MCID: FML020
MIFTS: 59

Familial Combined Hyperlipidemia malady

Metabolic, Genetic categories

Summaries for Familial Combined Hyperlipidemia

Sources:
47OMIM, 33MalaCards
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MalaCards: Familial Combined Hyperlipidemia, also known as hyperlipidemia, familial combined, susceptibility to, is related to insulin resistance and hypertriglyceridemia. An important gene associated with Familial Combined Hyperlipidemia is USF1 (upstream transcription factor 1), and among its related pathways are Scavenging by Class B Receptors and CDP-diacylglycerol biosynthesis I. The compounds rosiglitazone and fenofibric acid have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and lung, and related mouse phenotypes are cardiovascular system and adipose tissue.

Description from OMIM:47 144250,602491

Aliases & Classifications for Familial Combined Hyperlipidemia

Sources:
8Disease Ontology, 9diseasecard, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 61UMLS, 27ICD9CM, 57SNOMED-CT, 40NCIt, 35MeSH, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

familial combined hyperlipidemia 8 10
hyperlipidemia, familial combined, susceptibility to 9 22
hyperlipidemia, familial combined 47 61
combined hyperlipidemia, familial 9 47
mixed hyperlipidemia 8 45
hyperbetalipoproteinemia with prebetalipoproteinemia 8
familial multiple lipoprotein-type hyperlipidemia 8
hyperlipidemia familial combined 45
type iib hyperlipoproteinemia 8
hyperlipoproteinemia type iib 61
mixed hyperlipidaemia 8


External Ids:

Disease Ontology8 DOID:13809
ICD9CM27 272.2
NCIt40 C34821
OMIM47 144250
MeSH35 D006950
ICD1025 E78.2

Related Diseases for Familial Combined Hyperlipidemia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Familial Combined Hyperlipidemia family:

hyperlipidemia, combined, 2

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

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1insulin resistance31.0LSL, UCP1, APOA1, PNPLA2, LIPE, LIPC
2hypertriglyceridemia30.9APOB, APOC2, APOA4, APOC3, APOA5, APOA1
3familial hypertriglyceridemia30.9USF1, LPL, APOB, APOC3
4familial hypercholesterolemia30.9APOA1, APOA4, APOB, LPL, LIPC
5hypercholesterolemia30.9LIPC, LPL, FABP2, APOB, APOC2, APOC3
6coronary artery disease,30.7APOA1, APOA5, APOC3, APOA4, APOB, LPL
7coronary heart disease30.6LIPE, LIPC, USF1, LPL, FABP2, APOB
8atherosclerosis30.6LSL, MNDA, LIPE, LIPC, ATHS, USF1
9hyperalphalipoproteinemia30.1APOA1, APOC3, APOB, LIPC
10vascular disease30.1APOA1, APOA4, APOC2, APOB, LPL, LIPC
11fatty liver disease30.1LSL, APOA1, APOC3, APOB, FABP2, LPL
12hyperlipoproteinemia type v30.0APOC2, LPL
13lip disease10.5
14familial hypertension10.4
15cardiovascular disease risk factor10.3
16hyperlipidemia, combined, 210.3
17acute pancreatitis10.2
18recurrent acute pancreatitis10.2
19otosclerosis10.1
20panhypopituitarism10.1
21adult syndrome10.1
22n syndrome10.1
23char syndrome10.1
24mass syndrome10.1
25otosclerosis, familial10.1
26hyperapobetalipoproteinemia10.1
27familial combined hyperlipoproteinemia10.1
28lipoprotein lipase deficiency10.0LPL
29growth hormone deficiency10.0LSL
30thromboembolism10.0APOA1
31hyperuricemia10.0FABP2, APOB
32hepatitis c10.0LPL
33pancreatitis10.0LPL, APOC2
34acute myocardial infarction10.0APOB, APOA1
35hypertension10.0LPL, APOB, APOA1
36abetalipoproteinemia10.0APOA1, APOB, LPL
37xanthomatosis10.0LPL, APOB
38norum disease10.0LPL, APOB, APOA1
39metabolic syndrome x10.0LSL, LPL
40hypobetalipoproteinemia10.0APOA1, APOB
41acromegaly10.0LSL
42glucose intolerance10.0LSL, APOB, LPL, LIPE
43nephrotic syndrome10.0APOA1, APOB, LPL
44lipodystrophy10.0LSL, APOC3, LIPE, LPL, APOB
45uremia10.0LIPC, LPL, APOC3, LSL
46polycystic ovary syndrome10.0LSL, APOA1, LIPC, LIPE
47hyperinsulinism10.0LPL, APOB, LSL
48hypoalphalipoproteinemia10.0APOA1, APOC3, APOB, LPL, LIPC
49hyperlipidemia type 310.0APOA1, APOA5, APOB, LPL, LIPC
50familial lipoprotein lipase deficiency10.0LPL

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



Diseases related to familial combined hyperlipidemia

Clinical Features for Familial Combined Hyperlipidemia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

144250,602491

Clinical synopsis from OMIM:

144250

Drugs & Therapeutics for Familial Combined Hyperlipidemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Familial Combined Hyperlipidemia

Drug clinical trials:

Search ClinicalTrials for Familial Combined Hyperlipidemia

Search NIH Clinical Center for Familial Combined Hyperlipidemia

Search CenterWatch for Familial Combined Hyperlipidemia

Genetic Tests for Familial Combined Hyperlipidemia

Sources:
22GTR
See all sources

Genetic tests related to Familial Combined Hyperlipidemia:

id Genetic test Affiliating Genes
1 Hyperlipidemia, Familial Combined22

Anatomical Context for Familial Combined Hyperlipidemia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Familial Combined Hyperlipidemia:

33
Skin, Liver, Lung, Heart, Small intestine, Adipocyte, Monocytes, T cells, B cells, Endothelial

Animal Models for Familial Combined Hyperlipidemia or affiliated genes

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

MGI Mouse Phenotypes related to Familial Combined Hyperlipidemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538510.1APOA1, APOC3, APOA4, APOB, LPL, LIPE
2MP:000537510.0UCP1, APOC3, FABP2, LPL, LIPE, PNPLA2
3MP:00053709.8APOA1, APOB, FABP2, LPL, LIPE, PNPLA2
4MP:00053769.8C5AR2, UCP1, APOA1, APOA5, APOC3, APOA4

Publications for Familial Combined Hyperlipidemia

Sources:
51PubMed
See all sources

Articles related to Familial Combined Hyperlipidemia:

(show top 50)    (show all 272)
idTitleAuthorsYear
1
Genetic variants in adipose triglyceride lipase influence lipid levels in familial combined hyperlipidemia. (20832801)
2010
2
Novel drugs in familial combined hyperlipidemia: lessons from type 2 diabetes mellitus. (20739883)
2010
3
Serum adiponectin is decreased in patients with familial combined hyperlipidemia and normolipaemic relatives and is influenced by lipid-lowering treatment. (19632099)
2009
4
Remnant particles are the major determinant of an increased intima media thickness in patients with familial combined hyperlipidemia (FCH). (16677651)
2007
5
Increased plasma levels of oxysterols, in vivo markers of oxidative stress, in patients with familial combined hyperlipidemia: reduction during atorvastatin and fenofibrate therapy. (17291993)
2007
6
Apolipoprotein E polymorphism influences lipid phenotypes in Chinese families with familial combined hyperlipidemia. (17127808)
2006
7
Soluble cell adhesion molecules s-VCAM-1 and s-ICAM-1 in subjects with familial combined hyperlipidemia. (16170396)
2005
8
Familial combined hyperlipidemia: controversial aspects of its diagnosis and pathogenesis. (15478042)
2004
9
Prothrombotic markers in familial combined hyperlipidemia: evidence of endothelial cell activation and relation to metabolic syndrome. (15262191)
2004
10
Genetics of familial combined hyperlipidemia and risk of coronary heart disease. (14764618)
2004
11
Association of the APOLIPOPROTEIN A1/C3/A4/A5 gene cluster with triglyceride levels and LDL particle size in familial combined hyperlipidemia. (15001527)
2004
12
Thioredoxin interacting protein in Dutch families with familial combined hyperlipidemia. (15368498)
2004
13
Screening for familial combined hyperlipidemia in children using lipid phenotypes. (14718747)
2003
14
Intra-individual variations of fasting plasma lipids, apolipoproteins and postprandial lipemia in familial combined hyperlipidemia compared to controls. (12559610)
2003
15
Coronary artery disease risk in familial combined hyperlipidemia and familial hypertriglyceridemia: a case-control comparison from the National Heart, Lung, and Blood Institute Family Heart Study. (12847072)
2003
16
Identification of differentially expressed genes in subcutaneous adipose tissue from subjects with familial combined hyperlipidemia. (12032168)
2002
17
Reduced structural and functional skin capillaries in familial combined hyperlipidemia affected men, associated with increased remnant-like lipoprotein cholesterol levels. (12052483)
2002
18
Increased intima-media thickness in familial combined hyperlipidemia associated with apolipoprotein B. (11834529)
2002
19
Dyslipidemia in young Japanese children: its relation to familial hypercholesterolemia and familial combined hyperlipidemia. (12421255)
2002
20
In vivo modulation of plasma free fatty acids in patients with familial combined hyperlipidemia using lipid-lowering medication. (11932285)
2002
21
Association between the alpha-adducin Gly460Trp polymorphism and systolic blood pressure in familial combined hyperlipidemia. (11775124)
2001
22
Excess coronary heart disease in Familial Combined Hyperlipidemia, in relation to genetic factors and central obesity. (11472750)
2001
23
Relationship of insulin sensitivity and ApoB levels to intra-abdominal fat in subjects with familial combined hyperlipidemia. (11304474)
2001
24
In vivo evidence of defective postprandial and postabsorptive free fatty acid metabolism in familial combined hyperlipidemia. (10884291)
2000
25
Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia. (10958645)
2000
26
Lipoprotein (a) concentrations in patients with familial combined hyperlipidemia and hypertension. (10431554)
1999
27
Linkage of a candidate gene locus to familial combined hyperlipidemia: lecithin:cholesterol acyltransferase on 16q. (10559018)
1999
28
Coronary flow reserve in young men with familial combined hyperlipidemia. (10190876)
1999
29
Families with familial combined hyperlipidemia and families enriched for coronary artery disease share genetic determinants for the atherogenic lipoprotein phenotype. (9683614)
1998
30
Safety and efficacy of long-term statin-fibrate combinations in patients with refractory familial combined hyperlipidemia. (9294990)
1997
31
No evidence of linkage between familial combined hyperlipidemia and genes encoding lipolytic enzymes in Finnish families. (9157946)
1997
32
Defects of insulin action on fatty acid and carbohydrate metabolism in familial combined hyperlipidemia. (9108790)
1997
33
A mouse model with features of familial combined hyperlipidemia. (8994037)
1997
34
Hypertriglyceridemia and plasma insulin in combined familial hyperlipidemia]. (9547191)
1997
35
Genetic factors in familial combined hyperlipidemia and insulin resistance syndrome associated with dyslipidemia]. (9436476)
1997
36
Two novel apolipoprotein A-IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activity. (8956036)
1996
37
Apolipoprotein E polymorphism influences lipid phenotypic expression, but not the low density lipoprotein subfraction distribution in familial combined hyperlipidemia. (8902157)
1996
38
In vitro lipolysis of human VLDL: effect of different VLDL compositions in normolipidemia, familial combined hyperlipidemia and familial hypertriglyceridemia. (8678926)
1996
39
Angiographically silent atherosclerosis detected by intravascular ultrasound in patients with familial hypercholesterolemia and familial combined hyperlipidemia: correlation with high density lipoproteins. (8636537)
1996
40
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
41
A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity. (7753827)
1995
42
The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity. (8199176)
1994
43
Complex segregation analysis provides evidence for a major gene acting on serum triglyceride levels in 55 British families with familial combined hyperlipidemia. (8049184)
1994
44
Familial combined hyperlipidemia in children: clinical expression, metabolic defects, and management. (7859485)
1994
45
Lipoprotein(a) plasma concentrations associated with lipolytic activities in eight kindreds with familial combined hyperlipidemia and normolipidemic subjects. (8510521)
1993
46
Familial combined hyperlipidemia in children: clinical expression, metabolic defects, and management. (8345411)
1993
47
Plasma triglyceride and LDL heterogeneity in familial combined hyperlipidemia. (8443147)
1993
48
The effects of omega 3 and omega 6 fatty acid-enriched diets on plasma lipoproteins and apoproteins in familial combined hyperlipidemia. (3185285)
1988
49
Comparison of gemfibrozil and clofibrate on serum lipids in familial combined hyperlipidemia. A randomized placebo-controlled, double-blind, crossover clinical trial. (3056431)
1988
50
Familial combined hyperlipidemia. Part I. Lipid values and the lipoprotein pattern. (2941985)
1986

Genetic Variations for Familial Combined Hyperlipidemia

Expression for genes affiliated with Familial Combined Hyperlipidemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Familial Combined Hyperlipidemia

Search GEO for disease gene expression data for Familial Combined Hyperlipidemia.

Pathways for genes affiliated with Familial Combined Hyperlipidemia

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 4Cell Signaling Technology, 50PharmGKB
See all sources

Compounds for genes affiliated with Familial Combined Hyperlipidemia

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

Compounds related to Familial Combined Hyperlipidemia according to GeneCards/GeneDecks:

(show top 50)    (show all 95)
idCompoundScoreTop Affiliating Genes
1rosiglitazone45 50 29 11 2414.7LSL, UCP1, LIPE
2fenofibric acid45 2911.7LPL, APOB, APOC3, APOA1
3palmitate4510.7FABP2, UCP1
4xbai4510.7APOC3, APOA4, APOB, LPL
5retinyl palmitate45 2411.7APOA1, APOA4, APOB, LPL
6trioleoylglycerol4510.7APOA1, APOC2, LPL, LIPC
7acipimox45 2911.6LIPE, APOB, APOA1, LSL
8probucol45 1111.6APOA1, APOB, LPL, LIPC
9orlistat45 60 1112.6LSL, APOB, LPL, LIPC
10stearic acid45 11 2412.6FABP2, LPL, LIPC, LIPE, PNPLA2
11gemfibrozil45 29 1112.6APOA1, APOC3, APOC2, APOB, LPL, LIPC
12palmitic acid29 11 2412.6FABP2, LPL, LIPC, LIPE, PNPLA2
13oleic acid45 29 11 2413.6APOA4, APOB, FABP2, LPL, LIPC, LIPE
14bezafibrate45 29 1112.6UCP1, APOA1, APOC3, APOB, LPL, LIPC
15mspi4510.6APOA1, APOC3, APOA4, APOB
16myristic acid45 11 2412.6FABP2, LPL, LIPC, LIPE, PNPLA2
17carnitine4510.6LIPE, LPL, APOB, APOA1, UCP1
18cholesterol ester4510.6APOA1, APOC3, APOA4, APOB, LPL, LIPC
19lovastatin45 50 60 29 1114.6APOA1, APOC3, APOB, LPL, LIPC
20fenofibrate45 50 1112.6APOA1, APOA5, APOC3, APOB, FABP2, LPL
21taurocholate4510.6APOA1, APOC3, APOB, LPL
22phosphatidylcholine4510.6APOA1, APOA4, APOB, LPL, LIPC, LIPE
23intralipid4510.5LIPC, LPL, APOB, APOA4, APOC3, APOA1
24niacin45 1111.5LIPE, LPL, APOB, APOA1
25thyroxine45 2411.5LSL, UCP1, APOA1, APOB, LPL, LIPC
26atorvastatin45 50 29 11 2414.5APOA1, APOC3, APOB, LPL, LIPC
27homocysteine45 2411.5LSL, APOA1, APOC3, APOC2, APOB
28linoleic acid45 29 2412.5LSL, UCP1, FADS1, FABP2, LPL
29vitamin a45 11 2412.5APOA1, APOC3, APOA4, APOC2, APOB, FABP2
30p0024510.5LSL, UCP1, APOC3, APOA4, LIPC
31heparin45 29 11 2413.5LSL, APOA5, APOC3, APOA4, APOC2, APOB
32stavudine45 1111.4LPL, APOA1, UCP1
33carbohydrates4510.4LSL, APOC3, FABP2, LPL, LIPC
34sterol4510.4APOA1, APOB, USF1, LIPC, LIPE
35testosterone45 60 11 2413.4LSL, UCP1, APOA1, APOC3, APOB, LPL
36fibrinogen4510.4LSL, APOA1, APOC3, APOA4, APOB, LIPC
37creatinine4510.4LSL, APOA1, APOC3, APOA4, APOC2, APOB
38glycerol45 11 2412.3LSL, LPL, LIPC, LIPE, PNPLA2
39ciprofibrate45 2911.3LPL, APOB, APOA1
40phospholipid4510.3APOC3, APOA1, UCP1, APOA4, APOC2, LIPE
41metformin45 50 1112.3LSL, APOA1, APOB, LPL
42triacylglycerol4510.3PNPLA2, LIPE, LIPC, LPL, FABP2, APOB
43estrogen4510.2LSL, APOA1, APOC3, APOB, LPL, USF1
44glucose4510.2APOA1, UCP1, LSL, APOA5, APOC3, PNPLA2
45fatty acid4510.2LSL, LPL, FABP2, FADS1, APOB, APOC2
46arachidonic acid45 29 11 2413.1FADS1, FABP2, LPL, LIPC, LIPE, PNPLA2
47acetyl-coa45 2411.1FABP2, LPL, USF1, LIPC, LIPE
48cholesterol45 29 11 2413.1LIPE, LIPC, ATHS, USF1, LPL, FABP2
49lipid4510.0PNPLA2, APOC3, APOA5, APOA1, UCP1, LSL
50pyruvate459.9UCP1, APOC3, FABP2, USF1, LIPE

GO Terms for genes affiliated with Familial Combined Hyperlipidemia

Sources:
16Gene Ontology
See all sources

Cellular components related to Familial Combined Hyperlipidemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate-density lipoprotein particleGO:03436310.5APOB, APOC2, APOC3
2high-density lipoprotein particleGO:03436410.4APOA1, APOA5, APOA4, LIPC
3spherical high-density lipoprotein particleGO:03436610.4APOA1, APOC3, APOC2
4chylomicronGO:04262710.4APOA5, APOC3, APOA4, APOC2, APOB, LPL
5endocytic vesicle lumenGO:07168210.4APOB, APOA1
6very-low-density lipoprotein particleGO:03436110.4LPL, APOA1, APOA5, APOC3, APOA4, APOC2
7low-density lipoprotein particleGO:03436210.2APOA5, APOC2, APOB
8early endosomeGO:00576910.2APOA1, APOC3, APOA4, APOC2, APOB
9extracellular spaceGO:00561510.1APOA1, APOA5, APOC3, APOA4, APOC2, APOB
10extracellular regionGO:0055769.8APOA1, APOA5, APOC3, APOA4, APOC2, APOB

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

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of very-low-density lipoprotein particle remodelingGO:01090210.7APOC2, APOA5
2negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.7APOC3, APOA1
3chylomicron remodelingGO:03437110.7APOA4, APOC2, LPL
4triglyceride-rich lipoprotein particle remodelingGO:03437010.7APOC2, APOA5
5negative regulation of lipid metabolic processGO:04583310.7APOC3, APOC2
6chylomicron remnant clearanceGO:03438210.7LIPC, APOC2, APOC3
7positive regulation of fatty acid biosynthetic processGO:04572310.7APOC2, APOA4, APOA5
8lipoprotein transportGO:04295310.7APOB, APOC2, APOC3
9triglyceride metabolic processGO:00664110.7APOA5, APOC3, LPL
10regulation of Cdc42 protein signal transductionGO:03248910.7APOA1, APOC3
11positive regulation of lipoprotein lipase activityGO:05100610.7APOA5, APOA4, APOC2
12positive regulation of triglyceride catabolic processGO:01089810.7PNPLA2, APOC2, APOA4, APOA5
13very-low-density lipoprotein particle remodelingGO:03437210.7APOA4, APOC2, LPL, LIPC
14regulation of intestinal cholesterol absorptionGO:03030010.7APOA1, APOA4
15negative regulation of very-low-density lipoprotein particle clearanceGO:01091610.7APOC3, APOC2
16phospholipid effluxGO:03370010.7APOA1, APOC3, APOA4, APOC2
17triglyceride mobilizationGO:00664210.6APOC3, APOB
18lipoprotein biosynthetic processGO:04215810.6APOA1, APOB
19high-density lipoprotein particle remodelingGO:03437510.6APOA1, APOC3, APOA4, LIPC
20cholesterol effluxGO:03334410.6APOA1, APOC3, APOA4, APOC2, APOB
21reverse cholesterol transportGO:04369110.6APOA1, APOC3, APOA4, APOC2, LIPC
22negative regulation of receptor-mediated endocytosisGO:04826110.6APOC3, APOC2
23retinoid metabolic processGO:00152310.6APOA1, APOC3, APOA4, APOC2, APOB, LPL
24triglyceride homeostasisGO:07032810.6APOA1, APOA5, APOC3, APOC2, LPL, LIPC
25high-density lipoprotein particle clearanceGO:03438410.6APOA1, APOC2
26cholesterol metabolic processGO:00820310.6APOA1, APOC3, APOA4, APOB, LIPC, LIPE
27phototransduction, visible lightGO:00760310.6APOA1, APOC3, APOA4, APOC2, APOB, LPL
28positive regulation of cholesterol esterificationGO:01087310.6APOA4, APOA1
29positive regulation of cholesterol storageGO:01088610.6LPL, APOB
30triglyceride catabolic processGO:01943310.6PNPLA2, APOA5, APOC3, APOB, LPL, LIPC
31lipoprotein metabolic processGO:04215710.6APOA1, APOA5, APOC3, APOA4, APOC2, APOB
32very-low-density lipoprotein particle assemblyGO:03437910.5APOC3, APOB
33cholesterol homeostasisGO:04263210.5APOA1, APOA5, APOC3, APOA4, APOC2, APOB
34unsaturated fatty acid biosynthetic processGO:00663610.4FADS1, FADS3
35low-density lipoprotein particle remodelingGO:03437410.4LIPC, APOB
36lipid homeostasisGO:05508810.4USF1, APOA4
37response to drugGO:04249310.3APOA1, APOC3, APOC2, LPL
38cholesterol transportGO:03030110.3APOB, APOA1
39small molecule metabolic processGO:04428110.3UCP1, APOA1, APOA5, APOC3, APOA4, APOC2
40positive regulation of macrophage derived foam cell differentiationGO:01074410.1LPL, APOB

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particle receptor bindingGO:07065310.6APOA1, APOC3
2lipase inhibitor activityGO:05510210.6APOC2, APOC3, APOA1
3cholesterol transporter activityGO:01712710.6APOA1, APOA4, APOB
4lipoprotein lipase activator activityGO:06023010.6APOA5, APOC2
5triglyceride lipase activityGO:00480610.6PNPLA2, LIPE, LIPC, LPL
6phosphatidylcholine-sterol O-acyltransferase activator activityGO:06022810.5APOA1, APOA4
7phospholipase activityGO:00462010.5LIPC, LPL
8heparin bindingGO:00820110.5LIPC, LPL, APOB, APOA5
9phosphatidylcholine bindingGO:03121010.4APOA4, APOA5
10enzyme bindingGO:01989910.4APOA1, APOA5, APOB, USF1
11low-density lipoprotein particle receptor bindingGO:05075010.4APOA5, APOB
12lipid bindingGO:00828910.3APOC2, APOA4, APOA5
13phospholipid bindingGO:00554310.2APOB, APOC3, APOA5, APOA1
14apolipoprotein bindingGO:03418510.1LPL, LIPC

Products for genes affiliated with Familial Combined Hyperlipidemia

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Sources for Familial Combined Hyperlipidemia

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