MCID: FML020
MIFTS: 63

Familial Combined Hyperlipidemia malady

Genetic diseases (common) category

Summaries for Familial Combined Hyperlipidemia

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48OMIM, 34MalaCards
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MalaCards: Familial Combined Hyperlipidemia, also known as hyperlipidemia, familial combined, susceptibility to, is related to familial hypertriglyceridemia and familial hypercholesterolemia. 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.

Description from OMIM:48 144250,602491

Aliases & Classifications for Familial Combined Hyperlipidemia

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Sources:
9Disease Ontology, 10diseasecard, 23GTR, 48OMIM, 11DISEASES, 46Novoseek, 63UMLS, 36MeSH, 41NCIt, 59SNOMED-CT, 28ICD9CM, 26ICD10
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Classifications:

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


Aliases & Descriptions:

familial combined hyperlipidemia 9 11
hyperlipidemia, familial combined, susceptibility to 10 23
combined hyperlipidemia, familial 10 48
hyperlipidemia, familial combined 48 63
mixed hyperlipidemia 9 46
hyperbetalipoproteinemia with prebetalipoproteinemia 9
familial multiple lipoprotein-type hyperlipidemia 9
hyperlipidemia familial combined 46
type iib hyperlipoproteinemia 9
hyperlipoproteinemia type iib 63
mixed hyperlipidaemia 9


External Ids:

Disease Ontology9 DOID:13809
MeSH36 D006950
NCIt41 C34821
ICD9CM28 272.2
OMIM48 144250
ICD1026 E78.2

Related Diseases for Familial Combined Hyperlipidemia

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18GeneCards, 19GeneDecks
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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 hypertriglyceridemia30.9LPL, APOB, APOC3, USF1
2familial hypercholesterolemia30.9APOA4, APOA1, APOB, LPL
3coronary artery disease30.8LPL, APOB, APOA1
4insulin resistance30.7APOA1, APOA4, INS, APOC3, APOA2, LPL
5hypertriglyceridemia30.6APOA4, INS, APOA1, APOC3, APOA2, LPL
6hypercholesterolemia30.6LPL, FABP2, APOB, APOC2, APOA2, APOC3
7hypertension30.5INS, APOA1, APOB, LPL
8pancreatitis30.3INS, APOC2, LPL
9hyperlipidemia type 330.2LPL, APOB, APOA1
10hyperalphalipoproteinemia30.2APOA1, APOC3, APOA2, APOB
11obesity30.2INS, USF1, APOA4, LPL, APOA1, APOC3
12hyperlipoproteinemia type v30.1LPL, APOC2
13fatty liver disease30.1INS, APOA1, APOC3, APOB, FABP2, LPL
14type 2 diabetes mellitus30.1LPL, FABP2, LIPE, APOB, APOC2, APOA2
15diabetes mellitus30.0LPL, FABP4, FABP2, LIPE, APOB, APOC2
16atherosclerosis30.0LPL, FABP4, FABP2, LIPE, APOB, APOC2
17artery disease10.5
18hepatitis10.5
19endotheliitis10.5
20acute pancreatitis10.2
21recurrent acute pancreatitis10.2
22panhypopituitarism10.1
23otosclerosis10.1
24liver disease10.1
25retinitis10.1
26hyperapobetalipoproteinemia10.1
27blindness10.1
28hypopituitarism10.1
29chylomicron retention disease10.1APOB
30arcus senilis10.1APOA1, APOB
31fish-eye disease10.1APOA1, APOA2
32morbid obesity10.1INS
33xanthomatosis10.1APOB, LPL
34complete lcat deficiency10.1APOA1, APOA2
35amyloidosis, renal10.0APOA2, APOA1
36hypobetalipoproteinemia10.0APOA1, APOB
37abetalipoproteinemia10.0APOA1, APOB, LPL
38arteriosclerosis10.0APOA1, APOB, LPL
39hyperinsulinism10.0INS, APOB, LPL
40metabolic syndrome x10.0INS, LPL
41hepatoblastoma10.0APOB, APOA2, APOA1
42nephrotic syndrome10.0APOA1, APOB, LPL
43amyloidosis10.0APOA1, APOA2, LPL
44hyperuricemia10.0FABP2, APOB, INS
45peripheral vascular disease10.0APOB, APOA1
46primary hyperoxaluria10.0LPL, 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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48OMIM
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Symptoms by clinical synopsis from OMIM:

144250

Clinical features from OMIM:

144250,602491

Drugs & Therapeutics for Familial Combined Hyperlipidemia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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

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23GTR
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Genetic tests related to Familial Combined Hyperlipidemia:

id Genetic test Affiliating Genes
1 Hyperlipidemia, Familial Combined23

Anatomical Context for Familial Combined Hyperlipidemia

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34MalaCards
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MalaCards organs/tissues related to Familial Combined Hyperlipidemia:

34
Heart, Endothelial, Liver, Adipocyte, Lung, Skin, Monocytes, T cells

Animal Models for Familial Combined Hyperlipidemia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Familial Combined Hyperlipidemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053757.7FABP2, FABP4, LPL, APOC3, INS, LIPE
2MP:00053707.3LPL, FABP4, FABP2, LIPE, INS, APOB
3MP:00053787.1APOC3, APOA2, APOB, LIPE, FABP2, FABP4
4MP:00053856.8APOA1, APOC3, APOB, LIPE, FABP4, APOA4
5MP:00053766.4LIPE, FABP4, FABP2, APOB, APOA2, APOC3

Publications for Familial Combined Hyperlipidemia

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53PubMed
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Articles related to Familial Combined Hyperlipidemia:

(show top 50)    (show all 263)
idTitleAuthorsYear
1
Impact of cardiometabolic risk factors on major cardiovascular events in patients with familial combined hyperlipidemia. (23018766)
2013
2
Plasma proprotein convertase subtilisin kexin type 9 levels are related to markers of cholesterol synthesis in familial combined hyperlipidemia. (23333725)
2013
3
Unilateral retinal emboli in a patient with familial combined hyperlipidemia. (20408099)
2010
4
Increased arterial stiffness in familial combined hyperlipidemia. (19402225)
2009
5
New technologies for delineating and characterizing the lipid exome: prospects for understanding familial combined hyperlipidemia. (19023136)
2009
6
Small dense low-density lipoprotein in familial combined hyperlipidemia: Independent of metabolic syndrome and related to history of cardiovascular events. (18760784)
2009
7
Small and dense LDL in familial combined hyperlipidemia and N291S polymorphism of the lipoprotein lipase gene. (19335919)
2009
8
Metabolic syndrome prevalence and characteristics in Greek adults with familial combined hyperlipidemia. (17161236)
2007
9
Apolipoprotein E polymorphism influences lipid phenotypes in Chinese families with familial combined hyperlipidemia. (17127808)
2006
10
Effect of statins on LDL particle size in patients with familial combined hyperlipidemia: a comparison between atorvastatin and pravastatin. (15871851)
2005
11
Circulating oxidized low-density lipoprotein and its association with carotid intima-media thickness in asymptomatic members of familial combined hyperlipidemia families. (15205217)
2004
12
Low-density lipoprotein particle size loci in familial combined hyperlipidemia: evidence for multiple loci from a genome scan. (15331429)
2004
13
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
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Familial Combined Hyperlipidemia:

1
id Gene Name Type Significance SNP ID Assembly Location
1LPLNM_000237.2(LPL): c.953A> G (p.Asn318Ser)single nucleotide variantPathogenicrs268GRCh37Chr 8, 19813529: 19813529
2LPLNM_000237.2(LPL): c.106G> A (p.Asp36Asn)single nucleotide variantPathogenicrs1801177GRCh37Chr 8, 19805708: 19805708

Expression for genes affiliated with Familial Combined Hyperlipidemia

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2BioGPS, 16Gene 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

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Sources:
51PathCards, 39NCBI BioSystems Database, 31KEGG, 61Thomson Reuters, 56Reactome, 5Cell Signaling Technology, 13EMD Millipore, 52PharmGKB
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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 Metabolism39
9.5INS, APOA1
29.4APOB, APOA1, APOA4
39.3APOA1, APOA2, APOA4
4
Show member pathways
thioredoxin pathway39
9.2APOA1, APOB, INS
59.0LPL, LIPE, INS
6
Show member pathways
8.9APOA4, FABP2, APOA1, APOB
7
Show member pathways
8.8APOA2, FABP4, LPL, APOA1
88.8FABP4, LIPE, INS
98.8APOB, APOA1, INS, APOA2
10
Show member pathways
fatty acid beta-oxidation VI (peroxisome)39
8.1LPL, FABP2, APOA2, APOC3, APOA1, FABP4
11
Show member pathways
7.6APOA1, APOC3, APOA4, APOA2, LPL, APOC2
12
Show member pathways
7.6LPL, APOA4, APOC2, APOA1, APOC3, APOA2
13
Show member pathways
7.1APOA4, APOA1, APOC2, LPL, APOB, APOA2
147.1APOC2, INS, APOA4, APOC3, APOA2, APOB
15
Show member pathways
6.4APOC2, APOA1, APOA4, APOC3, APOA2, APOB
16
Show member pathways
5.9LIPE, INS, FABP4, APOA4, APOA1, APOC3

Compounds for genes affiliated with Familial Combined Hyperlipidemia

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Sources:
46Novoseek, 30IUPHAR, 25HMDB, 12DrugBank, 52PharmGKB, 62Tocris Bioscience
See all sources

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

(show top 50)    (show all 395)
idCompoundScoreTop Affiliating Genes
1xbai469.6APOC3, APOB, APOA4, LPL
2fenofibric acid46 3010.5LPL, APOB, APOA1, APOC3
3ciprofibrate46 3010.5APOA1, LPL, APOB
4retinyl palmitate46 2510.5LPL, APOA4, APOB, APOA1
5taurocholate469.5APOA1, APOB, LPL, APOC3
6desogestrel46 1210.4APOA1, INS, APOB
7fructosamine46 2510.4APOA1, APOB, INS
8ritonavir46 52 1211.3INS, APOA4, APOC3, LPL
9trioleoylglycerol469.3APOC2, APOA1, LPL
10pravastatin46 52 30 25 1213.2APOA1, LPL, APOB, APOC3
11rosuvastatin46 52 30 1212.2APOA1, INS, APOB, APOC3
12metformin46 52 1211.2LPL, INS, APOA1, APOB
13mspi469.1APOA4, APOA1, APOC3, APOB, APOA2
14lovastatin46 52 62 30 1213.0APOA1, LPL, APOB, APOC3
15dimyristoylphosphatidylcholine469.0APOA4, APOA1, APOA2
16atorvastatin46 52 30 25 1212.9LPL, APOB, APOC3, APOA1, FABP4
17acipimox46 309.9LIPE, APOA1, APOB, INS
18stearic acid46 25 1210.9LPL, LIPE, FABP2, FABP4
19palmitic acid30 25 1210.9LIPE, FABP2, FABP4, LPL
20myristic acid46 25 1210.8INS, LIPE, FABP2, LPL
21uric acid46 259.8INS, FABP4, APOB, APOA1
22pioglitazone30 46 52 1211.8APOA1, INS, FABP4, APOB, LPL
23acyl-coa468.7APOC3, LIPE, FABP4, LPL
24niacin46 129.7LPL, LIPE, APOB, APOA1, INS
25pyruvate468.7USF1, APOC3, LIPE, FABP2, FABP4
26bezafibrate46 30 1210.6APOA1, LPL, APOB, APOA2, APOC3, INS
27carnitine468.6APOA1, INS, LPL, APOB, LIPE
28sterol468.6USF1, FABP4, APOB, APOA1, LIPE
29homocysteine46 259.6APOB, APOA1, APOC3, APOC2
30fibrinogen468.5APOC3, APOA4, APOA1, APOA2, INS, APOB
31phosphatidylcholine468.5APOA1, APOA2, APOB, LPL, APOA4, LIPE
32oleic acid46 30 25 1211.4APOB, APOA4, LPL, FABP4, LIPE, FABP2
33palmitate468.4LPL, INS, APOA1, APOB, FABP2, FABP4
34heparin46 30 25 1211.3APOA4, APOC3, APOC2, LPL, APOB, APOA2
35rosiglitazone30 46 52 25 1212.3APOB, FABP4, LPL, LIPE, INS, APOC3
36intralipid468.3LPL, APOB, APOA2, APOC3, APOA1, APOA4
37fenofibrate46 52 1210.2APOA1, INS, APOC3, APOA2, APOB, LPL
38testosterone46 62 25 1211.2LIPE, APOC3, APOB, APOA1, LPL, INS
39vitamin a46 25 1210.0LPL, APOA1, APOB, FABP2, APOC2, APOC3
40gemfibrozil30 46 129.8LPL, APOB, APOC2, APOA2, APOC3, APOA1
41estrogen467.7APOB, LIPE, APOC3, USF1, LPL, INS
42cholesterol ester467.7APOB, LPL, FABP4, LIPE, APOA2, APOC3
43creatinine467.2APOB, FABP2, APOC2, APOA1, APOA4, INS
44serine467.0APOA2, APOA1, APOA4, INS, APOB, APOC3
45phospholipid466.5APOA1, APOA4, APOC3, APOA2, APOC2, LPL
46triacylglycerol466.5LPL, FABP2, LIPE, APOB, APOC2, APOA2
47fatty acid466.1LPL, FABP4, FABP2, LIPE, APOB, APOC2
48cholesterol46 30 25 128.7LPL, FABP2, LIPE, APOB, APOC2, APOA2
49glucose465.7INS, LPL, FABP4, FABP2, LIPE, APOB
50lipid465.7APOA4, USF1, INS, APOA1, APOC3, APOA2

GO Terms for genes affiliated with Familial Combined Hyperlipidemia

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17Gene Ontology
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Cellular components related to Familial Combined Hyperlipidemia according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1endosome lumenGO:0319049.7INS, APOB
2endocytic vesicle lumenGO:0716829.7APOB, APOA1
3secretory granule lumenGO:0347749.5INS, APOA1
4high-density lipoprotein particleGO:0343649.4APOA4, APOA1, APOA2
5intermediate-density lipoprotein particleGO:0343639.3APOC3, APOB, APOC2
6blood microparticleGO:0725629.2APOA2, APOA1, APOA4
7low-density lipoprotein particleGO:0343629.0APOC2, APOB
8spherical high-density lipoprotein particleGO:0343668.8APOC3, APOA1, APOA2, APOC2
9endoplasmic reticulum lumenGO:0057888.7APOA1, APOB, APOA2, APOA4, INS
10chylomicronGO:0426278.3APOA4, APOC3, APOC2, APOB, APOA2, LPL
11early endosomeGO:0057698.1APOA4, APOA1, APOC3, APOA2, APOB, APOC2
12very-low-density lipoprotein particleGO:0343617.8APOB, APOC2, APOA2, APOC3, APOA1, APOA4
13extracellular spaceGO:0056157.6INS, APOA4, LPL, APOA1, APOC2, APOC3
14extracellular regionGO:0055767.2APOA2, APOA1, APOA4, APOC2, APOC3, INS

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

(show all 48)
idNameGO IDScoreTop Affiliating Genes
1triglyceride mobilizationGO:00664210.2APOB, APOC3
2negative regulation of cholesterol importGO:06062110.2APOA2, APOC3
3positive regulation of cholesterol storageGO:01088610.1LPL, APOB
4regulation of Cdc42 protein signal transductionGO:03248910.1APOC3, APOA1
5very-low-density lipoprotein particle assemblyGO:03437910.0APOC3, APOB
6negative regulation of lipase activityGO:06019210.0APOA2, APOA1
7lipoprotein biosynthetic processGO:04215810.0APOB, APOA1
8negative regulation of cytokine secretion involved in immune responseGO:00274010.0APOA1, APOA2
9protein oxidationGO:0181589.9APOA2, APOA1
10high-density lipoprotein particle assemblyGO:0343809.9APOA1, APOA2
11peptidyl-methionine modificationGO:0182069.9APOA1, APOA2
12triglyceride metabolic processGO:0066419.9APOA2, APOC3, LPL
13low-density lipoprotein particle remodelingGO:0343749.8APOA2, APOB
14diacylglycerol catabolic processGO:0463409.8LIPE, APOA2
15positive regulation of macrophage derived foam cell differentiationGO:0107449.8APOB, LPL
16negative regulation of very-low-density lipoprotein particle remodelingGO:0109039.8APOA2, APOC3, APOA1
17regulation of intestinal cholesterol absorptionGO:0303009.7APOA1, APOA2, APOA4
18negative regulation of very-low-density lipoprotein particle clearanceGO:0109169.7APOC2, APOC3
19cholesterol transportGO:0303019.7APOB, APOA1
20negative regulation of lipid metabolic processGO:0458339.7APOC2, APOC3
21positive regulation of cholesterol esterificationGO:0108739.7APOA1, APOA2, APOA4
22negative regulation of lipid catabolic processGO:0509959.7INS, APOA2, APOC3
23phosphatidylcholine biosynthetic processGO:0066569.6APOA1, APOA2
24triglyceride-rich lipoprotein particle remodelingGO:0343709.6APOA2, APOC2
25negative regulation of cholesterol transportGO:0323759.6APOA2, APOC2
26negative regulation of receptor-mediated endocytosisGO:0482619.6APOC3, APOC2
27chylomicron remnant clearanceGO:0343829.6APOC3, APOC2
28lipid homeostasisGO:0550889.6USF1, APOA4
29positive regulation of triglyceride catabolic processGO:0108989.5APOA4, APOC2
30positive regulation of fatty acid biosynthetic processGO:0457239.5APOA4, APOC2
31chylomicron remodelingGO:0343719.4APOC2, APOA4, LPL
32very-low-density lipoprotein particle remodelingGO:0343729.4APOC2, LPL, APOA4
33positive regulation of lipoprotein lipase activityGO:0510069.4APOA4, APOC2
34high-density lipoprotein particle remodelingGO:0343759.4APOA1, APOC3, APOA2, APOA4
35lipoprotein transportGO:0429539.4APOC2, APOB, APOC3
36high-density lipoprotein particle clearanceGO:0343849.2APOA2, APOA1, APOC2
37triglyceride homeostasisGO:0703289.0APOA1, APOC3, LPL, APOC2
38triglyceride catabolic processGO:0194338.9APOC3, APOB, LIPE, LPL, FABP4
39response to drugGO:0424938.6APOC2, APOA2, APOC3, APOA1, LPL
40phospholipid effluxGO:0337008.6APOA4, APOA1, APOC3, APOA2, APOC2
41reverse cholesterol transportGO:0436918.6APOA4, APOC2, APOA2, APOC3, APOA1
42cholesterol metabolic processGO:0082038.5APOB, APOA2, LIPE, APOC3, APOA4, APOA1
43cholesterol effluxGO:0333448.3APOA1, APOC3, APOA2, APOC2, APOB, APOA4
44lipoprotein metabolic processGO:0421578.0APOC3, APOC2, APOA1, APOA4, APOA2, APOB
45retinoid metabolic processGO:0015238.0APOA4, APOA1, APOC3, APOA2, APOC2, APOB
46phototransduction, visible lightGO:0076038.0APOB, APOC3, APOC2, APOA2, LPL, APOA1
47cholesterol homeostasisGO:0426327.8FABP4, APOB, APOA4, APOA1, APOC3, APOA2
48small molecule metabolic processGO:0442816.3APOA1, APOA4, APOC3, APOA2, APOC2, INS

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

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

Products for genes affiliated with Familial Combined Hyperlipidemia

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  • Antibodies
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Sources for Familial Combined Hyperlipidemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet