MCID: FML035
MIFTS: 59

Familial Hyperlipidemia malady

Genetic diseases category

Summaries for Familial Hyperlipidemia

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MalaCards: Familial Hyperlipidemia, also known as familial hyperlipoproteinemia, is related to atherosclerosis and hypertension. An important gene associated with Familial Hyperlipidemia is APOC2 (apolipoprotein C-II), and among its related pathways are Scavenging by Class B Receptors and triacylglycerol degradation. The drugs fish oils and coenzyme q10 and the compounds alpha tocopherol and xbai have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and liver, and related mouse phenotypes are adipose tissue and liver/biliary system.

Aliases & Classifications for Familial Hyperlipidemia

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8Disease Ontology, 10DISEASES, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt
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Classifications:

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


Aliases & Descriptions:

familial hyperlipidemia 8 10
familial hyperlipoproteinemia 8 60
hyperlipidemia 60
hyperlipemia 8


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Disease Ontology8 DOID:1168

Related Diseases for Familial Hyperlipidemia

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17GeneCards, 18GeneDecks
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Diseases in the Hyperlipidemia Type 3 family:

familial hyperlipidemia

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

(show top 50)    (show all 208)
idRelated DiseaseScoreTop Affiliating Genes
1atherosclerosis30.7LPL, LPA, PPARA, APOB, APOC2, APOA2
2hypertension30.6APOA1, COG2, APOB, LPL, LPA, PPARA
3obesity30.6LDLR, CETP, PNLIP, USF1, LPL, LPA
4hepatitis30.5LDLR
5familial lipoprotein lipase deficiency30.4LPL
6coronary artery disease30.4APOA2, APOC3, APOA5, APOA1, LCAT, COG2
7hyperglycemia30.3CETP, HMGCR, LPL, LPA, PPARA, APOB
8type 2 diabetes mellitus30.3LDLR, COG2, LCAT, CETP, PNLIP, HMGCR
9familial combined hyperlipidemia30.3APOA1, APOB, HMGCR
10glucose intolerance30.2CETP, APOB, APOC2, LPL, APOA1
11hyperhomocysteinemia30.1LPA
12pancreatitis30.1PNLIP, LPL, APOC2
13ischemic heart disease30.1LPA, APOB, APOA1, COG2, LPL, HMGCR
14acute pancreatitis30.0APOC2, LPL, PNLIP
15stroke, ischemic30.0HMGCR, COG2, LPA, APOB, APOA1
16hyperlipoproteinemia type v30.0APOC2, LPL
17hyperlipidemia type 330.0LDLR, CETP, HMGCR, APOB, LPA, LPL
18familial hypercholesterolemia29.9PCSK9, APOB, HMGCR, LDLR, CETP
19familial hypertriglyceridemia29.9APOA1, APOA5, APOC3, APOA2, APOC2, APOB
20nephrotic syndrome29.9APOA1, HMGCR, CETP, LPA, APOB, LCAT
21fatty liver disease29.9PPARA
22ischemia29.9HMGCR, PPARA
23fish-eye disease29.9APOA1, LCAT, APOA2
24schizophrenia29.9LDLR, PPARA
25diabetic nephropathy29.9APOA1, APOB, HMGCR, LPA, PPARA
26lipodystrophy29.9APOC3, APOB, LDLR, HMGCR, LPL, PPARA
27cholestasis29.9CETP, LCAT
28xanthomatosis29.9LPL, APOB, LDLR
29vascular disease29.9HMGCR, LPL, LPA, PPARA, APOB, APOC2
30diabetes mellitus29.8CETP, HMGCR, LPL, LPA, PPARA, APOB
31lung cancer29.7PCSK9
32gout29.7LCAT
33dementia29.7CETP, LPL, LPA
34polycystic ovary syndrome29.7APOA1, PPARA
35osteoarthritis29.7PPARA
36uremia29.7LPL, LPA, APOC3, LDLR, LCAT
37essential hypertension29.7CETP, APOB, LPA, LPL, APOA1, LCAT
38proteinuria29.6LPA, HMGCR, CETP, APOA1, APOC3, LCAT
39hypercholesterolemia29.6APOC3, LDLR, CETP, HMGCR, APOA2, PCSK9
40hypertriglyceridemia29.6APOA1, LCAT, COG2, APOA5, APOC3, APOA2
41panhypopituitarism10.1
42liver disease10.0
43glycogen storage disease type 1a10.0
44hyperlipoproteinemia type iii10.0
45hyperlipoproteinemia type iv10.0
46lipoprotein lipase deficiency10.0LPL
47steatorrhea10.0PNLIP
48acromegaly10.0LPA
49cholesterol ester storage disease10.0PNLIP
50chylomicron retention disease10.0APOB

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



Diseases related to familial hyperlipidemia

Clinical Features for Familial Hyperlipidemia

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Drugs & Therapeutics for Familial Hyperlipidemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Familial Hyperlipidemia

Drug clinical trials:

Search ClinicalTrials for Familial Hyperlipidemia

Search NIH Clinical Center for Familial Hyperlipidemia

Search CenterWatch for Familial Hyperlipidemia

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Familial Hyperlipidemia

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Anatomical Context for Familial Hyperlipidemia

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32MalaCards
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MalaCards organs/tissues related to Familial Hyperlipidemia:

32
Heart, Endothelial, Liver, Adipocyte, Skin, Lung, Monocytes, T cells

Animal Models for Familial Hyperlipidemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Familial Hyperlipidemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1LDLR, PNLIP, LPL, PPARA, APOC3
2MP:00053708.3PNLIP, LDLR, PCSK9, LPL, PPARA, APOB
3MP:00053767.5LDLR, LCAT, APOA1, PNLIP, PCSK9, LPL

Publications for Familial Hyperlipidemia

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50PubMed
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Articles related to Familial Hyperlipidemia:

(show top 50)    (show all 302)
idTitleAuthorsYear
1
MTP gene polymorphisms and postprandial lipemia in familial combined hyperlipidemia: Effects of treatment with atorvastatin. (24378322)
2013
2
Low-density lipoprotein cholesterol, apolipoprotein B, and risk of coronary heart disease: from familial hyperlipidemia to genomics. (22531366)
2013
3
Lipid profile, low-density lipoprotein oxidation and ceruloplasmin in the progeny of families with a positive history of cardiovascular diseases and/or hyperlipidemia. (19648144)
2009
4
A novel mutation of the apolipoprotein A-I gene in a family with familial combined hyperlipidemia. (17950741)
2008
5
Pregnancy-induced severe gestational hyperlipidemia mimicking familial hyperlipidemia. (17097797)
2008
6
Metabolic syndrome prevalence and characteristics in Greek adults with familial combined hyperlipidemia. (17161236)
2007
7
High frequency of a retinoid X receptor gamma gene variant in familial combined hyperlipidemia that associates with atherogenic dyslipidemia. (17272748)
2007
8
Comparison of atorvastatin versus fenofibrate in reaching lipid targets and influencing biomarkers of endothelial damage in patients with familial combined hyperlipidemia. (17950105)
2007
9
High plasma level of remnant-like particles cholesterol in familial combined hyperlipidemia. (17227806)
2007
10
Apolipoprotein E polymorphism influences lipid phenotypes in Chinese families with familial combined hyperlipidemia. (17127808)
2006
11
The Gln223Arg polymorphism in the leptin receptor is associated with familial combined hyperlipidemia. (16432543)
2006
12
Soluble cell adhesion molecules s-VCAM-1 and s-ICAM-1 in subjects with familial combined hyperlipidemia. (16170396)
2005
13
Apolipoprotein B is associated with metabolic syndrome in Chinese pedigrees with familial hyperlipidemia]. (15854507)
2005
14
An omega-3 polyunsaturated fatty acid concentrate increases plasma high-density lipoprotein 2 cholesterol and paraoxonase levels in patients with familial combined hyperlipidemia. (14767865)
2004
15
Prothrombotic markers in familial combined hyperlipidemia: evidence of endothelial cell activation and relation to metabolic syndrome. (15262191)
2004
16
Can familial combined hyperlipidemia diagnostic criteria be improved by the use of a nomogram? (16265308)
2004
17
Rat model of familial combined hyperlipidemia as a result of comparative mapping. (14709677)
2004
18
Thioredoxin interacting protein in Dutch families with familial combined hyperlipidemia. (15368498)
2004
19
Biochemical and genetic association of plasma apolipoprotein A-II levels with familial combined hyperlipidemia. (12738753)
2003
20
Variants in the PPARgamma gene affect fatty acid and glycerol metabolism in familial combined hyperlipidemia. (14680975)
2003
21
Lipoprotein distribution in the metabolic syndrome, type 2 diabetes mellitus, and familial combined hyperlipidemia. (12957324)
2003
22
Small, dense LDL and elevated apolipoprotein B are the common characteristics for the three major lipid phenotypes of familial combined hyperlipidemia. (12750118)
2003
23
Delayed and exaggerated postprandial complement component 3 response in familial combined hyperlipidemia. (12006395)
2002
24
Evidence of insulin resistant lipid metabolism in adipose tissue in familial combined hyperlipidemia, but not type 2 diabetes mellitus. (12204806)
2002
25
Diagnosis of familial combined hyperlipidemia based on lipid phenotype expression in 32 families: results of a 5-year follow-up study. (11834528)
2002
26
Association between the alpha-adducin Gly460Trp polymorphism and systolic blood pressure in familial combined hyperlipidemia. (11775124)
2001
27
Lipoprotein and apolipoprotein abnormalities in familial combined hyperlipidemia: a 20-year prospective study. (11730829)
2001
28
Omacor in familial combined hyperlipidemia: effects on lipids and low density lipoprotein subclasses. (10657575)
2000
29
Mutations of the human hepatic lipase gene in patients with combined hypertriglyceridemia/hyperalphalipoproteinemia and in patients with familial combined hyperlipidemia. (10606208)
1999
30
Linkage of a candidate gene locus to familial combined hyperlipidemia: lecithin:cholesterol acyltransferase on 16q. (10559018)
1999
31
Serum leptin is elevated out of proportion to the body mass index in adolescent females with familial combined hyperlipidemia (FCH). (9924643)
1999
32
Safety and efficacy of long-term statin-fibrate combinations in patients with refractory familial combined hyperlipidemia. (9294990)
1997
33
No evidence of linkage between familial combined hyperlipidemia and genes encoding lipolytic enzymes in Finnish families. (9157946)
1997
34
Defects of insulin action on fatty acid and carbohydrate metabolism in familial combined hyperlipidemia. (9108790)
1997
35
A variation in the apolipoprotein C-III gene is associated with an increased number of circulating VLDL and IDL particles in familial combined hyperlipidemia. (9215535)
1997
36
Two novel apolipoprotein A-IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activity. (8956036)
1996
37
Impaired activation of adipocyte lipolysis in familial combined hyperlipidemia. (7738184)
1995
38
MR imaging of Achilles tendon in patients with familial hyperlipidemia: comparison with plain films, physical examination, and patients with traumatic tendon lesions. (7839978)
1995
39
Comparison of gemfibrozil versus simvastatin in familial combined hyperlipidemia and effects on apolipoprotein-B-containing lipoproteins, low-density lipoprotein subfraction profile, and low-density lipoprotein oxidizability. (7856526)
1995
40
Identification, molecular characterization, and cellular studies of an apolipoprotein E mutant (E1) in three unrelated families with hyperlipidemia. (7883834)
1995
41
Lipoprotein(a) plasma concentrations associated with lipolytic activities in eight kindreds with familial combined hyperlipidemia and normolipidemic subjects. (8510521)
1993
42
Use of cholestyramine in the treatment of children with familial combined hyperlipidemia. (8441109)
1993
43
Plasma triglyceride and LDL heterogeneity in familial combined hyperlipidemia. (8443147)
1993
44
Familial combined hyperlipidemia and abnormal lipoprotein lipase. (1390589)
1992
45
Hyperlipidemia, blood coagulation factors, hereditary familial factors and coronary atherosclerosis]. (1841765)
1991
46
Inheritance of low density lipoprotein subclass patterns in familial combined hyperlipidemia. (2369363)
1990
47
Genetic evidence from 7 families that the apolipoprotein B gene is not involved in familial combined hyperlipidemia. (1975179)
1990
48
Coexistence of familial dysalbuminemic hyperthyroxinemia with familial hypercholesterolemia and multiple lipoprotein type hyperlipidemia. (3407659)
1988
49
Integrated regulation of very low density lipoprotein triglyceride and apolipoprotein-B kinetics in man: normolipemic subjects, familial hypertriglyceridemia and familial combined hyperlipidemia. (7266376)
1981
50
Antithrombin functional activity after a fatty meal in normal subjects, familial hyperlipidemia, and nephrotic syndrome. (578151)
1977

Genetic Variations for Familial Hyperlipidemia

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Expression for genes affiliated with Familial Hyperlipidemia

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

Search GEO for disease gene expression data for Familial Hyperlipidemia.

Pathways for genes affiliated with Familial Hyperlipidemia

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

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9APOB, APOA1
29.8PNLIP, ABHD6
3
Hide members
9.6LPL, HMGCR, LDLR
49.6LDLR, APOB, APOA1
59.6PPARA, HMGCR, LDLR
69.5PNLIP, APOB, APOA1
79.5APOA1, APOB, PNLIP
89.5APOB, LPA, CETP, LDLR
99.5APOA1, APOA2, APOB, LPA
10
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9.2HMGCR, PPARA, APOA2, APOA5, APOA1
119.0APOA1, APOA5, APOC3, APOA2, PPARA, LPL
12
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8.4APOA1, APOC3, APOA2, APOC2, APOB, LPL
13
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8.4APOA1, APOC3, APOA2, APOC2, APOB, LPL
148.4APOA1, APOC3, APOA2, APOC2, APOB, LPL
15
Hide members
8.2LCAT, APOA1, APOA5, APOC3, APOA2, APOC2
16
Hide members
7.9HMGCR, LPL, APOB, APOC2, APOA2, APOC3
17
Hide members
7.8LDLR, LCAT, CETP, PNLIP, LPL, LPA

Compounds for genes affiliated with Familial Hyperlipidemia

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

(show top 50)    (show all 150)
idCompoundScoreTop Affiliating Genes
1alpha tocopherol4410.1LCAT, LPL, LDLR
2xbai449.9LPL, LDLR, APOC3
3rosiglitazone44 49 28 11 2413.8PPARA, COG2
4psyllium449.6LDLR, CETP, HMGCR, APOB, LCAT
5trioleoylglycerol449.6APOA1, PNLIP, LPL, APOC2
6dimyristoylphosphatidylcholine449.4APOA1, APOA5, APOA2, LPA, LCAT, LDLR
7colestipol449.4HMGCR, APOB, APOA1, COG2
8palmitate449.4COG2, LDLR, CETP, PPARA, LCAT
9fenofibric acid44 2810.3APOA1, APOC3, APOB, PPARA, HMGCR, LPL
10intralipid449.2APOA2, APOB, LPL, CETP, APOC3, APOA1
11p-opc449.2CETP, APOA2, LCAT, APOA1
12tocopherol449.2LPL, APOB, LDLR, APOA1, HMGCR
13ciprofibrate44 2810.2APOA1, APOB, PPARA, LPL, HMGCR, LDLR
14mspi449.1APOA1, APOC3, APOA2, APOB, LPA, CETP
15taurocholate449.1APOA1, APOC3, APOB, LPL, PNLIP, HMGCR
16retinyl palmitate44 2410.0COG2, LPL, APOB, APOA1, LCAT, PNLIP
17cholestyramine448.9LDLR, CETP, HMGCR, LPA, APOB, APOC3
18oleic acid44 28 11 2411.9CETP, PNLIP, LPL, PPARA, LDLR, LPA
19cerivastatin44 49 28 1111.9COG2, APOA1, PPARA, APOB, HMGCR
20homocysteine44 249.9APOB, APOC3, CETP, LPA, APOC2, APOA1
21probucol44 119.8CETP, HMGCR, LPL, PPARA, APOB, APOA1
22stearic acid44 11 2410.8PNLIP, LPL, PPARA, CETP, COG2, LDLR
23ezetimibe44 119.8COG2, PPARA, HMGCR, CETP, LDLR, APOB
24metformin44 49 1110.7COG2, APOA1, APOB, PPARA, PNLIP, LPL
25rosuvastatin44 49 28 1111.6LDLR, CETP, HMGCR, PPARA, APOB, APOC3
26fluvastatin44 49 28 1111.5APOB, COG2, LDLR, CETP, HMGCR, LPL
27phosphatidylcholine448.5LCAT, LDLR, PNLIP, LPL, LPA, CETP
28vitamin a44 11 2410.5LDLR, CETP, LCAT, APOA1, APOC3, APOC2
29thyroxine44 249.5APOB, CETP, COG2, LDLR, APOA1, HMGCR
30aspirin44 49 28 2411.4HMGCR, LDLR, PPARA, APOB, APOA1, COG2
31lovastatin44 49 59 28 1112.4LDLR, CETP, HMGCR, LPL, LPA, APOB
32niacin44 119.4HMGCR, APOB, APOA1, COG2, PPARA, LPL
33sterol448.3LCAT, APOA1, APOB, PPARA, COG2, USF1
34pravastatin44 49 28 11 2412.2COG2, LCAT, APOA1, APOC3, APOB, PPARA
35simvastatin44 49 59 28 11 2413.1CETP, LDLR, HMGCR, LPL, COG2, LCAT
36phospholipid448.0COG2, LCAT, APOA1, APOC3, APOA2, APOC2
37testosterone44 59 11 2410.9COG2, LCAT, APOA1, APOC3, APOB, PPARA
38atorvastatin44 49 28 11 2411.9COG2, LCAT, APOA1, APOC3, APOB, PPARA
39fenofibrate44 49 119.7LDLR, CETP, HMGCR, COG2, APOA1, APOA5
40cholesterol ester447.7COG2, LCAT, APOA1, LDLR, CETP, HMGCR
41gemfibrozil44 28 119.7CETP, HMGCR, LPL, LPA, PPARA, APOB
42estrogen447.7CETP, APOA2, LPL, LPA, PPARA, APOB
43bezafibrate44 28 119.7COG2, LCAT, APOA1, APOC3, APOA2, APOB
44glucose447.7PPARA, USF1, PNLIP, APOC2, LPA, APOA2
45heparin44 28 11 2410.6LDLR, CETP, COG2, LCAT, APOA5, APOC3
46serine447.6LCAT, APOA1, APOC3, APOA2, APOC2, PNLIP
47triacylglycerol447.6LDLR, COG2, LCAT, APOA1, APOA5, APOC3
48fatty acid447.4LPA, LPL, USF1, PNLIP, CETP, LDLR
49cholesterol44 28 11 249.7COG2, LCAT, APOA1, APOA5, APOC3, APOA2
50lipid446.6PPARA, LPA, LPL, USF1, PCSK9, HMGCR

GO Terms for genes affiliated with Familial Hyperlipidemia

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

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:0716829.9APOB, APOA1
2spherical high-density lipoprotein particleGO:0343669.7APOC2, APOA2, APOC3, APOA1
3low-density lipoprotein particleGO:0343629.7APOA5, APOC2, APOB, LDLR
4intermediate-density lipoprotein particleGO:0343639.6APOB, APOC2, APOC3
5high-density lipoprotein particleGO:0343649.5LCAT, APOA1, APOA5, APOA2, CETP
6chylomicronGO:0426279.4APOA5, APOC3, APOA2, APOC2, APOB, LPL
7very-low-density lipoprotein particleGO:0343619.1LPL, APOA1, APOA5, APOC3, APOA2, APOC2
8early endosomeGO:0057699.0APOA1, APOC3, APOA2, APOC2, APOB, PCSK9
9extracellular spaceGO:0056158.4LCAT, APOA1, APOA5, APOC3, APOC2, APOB
10extracellular regionGO:0055767.9LCAT, APOA1, APOA5, APOC3, APOA2, APOC2

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

(show top 50)    (show all 63)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of very-low-density lipoprotein particle remodelingGO:01090210.5APOA5, APOC2
2negative regulation of lipid metabolic processGO:04583310.4APOC3, APOC2
3negative regulation of cholesterol importGO:06062110.4APOC3, APOA2
4chylomicron remodelingGO:03437110.4LPL, APOC2
5negative regulation of cholesterol transportGO:03237510.4APOA2, APOC2
6negative regulation of very-low-density lipoprotein particle clearanceGO:01091610.4APOC2, APOC3
7negative regulation of low-density lipoprotein particle clearanceGO:01098910.4PCSK9, APOC3
8positive regulation of lipid catabolic processGO:05099610.4APOA5, APOA2
9triglyceride-rich lipoprotein particle remodelingGO:03437010.4APOA5, APOA2, APOC2
10negative regulation of lipase activityGO:06019210.3APOA2, APOA1
11lipoprotein catabolic processGO:04215910.3APOB, LDLR
12regulation of Cdc42 protein signal transductionGO:03248910.3APOA1, APOC3
13lipoprotein transportGO:04295310.2APOC3, APOC2, APOB
14triglyceride mobilizationGO:00664210.2APOC3, APOB
15regulation of intestinal cholesterol absorptionGO:03030010.2APOA2, APOA1
16negative regulation of receptor-mediated endocytosisGO:04826110.2APOC3, APOC2
17cholesterol importGO:07050810.2LDLR, APOA1
18low-density lipoprotein particle remodelingGO:03437410.2CETP, APOB, APOA2
19high-density lipoprotein particle assemblyGO:03438010.2APOA1, APOA2
20high-density lipoprotein particle clearanceGO:03438410.2APOC2, APOA2, APOA1
21protein oxidationGO:01815810.2APOA1, APOA2
22chylomicron remnant clearanceGO:03438210.2APOC3, APOC2
23negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.1APOA1, APOC3, APOA2
24phosphatidylcholine biosynthetic processGO:00665610.1APOA2, APOA1, LCAT
25negative regulation of cytokine secretion involved in immune responseGO:00274010.1APOA1, APOA2
26lipoprotein biosynthetic processGO:04215810.1LCAT, APOA1, APOB
27organ regenerationGO:03110010.1APOA1, APOA5, APOA2
28very-low-density lipoprotein particle remodelingGO:03437210.1LCAT, APOC2, LPL, CETP
29positive regulation of triglyceride catabolic processGO:01089810.0APOA5, APOC2
30triglyceride catabolic processGO:01943310.0APOA5, APOC3, APOB, LPL
31lipid transportGO:00686910.0APOA5, LPA, CETP
32phospholipid effluxGO:03370010.0APOC2, APOA2, APOC3, APOA1
33positive regulation of cholesterol storageGO:01088610.0LPL, APOB
34peptidyl-methionine modificationGO:01820610.0APOA1, APOA2
35receptor-mediated endocytosisGO:0068989.9APOB, LPA, CETP, LDLR
36cholesterol effluxGO:0333449.8APOA1, APOC3, APOA2, APOC2, APOB
37high-density lipoprotein particle remodelingGO:0343759.8LCAT, APOA1, APOC3, APOA2, CETP
38response to drugGO:0424939.7APOA1, APOC3, APOA2, APOC2, LPL
39triglyceride metabolic processGO:0066419.7APOA5, APOC3, APOA2, LPL, PCSK9, CETP
40positive regulation of cholesterol esterificationGO:0108739.7APOA2, APOA1
41cholesterol transportGO:0303019.6LCAT, APOA1, APOB, CETP, LDLR
42reverse cholesterol transportGO:0436919.6LCAT, APOA1, APOC3, APOA2, APOC2, CETP
43cellular lipid metabolic processGO:0442559.6APOA1, APOA5, APOA2, PPARA, HMGCR
44triglyceride homeostasisGO:0703289.6APOA1, APOA5, APOC3, APOC2, LPL, CETP
45cholesterol metabolic processGO:0082039.1LCAT, LDLR, CETP, PCSK9, APOB, APOA2
46retinoid metabolic processGO:0015238.9LDLR, PNLIP, LPL, APOB, APOC2, APOA2
47phototransduction, visible lightGO:0076038.9APOA1, APOC3, APOA2, APOC2, APOB, LPL
48cholesterol homeostasisGO:0426328.7APOA1, LCAT, APOA5, APOC3, APOA2, APOC2
49lipoprotein metabolic processGO:0421578.0APOC2, APOB, PPARA, LPA, LPL, PCSK9
50small molecule metabolic processGO:0442817.5APOC2, APOA2, APOC3, APOA5, APOA1, LCAT

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein lipase activator activityGO:06023010.3APOC2, APOA5
2triglyceride bindingGO:01712910.3CETP, LPL
3phosphatidylcholine bindingGO:03121010.2CETP, APOA2, APOA5
4low-density lipoprotein particle receptor bindingGO:05075010.2APOA5, APOB, PCSK9
5phosphatidylcholine-sterol O-acyltransferase activator activityGO:06022810.1APOA1, APOA2
6apolipoprotein receptor bindingGO:03419010.1APOA1, APOA2, PCSK9
7phospholipid transporter activityGO:00554810.1CETP, APOA1
8apolipoprotein bindingGO:03418510.1PCSK9, LPL, LPA
9high-density lipoprotein particle receptor bindingGO:07065310.1APOA1, APOC3, APOA2
10high-density lipoprotein particle bindingGO:00803510.0APOA2, APOA1
11lipid transporter activityGO:00531910.0CETP, APOA2
12lipase inhibitor activityGO:0551029.9APOC2, APOA2, APOC3, APOA1
13triglyceride lipase activityGO:0048069.8PNLIP, LPL
14cholesterol bindingGO:0154859.8CETP, APOA2, APOC3, APOA1
15cholesterol transporter activityGO:0171279.8APOA1, APOA2, APOB, CETP
16heparin bindingGO:0082019.8LPL, LPA, APOB, APOA5
17lipid bindingGO:0082899.8APOA5, APOA2, APOC2, PPARA, CETP
18low-density lipoprotein particle bindingGO:0301699.7LDLR, PCSK9
19phospholipid bindingGO:0055439.6APOA1, APOA5, APOC3, APOA2, APOB
20enzyme bindingGO:0198999.6APOA1, APOA5, APOB, USF1
21protein bindingGO:0055157.1COG2, LCAT, APOA1, APOA5, APOA2, APOB

Products for genes affiliated with Familial Hyperlipidemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Hyperlipidemia

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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