MCID: FML020
MIFTS: 66

Familial Combined Hyperlipidemia malady

Genetic diseases (common), Metabolic diseases categories
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Summaries for Familial Combined Hyperlipidemia

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MalaCards based summary: Familial Combined Hyperlipidemia, also known as hyperlipidemia, familial combined, susceptibility to, is related to familial hypertriglyceridemia and familial hypercholesterolemia, and has symptoms including An important gene associated with Familial Combined Hyperlipidemia is USF1 (upstream transcription factor 1), and among its related pathways are Folate Metabolism and Vitamin digestion and absorption. The compounds xbai and fenofibric acid 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.

Descriptions from OMIM:46 144250,602491

Aliases & Classifications for Familial Combined Hyperlipidemia

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Sources:
8Disease Ontology, 10DISEASES, 62UMLS, 44Novoseek, 9diseasecard, 46OMIM, 22GTR, 57SNOMED-CT, 27ICD9CM, 39NCIt, 34MeSH, 25ICD10
See all sources

Familial Combined Hyperlipidemia, Aliases & Descriptions:

Name: Familial Combined Hyperlipidemia 8 10
Hyperlipidemia, Familial Combined, Susceptibility to 9 22
Hyperbetalipoproteinemia with Prebetalipoproteinemia 8 62
Combined Hyperlipidemia, Familial 9 46
Hyperlipidemia, Familial Combined 46 62
Mixed Hyperlipidemia 8 44
 
Familial Multiple Lipoprotein-Type Hyperlipidaemia 62
Familial Multiple Lipoprotein-Type Hyperlipidemia 8
Hyperlipidemia Familial Combined 44
Type Iib Hyperlipoproteinemia 8
Hyperlipoproteinemia Type Iib 62
Mixed Hyperlipidaemia 8


Classifications:



External Ids:

Disease Ontology8 DOID:13809
ICD9CM27 272.2
OMIM46 144250
NCIt39 C34821
MeSH34 D006950
ICD1025 E78.2

Related Diseases for Familial Combined Hyperlipidemia

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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 67)
idRelated DiseaseScoreTop Affiliating Genes
1familial hypertriglyceridemia31.1LPL, APOB, APOC3, USF1
2familial hypercholesterolemia31.1APOA4, APOA1, APOB, LPL
3hypertension30.5INS, APOA1, APOB, LPL
4hyperlipidemia type 330.4LPL, APOB, APOA1
5hyperalphalipoproteinemia30.3APOA1, APOC3, APOA2, APOB
6hyperlipoproteinemia type v30.2LPL, APOC2
7pancreatitis30.1INS, APOC2, LPL
8hypercholesterolemia29.7LPL, FABP2, APOB, APOC2, APOA2, APOC3
9fatty liver disease29.7INS, APOA1, APOC3, APOB, FABP2, LPL
10hypertriglyceridemia29.6APOA4, INS, APOA1, APOC3, APOA2, LPL
11insulin resistance29.4APOA1, APOA4, INS, APOC3, APOA2, LPL
12obesity28.8INS, USF1, APOA4, LPL, APOA1, APOC3
13type 2 diabetes mellitus28.5LPL, FABP2, LIPE, APOB, APOC2, APOA2
14diabetes mellitus28.3LPL, FABP4, FABP2, LIPE, APOB, APOC2
15atherosclerosis28.2LPL, FABP4, FABP2, LIPE, APOB, APOC2
16hepatitis10.5
17artery disease10.5
18endotheliitis10.5
19chylomicron retention disease10.5APOB
20arcus senilis10.3APOA1, APOB
21acute pancreatitis10.3
22recurrent acute pancreatitis10.3
23fish-eye disease10.3APOA1, APOA2
24morbid obesity10.2INS
25xanthomatosis10.2APOB, LPL
26complete lcat deficiency10.2APOA1, APOA2
27amyloidosis, renal10.2APOA2, APOA1
28hypobetalipoproteinemia10.2APOA1, APOB
29abetalipoproteinemia10.2APOA1, APOB, LPL
30liver disease10.2
31panhypopituitarism10.2
32otosclerosis10.2
33retinitis10.2
34hyperapobetalipoproteinemia10.2
35blindness10.2
36arteriosclerosis10.1APOA1, APOB, LPL
37hypopituitarism10.1
38hyperinsulinism10.1INS, APOB, LPL
39metabolic syndrome x10.1INS, LPL
40hepatoblastoma10.1APOB, APOA2, APOA1
41nephrotic syndrome10.1APOA1, APOB, LPL
42amyloidosis10.1APOA1, APOA2, LPL
43hyperuricemia10.1FABP2, APOB, INS
44peripheral vascular disease10.1APOB, APOA1
45primary hyperoxaluria10.1LPL, APOB, APOA1
46coronary artery anomaly10.1LPL, APOB, APOA1
47stroke, ischemic10.0INS, APOA1, APOB
48norum disease10.0LPL, APOB, APOA2, APOA1
49coronary stenosis10.0APOA1, APOB
50cerebrovascular disease10.0LPL, FABP2, APOB, APOA1

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



Diseases related to familial combined hyperlipidemia

Symptoms for Familial Combined Hyperlipidemia

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Symptoms by clinical synopsis from OMIM:

144250

Clinical features from OMIM:

144250,602491

HPO human phenotypes related to Familial Combined Hyperlipidemia:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 xanthelasma HP:0001114
3 myocardial infarction HP:0001658
4 combined hyperlipidemia HP:0008356

Drugs & Therapeutics for Familial Combined Hyperlipidemia

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Drug clinical trials:

Search ClinicalTrials for Familial Combined Hyperlipidemia

Search NIH Clinical Center for Familial Combined Hyperlipidemia

Genetic Tests for Familial Combined Hyperlipidemia

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Genetic tests related to Familial Combined Hyperlipidemia:

id Genetic test Affiliating Genes
1 Hyperlipidemia, Familial Combined22

Anatomical Context for Familial Combined Hyperlipidemia

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MalaCards organs/tissues related to Familial Combined Hyperlipidemia:

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

Animal Models for Familial Combined Hyperlipidemia or affiliated genes

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MGI Mouse Phenotypes related to Familial Combined Hyperlipidemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053757.7INS, APOC3, LIPE, FABP2, FABP4, LPL
2MP:00053707.3INS, APOA1, APOB, LIPE, FABP2, FABP4
3MP:00053787.1APOC3, APOA2, APOB, LIPE, FABP2, FABP4
4MP:00053856.8INS, APOA4, APOA1, APOC3, APOB, LIPE
5MP:00053766.4LPL, INS, APOA4, APOA1, APOC3, APOA2

Publications for Familial Combined Hyperlipidemia

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Articles related to Familial Combined Hyperlipidemia:

(show top 50)    (show all 270)
idTitleAuthorsYear
1
Plasma proprotein convertase subtilisin kexin type 9 levels are related to markers of cholesterol synthesis in familial combined hyperlipidemia. (23333725)
2013
2
Unilateral retinal emboli in a patient with familial combined hyperlipidemia. (20408099)
2010
3
Increased arterial stiffness in familial combined hyperlipidemia. (19402225)
2009
4
New technologies for delineating and characterizing the lipid exome: prospects for understanding familial combined hyperlipidemia. (19023136)
2009
5
Small dense low-density lipoprotein in familial combined hyperlipidemia: Independent of metabolic syndrome and related to history of cardiovascular events. (18760784)
2009
6
Small and dense LDL in familial combined hyperlipidemia and N291S polymorphism of the lipoprotein lipase gene. (19335919)
2009
7
Metabolic syndrome prevalence and characteristics in Greek adults with familial combined hyperlipidemia. (17161236)
2007
8
Apolipoprotein E polymorphism influences lipid phenotypes in Chinese families with familial combined hyperlipidemia. (17127808)
2006
9
Effect of statins on LDL particle size in patients with familial combined hyperlipidemia: a comparison between atorvastatin and pravastatin. (15871851)
2005
10
Circulating oxidized low-density lipoprotein and its association with carotid intima-media thickness in asymptomatic members of familial combined hyperlipidemia families. (15205217)
2004
11
Low-density lipoprotein particle size loci in familial combined hyperlipidemia: evidence for multiple loci from a genome scan. (15331429)
2004
12
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
13
Detection of early atherosclerosis using the ultrasound parameter of the intima-media thickness of the common carotid artery in families with familial combined hyperlipidemia. (15765037)
2004
14
Diagnosing familial combined hyperlipidemia. (15210617)
2004
15
Increased circulating malondialdehyde-modified LDL in the patients with familial combined hyperlipidemia and its relation with the hepatic lipase activity. (14709374)
2004
16
Biochemical and genetic association of plasma apolipoprotein A-II levels with familial combined hyperlipidemia. (12738753)
2003
17
Variants in the PPARgamma gene affect fatty acid and glycerol metabolism in familial combined hyperlipidemia. (14680975)
2003
18
Plasma homocysteine in subjects with familial combined hyperlipidemia. (12482557)
2003
19
LDL particle size in familial combined hyperlipidemia: effects of serum lipids, lipoprotein-modifying enzymes, and lipid transfer proteins. (11907142)
2002
20
Identification of differentially expressed genes in subcutaneous adipose tissue from subjects with familial combined hyperlipidemia. (12032168)
2002
21
C3, hormone-sensitive lipase, and peroxisome proliferator-activated receptor gamma expression in adipose tissue of familial combined hyperlipidemia patients. (11979403)
2002
22
Postprandial changes of apoB-100 and apoB-48 in TG rich lipoproteins in familial combined hyperlipidemia. (11861669)
2002
23
Common variants in the lipoprotein lipase gene, but not those in the insulin receptor substrate-1, the beta3-adrenergic receptor, and the intestinal fatty acid binding protein-2 genes, influence the lipid phenotypic expression in familial combined hyperlipidemia. (12370850)
2002
24
Two polymorphisms in the apo A-IV gene and familial combined hyperlipidemia. (11583715)
2001
25
Serum C3 but not plasma acylation-stimulating protein is elevated in Finnish patients with familial combined hyperlipidemia. (11348883)
2001
26
In vivo evidence of defective postprandial and postabsorptive free fatty acid metabolism in familial combined hyperlipidemia. (10884291)
2000
27
Expression of human apolipoprotein A-II in apolipoprotein E-deficient mice induces features of familial combined hyperlipidemia. (10946021)
2000
28
The V73M mutation in the hepatic lipase gene is associated with elevated cholesterol levels in four Dutch pedigrees with familial combined hyperlipidemia. (10924721)
2000
29
G-250A substitution in promoter of hepatic lipase gene is associated with dyslipidemia and insulin resistance in healthy control subjects and in members of families with familial combined hyperlipidemia. (10894818)
2000
30
Omacor in familial combined hyperlipidemia: effects on lipids and low density lipoprotein subclasses. (10657575)
2000
31
Lipoprotein (a) concentrations in patients with familial combined hyperlipidemia and hypertension. (10431554)
1999
32
Mutations of the human hepatic lipase gene in patients with combined hypertriglyceridemia/hyperalphalipoproteinemia and in patients with familial combined hyperlipidemia. (10606208)
1999
33
Vitamin A is linked to the expression of the AI-CIII-AIV gene cluster in familial combined hyperlipidemia. (10064730)
1999
34
Role of 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors ("statins") in familial combined hyperlipidemia. (9526813)
1998
35
Families with familial combined hyperlipidemia and families enriched for coronary artery disease share genetic determinants for the atherogenic lipoprotein phenotype. (9683614)
1998
36
A common genetic mechanism determines plasma apolipoprotein B levels and dense LDL subfraction distribution in familial combined hyperlipidemia. (9683593)
1998
37
Impaired insulin-stimulated glucose oxidation and free fatty acid suppression in patients with familial combined hyperlipidemia: a precursor defect for dyslipidemia? (9763525)
1998
38
Serum complement and familial combined hyperlipidemia. (9105570)
1997
39
Safety and efficacy of long-term statin-fibrate combinations in patients with refractory familial combined hyperlipidemia. (9294990)
1997
40
No evidence of linkage between familial combined hyperlipidemia and genes encoding lipolytic enzymes in Finnish families. (9157946)
1997
41
Nonobese patients with familial combined hyperlipidemia are insulin resistant compared with their nonaffected relatives. (9261281)
1997
42
Apolipoprotein A-I/C-III/A-IV gene cluster in familial combined hyperlipidemia: effects on LDL-cholesterol and apolipoproteins B and C-III. (8820109)
1996
43
Two novel apolipoprotein A-IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activity. (8956036)
1996
44
Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia. (8049185)
1994
45
Lipoprotein(a) plasma concentrations associated with lipolytic activities in eight kindreds with familial combined hyperlipidemia and normolipidemic subjects. (8510521)
1993
46
A case of glomerular lipidosis accompanied by familial combined hyperlipidemia and panhypopituitarism. (1568042)
1992
47
Low-density lipoprotein subclass phenotypes and familial combined hyperlipidemia. (1817002)
1991
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
Familial combined hyperlipidemia. Part II. Clinical picture. (2946184)
1986
50
A study of familial combined hyperlipidemia in 11 families. (6671713)
1983

Variations for Familial Combined Hyperlipidemia

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Clinvar genetic disease variations for Familial Combined Hyperlipidemia:

6
id Gene Name Type Significance SNP ID Assembly Location
1LPLLPL, -39T-Csingle nucleotide variantPathogenic
2LPLNM_000237.2(LPL): c.953A> G (p.Asn318Ser)single nucleotide variantPathogenicrs268GRCh37Chr 8, 19813529: 19813529
3LPLNM_000237.2(LPL): c.106G> A (p.Asp36Asn)single nucleotide variantPathogenicrs1801177GRCh37Chr 8, 19805708: 19805708
4LPLLPL, -93T-Gsingle nucleotide variantPathogenic

Expression for genes affiliated with Familial Combined Hyperlipidemia

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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

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

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Vitamin B12 Metabolism37
9.5APOA1, INS
29.4APOB, APOA1, APOA4
39.3APOA4, APOA1, APOA2
4
Show member pathways
thioredoxin pathway37
9.2INS, APOA1, APOB
59.0LPL, LIPE, INS
6
Show member pathways
8.9APOA4, APOA1, APOB, FABP2
7
Show member pathways
8.8LPL, FABP4, APOA2, APOA1
88.8FABP4, LIPE, INS
98.8INS, APOA1, APOA2, APOB
10
Show member pathways
fatty acid beta-oxidation VI (peroxisome)37
8.1APOA1, APOC3, APOA2, FABP2, FABP4, LPL
11
Show member pathways
7.6APOA4, APOA1, APOC3, APOA2, APOC2, APOB
12
Show member pathways
7.6APOA4, APOA1, APOC3, APOA2, APOC2, APOB
13
Show member pathways
7.1INS, APOA4, APOA1, APOC3, APOA2, APOC2
147.1INS, APOA4, APOA1, APOC3, APOA2, APOC2
15
Show member pathways
6.4LPL, APOA4, APOA1, FABP4, LIPE, APOB
16
Show member pathways
5.9INS, APOA4, APOA1, APOC3, APOA2, APOC2

Compounds for genes affiliated with Familial Combined Hyperlipidemia

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

(show top 50)    (show all 395)
idCompoundScoreTop Affiliating Genes
1xbai449.6APOC3, APOB, APOA4, LPL
2fenofibric acid44 2810.5LPL, APOB, APOA1, APOC3
3ciprofibrate44 2810.5APOA1, LPL, APOB
4retinyl palmitate44 2410.5LPL, APOA4, APOB, APOA1
5taurocholate449.5APOA1, APOB, LPL, APOC3
6desogestrel44 1110.4APOA1, INS, APOB
7fructosamine44 2410.4APOA1, APOB, INS
8ritonavir44 50 1111.3INS, APOA4, APOC3, LPL
9trioleoylglycerol449.3APOC2, APOA1, LPL
10pravastatin44 50 28 24 1113.2APOA1, LPL, APOB, APOC3
11rosuvastatin44 50 28 1112.2APOA1, INS, APOB, APOC3
12metformin44 50 1111.2LPL, INS, APOA1, APOB
13mspi449.1APOA4, APOA1, APOC3, APOB, APOA2
14lovastatin44 50 61 28 1113.0APOA1, LPL, APOB, APOC3
15dimyristoylphosphatidylcholine449.0APOA4, APOA1, APOA2
16atorvastatin44 50 28 24 1112.9LPL, APOB, APOC3, APOA1, FABP4
17acipimox44 289.9LIPE, APOA1, APOB, INS
18stearic acid44 24 1110.9LPL, LIPE, FABP2, FABP4
19palmitic acid28 24 1110.9LIPE, FABP2, FABP4, LPL
20myristic acid44 24 1110.8INS, LIPE, FABP2, LPL
21uric acid44 249.8INS, FABP4, APOB, APOA1
22pioglitazone28 44 50 1111.8APOA1, INS, FABP4, APOB, LPL
23acyl-coa448.7APOC3, LIPE, FABP4, LPL
24niacin44 119.7LPL, LIPE, APOB, APOA1, INS
25pyruvate448.7USF1, APOC3, LIPE, FABP2, FABP4
26bezafibrate44 28 1110.6APOA1, LPL, APOB, APOA2, APOC3, INS
27carnitine448.6APOA1, INS, LPL, APOB, LIPE
28sterol448.6USF1, FABP4, APOB, APOA1, LIPE
29homocysteine44 249.6APOB, APOA1, APOC3, APOC2
30fibrinogen448.5APOC3, APOA4, APOA1, APOA2, INS, APOB
31phosphatidylcholine448.5APOA1, APOA2, APOB, LPL, APOA4, LIPE
32oleic acid44 28 24 1111.4APOB, APOA4, LPL, FABP4, LIPE, FABP2
33palmitate448.4LPL, INS, APOA1, APOB, FABP2, FABP4
34heparin44 28 24 1111.3APOA4, APOC3, APOC2, LPL, APOB, APOA2
35rosiglitazone28 44 50 24 1112.3APOB, FABP4, LPL, LIPE, INS, APOC3
36intralipid448.3LPL, APOB, APOA2, APOC3, APOA1, APOA4
37fenofibrate44 50 1110.2APOA1, INS, APOC3, APOA2, APOB, LPL
38testosterone44 61 24 1111.2LIPE, APOC3, APOB, APOA1, LPL, INS
39vitamin a44 24 1110.0LPL, APOA1, APOB, FABP2, APOC2, APOC3
40gemfibrozil28 44 119.8LPL, APOB, APOC2, APOA2, APOC3, APOA1
41estrogen447.7APOB, LIPE, APOC3, USF1, LPL, INS
42cholesterol ester447.7APOB, LPL, FABP4, LIPE, APOA2, APOC3
43creatinine447.2APOB, FABP2, APOC2, APOA1, APOA4, INS
44serine447.0APOA2, APOA1, APOA4, INS, APOB, APOC3
45phospholipid446.5APOA1, APOA4, APOC3, APOA2, APOC2, LPL
46triacylglycerol446.5LPL, FABP2, LIPE, APOB, APOC2, APOA2
47fatty acid446.1LPL, FABP4, FABP2, LIPE, APOB, APOC2
48cholesterol44 28 24 118.7LPL, FABP2, LIPE, APOB, APOC2, APOA2
49glucose445.7INS, LPL, FABP4, FABP2, LIPE, APOB
50lipid445.7APOA4, USF1, INS, APOA1, APOC3, APOA2

GO Terms for genes affiliated with Familial Combined Hyperlipidemia

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1endosome lumenGO:0319049.7APOB, INS
2endocytic vesicle lumenGO:0716829.7APOB, APOA1
3secretory granule lumenGO:0347749.5INS, APOA1
4high-density lipoprotein particleGO:0343649.4APOA2, APOA1, APOA4
5intermediate-density lipoprotein particleGO:0343639.3APOB, APOC2, APOC3
6blood microparticleGO:0725629.2APOA2, APOA1, APOA4
7low-density lipoprotein particleGO:0343629.0APOB, APOC2
8spherical high-density lipoprotein particleGO:0343668.8APOA1, APOC3, APOA2, APOC2
9endoplasmic reticulum lumenGO:0057888.7INS, APOA4, APOA1, APOA2, APOB
10chylomicronGO:0426278.3APOA4, APOC3, APOA2, APOC2, APOB, LPL
11early endosomeGO:0057698.1APOA4, APOA1, APOC3, APOA2, APOC2, APOB
12very-low-density lipoprotein particleGO:0343617.9LPL, APOA4, APOA1, APOC3, APOA2, APOC2
13extracellular spaceGO:0056157.6INS, APOA4, APOA1, APOC3, APOC2, APOB
14extracellular regionGO:0055767.2INS, APOA4, APOA1, APOC3, APOA2, APOC2

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

(show all 48)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cholesterol importGO:06062110.2APOC3, APOA2
2triglyceride mobilizationGO:00664210.1APOC3, APOB
3positive regulation of cholesterol storageGO:01088610.1APOB, LPL
4regulation of Cdc42 protein signal transductionGO:03248910.1APOA1, APOC3
5very-low-density lipoprotein particle assemblyGO:03437910.0APOB, APOC3
6lipoprotein biosynthetic processGO:04215810.0APOA1, APOB
7negative regulation of lipase activityGO:06019210.0APOA1, APOA2
8high-density lipoprotein particle assemblyGO:03438010.0APOA1, APOA2
9protein oxidationGO:0181589.9APOA1, APOA2
10negative regulation of cytokine secretion involved in immune responseGO:0027409.9APOA1, APOA2
11triglyceride metabolic processGO:0066419.9LPL, APOA2, APOC3
12peptidyl-methionine modificationGO:0182069.9APOA1, APOA2
13low-density lipoprotein particle remodelingGO:0343749.8APOB, APOA2
14diacylglycerol catabolic processGO:0463409.8APOA2, LIPE
15positive regulation of macrophage derived foam cell differentiationGO:0107449.8APOB, LPL
16negative regulation of very-low-density lipoprotein particle remodelingGO:0109039.8APOA1, APOC3, APOA2
17regulation of intestinal cholesterol absorptionGO:0303009.7APOA2, APOA1, APOA4
18negative regulation of lipid metabolic processGO:0458339.7APOC3, APOC2
19cholesterol transportGO:0303019.7APOB, APOA1
20positive regulation of cholesterol esterificationGO:0108739.7APOA4, APOA1, APOA2
21negative regulation of very-low-density lipoprotein particle clearanceGO:0109169.7APOC3, APOC2
22negative regulation of lipid catabolic processGO:0509959.7INS, APOC3, APOA2
23phosphatidylcholine biosynthetic processGO:0066569.6APOA2, APOA1
24triglyceride-rich lipoprotein particle remodelingGO:0343709.6APOA2, APOC2
25negative regulation of receptor-mediated endocytosisGO:0482619.6APOC3, APOC2
26negative regulation of cholesterol transportGO:0323759.6APOA2, APOC2
27chylomicron remnant clearanceGO:0343829.6APOC3, APOC2
28lipid homeostasisGO:0550889.6APOA4, USF1
29positive regulation of triglyceride catabolic processGO:0108989.5APOA4, APOC2
30positive regulation of fatty acid biosynthetic processGO:0457239.5APOC2, APOA4
31chylomicron remodelingGO:0343719.4APOA4, APOC2, LPL
32very-low-density lipoprotein particle remodelingGO:0343729.4APOA4, APOC2, LPL
33positive regulation of lipoprotein lipase activityGO:0510069.4APOA4, APOC2
34high-density lipoprotein particle remodelingGO:0343759.4APOA4, APOA1, APOC3, APOA2
35lipoprotein transportGO:0429539.4APOC3, APOC2, APOB
36high-density lipoprotein particle clearanceGO:0343849.2APOA1, APOA2, APOC2
37triglyceride homeostasisGO:0703289.0LPL, APOC2, APOC3, APOA1
38triglyceride catabolic processGO:0194338.9APOC3, APOB, LIPE, FABP4, LPL
39response to drugGO:0424938.6APOA1, APOC3, APOA2, APOC2, LPL
40phospholipid effluxGO:0337008.6APOA4, APOA1, APOC3, APOA2, APOC2
41reverse cholesterol transportGO:0436918.6APOA4, APOA1, APOC3, APOA2, APOC2
42cholesterol metabolic processGO:0082038.5APOA4, APOA1, APOC3, APOA2, APOB, LIPE
43cholesterol effluxGO:0333448.3APOB, APOC2, APOA2, APOC3, APOA1, APOA4
44retinoid metabolic processGO:0015238.0LPL, APOB, APOC2, APOA2, APOC3, APOA1
45lipoprotein metabolic processGO:0421578.0APOA4, LPL, APOB, APOC2, APOA2, APOC3
46phototransduction, visible lightGO:0076038.0APOA4, APOA1, APOC3, APOA2, APOC2, APOB
47cholesterol homeostasisGO:0426327.8APOB, APOC2, APOA2, APOC3, APOA1, APOA4
48small molecule metabolic processGO:0442816.3INS, APOA4, APOA1, APOC3, APOA2, APOC2

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylcholine bindingGO:0312109.8APOA2, APOA4
2apolipoprotein receptor bindingGO:0341909.8APOA2, APOA1
3high-density lipoprotein particle bindingGO:0080359.8APOA2, APOA1
4lipid transporter activityGO:0053199.8APOA4, APOA2
5high-density lipoprotein particle receptor bindingGO:0706539.6APOA1, APOC3, APOA2
6cholesterol bindingGO:0154859.5APOA1, APOC3, APOA2
7phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.5APOA2, APOA1, APOA4
8triglyceride lipase activityGO:0048069.5LPL, LIPE
9cholesterol transporter activityGO:0171279.2APOB, APOA2, APOA1, APOA4
10phospholipid bindingGO:0055439.2APOB, APOA2, APOC3, APOA1
11fatty acid bindingGO:0055049.2FABP4, FABP2
12lipid bindingGO:0082899.0APOA4, APOA2, APOC2
13lipase inhibitor activityGO:0551028.8APOC2, APOA2, APOC3, APOA1
14protein homodimerization activityGO:0428038.7APOC2, APOA2, APOA4, USF1

Products for genes affiliated with Familial Combined Hyperlipidemia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Familial Combined 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet