MCID: HYP090
MIFTS: 55

Hyperalphalipoproteinemia malady

Genetic diseases, Endocrine diseases, Rare diseases categories
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Summaries for Hyperalphalipoproteinemia

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47OMIM, 33MalaCards
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MalaCards: Hyperalphalipoproteinemia, also known as cholesterol-ester transfer protein deficiency, is related to familial combined hyperlipidemia and hypertriglyceridemia. 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.

Description from OMIM:47 143470,614028

Aliases & Classifications for Hyperalphalipoproteinemia

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47OMIM, 45Novoseek, 62UMLS, 49Orphanet, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases


Aliases & Descriptions:

hyperalphalipoproteinemia 47 45 62
cholesterol-ester transfer protein deficiency 49
familial hyperalphalipoproteinemia 49
cept deficiency 49


External Ids:

SNOMED-CT via Orphanet59 238080004
ICD10 via Orphanet26 E78.4

Related Diseases for Hyperalphalipoproteinemia

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17GeneCards, 18GeneDecks
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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 hyperlipidemia30.1APOB, APOA1
2hypertriglyceridemia29.6LIPC, APOB, APOA2, APOC3, APOA1, ABCA1
3atherosclerosis29.3APOB, APOA2, APOC3, APOA1, SCARB1, ABCA1
4coronary artery disease29.3CRP, ABCA1, SCARB1, APOA1, APOC3, APOA2
5hepatitis10.3
6hyperalphalipoproteinemia 210.2
7cetp-related hyperalphalipoproteinemia10.1
8hepatic lipase deficiency10.1LIPC
9eye disease10.1CRP
10chylomicron retention disease10.1APOB
11fish-eye disease10.1APOA1, LCAT, APOA2
12complete lcat deficiency10.1APOA1, LCAT, APOA2
13alagille syndrome10.0APOA1, LCAT
14amyloidosis, renal10.0APOA1, APOA2
15arcus senilis10.0APOB, APOA1, LCAT
16peripheral vascular disease10.0APOA1, APOB, CETP
17cholestasis10.0LCAT, CETP, LIPC
18amyloidosis, secondary10.0CRP, LCAT, APOA1
19familial hypercholesterolemia10.0APOB, LDLR, CETP
20primary hyperoxaluria10.0LIPC, CETP, LCAT, APOC3
21lipase deficiency combined10.0LPL, LIPC
22coronary stenosis10.0APOB, LIPC, CETP, APOA1
23multiple symmetrical lipomatosis10.0
24multiple symmetric lipomatosis10.0
25artery disease10.0
26lipomatosis10.0
27hyperapobetalipoproteinemia10.0
28familial hypertriglyceridemia10.0LPL, APOB, APOC3
29hypobetalipoproteinemia10.0LDLR, APOB, APOA1, LCAT
30polycystic ovary syndrome10.0LIPC, APOA1, CRP
31hepatoblastoma10.0APOA2, APOB, APOA1, LDLR
32stroke, ischemic10.0APOB, APOA1, CRP
33hypothyroidism10.0CETP, APOB, LIPC, LDLR
34type 1 diabetes mellitus10.0APOB, LIPC, CETP, LCAT, APOA1
35acute myocardial infarction10.0LCAT, CRP, APOB, APOA1
36diabetic nephropathy10.0LIPC, APOB, APOA1
37congenital heart disease10.0APOA1, APOB, LIPC, CETP, LDLR
38amyloidosis9.9CRP, LPL, APOA2, APOA1
39lipodystrophy9.9LPL, LDLR, APOC3, APOB
40arteriosclerosis9.9APOA1, APOB, LPL, LDLR
41abetalipoproteinemia9.9CETP, LPL, LCAT, APOB, APOA1
42norum disease9.9APOB, LPL, LCAT, APOA2, APOA1
43nephrotic syndrome9.9APOB, CETP, LPL, LCAT, APOA1
44xanthomatosis9.9LPL, APOB, ABCA1, LDLR
45essential hypertension9.9LCAT, LPL, CETP, APOA1, APOB
46hypertension9.9APOB, CRP, APOA1, LPL
47alzheimer's disease9.9PLTP, CETP, LDLR, APOB, APOC3, ABCA1
48proteinuria9.9CETP, APOA2, APOB, APOA1, LCAT, CRP
49galactosemia9.9APOC3, APOA1, LIPC, LDLR, LCAT, APOB
50hyperlipidemia type 39.9LPL, 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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47OMIM
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Symptoms by clinical synopsis from OMIM:

143470

Clinical features from OMIM:

143470,614028

Drugs & Therapeutics for Hyperalphalipoproteinemia

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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37MGI
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MGI Mouse Phenotypes related to Hyperalphalipoproteinemia:

37
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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52PubMed
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Articles related to Hyperalphalipoproteinemia:

(show top 50)    (show all 54)
idTitleAuthorsYear
1
Resequencing CETP, LIPC and LIPG genes in Thai subjects with hyperalphalipoproteinemia. (22464213)
2012
2
Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia. (18926541)
2009
3
Two novel mutations and functional analyses of the CETP and LIPC genes underlying severe hyperalphalipoproteinemia. (19428034)
2009
4
Scavenger receptor class B type I protein as an independent predictor of high-density lipoprotein cholesterol levels in subjects with hyperalphalipoproteinemia. (19158204)
2009
5
Association of an intronic haplotype of the LIPC gene with hyperalphalipoproteinemia in two independent populations. (18160998)
2008
6
Genetic variation in phospholipid transfer protein modulates lipoprotein profiles in hyperalphalipoproteinemia. (19013296)
2008
7
Cholesteryl ester transfer protein and hyperalphalipoproteinemia in Caucasians. (17192423)
2007
8
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
9
Cholesteryl ester transfer protein gene mutations in Brazilian hyperalphalipoproteinemia. (16650090)
2006
10
Combined hyperlipidemia/hyperalphalipoproteinemia associated with premature spontaneous atherosclerosis in mice lacking hepatic lipase and low density lipoprotein receptor. (16384559)
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
Mutations of the human hepatic lipase gene in patients with combined hypertriglyceridemia/hyperalphalipoproteinemia and in patients with familial combined hyperlipidemia. (10606208)
1999
18
Hyperalphalipoproteinemia: characterization of a cardioprotective profile associating increased high-density lipoprotein2 levels and decreased hepatic lipase activity. (9711993)
1998
19
Upregulated synthesis of both apolipoprotein A-I and apolipoprotein B in familial hyperalphalipoproteinemia and hyperbetalipoproteinemia. (9751249)
1998
20
Hyperalphalipoproteinemia and prostaglandin I2 stability. (9336872)
1997
21
Serum apolipoprotein E-rich HDL-C levels in the subjects with hyperalphalipoproteinemia]. (9311266)
1997
22
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
23
Cholesteryl ester transfer protein (CETP) deficiency and increased HDL cholesterol levels (hyperalphalipoproteinemia)]. (8847813)
1996
24
Hyperalphalipoproteinemia in human lecithin cholesterol acyltransferase transgenic rabbits. In vivo apolipoprotein A-I catabolism is delayed in a gene dose-dependent manner. (8621767)
1996
25
Atherosclerotic disease in marked hyperalphalipoproteinemia. Combined reduction of cholesteryl ester transfer protein and hepatic triglyceride lipase. (7583564)
1995
26
Overexpression of human lecithin cholesterol acyltransferase leads to hyperalphalipoproteinemia in transgenic mice. (7744879)
1995
27
Unsaturated fatty acids incorporated in HDL in hypo- and hyperalphalipoproteinemia--relation to the HDL-cholesterol level. (7778503)
1994
28
A case of hyperalphalipoproteinemia associated with albumin complexing. (7840809)
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
A family of homozygous familial hyperalphalipoproteinemia with complete deficiency of cholesteryl ester transfer activity. (2360880)
1990
35
Human apolipoprotein A-I gene promoter polymorphism: association with hyperalphalipoproteinemia. (1980685)
1990
36
High density lipoprotein metabolism in a rabbit model of hyperalphalipoproteinemia. (2920068)
1989
37
Postheparin plasma lipoprotein and hepatic lipase are determinants of hypo- and hyperalphalipoproteinemia. (2504859)
1989
38
Small polydisperse low density lipoproteins in familial hyperalphalipoproteinemia with complete deficiency of cholesteryl ester transfer activity. (3355618)
1988
39
Decreased serum cholesteryl-ester transfer activity in a patient with familial hyperalphalipoproteinemia. (3193660)
1988
40
A familial hyperalphalipoproteinemia with low uptake of high density lipoproteins into peripheral lymphocytes. (3190815)
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
Lipoproteins in familial hyperalphalipoproteinemia. (7295190)
1981
48
Hyperalphalipoproteinemia in hypercholesterolemic adults and children. (7245576)
1980
49
Neonatal familial hyperalphalipoproteinemia. (191726)
1977
50
Familial hyperalphalipoproteinemia. (168823)
1975

Variations for Hyperalphalipoproteinemia

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hyperalphalipoproteinemia:

64
id Symbol AA change Variation ID SNP ID
1CETPp.Asp459GlyVAR_004172rs2303790
2CETPp.Leu168ProVAR_033099
3CETPp.Arg299CysVAR_033100

Clinvar genetic disease variations for Hyperalphalipoproteinemia:

1
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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50PathCards, 38NCBI BioSystems Database, 60Thomson Reuters, 55Reactome, 30KEGG, 12EMD Millipore, 51PharmGKB
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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 Metabolism38
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)38
8.5APOA1, APOC3, APOA2, LPL, PLTP
128.5ABCA1, APOA1, APOA2, APOB, CRP
13
Show member pathways
thioredoxin pathway38
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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45Novoseek, 29IUPHAR, 51PharmGKB, 11DrugBank, 24HMDB, 61Tocris Bioscience
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Compounds related to Hyperalphalipoproteinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 1308)
idCompoundScoreTop Affiliating Genes
1psyllium459.2LCAT, CETP, APOB, LDLR
2p-opc459.1APOA2, LIPG, APOA1, LCAT, CETP
3cholestyramine459.0LDLR, APOC3, APOB, CETP
4mspi458.8APOA2, APOB, LDLR, CETP, APOC3, APOA1
5fenofibric acid45 299.7APOB, APOC3, APOA1, LPL
6sele458.6LPL, CETP, LDLR, APOC3
7rosuvastatin45 51 29 1111.6APOC3, CETP, CRP, LDLR, APOB, APOA1
8taurocholate458.5LPL, APOB, APOC3, SCARB1, APOA1
9xbai458.5LPL, CETP, LDLR, APOB, APOC3
10lycopene45 249.4LDLR, LPL, CETP, SCARB1, CRP
11tocopherol458.4LDLR, APOB, APOA1, SCARB1, LPL
12carbohydrates458.2LPL, CETP, LDLR, LIPC, APOC3, SCARB1
13ezetimibe45 119.2CETP, CRP, LDLR, APOB, APOA1, ABCA1
14dextran sulfate458.2CETP, PLTP, LPL, LDLR, APOB, APOA1
15ciprofibrate45 299.1APOA1, LPL, LDLR, APOB
16palmitate458.1LPL, LDLR, CETP, APOB, APOA1, LCAT
17betacarotene458.1CRP, LPL, CETP, APOB, SCARB1
18aspirin45 51 29 2411.0LDLR, CRP, CETP, ABCA1, SCARB1, APOB
19fibrinogen458.0ABCA1, LIPC, APOB, APOA2, APOC3, APOA1
20sterol458.0SCARB1, APOA1, APOB, LIPC, LDLR, CETP
21fluvastatin45 51 29 1111.0CETP, CRP, LPL, APOB, APOA1, LDLR
22lovastatin45 51 61 29 1111.9APOA1, LPL, LDLR, APOB, APOC3, LIPC
23thyroxine45 248.9APOB, APOA1, CETP, LPL, LDLR, LIPC
24niacin45 118.9ABCA1, SCARB1, APOB, LDLR, CETP, LPL
25stearic acid45 24 119.9LPL, CETP, LIPC, ABCA1, LDLR, LIPG
26rosiglitazone29 45 51 24 1111.8SCARB1, APOC3, CRP, LPL, ABCA1, APOB
27intralipid457.8APOA1, APOC3, APOA2, APOB, LIPC, CETP
28gemfibrozil29 45 119.7APOB, LIPC, LDLR, CETP, LPL, APOA1
29oleic acid45 29 24 1110.7LIPC, LDLR, PLTP, CETP, LPL, ABCA1
30pioglitazone29 45 51 1110.6CRP, LIPC, APOB, APOA1, SCARB1, ABCA1
31alanine457.1CETP, CRP, SCARB1, PLTP, APOB, LDLR
32pravastatin45 51 29 24 1111.1ABCA1, APOA1, APOC3, APOB, LDLR, CETP
33estrogen457.0LCAT, LPL, APOA1, CETP, LDLR, LIPC
34heparin45 29 24 1110.0LCAT, APOA2, APOC3, APOB, LIPC, LIPG
35probucol45 117.8LCAT, PLTP, LPL, CETP, ABCA1, SCARB1
36vitamin a45 24 118.8APOA1, APOC3, APOB, LIPC, LDLR, CETP
37glucose456.7APOA2, APOB, PLTP, APOC3, APOA1, SCARB1
38simvastatin45 51 61 29 24 1111.7CETP, LPL, PLTP, LCAT, CRP, LDLR
39alpha tocopherol456.7ABCA1, SCARB1, APOA1, APOB, LDLR, CETP
40bezafibrate45 29 118.4ABCA1, APOA1, APOC3, APOA2, APOB, LIPC
41triacylglycerol456.4APOA1, APOC3, APOA2, APOB, LIPG, LIPC
42atorvastatin45 51 29 24 1110.4ABCA1, SCARB1, APOA1, APOC3, APOB, LIPC
43testosterone45 61 24 119.4SCARB1, APOA1, APOC3, APOB, LIPC, LDLR
44cholesterol ester456.3LCAT, PLTP, LPL, CETP, ABCA1, SCARB1
45fenofibrate45 51 118.1ABCA1, SCARB1, APOA1, APOC3, APOA2, APOB
46fatty acid456.0ABCA1, SCARB1, APOC3, APOA2, APOB, LIPG
47phosphatidylcholine455.9ABCA1, LCAT, SCARB1, APOA1, APOA2, APOB
48phospholipid455.7ABCA1, SCARB1, APOA1, APOC3, PLTP, LPL
49lipid455.1APOB, ABCA1, CRP, APOA1, APOC3, APOA2
50cholesterol45 29 24 118.1APOC3, LIPG, LIPC, CRP, LCAT, PLTP

GO Terms for genes affiliated with Hyperalphalipoproteinemia

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16Gene Ontology
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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

Products for genes affiliated with Hyperalphalipoproteinemia

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Sources for Hyperalphalipoproteinemia

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet