MCID: HYP090
MIFTS: 47

Hyperalphalipoproteinemia malady

Metabolic diseases, Endocrine diseases, Genetic diseases categories

Summaries for Hyperalphalipoproteinemia

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46OMIM, 32MalaCards
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MalaCards: Hyperalphalipoproteinemia, also known as cholesterol-ester transfer protein deficiency, is related to hepatitis and familial combined hyperlipidemia. An important gene associated with Hyperalphalipoproteinemia is CETP (cholesteryl ester transfer protein, plasma), and among its related pathways are Golgi to ER Retrograde Transport and Scavenging by Class A Receptors. The compounds rosiglitazone and palmitate have been mentioned in the context of this disorder. Related mouse phenotypes are endocrine/exocrine gland and liver/biliary system.

Description from OMIM:46 143470,614028

Aliases & Classifications for Hyperalphalipoproteinemia

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46OMIM, 44Novoseek, 60UMLS, 48Orphanet, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

hyperalphalipoproteinemia 46 44 60
cholesterol-ester transfer protein deficiency 48
familial hyperalphalipoproteinemia 48
cept deficiency 48


External Ids:

SNOMED-CT via Orphanet57 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 94)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis30.5LDLR
2familial combined hyperlipidemia29.9APOB, APOA1
3familial hypertriglyceridemia29.9APOC3, APOB, LPL
4familial hyperlipidemia29.9LDLR, CETP, LIPC, LPL, APOB, APOA2
5coronary artery disease29.8LIPC, CRP, LPL, SCARB1, APOB, APOA2
6atherosclerosis29.8APOB, APOA2, APOC3, APOA1, LCAT, SCARB1
7hyperalphalipoproteinemia 210.2
8hepatitis a10.1
9cetp-related hyperalphalipoproteinemia10.1
10thromboembolism10.0APOA1
11alcohol abuse10.0LCAT
12age related macular degeneration10.0LIPC
13polyneuropathy10.0APOA2
14peritonitis10.0CRP
15hyperhomocysteinemia10.0CRP
16hyperuricemia10.0APOB
17schizophrenia10.0LDLR
18fatty liver disease10.0CRP
19eye disease10.0CRP
20kawasaki disease10.0CRP
21alagille syndrome10.0APOA1, LCAT
22chylomicron retention disease10.0APOB
23psoriasis10.0LDLR
24aortic aneurysm10.0CRP
25viral hepatitis10.0LCAT
26antiphospholipid syndrome10.0LDLR, PLTP
27lipoprotein lipase deficiency10.0LPL
28liver cirrhosis10.0CETP, LCAT
29ischemic heart disease10.0LPL
30liposarcoma10.0CETP
31amyloidosis, renal10.0APOA2, APOA1
32galactosemia10.0LCAT, CRP
33hyperthyroidism10.0LDLR, APOA2
34complete lcat deficiency10.0APOA2, APOA1, LCAT
35fish-eye disease10.0LCAT, APOA1, APOA2
36cholestasis10.0CETP, LIPC, LCAT
37dementia10.0CETP, LPL
38arcus senilis10.0LCAT, APOA1, APOB
39peripheral vascular disease10.0APOA1, APOB, CETP
40amyloidosis, secondary10.0CRP, APOA1, LCAT
41polycystic ovary syndrome10.0LIPC, CRP, APOA1
42primary hyperoxaluria10.0CETP, LIPC, APOC3, LCAT
43familial hypercholesterolemia10.0APOB, CETP, LDLR
44metabolic syndrome x10.0LPL
45lipase deficiency combined10.0LIPC, LPL
46glucose intolerance10.0APOB, LPL
47coronary stenosis10.0APOA1, APOB, LIPC, CETP
48cystic fibrosis10.0ABCA1, LPL
49breast cancer10.0LDLR, ABCA1, APOC3, LCAT
50hyperinsulinism10.0APOB, LPL

Graphical network of the top 20 diseases related to Hyperalphalipoproteinemia:



Diseases related to hyperalphalipoproteinemia

Clinical Features for Hyperalphalipoproteinemia

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46OMIM
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Clinical features from OMIM:

143470,614028

Clinical synopsis from OMIM:

143470

Drugs & Therapeutics for Hyperalphalipoproteinemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hyperalphalipoproteinemia

Drug clinical trials:

Search ClinicalTrials for Hyperalphalipoproteinemia

Search NIH Clinical Center for Hyperalphalipoproteinemia

Search CenterWatch 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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36MGI
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MGI Mouse Phenotypes related to Hyperalphalipoproteinemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.3LDLR, ABCA1, LIPC, SCARB1, LCAT, APOA1
2MP:00053707.0ABCA1, LPL, SCARB1, LDLR, APOB, APOA1
3MP:00053855.8LDLR, LPL, LIPG, CRP, SCARB1, APOB
4MP:00053765.0ABCA1, PLTP, LIPC, LIPG, CRP, LPL

Publications for Hyperalphalipoproteinemia

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Genetic Variations for Hyperalphalipoproteinemia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hyperalphalipoproteinemia:

62
id Symbol AA change Variation ID SNP ID
1CETPp.Asp459GlyVAR_004172rs2303790
2CETPp.Leu168ProVAR_033099
3CETPp.Arg299CysVAR_033100

Expression for genes affiliated with Hyperalphalipoproteinemia

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1BioGPS, 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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Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore, 49PharmGKB
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Pathways related to Hyperalphalipoproteinemia according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8CETP, ABCA1
29.6APOB, APOA1
39.6LDLR, ABCA1
49.5LIPG, LIPC
5
Hide members
9.4APOA1, APOA2, ABCA1
6
Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)
9.4APOA1, ABCA1, APOA2
79.4ABCA1, APOA1, SCARB1
8
Hide members
9.3APOB, APOA1, SCARB1
99.3APOA1, APOB, SCARB1
109.3APOA1, SCARB1, APOB
119.3CETP, APOB, LDLR
128.9APOB, ABCA1, SCARB1, APOA1
13
Hide members
8.8LPL, LDLR, SCARB1
148.7LPL, LIPC, LIPG
158.5PLTP, APOA1, APOC3, APOA2, LPL
168.4ABCA1, APOB, APOA2, CRP, APOA1
177.9SCARB1, ABCA1, APOB, APOA1, CRP, LDLR
18
Hide members
7.8APOA2, APOC3, APOA1, LPL, LDLR, APOB
197.8APOA1, LPL, APOB, APOA2, APOC3, LDLR
20
Hide members
6.6LCAT, APOA1, APOC3, APOA2, APOB, SCARB1
21
Hide members
6.5APOC3, ABCA1, LPL, SCARB1, APOB, APOA2
22
Hide members
5.9LCAT, APOA2, APOB, APOC3, ABCA1, APOA1

Compounds for genes affiliated with Hyperalphalipoproteinemia

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Hyperalphalipoproteinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 148)
idCompoundScoreTop Affiliating Genes
1rosiglitazone44 49 28 11 2414.3SCARB1
2palmitate449.8LCAT, CETP, LDLR
3psyllium449.3LCAT, APOB, CETP, LDLR
4xbai449.3LDLR, LPL, APOC3
5cholestyramine449.1APOC3, APOB, CETP, LDLR
6p-opc449.1LCAT, APOA1, APOA2, LIPG, CETP
722r-hydroxycholesterol44 2810.0LDLR, PLTP, ABCA1, APOA1
8mspi448.8APOA1, APOC3, APOA2, APOB, CETP, LDLR
9fenofibric acid44 289.7APOA1, APOC3, APOB, LPL
10alpha tocopherol448.7LDLR, PLTP, LPL, LCAT, SCARB1
11sele448.6APOC3, LPL, CETP, LDLR
12rosuvastatin44 49 28 1111.5APOA1, APOC3, APOB, CRP, CETP, LDLR
13taurocholate448.4APOA1, APOC3, APOB, SCARB1, LPL
14lycopene44 249.4SCARB1, LPL, CRP, CETP, LDLR
15tocopherol448.3APOA1, APOB, SCARB1, LPL, LDLR
16dextran sulfate448.2APOA1, APOB, LPL, PLTP, CETP, LDLR
17ezetimibe44 119.1LDLR, CETP, ABCA1, APOA1, APOB, SCARB1
18ciprofibrate44 289.1APOA1, APOB, LPL, LDLR
19carbohydrates448.0APOC3, SCARB1, LPL, LIPC, CETP, LDLR
20fibrinogen447.9APOA1, APOC3, APOA2, APOB, CRP, LIPC
21fluvastatin44 49 28 1110.9APOA1, APOB, LPL, CRP, CETP, LDLR
22sterol447.9LCAT, APOA1, APOB, SCARB1, LIPC, ABCA1
23aspirin44 49 28 2410.9APOA1, APOB, SCARB1, CRP, ABCA1, CETP
24pravastatin44 49 28 11 2411.9LDLR, CETP, ABCA1, LCAT, APOA1, APOC3
25stearic acid44 11 249.9LPL, LIPG, LIPC, ABCA1, CETP, LDLR
26lovastatin44 49 59 28 1111.9APOA1, APOC3, APOB, LPL, LIPC, CETP
27intralipid447.8LCAT, APOA1, APOC3, APOA2, APOB, LPL
28oleic acid44 28 11 2410.8APOB, LPL, LIPC, ABCA1, PLTP, CETP
29thyroxine44 248.8APOA1, APOB, LPL, LIPC, CETP, LDLR
30niacin44 118.8APOA1, APOB, SCARB1, LPL, ABCA1, CETP
31gemfibrozil44 28 119.6APOA1, APOC3, APOA2, APOB, LPL, LIPC
32pioglitazone44 49 28 1110.5APOA1, APOB, SCARB1, LPL, CRP, LIPC
33alanine447.1LCAT, APOA1, APOB, SCARB1, CRP, LIPG
34heparin44 28 11 2410.0LCAT, APOC3, APOA2, APOB, LPL, LIPG
35estrogen446.9LCAT, APOA1, APOC3, APOA2, APOB, SCARB1
36probucol44 117.9LCAT, APOA1, APOB, SCARB1, LPL, LIPC
37vitamin a44 11 248.8LCAT, APOA1, APOC3, APOB, SCARB1, LPL
38simvastatin44 49 59 28 11 2411.7APOA1, APOB, SCARB1, LPL, CRP, ABCA1
39glucose446.6APOA1, APOC3, APOA2, APOB, SCARB1, LPL
40triacylglycerol446.5LCAT, APOA1, APOC3, APOA2, APOB, LPL
41bezafibrate44 28 118.4APOC3, APOA2, APOB, LPL, CRP, LIPC
42atorvastatin44 49 28 11 2410.4LCAT, APOA1, APOC3, APOB, SCARB1, LPL
43testosterone44 59 11 249.3APOB, APOC3, APOA1, LCAT, SCARB1, LPL
44cholesterol ester446.3SCARB1, LPL, LIPC, ABCA1, PLTP, CETP
45fenofibrate44 49 118.0APOA1, APOC3, APOA2, APOB, SCARB1, LPL
46fatty acid446.0LPL, LIPG, LIPC, ABCA1, PLTP, CETP
47phosphatidylcholine445.9LIPG, LIPC, ABCA1, PLTP, CETP, LDLR
48phospholipid445.7LPL, LIPG, LIPC, ABCA1, PLTP, CETP
49cholesterol44 28 11 248.1LCAT, APOA1, APOC3, APOA2, APOB, SCARB1
50lipid445.1APOA2, APOB, SCARB1, LPL, CRP, LIPG

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 12)
idNameGO IDScoreTop Affiliating Genes
1intermediate-density lipoprotein particleGO:0343639.8APOC3, APOB
2spherical high-density lipoprotein particleGO:0343669.7APOA1, APOA2, APOC3
3endocytic vesicle lumenGO:0716829.5APOB, APOA1
4low-density lipoprotein particleGO:0343629.5APOB, LDLR
5endoplasmic reticulum lumenGO:0057889.3APOB, APOA2, APOA1
6high-density lipoprotein particleGO:0343649.2LCAT, APOA1, APOA2, LIPC, CETP
7clathrin-coated endocytic vesicle membraneGO:0306699.2LDLR, APOB
8chylomicronGO:0426278.8APOC3, APOA2, APOB, LPL
9early endosomeGO:0057698.8APOA2, LDLR, APOB, APOA1, APOC3
10very-low-density lipoprotein particleGO:0343618.5APOA1, APOA2, APOB, LPL, APOC3
11extracellular regionGO:0055767.1PLTP, CRP, LPL, APOB, APOA2, APOC3
12extracellular spaceGO:0056156.8LCAT, APOA1, APOC3, APOB, LPL, CRP

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:00274010.1APOA1, APOA2
6chylomicron remnant clearanceGO:03438210.1LIPC, APOC3
7peptidyl-methionine modificationGO:01820610.1APOA2, APOA1
8positive regulation of cholesterol esterificationGO:01087310.1APOA2, APOA1
9negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.0APOA1, APOC3, APOA2
10triglyceride mobilizationGO:00664210.0APOC3, APOB
11regulation of phosphatidylcholine catabolic processGO:01089910.0SCARB1, LDLR
12blood vessel endothelial cell migrationGO:0435349.9APOA1, SCARB1
13phosphatidylcholine biosynthetic processGO:0066569.9APOA2, APOA1, LCAT
14regulation of Cdc42 protein signal transductionGO:0324899.9ABCA1, APOC3, APOA1
15very-low-density lipoprotein particle assemblyGO:0343799.9APOB, APOC3
16high-density lipoprotein particle clearanceGO:0343849.9SCARB1, APOA2, APOA1
17high-density lipoprotein particle assemblyGO:0343809.8APOA1, APOA2, ABCA1
18lipoprotein catabolic processGO:0421599.8APOB, LDLR
19negative regulation of lipid catabolic processGO:0509959.8APOC3, APOA2
20endothelial cell proliferationGO:0019359.8SCARB1, APOA1
21phospholipid transportGO:0159149.8SCARB1, CETP, LDLR
22positive regulation of triglyceride biosynthetic processGO:0108679.8SCARB1, LDLR
23lipoprotein biosynthetic processGO:0421589.7LCAT, APOA1, APOB
24cholesterol importGO:0705089.7APOA1, SCARB1, LDLR
25negative regulation of macrophage derived foam cell differentiationGO:0107459.7CRP, ABCA1, CETP
26phospholipid catabolic processGO:0093959.6LIPG, APOA2
27phospholipid effluxGO:0337009.6APOA1, APOC3, APOA2, ABCA1
28receptor-mediated endocytosisGO:0068989.6LDLR, CETP, APOB
29response to nutrientGO:0075849.5APOA1, APOC3, LIPG
30low-density lipoprotein particle clearanceGO:0343839.5APOB, SCARB1, LDLR
31low-density lipoprotein particle remodelingGO:0343749.5APOA2, APOB, LIPC, CETP
32lipoprotein transportGO:0429539.4APOC3, APOB
33phospholipid homeostasisGO:0550919.3CETP, ABCA1, LIPG, APOA1
34triglyceride metabolic processGO:0066419.3APOC3, APOA2, LPL, CETP
35very-low-density lipoprotein particle remodelingGO:0343729.2LCAT, LPL, LIPC, CETP
36positive regulation of cholesterol storageGO:0108869.1APOB, SCARB1, LPL
37lipid metabolic processGO:0066299.1LDLR, PLTP, LIPG
38cholesterol transportGO:0303019.1LCAT, APOA1, APOB, CETP, LDLR
39response to drugGO:0424939.0APOA1, APOC3, APOA2, LPL
40triglyceride catabolic processGO:0194338.9APOC3, APOB, LPL, LIPC
41cholesterol effluxGO:0333448.7APOA1, APOC3, APOA2, APOB, SCARB1, ABCA1
42triglyceride homeostasisGO:0703288.6APOA1, APOC3, SCARB1, LPL, LIPC, CETP
43retinoid metabolic processGO:0015238.2APOA1, APOC3, APOA2, APOB, LPL, LDLR
44phototransduction, visible lightGO:0076038.2APOA1, APOC3, APOA2, APOB, LPL, LDLR
45high-density lipoprotein particle remodelingGO:0343758.2LCAT, APOA1, APOC3, APOA2, SCARB1, LIPG
46cholesterol metabolic processGO:0082037.8LCAT, APOA1, APOC3, APOA2, APOB, LIPC
47reverse cholesterol transportGO:0436917.8LIPG, LIPC, ABCA1, CETP, SCARB1, APOA2
48lipoprotein metabolic processGO:0421576.9LDLR, LCAT, APOA1, APOC3, APOA2, APOB
49small molecule metabolic processGO:0442816.9LCAT, APOA1, APOC3, APOA2, APOB, SCARB1
50cholesterol homeostasisGO:0426326.8APOA1, APOC3, APOA2, APOB, SCARB1, LIPG

Molecular functions related to Hyperalphalipoproteinemia according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein receptor bindingGO:03419010.0APOA1, APOA2
2lipid transporter activityGO:0053199.9CETP, APOA2
3high-density lipoprotein particle receptor bindingGO:0706539.9APOA1, APOC3, APOA2
4lipase inhibitor activityGO:0551029.9APOA2, APOC3, APOA1
5phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.9APOA2, APOA1
6phosphatidylcholine bindingGO:0312109.8APOA2, CETP
7phospholipid transporter activityGO:0055489.8ABCA1, CETP, APOA1
8high-density lipoprotein particle bindingGO:0080359.7SCARB1, APOA1, APOA2
9apolipoprotein A-I bindingGO:0341869.7ABCA1, SCARB1, LCAT
10triglyceride bindingGO:0171299.6LPL, CETP
11lipid bindingGO:0082899.4CETP, PLTP, APOA2
12low-density lipoprotein particle bindingGO:0301699.1SCARB1, CRP, LIPC, LDLR
13lipoprotein lipase activityGO:0044659.1LPL, LIPG
14cholesterol transporter activityGO:0171279.0CETP, ABCA1, APOB, APOA2, APOA1
15phospholipase activityGO:0046208.9LIPC, LIPG, LPL
16triglyceride lipase activityGO:0048068.9LIPG, LPL, LIPC
17phospholipid bindingGO:0055438.9ABCA1, APOB, APOC3, APOA1, APOA2
18apolipoprotein bindingGO:0341858.8SCARB1, LPL, LIPC, ABCA1
19cholesterol bindingGO:0154858.8APOC3, APOA1, APOA2, CRP, ABCA1, CETP
20heparin bindingGO:0082018.3APOB, LIPC, LIPG, LPL

Products for genes affiliated with Hyperalphalipoproteinemia

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Sources for Hyperalphalipoproteinemia

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet