46tocopherol4510.5APOB, HMGCR, APOA1, LDLR
47glutamine4510.4LCAT, LDLR, APOE, APOA4, APOB, EPHX2
48ascorbic acid45 2411.4APOA1, APOE, EPHX2, LDLR, CETP, LCAT
49dexamethasone45 50 29 1113.3APOA1, APOB, CD93, EPHX2, ABCA1, HMGCR
50homocysteine45 2411.1APOA1, APOE, APOB, COG2, CETP

GO Terms for genes affiliated with Familial Hypercholesterolemia

Sources:
16Gene Ontology
See all sources

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:00576910.6APOA1, 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
3reverse cholesterol transportGO:04369110.8LCAT, APOA1, APOE, APOA4, ABCA1, CETP
4high-density lipoprotein particle remodelingGO:03437510.8LCAT, APOA1, APOE, APOA4, CETP
5lipoprotein metabolic processGO:04215710.8LDLR, CETP, ABCA1, PCSK9, APOB, APOA4
6cholesterol homeostasisGO:04263210.8LDLR, LDLRAP1, CETP, ABCA1, EPHX2, PCSK9
7cholesterol metabolic processGO:00820310.8APOA4, APOE, APOA1, LCAT, APOB, PCSK9
8lipoprotein biosynthetic processGO:04215810.8LCAT, APOA1, APOE, APOB
9very-low-density lipoprotein particle remodelingGO:03437210.8CETP, APOA4, APOE, LCAT
10phospholipid effluxGO:03370010.8APOA1, APOE, APOA4, ABCA1
11receptor-mediated endocytosisGO:00689810.8LDLR, LDLRAP1, CETP, APOB, APOE
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
15small molecule metabolic processGO:04428110.7EPHX2, APOB, APOA4, APOE, APOA1, FH
16high-density lipoprotein particle assemblyGO:03438010.7ABCA1, APOE, APOA1
17phototransduction, visible lightGO:00760310.7APOA1, APOE, APOA4, APOB, LDLR
18phospholipid homeostasisGO:05509110.7CETP, ABCA1, APOA1
19positive regulation of cholesterol esterificationGO:01087310.7APOA1, APOE, APOA4
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
3phospholipid transporter activityGO:00554810.7CETP, ABCA1, APOA1
4phosphatidylcholine-sterol O-acyltransferase activator activityGO:06022810.7APOA1, APOE, APOA4
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Hypercholesterolemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet