MCID: HYP121
MIFTS: 41

Hypoalphalipoproteinemia malady

Summaries for Hypoalphalipoproteinemia

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Hypoalphalipoproteinemia is a high-density lipoprotein deficiency, inherited in an autosomal dominant... more...

MalaCards: Hypoalphalipoproteinemia, also known as hypoalphalipoproteinemias, is related to tangier disease and coronary artery disease. An important gene associated with Hypoalphalipoproteinemia is APOA1 (apolipoprotein A-I), and among its related pathways are Golgi to ER Retrograde Transport and Scavenging by Class B Receptors. The compounds rosiglitazone and alpha tocopherol have been mentioned in the context of this disorder. Related mouse phenotypes are adipose tissue and endocrine/exocrine gland.

Description from OMIM:46 604091

Aliases & Classifications for Hypoalphalipoproteinemia

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46OMIM, 44Novoseek, 60UMLS
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Aliases & Descriptions:

hypoalphalipoproteinemia 46 44
hypoalphalipoproteinemias 60


Related Diseases for Hypoalphalipoproteinemia

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17GeneCards, 18GeneDecks
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Diseases related to Hypoalphalipoproteinemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 111)
idRelated DiseaseScoreTop Affiliating Genes
1tangier disease30.4LCAT, APOA1, APOC3, APOA2, CETP, PLTP
2coronary artery disease30.2LDLR, CETP, ACE, PLTP, ABCA1, LIPC
3hepatitis30.1LDLR, GGT1
4atherosclerosis30.0LDLR, CETP, GGT1, ACE, PLTP, RORA
5hyperhomocysteinemia29.9LPA
6familial hypercholesterolemia29.9LDLR, CETP, APOB
7amyloidosis29.9APOA1, APOA2, LPA, LPL
8hypertension29.8GGT1, ACE, LPL, LPA, PPARA, APOB
9obesity29.8LPA, PPARA, APOB, APOA2, APOC3, APOA1
10hypertriglyceridemia29.8LDLR, CETP, GGT1, PLTP, ABCA1, LIPC
11familial hdl deficiency10.4
12eye disease10.1
13thromboembolism10.0APOA1
14lipoprotein lipase deficiency10.0LPL
15age related macular degeneration10.0LIPC
16ischemia10.0PPARA
17acute pancreatitis10.0LPL
18polyneuropathy10.0APOA2
19dermatitis10.0PPARA
20cerebral atherosclerosis10.0APOA1
21gout10.0LCAT
22arthritis10.0PPARA
23chylomicron retention disease10.0APOB
24acromegaly10.0LPA
25glomerulonephritis10.0LPA
26cystic fibrosis10.0LPL, ABCA1
27antiphospholipid syndrome10.0PLTP, LDLR
28hyperthyroidism10.0LDLR, APOA2
29asthma10.0CETP
30amyloidosis, renal10.0APOA1, APOA2
31gallbladder disease10.0GGT1
32fish-eye disease10.0LCAT, APOA1, APOA2
33osteoarthritis10.0PPARA
34psoriasis10.0LDLR, PPARA
35colorectal cancer10.0LDLR, LPL
36lipase deficiency combined10.0LPL, LIPC
37hyperinsulinism10.0APOB, LPL
38familial combined hyperlipidemia10.0APOB, APOA1
39gaucher's disease10.0GBA
40pneumonia10.0PPARA
41arcus senilis10.0LCAT, APOA1, APOB
42polycystic ovary syndrome10.0APOA1, PPARA, LIPC
43alcohol abuse10.0LCAT, GGT1
44schizophrenia10.0LDLR, PPARA
45familial hypertriglyceridemia10.0LPL, APOB, APOC3
46nephrosclerosis10.0ACE
47fatty liver disease10.0GGT1, PPARA
48alagille syndrome10.0LCAT, APOA1, LPA
49pancreatitis10.0GGT1, LPL
50amyloidosis, secondary10.0LCAT, APOA1, LPA

Graphical network of the top 20 diseases related to Hypoalphalipoproteinemia:



Diseases related to hypoalphalipoproteinemia

Clinical Features for Hypoalphalipoproteinemia

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46OMIM
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Clinical features from OMIM:

604091

Drugs & Therapeutics for Hypoalphalipoproteinemia

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

Search CenterWatch for Hypoalphalipoproteinemia

Drug clinical trials:

Search ClinicalTrials for Hypoalphalipoproteinemia

Search NIH Clinical Center for Hypoalphalipoproteinemia

Search CenterWatch for Hypoalphalipoproteinemia

Genetic Tests for Hypoalphalipoproteinemia

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Anatomical Context for Hypoalphalipoproteinemia

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Animal Models for Hypoalphalipoproteinemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hypoalphalipoproteinemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.5PPARA, LPL, ACE, LDLR, APOC3
2MP:00053798.2GGT1, LDLR, LCAT, APOA1, ABCA1, ACE
3MP:00107717.9LPL, GBA, PPARA, LDLR, GGT1, RORA
4MP:00053707.9APOB, PPARA, LPL, GBA, LDLR, ABCA1
5MP:00053897.7GGT1, ACE, PLTP, RORA, ABCA1, LIPC
6MP:00053977.4APOC3, APOA1, LCAT, ABCA1, RORA, GGT1
7MP:00053877.2APOC3, PPARA, GBA, ABCA1, LDLR, RORA
8MP:00053857.0LDLR, APOA1, APOC3, APOB, PPARA, LPL
9MP:00053786.6LDLR, APOA2, APOB, LPL, PPARA, GBA
10MP:00053765.8LDLR, LCAT, APOA1, LPL, APOC3, APOA2

Publications for Hypoalphalipoproteinemia

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Genetic Variations for Hypoalphalipoproteinemia

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

62
id Symbol AA change Variation ID SNP ID
1ABCA1p.Arg230CysVAR_012619rs9282541
2ABCA1p.Met1091ThrVAR_012628
3ABCA1p.Pro2150LeuVAR_012636
4ABCA1p.Pro85LeuVAR_017529rs145183203
5ABCA1p.Asp1099TyrVAR_017530rs28933692
6ABCA1p.Phe2009SerVAR_037971

Expression for genes affiliated with Hypoalphalipoproteinemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypoalphalipoproteinemia

Search GEO for disease gene expression data for Hypoalphalipoproteinemia.

Pathways for genes affiliated with Hypoalphalipoproteinemia

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

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0CETP, ABCA1
29.9APOB, APOA1
3
Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)
9.9APOA1, APOA2, ABCA1
49.7ABCA1, APOA1, APOB
59.7ABCA1, LDLR, PPARA
6
Hide members
9.6LIPC, LPL, SLC25A20
7
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9.2SLC25A20, APOA2, PPARA, ABCA1, APOA1
89.1LPA, APOB, LDLR, CETP
99.1ABCA1, LPA, APOB, APOA1, APOA2
109.0APOA1, APOC3, PPARA, LPL, PLTP, APOA2
118.9APOB, APOA1, ABCA1, GGT1, LDLR
128.9APOA2, APOB, APOC3, LDLR, APOA1, LPL
13
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8.9LDLR, LPL, APOB, APOA2, APOA1, APOC3
14
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8.4SLC25A20, LDLR, CETP, ABCA1, GGT1, GBA
15
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7.9APOA2, LCAT, APOA1, APOC3, LPA, LIPC
16
Hide members
7.8LDLR, APOC3, APOA2, APOB, LPA, LPL
17
Hide members
7.7APOB, ABCA1, PLTP, CETP, LDLR, LIPC

Compounds for genes affiliated with Hypoalphalipoproteinemia

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

(show top 50)    (show all 154)
idCompoundScoreTop Affiliating Genes
1rosiglitazone44 49 28 11 2414.2PPARA
2alpha tocopherol449.9LCAT, LPL, PLTP, LDLR
3xbai449.9LDLR, LPL, APOC3
4palmitate449.7LCAT, LDLR, CETP, PPARA
5psyllium449.5LDLR, CETP, APOB, LCAT
6fenofibric acid44 2810.4LPL, PPARA, APOB, APOC3, APOA1
7estrogen449.4LIPC, LCAT, APOC3, LPA, CETP
8dimyristoylphosphatidylcholine449.4LDLR, APOA2, APOA1, LCAT, LPA
9ciprofibrate44 2810.3LDLR, APOB, LPL, APOA1, PPARA
10p-opc449.3LCAT, APOA1, CETP, APOA2
11hind iii449.2APOC3, ABCA1, LPA, LIPC, LPL
12ezetimibe44 1110.2ABCA1, APOA1, CETP, PPARA, APOB, LDLR
13sele449.2APOC3, LPL, CETP, ACE, LDLR
14cholestyramine449.2CETP, APOC3, LPA, LDLR, APOB
15rosuvastatin44 49 28 1112.2APOB, PPARA, APOA1, CETP, LDLR, APOC3
16dextran sulfate449.1LDLR, APOA1, APOB, CETP, LPL, PLTP
17fluvastatin44 49 28 1112.0PPARA, LPL, APOA1, APOB, LDLR, CETP
18stearic acid44 11 2411.0PPARA, LPL, LIPC, ABCA1, LDLR, CETP
19linoleic acid44 28 2410.9PPARA, LCAT, LPL, ABCA1, CETP, LDLR
20taurocholate448.9LPL, APOC3, APOA1, APOB, GBA
21intralipid448.9CETP, LIPC, LPL, APOB, APOA2, APOC3
22mspi448.9APOA1, LDLR, CETP, LPA, APOB, APOA2
23carnitine448.8APOA1, APOB, PPARA, LPL, SLC25A20, ABCA1
24sterol448.7CETP, LCAT, APOB, PPARA, LIPC, ABCA1
25pioglitazone44 49 28 1111.7LPL, PPARA, GGT1, ABCA1, LIPC, APOA1
26heparin44 28 11 2411.6LPA, APOA2, LDLR, APOC3, LCAT, CETP
27niacin44 119.6CETP, ABCA1, LPL, LPA, LDLR, PPARA
28metformin44 49 1110.5GGT1, ACE, LPL, PPARA, APOB, APOA1
29pravastatin44 49 28 11 2412.4LCAT, APOA1, LDLR, CETP, ABCA1, LPA
30glucose448.3APOA1, APOC3, APOA2, LPA, LPL, GBA
31probucol44 119.3PPARA, LPL, LIPC, ABCA1, LDLR, CETP
32oleic acid44 28 11 2411.2APOB, PPARA, LPA, LPL, LIPC, ABCA1
33thyroxine44 249.2APOA1, GGT1, APOB, LPA, LPL, LIPC
34simvastatin44 49 59 28 11 2413.1LPL, LPA, PPARA, APOB, APOA1, LCAT
35triacylglycerol448.0LPL, LIPC, PLTP, CETP, LDLR, PPARA
36lovastatin44 49 59 28 1112.0APOB, APOC3, APOA1, LDLR, CETP, GGT1
37gemfibrozil44 28 1110.0PPARA, APOB, APOA2, APOC3, APOA1, LPA
38phosphatidylcholine448.0LPA, LPL, LIPC, ABCA1, PLTP, CETP
39serine447.9LDLR, APOA2, LCAT, CETP, RORA, GBA
40aspirin44 49 28 2410.9GBA, LPA, ACE, APOB, APOA1, CETP
41atorvastatin44 49 28 11 2411.8LDLR, CETP, ABCA1, LIPC, LPL, LPA
42phospholipid447.8LCAT, APOA1, APOC3, APOA2, APOB, LPL
43testosterone44 59 11 2410.7APOB, APOA1, LPL, CETP, GGT1, ABCA1
44fenofibrate44 49 119.6CETP, LDLR, PLTP, ABCA1, LIPC, APOA1
45vitamin a44 11 249.5PPARA, LPA, LPL, LIPC, GGT1, CETP
46cholesterol ester447.4LDLR, CETP, PLTP, ABCA1, PPARA, APOB
47fatty acid447.2LCAT, APOC3, APOA2, APOB, PPARA, LPA
48bezafibrate44 28 119.1LCAT, APOA1, APOC3, APOA2, APOB, PPARA
49cholesterol44 28 11 248.3LCAT, APOA1, APOC3, APOA2, APOB, PPARA
50lipid444.9GBA, PPARA, LPA, LPL, LIPC, ABCA1

GO Terms for genes affiliated with Hypoalphalipoproteinemia

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16Gene Ontology
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Cellular components related to Hypoalphalipoproteinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:0716829.9APOB, APOA1
2spherical high-density lipoprotein particleGO:0343669.9APOA2, APOC3, APOA1
3intermediate-density lipoprotein particleGO:0343639.8APOC3, APOB
4chylomicronGO:0426279.6LPL, APOB, APOA2, APOC3
5low-density lipoprotein particleGO:0343629.5APOB, LDLR
6high-density lipoprotein particleGO:0343649.5CETP, LIPC, APOA2, APOA1, LCAT
7very-low-density lipoprotein particleGO:0343619.4LPL, APOB, APOA2, APOC3, APOA1
8early endosomeGO:0057699.2APOA1, LDLR, APOA2, APOB, APOC3
9extracellular spaceGO:0056158.2CETP, APOA1, LCAT, APOB, APOC3, LPL
10extracellular regionGO:0055767.7APOB, LCAT, CETP, ACE, PLTP, APOA1

Biological processes related to Hypoalphalipoproteinemia according to GeneCards/GeneDecks:

(show all 48)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of lipase activityGO:06019210.4APOA1, APOA2
2regulation of intestinal cholesterol absorptionGO:03030010.4APOA1, APOA2
3negative regulation of cholesterol importGO:06062110.4APOC3, APOA2
4negative regulation of cytokine secretion involved in immune responseGO:00274010.4APOA1, APOA2
5protein oxidationGO:01815810.4APOA2, APOA1
6high-density lipoprotein particle clearanceGO:03438410.3APOA2, APOA1
7cholesterol importGO:07050810.3LDLR, APOA1
8peptidyl-methionine modificationGO:01820610.3APOA2, APOA1
9positive regulation of cholesterol esterificationGO:01087310.3APOA1, APOA2
10high-density lipoprotein particle assemblyGO:03438010.2APOA1, ABCA1, APOA2
11regulation of Cdc42 protein signal transductionGO:03248910.2ABCA1, APOC3, APOA1
12negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.2APOC3, APOA1, APOA2
13phosphatidylcholine biosynthetic processGO:00665610.2APOA1, APOA2, LCAT
14phospholipid homeostasisGO:05509110.2CETP, APOA1, ABCA1
15chylomicron remnant clearanceGO:03438210.2APOC3, LIPC
16negative regulation of cholesterol storageGO:01088710.2PPARA, ABCA1
17triglyceride mobilizationGO:00664210.2APOC3, APOB
18lipoprotein catabolic processGO:04215910.2APOB, LDLR
19lipoprotein biosynthetic processGO:04215810.1APOB, LCAT, APOA1
20phospholipid transportGO:01591410.1CETP, LDLR
21negative regulation of macrophage derived foam cell differentiationGO:01074510.1ABCA1, PPARA, CETP
22positive regulation of cholesterol storageGO:01088610.0APOB, LPL
23phospholipid effluxGO:03370010.0APOA1, ABCA1, APOA2, APOC3
24very-low-density lipoprotein particle assemblyGO:03437910.0APOB, APOC3
25low-density lipoprotein particle clearanceGO:0343839.9LDLR, APOB
26triglyceride metabolic processGO:0066419.9LPL, APOC3, CETP, APOA2
27very-low-density lipoprotein particle remodelingGO:0343729.9LIPC, LPL, LCAT, CETP
28positive regulation of macrophage derived foam cell differentiationGO:0107449.9LPL, APOB
29lipid transportGO:0068699.8PLTP, LPA, CETP
30lipoprotein transportGO:0429539.8APOB, APOC3
31low-density lipoprotein particle remodelingGO:0343749.8CETP, LIPC, APOB, APOA2
32triglyceride catabolic processGO:0194339.7LIPC, LPL, APOB, APOC3
33negative regulation of lipid catabolic processGO:0509959.7APOC3, APOA2
34cholesterol effluxGO:0333449.7APOA1, APOC3, APOA2, APOB, ABCA1
35triglyceride homeostasisGO:0703289.7CETP, LIPC, LPL, APOC3, APOA1
36cholesterol transportGO:0303019.6APOB, APOA1, LCAT, CETP, LDLR
37response to drugGO:0424939.6APOA1, APOC3, LPL, APOA2
38cellular lipid metabolic processGO:0442559.5PPARA, ABCA1, SLC25A20, APOA2, APOA1
39retinoid metabolic processGO:0015239.5APOA2, LDLR, LPL, APOB, APOC3
40lipid metabolic processGO:0066299.5PLTP, LPA, PPARA, LDLR
41high-density lipoprotein particle remodelingGO:0343759.5LCAT, APOC3, APOA2, CETP, APOA1, LIPC
42receptor-mediated endocytosisGO:0068989.5CETP, APOB, LPA, LDLR
43phototransduction, visible lightGO:0076039.3APOA1, LDLR, APOC3, APOA2, APOB, LPL
44reverse cholesterol transportGO:0436919.3CETP, LCAT, ABCA1, LIPC, APOA2, APOC3
45cholesterol metabolic processGO:0082038.7APOA1, LCAT, APOC3, APOA2, APOB, LIPC
46cholesterol homeostasisGO:0426328.7LDLR, CETP, ABCA1, LIPC, APOB, APOA2
47lipoprotein metabolic processGO:0421577.9APOA2, APOA1, APOC3, LPL, ABCA1, LCAT
48small molecule metabolic processGO:0442816.6APOA1, APOC3, GBA, APOA2, APOB, PPARA

Molecular functions related to Hypoalphalipoproteinemia according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein receptor bindingGO:03419010.3APOA1, APOA2
2apolipoprotein A-I bindingGO:03418610.2LCAT, ABCA1
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:06022810.2APOA1, APOA2
4triglyceride bindingGO:01712910.2LPL, CETP
5high-density lipoprotein particle bindingGO:00803510.2APOA1, APOA2
6high-density lipoprotein particle receptor bindingGO:07065310.1APOA1, APOA2, APOC3
7lipase inhibitor activityGO:05510210.1APOA2, APOC3, APOA1
8phospholipid transporter activityGO:00554810.1APOA1, CETP, ABCA1
9phosphatidylcholine bindingGO:03121010.0APOA2, CETP
10phospholipase activityGO:00462010.0LIPC, LPL
11triglyceride lipase activityGO:0048069.9LPL, LIPC
12low-density lipoprotein particle bindingGO:0301699.8LDLR, LIPC
13lipid bindingGO:0082899.7PLTP, APOA2, PPARA, CETP
14lipid transporter activityGO:0053199.7APOA2, CETP
15cholesterol bindingGO:0154859.7APOC3, APOA2, CETP, APOA1, ABCA1
16cholesterol transporter activityGO:0171279.6ABCA1, APOB, APOA2, CETP, APOA1
17apolipoprotein bindingGO:0341859.6ABCA1, LPL, LPA, LIPC
18phospholipid bindingGO:0055439.5ABCA1, APOA2, APOC3, APOA1, APOB
19heparin bindingGO:0082019.3LIPC, APOB, LPL, LPA

Products for genes affiliated with Hypoalphalipoproteinemia

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Sources for Hypoalphalipoproteinemia

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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
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