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

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)
9.9ABCA1, APOA2, APOA1
49.7ABCA1, APOB, APOA1
59.7PPARA, ABCA1, LDLR
6
Hide members
9.6LPL, LIPC, SLC25A20
7
Hide members
9.2APOA1, APOA2, PPARA, ABCA1, SLC25A20
89.1APOB, LPA, CETP, LDLR
99.1APOA1, APOA2, APOB, LPA, ABCA1
109.0APOA1, APOC3, APOA2, PPARA, LPL, PLTP
118.9APOA1, APOB, ABCA1, GGT1, LDLR
128.9APOA1, APOC3, APOA2, APOB, LPL, LDLR
13
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8.9APOA1, APOC3, APOA2, APOB, LPL, LDLR
14
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8.4GBA, ABCA1, SLC25A20, GGT1, CETP, LDLR
15
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7.9LCAT, APOA1, APOC3, APOA2, APOB, PPARA
16
Hide members
7.8CETP, ABCA1, LPL, LPA, APOB, APOA2
17
Hide members
7.7LDLR, LCAT, CETP, PLTP, ABCA1, 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:0343669.9APOA1, APOC3, APOA2
3intermediate-density lipoprotein particleGO:0343639.8APOB, APOC3
4chylomicronGO:0426279.6APOC3, APOA2, APOB, LPL
5low-density lipoprotein particleGO:0343629.5LDLR, APOB
6high-density lipoprotein particleGO:0343649.5LCAT, APOA1, APOA2, LIPC, CETP
7very-low-density lipoprotein particleGO:0343619.4LPL, APOB, APOA2, APOC3, APOA1
8early endosomeGO:0057699.2APOA1, APOC3, APOA2, APOB, LDLR
9extracellular spaceGO:0056158.2LCAT, APOA1, APOC3, APOB, LPL, LIPC
10extracellular regionGO:0055767.7LCAT, APOA1, APOC3, APOA2, APOB, LPA

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:03030010.4APOA2, APOA1
3negative regulation of cholesterol importGO:06062110.4APOA2, APOC3
4protein oxidationGO:01815810.4APOA1, APOA2
5negative regulation of cytokine secretion involved in immune responseGO:00274010.3APOA1, APOA2
6high-density lipoprotein particle clearanceGO:03438410.3APOA1, APOA2
7cholesterol importGO:07050810.3APOA1, LDLR
8peptidyl-methionine modificationGO:01820610.3APOA1, APOA2
9high-density lipoprotein particle assemblyGO:03438010.2APOA1, APOA2, ABCA1
10positive regulation of cholesterol esterificationGO:01087310.2APOA1, APOA2
11regulation of Cdc42 protein signal transductionGO:03248910.2APOA1, APOC3, ABCA1
12negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.2APOA2, APOC3, APOA1
13phosphatidylcholine biosynthetic processGO:00665610.2APOA2, APOA1, LCAT
14phospholipid homeostasisGO:05509110.2APOA1, ABCA1, CETP
15chylomicron remnant clearanceGO:03438210.2APOC3, LIPC
16triglyceride mobilizationGO:00664210.2APOC3, APOB
17negative regulation of cholesterol storageGO:01088710.2PPARA, ABCA1
18lipoprotein catabolic processGO:04215910.2LDLR, APOB
19lipoprotein biosynthetic processGO:04215810.1LCAT, APOA1, APOB
20negative regulation of macrophage derived foam cell differentiationGO:01074510.1PPARA, ABCA1, CETP
21positive regulation of cholesterol storageGO:01088610.1APOB, LPL
22phospholipid effluxGO:03370010.0ABCA1, APOA2, APOC3, APOA1
23very-low-density lipoprotein particle assemblyGO:03437910.0APOC3, APOB
24phospholipid transportGO:01591410.0CETP, LDLR
25low-density lipoprotein particle clearanceGO:03438310.0APOB, LDLR
26triglyceride metabolic processGO:0066419.9CETP, LPL, APOA2, APOC3
27very-low-density lipoprotein particle remodelingGO:0343729.9LCAT, LPL, LIPC, CETP
28positive regulation of macrophage derived foam cell differentiationGO:0107449.9LPL, APOB
29lipid transportGO:0068699.8LPA, PLTP, CETP
30lipoprotein transportGO:0429539.8APOB, APOC3
31low-density lipoprotein particle remodelingGO:0343749.8APOA2, APOB, LIPC, CETP
32triglyceride catabolic processGO:0194339.7APOC3, APOB, LPL, LIPC
33negative regulation of lipid catabolic processGO:0509959.7APOA2, APOC3
34cholesterol effluxGO:0333449.7ABCA1, APOB, APOA2, APOC3, APOA1
35triglyceride homeostasisGO:0703289.7APOA1, APOC3, LPL, LIPC, CETP
36cholesterol transportGO:0303019.6LCAT, APOA1, APOB, CETP, LDLR
37response to drugGO:0424939.6APOA1, APOC3, APOA2, LPL
38cellular lipid metabolic processGO:0442559.5APOA1, APOA2, PPARA, ABCA1, SLC25A20
39retinoid metabolic processGO:0015239.5LDLR, LPL, APOB, APOA2, APOC3
40lipid metabolic processGO:0066299.5PPARA, LPA, PLTP, LDLR
41high-density lipoprotein particle remodelingGO:0343759.5LCAT, APOA1, APOC3, APOA2, LIPC, CETP
42receptor-mediated endocytosisGO:0068989.5LDLR, CETP, LPA, APOB
43phototransduction, visible lightGO:0076039.3APOA1, APOC3, APOA2, APOB, LPL, LDLR
44reverse cholesterol transportGO:0436919.3LCAT, CETP, ABCA1, LIPC, APOA2, APOC3
45cholesterol metabolic processGO:0082038.7LCAT, APOA1, APOC3, APOA2, APOB, LIPC
46cholesterol homeostasisGO:0426328.7LDLR, CETP, ABCA1, LIPC, APOB, APOA2
47lipoprotein metabolic processGO:0421577.9LDLR, CETP, ABCA1, LPL, LPA, PPARA
48small molecule metabolic processGO:0442816.6PPARA, APOB, APOA2, APOC3, APOA1, LCAT

Molecular functions related to Hypoalphalipoproteinemia according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein A-I bindingGO:03418610.3ABCA1, LCAT
2apolipoprotein receptor bindingGO:03419010.2APOA2, APOA1
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:06022810.2APOA1, APOA2
4triglyceride bindingGO:01712910.2LPL, CETP
5high-density lipoprotein particle bindingGO:00803510.2APOA2, APOA1
6high-density lipoprotein particle receptor bindingGO:07065310.1APOA1, APOC3, APOA2
7lipase inhibitor activityGO:05510210.1APOA2, APOC3, APOA1
8phospholipid transporter activityGO:00554810.1APOA1, ABCA1, CETP
9phosphatidylcholine bindingGO:03121010.0APOA2, CETP
10phospholipase activityGO:00462010.0LIPC, LPL
11triglyceride lipase activityGO:0048069.9LIPC, LPL
12lipid transporter activityGO:0053199.9CETP, APOA2
13lipid bindingGO:0082899.7CETP, PLTP, PPARA, APOA2
14cholesterol bindingGO:0154859.7APOA1, APOC3, APOA2, ABCA1, CETP
15low-density lipoprotein particle bindingGO:0301699.6LDLR, LIPC
16cholesterol transporter activityGO:0171279.6CETP, ABCA1, APOB, APOA2, APOA1
17apolipoprotein bindingGO:0341859.6ABCA1, LIPC, LPL, LPA
18phospholipid bindingGO:0055439.5ABCA1, APOB, APOA2, APOC3, APOA1
19heparin bindingGO:0082019.3APOB, LPA, LPL, LIPC

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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