MCID: HYP090
MIFTS: 56

Hyperalphalipoproteinemia malady

Genetic diseases, Metabolic diseases, Endocrine diseases, Rare diseases categories

Summaries for Hyperalphalipoproteinemia

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MalaCards based summary: Hyperalphalipoproteinemia, also known as cholesterol ester transfer protein deficiency, is related to familial combined hyperlipidemia and hypertriglyceridemia, and has symptoms including autosomal dominant inheritanceand hyperalphalipoproteinemia. An important gene associated with Hyperalphalipoproteinemia is CETP (cholesteryl ester transfer protein, plasma), and among its related pathways are SREBF and miR33 in cholesterol and lipid homeostasis and Cholesterol and Sphingolipids transport Recycling to plasma membrane in lung normal and CF . The compounds psyllium and p-opc have been mentioned in the context of this disorder. Related mouse phenotypes are endocrine/exocrine gland and liver/biliary system.

Descriptions from OMIM:46 143470,614028

Aliases & Classifications for Hyperalphalipoproteinemia

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Sources:
46OMIM, 44Novoseek, 61UMLS, 48Orphanet, 27ICD10 via Orphanet
See all sources

Hyperalphalipoproteinemia, Aliases & Descriptions:

Name: Hyperalphalipoproteinemia 46 44 61
Cholesterol Ester Transfer Protein Deficiency 61
Cholesterol-Ester Transfer Protein Deficiency 48
 
Familial Hyperalphalipoproteinemia 48
Cept Deficiency 48


Classifications:



External Ids:

ICD10 via Orphanet27 E78.4

Related Diseases for Hyperalphalipoproteinemia

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Diseases in the Hyperalphalipoproteinemia family:

Cetp-Related Hyperalphalipoproteinemia Hyperalphalipoproteinemia 2

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

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1familial combined hyperlipidemia30.3APOB, APOA1
2hypertriglyceridemia28.2LIPC, APOB, APOA2, APOC3, APOA1, ABCA1
3hypoalphalipoproteinemia28.2LCAT, PLTP, LPL, CETP, LDLR, LIPC
4atherosclerosis27.3APOB, APOA2, APOC3, APOA1, SCARB1, ABCA1
5hepatic lipase deficiency10.5LIPC
6spiradenoma10.4CRP
7hepatitis10.4
8chylomicron retention disease10.3APOB
9fish-eye disease10.3APOA1, LCAT, APOA2
10hyperalphalipoproteinemia 210.3
11complete lcat deficiency10.2APOA1, LCAT, APOA2
12alagille syndrome10.2APOA1, LCAT
13amyloidosis, renal10.2APOA1, APOA2
14cetp-related hyperalphalipoproteinemia10.2
15hyperapobetalipoproteinemia10.2
16arcus senilis10.1APOB, APOA1, LCAT
17peripheral vascular disease10.1APOA1, APOB, CETP
18cholestasis10.1LCAT, CETP, LIPC
19amyloidosis, secondary10.1CRP, LCAT, APOA1
20familial hypercholesterolemia10.1APOB, LDLR, CETP
21primary hyperoxaluria10.1LIPC, CETP, LCAT, APOC3
22lipase deficiency combined10.0LPL, LIPC
23coronary stenosis10.0APOB, LIPC, CETP, APOA1
24multiple symmetric lipomatosis10.0
25multiple symmetrical lipomatosis10.0
26artery disease10.0
27lipomatosis10.0
28familial hypertriglyceridemia10.0LPL, APOB, APOC3
29hypobetalipoproteinemia10.0LDLR, APOB, APOA1, LCAT
30polycystic ovary syndrome10.0LIPC, APOA1, CRP
31hepatoblastoma9.9APOA2, APOB, APOA1, LDLR
32stroke, ischemic9.9APOB, APOA1, CRP
33hypothyroidism9.9CETP, APOB, LIPC, LDLR
34type 1 diabetes mellitus9.9APOB, LIPC, CETP, LCAT, APOA1
35acute myocardial infarction9.9LCAT, CRP, APOB, APOA1
36diabetic nephropathy9.8LIPC, APOB, APOA1
37congenital heart disease9.8APOA1, APOB, LIPC, CETP, LDLR
38amyloidosis9.8CRP, LPL, APOA2, APOA1
39lipodystrophy9.7LPL, LDLR, APOC3, APOB
40arteriosclerosis9.7APOA1, APOB, LPL, LDLR
41abetalipoproteinemia9.7CETP, LPL, LCAT, APOB, APOA1
42norum disease9.7APOB, LPL, LCAT, APOA2, APOA1
43nephrotic syndrome9.7APOB, CETP, LPL, LCAT, APOA1
44xanthomatosis9.7LPL, APOB, ABCA1, LDLR
45essential hypertension9.7LCAT, LPL, CETP, APOA1, APOB
46hypertension9.6APOB, CRP, APOA1, LPL
47alzheimer's disease9.6PLTP, CETP, LDLR, APOB, APOC3, ABCA1
48proteinuria9.6CETP, APOA2, APOB, APOA1, LCAT, CRP
49galactosemia9.6APOC3, APOA1, LIPC, LDLR, LCAT, APOB
50hyperlipidemia type 39.5LPL, CETP, LDLR, LIPC, APOB, APOA1

Graphical network of the top 20 diseases related to Hyperalphalipoproteinemia:



Diseases related to hyperalphalipoproteinemia

Symptoms for Hyperalphalipoproteinemia

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Symptoms by clinical synopsis from OMIM:

143470

Clinical features from OMIM:

143470,614028

HPO human phenotypes related to Hyperalphalipoproteinemia:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hyperalphalipoproteinemia HP:0012184

Drugs & Therapeutics for Hyperalphalipoproteinemia

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Drug clinical trials:

Search ClinicalTrials for Hyperalphalipoproteinemia

Search NIH Clinical Center for Hyperalphalipoproteinemia

Genetic Tests for Hyperalphalipoproteinemia

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Anatomical Context for Hyperalphalipoproteinemia

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Animal Models for Hyperalphalipoproteinemia or affiliated genes

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MGI Mouse Phenotypes related to Hyperalphalipoproteinemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.3LCAT, LDLR, LIPC, APOA1, SCARB1, ABCA1
2MP:00053707.1ABCA1, SCARB1, APOA1, APOB, LDLR, LPL
3MP:00053855.9ABCA1, SCARB1, APOA1, APOC3, APOB, LIPG
4MP:00053765.0CRP, ABCA1, SCARB1, APOA1, APOC3, APOA2

Publications for Hyperalphalipoproteinemia

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Articles related to Hyperalphalipoproteinemia:

(show top 50)    (show all 62)
idTitleAuthorsYear
1
Improved plasma cholesterol efflux capacity from human macrophages in patients with hyperalphalipoproteinemia. (24674903)
2014
2
Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia. (23219720)
2013
3
Resequencing CETP, LIPC and LIPG genes in Thai subjects with hyperalphalipoproteinemia. (22464213)
2012
4
Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia. (18926541)
2009
5
Two novel mutations and functional analyses of the CETP and LIPC genes underlying severe hyperalphalipoproteinemia. (19428034)
2009
6
Association of an intronic haplotype of the LIPC gene with hyperalphalipoproteinemia in two independent populations. (18160998)
2008
7
Genetic variation in phospholipid transfer protein modulates lipoprotein profiles in hyperalphalipoproteinemia. (19013296)
2008
8
Cholesteryl ester transfer protein and hyperalphalipoproteinemia in Caucasians. (17192423)
2007
9
The two novel CETP mutations Gln87X and Gln165X in a compound heterozygous state are associated with marked hyperalphalipoproteinemia and absence of significant coronary artery disease. (16855848)
2006
10
Cholesteryl ester transfer protein gene mutations in Brazilian hyperalphalipoproteinemia. (16650090)
2006
11
Antioxidative activity of HDL particle subspecies is impaired in hyperalphalipoproteinemia: relevance of enzymatic and physicochemical properties. (14739123)
2004
12
Prevalence and phenotypic spectrum of cholesteryl ester transfer protein gene mutations in Japanese hyperalphalipoproteinemia. (12482565)
2003
13
Distribution of human plasma PLTP mass and activity in hypo- and hyperalphalipoproteinemia. (12177167)
2002
14
A novel mutation in the intron 1 splice donor site of the cholesterol ester transfer protein (CETP) gene as a cause of hyperalphalipoproteinemia. (11887180)
2002
15
The Arg123-Tyr166 central domain of human ApoAI is critical for lecithin:cholesterol acyltransferase-induced hyperalphalipoproteinemia and HDL remodeling in transgenic mice. (10669644)
2000
16
Molecular mechanisms, lipoprotein abnormalities and atherogenicity of hyperalphalipoproteinemia. (10998455)
2000
17
Elevated hepatic apolipoprotein A-I transcription is associated with diet-induced hyperalphalipoproteinemia in rabbits. (10809165)
2000
18
Mutations of the human hepatic lipase gene in patients with combined hypertriglyceridemia/hyperalphalipoproteinemia and in patients with familial combined hyperlipidemia. (10606208)
1999
19
Hyperalphalipoproteinemia: characterization of a cardioprotective profile associating increased high-density lipoprotein2 levels and decreased hepatic lipase activity. (9711993)
1998
20
Molecular genetic study of Finns with hypoalphalipoproteinemia and hyperalphalipoproteinemia: a novel Gly230 Arg mutation (LCAT[Fin]) of lecithin:cholesterol acyltransferase (LCAT) accounts for 5% of cases with very low serum HDL cholesterol levels. (9555865)
1998
21
Upregulated synthesis of both apolipoprotein A-I and apolipoprotein B in familial hyperalphalipoproteinemia and hyperbetalipoproteinemia. (9751249)
1998
22
Hyperalphalipoproteinemia and prostaglandin I2 stability. (9336872)
1997
23
Serum apolipoprotein E-rich HDL-C levels in the subjects with hyperalphalipoproteinemia]. (9311266)
1997
24
Genetic cholesteryl ester transfer protein deficiency is extremely frequent in the Omagari area of Japan. Marked hyperalphalipoproteinemia caused by CETP gene mutation is not associated with longevity. (9194754)
1997
25
Cholesteryl ester transfer protein (CETP) deficiency and increased HDL cholesterol levels (hyperalphalipoproteinemia)]. (8847813)
1996
26
Atherosclerotic disease in marked hyperalphalipoproteinemia. Combined reduction of cholesteryl ester transfer protein and hepatic triglyceride lipase. (7583564)
1995
27
Overexpression of human lecithin cholesterol acyltransferase leads to hyperalphalipoproteinemia in transgenic mice. (7744879)
1995
28
Unsaturated fatty acids incorporated in HDL in hypo- and hyperalphalipoproteinemia--relation to the HDL-cholesterol level. (7778503)
1994
29
Increased production of apolipoprotein A-I associated with elevated plasma levels of high-density lipoproteins, apolipoprotein A-I, and lipoprotein A-I in a patient with familial hyperalphalipoproteinemia. (8231838)
1993
30
Frequency of intron 14 splicing defect of cholesteryl ester transfer protein gene in the Japanese general population--relation between the mutation and hyperalphalipoproteinemia. (8318066)
1993
31
Rapid detection and prevalence of cholesteryl ester transfer protein deficiency caused by an intron 14 splicing defect in hyperalphalipoproteinemia. (8454281)
1993
32
Compound heterozygote of cholesteryl-ester transfer protein deficiency in a patient with hyperalphalipoproteinemia. (1418105)
1992
33
Association of a polymorphism in the Apo AI gene promoter with hyperalphalipoproteinemia. (1505654)
1992
34
Apolipoprotein C-III(Lys-58-->Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia. (2022742)
1991
35
A family of homozygous familial hyperalphalipoproteinemia with complete deficiency of cholesteryl ester transfer activity. (2360880)
1990
36
Human apolipoprotein A-I gene promoter polymorphism: association with hyperalphalipoproteinemia. (1980685)
1990
37
High density lipoprotein metabolism in a rabbit model of hyperalphalipoproteinemia. (2920068)
1989
38
Postheparin plasma lipoprotein and hepatic lipase are determinants of hypo- and hyperalphalipoproteinemia. (2504859)
1989
39
Small polydisperse low density lipoproteins in familial hyperalphalipoproteinemia with complete deficiency of cholesteryl ester transfer activity. (3355618)
1988
40
Decreased serum cholesteryl-ester transfer activity in a patient with familial hyperalphalipoproteinemia. (3193660)
1988
41
Type II hyperlipoproteinemia, hyperapobetalipoproteinemia, and hyperalphalipoproteinemia following renal transplantation: implications for atherogenic risk. (3303510)
1987
42
High density lipoproteins with poor reactivity to cholesteryl ester transfer reaction observed in a homozygote of familial hyperalphalipoproteinemia. (3789924)
1986
43
A pedigree of homozygous familial hyperalphalipoproteinemia. (6738363)
1984
44
Metabolic abnormalities in multiple symmetric lipomatosis: elevated lipoprotein lipase activity in adipose tissue with hyperalphalipoproteinemia. (6875381)
1983
45
Complex segregation analysis of hyperalphalipoproteinemia. (7078431)
1982
46
Hyperalphalipoproteinemia, birth to age to years. (7208170)
1981
47
Hyperalphalipoproteinemia in hypercholesterolemic adults and children. (7245576)
1980
48
Neonatal familial hyperalphalipoproteinemia. (191726)
1977
49
Composition of HDL-2 and HDL-3 in familial hyperalphalipoproteinemia. (186077)
1976
50
Familial hyperalphalipoproteinemia. (168823)
1975

Variations for Hyperalphalipoproteinemia

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UniProtKB/Swiss-Prot genetic disease variations for Hyperalphalipoproteinemia:

63
id Symbol AA change Variation ID SNP ID
1CETPp.Asp459GlyVAR_004172rs2303790
2CETPp.Leu168ProVAR_033099
3CETPp.Arg299CysVAR_033100

Clinvar genetic disease variations for Hyperalphalipoproteinemia:

7
id Gene Name Type Significance SNP ID Assembly Location
1CETPCETP, IVS14DS, G-A, +1single nucleotide variantPathogenic
2CETPNM_000078.2(CETP): c.1376A> G (p.Asp459Gly)single nucleotide variantPathogenicrs2303790GRCh37Chr 16, 57017292: 57017292
3CETPCETP, 1-BP INS, T, IVS14, +3insertionPathogenic

Expression for genes affiliated with Hyperalphalipoproteinemia

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Expression patterns in normal tissues for genes affiliated with Hyperalphalipoproteinemia

Search GEO for disease gene expression data for Hyperalphalipoproteinemia.

Pathways for genes affiliated with Hyperalphalipoproteinemia

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Pathways related to Hyperalphalipoproteinemia according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6LDLR, ABCA1
29.5ABCA1, APOA1, APOA2
3
Show member pathways
Vitamin B12 Metabolism37
9.5APOA1, SCARB1, ABCA1
49.5LIPC, LIPG
5
Show member pathways
9.4APOB, APOA1, SCARB1
69.4APOB, APOA1, SCARB1
7
Show member pathways
9.0APOB, APOA1, SCARB1, ABCA1
8
Show member pathways
8.9SCARB1, LDLR, LPL
9
Show member pathways
8.7ABCA1, APOA1, APOA2, LPL
10
Show member pathways
8.7LIPG, LIPC, LPL
11
Show member pathways
fatty acid beta-oxidation VI (peroxisome)37
8.5APOA1, APOC3, APOA2, LPL, PLTP
128.5ABCA1, APOA1, APOA2, APOB, CRP
13
Show member pathways
thioredoxin pathway37
8.0ABCA1, SCARB1, APOA1, APOB, LDLR, CRP
14
Show member pathways
7.9APOA1, APOC3, APOA2, APOB, LDLR, LPL
157.9APOA1, APOC3, APOA2, APOB, LDLR, LPL
16
Show member pathways
7.9APOA1, APOC3, APOA2, APOB, LDLR, LPL
17
Show member pathways
5.9ABCA1, LCAT, PLTP, LPL, CETP, LDLR
18
Show member pathways
5.9APOA2, APOC3, APOA1, SCARB1, ABCA1, APOB
19
Show member pathways
5.3LCAT, PLTP, LPL, CETP, LDLR, LIPC

Compounds for genes affiliated with Hyperalphalipoproteinemia

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Compounds related to Hyperalphalipoproteinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 1308)
idCompoundScoreTop Affiliating Genes
1psyllium449.2LCAT, CETP, APOB, LDLR
2p-opc449.1APOA2, LIPG, APOA1, LCAT, CETP
3cholestyramine449.0LDLR, APOC3, APOB, CETP
4mspi448.8APOA2, APOB, LDLR, CETP, APOC3, APOA1
5fenofibric acid44 299.7APOB, APOC3, APOA1, LPL
6sele448.6LPL, CETP, LDLR, APOC3
7rosuvastatin44 50 29 1211.6APOC3, CETP, CRP, LDLR, APOB, APOA1
8taurocholate448.5LPL, APOB, APOC3, SCARB1, APOA1
9xbai448.5LPL, CETP, LDLR, APOB, APOC3
10lycopene44 259.4LDLR, LPL, CETP, SCARB1, CRP
11tocopherol448.4LDLR, APOB, APOA1, SCARB1, LPL
12carbohydrates448.2LPL, CETP, LDLR, LIPC, APOC3, SCARB1
13ezetimibe44 129.2CETP, CRP, LDLR, APOB, APOA1, ABCA1
14dextran sulfate448.2CETP, PLTP, LPL, LDLR, APOB, APOA1
15ciprofibrate44 299.1APOA1, LPL, LDLR, APOB
16palmitate448.1LPL, LDLR, CETP, APOB, APOA1, LCAT
17betacarotene448.1CRP, LPL, CETP, APOB, SCARB1
18aspirin44 50 29 2511.0LDLR, CRP, CETP, ABCA1, SCARB1, APOB
19fibrinogen448.0ABCA1, LIPC, APOB, APOA2, APOC3, APOA1
20sterol448.0SCARB1, APOA1, APOB, LIPC, LDLR, CETP
21fluvastatin44 50 29 1211.0CETP, CRP, LPL, APOB, APOA1, LDLR
22lovastatin44 50 60 29 1211.9APOA1, LPL, LDLR, APOB, APOC3, LIPC
23thyroxine44 258.9APOB, APOA1, CETP, LPL, LDLR, LIPC
24niacin44 128.9ABCA1, SCARB1, APOB, LDLR, CETP, LPL
25stearic acid44 25 129.9LPL, CETP, LIPC, ABCA1, LDLR, LIPG
26rosiglitazone29 44 50 25 1211.8SCARB1, APOC3, CRP, LPL, ABCA1, APOB
27intralipid447.8APOA1, APOC3, APOA2, APOB, LIPC, CETP
28gemfibrozil29 44 129.7APOB, LIPC, LDLR, CETP, LPL, APOA1
29oleic acid44 29 25 1210.7LIPC, LDLR, PLTP, CETP, LPL, ABCA1
30pioglitazone29 44 50 1210.6CRP, LIPC, APOB, APOA1, SCARB1, ABCA1
31alanine447.1CETP, CRP, SCARB1, PLTP, APOB, LDLR
32pravastatin44 50 29 25 1211.1ABCA1, APOA1, APOC3, APOB, LDLR, CETP
33estrogen447.0LCAT, LPL, APOA1, CETP, LDLR, LIPC
34heparin44 29 25 1210.0LCAT, APOA2, APOC3, APOB, LIPC, LIPG
35probucol44 127.8LCAT, PLTP, LPL, CETP, ABCA1, SCARB1
36vitamin a44 25 128.8APOA1, APOC3, APOB, LIPC, LDLR, CETP
37glucose446.7APOA2, APOB, PLTP, APOC3, APOA1, SCARB1
38simvastatin44 50 60 29 25 1211.7CETP, LPL, PLTP, LCAT, CRP, LDLR
39alpha tocopherol446.7ABCA1, SCARB1, APOA1, APOB, LDLR, CETP
40bezafibrate44 29 128.4ABCA1, APOA1, APOC3, APOA2, APOB, LIPC
41triacylglycerol446.4APOA1, APOC3, APOA2, APOB, LIPG, LIPC
42atorvastatin44 50 29 25 1210.4ABCA1, SCARB1, APOA1, APOC3, APOB, LIPC
43testosterone44 60 25 129.4SCARB1, APOA1, APOC3, APOB, LIPC, LDLR
44cholesterol ester446.3LCAT, PLTP, LPL, CETP, ABCA1, SCARB1
45fenofibrate44 50 128.1ABCA1, SCARB1, APOA1, APOC3, APOA2, APOB
46fatty acid446.0ABCA1, SCARB1, APOC3, APOA2, APOB, LIPG
47phosphatidylcholine445.9ABCA1, LCAT, SCARB1, APOA1, APOA2, APOB
48phospholipid445.7ABCA1, SCARB1, APOA1, APOC3, PLTP, LPL
49lipid445.1APOB, ABCA1, CRP, APOA1, APOC3, APOA2
50cholesterol44 29 25 128.1APOC3, LIPG, LIPC, CRP, LCAT, PLTP

GO Terms for genes affiliated with Hyperalphalipoproteinemia

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Cellular components related to Hyperalphalipoproteinemia according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1spherical high-density lipoprotein particleGO:0343669.7APOA1, APOC3, APOA2
2intermediate-density lipoprotein particleGO:0343639.7APOB, APOC3
3endocytic vesicle lumenGO:0716829.7APOB, APOA1
4high-density lipoprotein particleGO:0343649.2APOA1, APOA2, LIPC, CETP, LCAT
5low-density lipoprotein particleGO:0343629.2LDLR, APOB
6early endosomeGO:0057698.8APOA1, APOC3, APOA2, APOB, LDLR
7chylomicronGO:0426278.8APOC3, APOA2, APOB, LPL
8very-low-density lipoprotein particleGO:0343618.6LPL, APOB, APOA2, APOC3, APOA1
9cell surfaceGO:0099868.4ABCA1, SCARB1, LDLR, LPL
10extracellular regionGO:0055767.0APOA1, APOC3, APOA2, APOB, CETP, LPL
11extracellular spaceGO:0056156.7APOA1, APOC3, APOB, LIPG, LIPC, CETP

Biological processes related to Hyperalphalipoproteinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 52)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cholesterol importGO:06062110.3APOC3, APOA2
2negative regulation of lipase activityGO:06019210.2APOA2, APOA1
3regulation of intestinal cholesterol absorptionGO:03030010.2APOA1, APOA2
4protein oxidationGO:01815810.2APOA1, APOA2
5negative regulation of cytokine secretion involved in immune responseGO:00274010.2APOA1, APOA2
6peptidyl-methionine modificationGO:01820610.2APOA2, APOA1
7positive regulation of cholesterol esterificationGO:01087310.1APOA1, APOA2
8negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.1APOA1, APOC3, APOA2
9chylomicron remnant clearanceGO:03438210.1LIPC, APOC3
10blood vessel endothelial cell migrationGO:04353410.0APOA1, SCARB1
11regulation of phosphatidylcholine catabolic processGO:01089910.0SCARB1, LDLR
12high-density lipoprotein particle clearanceGO:03438410.0APOA2, APOA1, SCARB1
13triglyceride mobilizationGO:00664210.0APOC3, APOB
14negative regulation of lipid catabolic processGO:05099510.0APOA2, APOC3
15phosphatidylcholine biosynthetic processGO:0066569.9LCAT, APOA2, APOA1
16regulation of Cdc42 protein signal transductionGO:0324899.9ABCA1, APOA1, APOC3
17high-density lipoprotein particle assemblyGO:0343809.9ABCA1, APOA1, APOA2
18very-low-density lipoprotein particle assemblyGO:0343799.9APOB, APOC3
19cholesterol importGO:0705089.8SCARB1, APOA1, LDLR
20positive regulation of triglyceride biosynthetic processGO:0108679.8SCARB1, LDLR
21phospholipid transportGO:0159149.8CETP, LDLR, SCARB1
22lipoprotein catabolic processGO:0421599.8APOB, LDLR
23endothelial cell proliferationGO:0019359.8SCARB1, APOA1
24lipoprotein biosynthetic processGO:0421589.7APOA1, APOB, LCAT
25phospholipid effluxGO:0337009.7ABCA1, APOA1, APOC3, APOA2
26negative regulation of macrophage derived foam cell differentiationGO:0107459.7ABCA1, CETP, CRP
27phospholipid catabolic processGO:0093959.6APOA2, LIPG
28low-density lipoprotein particle clearanceGO:0343839.6LDLR, APOB, SCARB1
29low-density lipoprotein particle remodelingGO:0343749.5APOA2, APOB, LIPC, CETP
30lipoprotein transportGO:0429539.4APOB, APOC3
31phospholipid homeostasisGO:0550919.3ABCA1, APOA1, LIPG, CETP
32receptor-mediated endocytosisGO:0068989.3SCARB1, APOB, LDLR, CETP
33triglyceride metabolic processGO:0066419.3LPL, CETP, APOA2, APOC3
34response to nutrientGO:0075849.3LIPG, APOC3, APOA1, ABCA1
35positive regulation of cholesterol storageGO:0108869.2SCARB1, APOB, LPL
36very-low-density lipoprotein particle remodelingGO:0343729.1LIPC, CETP, LPL, LCAT
37lipid metabolic processGO:0066299.1PLTP, LDLR, LIPG
38cholesterol transportGO:0303019.1APOA1, APOB, LDLR, CETP, LCAT
39triglyceride catabolic processGO:0194338.9APOC3, APOB, LIPC, LPL
40cholesterol effluxGO:0333448.9ABCA1, SCARB1, APOA1, APOC3, APOA2, APOB
41response to drugGO:0424938.8ABCA1, APOA1, APOC3, APOA2, LPL
42triglyceride homeostasisGO:0703288.7SCARB1, APOA1, APOC3, LIPC, CETP, LPL
43retinoid metabolic processGO:0015238.3APOA1, APOC3, APOA2, APOB, LDLR, LPL
44phototransduction, visible lightGO:0076038.3APOA1, APOC3, APOA2, APOB, LDLR, LPL
45high-density lipoprotein particle remodelingGO:0343758.3LIPG, LIPC, CETP, LCAT, APOA2, APOC3
46reverse cholesterol transportGO:0436917.8ABCA1, SCARB1, APOA1, APOC3, APOA2, LIPG
47cholesterol metabolic processGO:0082037.8ABCA1, APOA1, APOC3, APOA2, APOB, LIPC
48lipoprotein metabolic processGO:0421577.0LPL, LCAT, CETP, LDLR, ABCA1, SCARB1
49small molecule metabolic processGO:0442817.0ABCA1, SCARB1, APOA1, APOC3, APOA2, APOB
50cholesterol homeostasisGO:0426326.9ABCA1, SCARB1, APOA1, APOC3, APOA2, APOB

Molecular functions related to Hyperalphalipoproteinemia according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein receptor bindingGO:03419010.1APOA1, APOA2
2phosphatidylcholine-sterol O-acyltransferase activator activityGO:06022810.0APOA2, APOA1
3high-density lipoprotein particle receptor bindingGO:07065310.0APOA1, APOC3, APOA2
4lipase inhibitor activityGO:0551029.9APOA1, APOC3, APOA2
5phosphatidylcholine bindingGO:0312109.9CETP, APOA2
6high-density lipoprotein particle bindingGO:0080359.8SCARB1, APOA1, APOA2
7phospholipid transporter activityGO:0055489.8ABCA1, APOA1, CETP
8apolipoprotein A-I bindingGO:0341869.7ABCA1, SCARB1, LCAT
9lipid transporter activityGO:0053199.7CETP, APOA2
10lipid bindingGO:0082899.6APOA2, CETP, PLTP
11triglyceride bindingGO:0171299.6LPL, CETP
12triglyceride lipase activityGO:0048069.3LPL, LIPC
13lipoprotein lipase activityGO:0044659.1LIPG, LPL
14low-density lipoprotein particle bindingGO:0301699.1SCARB1, LIPC, LDLR, CRP
15cholesterol transporter activityGO:0171279.1ABCA1, APOA1, APOA2, APOB, CETP
16phospholipid bindingGO:0055439.0ABCA1, APOA1, APOC3, APOA2, APOB
17phospholipase activityGO:0046208.9LPL, LIPC, LIPG
18apolipoprotein bindingGO:0341858.9LPL, LIPC, SCARB1, ABCA1
19cholesterol bindingGO:0154858.8CRP, CETP, APOA2, APOC3, APOA1, ABCA1
20heparin bindingGO:0082018.3LPL, LIPC, LIPG, APOB

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
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