MCID: CHY004

Chylomicronemia Syndrome malady

Summaries for Chylomicronemia Syndrome

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44Wikipedia, 22MalaCards
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Wikipedia: Lipoprotein lipase deficiency (also known as \"chylomicronemia\", \"chylomicronemia syndrome\" and...44 more...

MalaCards: Chylomicronemia Syndrome is related to familial lipoprotein lipase deficiency and familial hypertriglyceridemia. An important gene associated with Chylomicronemia Syndrome is APOC2 (apolipoprotein C-II), and among its related pathways are Metabolism of lipids and lipoproteins and Statin Pathway, Pharmacodynamics. The compounds trioleoylglycerol and gemfibrozil have been mentioned in the context of this disorder.

Aliases & Descriptions for Chylomicronemia Syndrome

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7diseasecard, 43UMLS
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chylomicronemia syndrome 7 43

Related Diseases for Chylomicronemia Syndrome

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13GeneCards, 14GeneDecks
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Graphical network of the top 20 diseases related to chylomicronemia syndrome:



Graphical network of diseases related to chylomicronemia syndrome

Clinical Features for Chylomicronemia Syndrome

Drugs & Therapeutics for Chylomicronemia Syndrome

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4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Chylomicronemia Syndrome

Anatomical Context for Chylomicronemia Syndrome

Phenotypes for genes affiliated with Chylomicronemia Syndrome

Publications for genes affiliated with Chylomicronemia Syndrome

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35PubMed
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Articles related to chylomicronemia syndrome:

idTitleAuthorsYearAffiliating Genes
1Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome. (16153625)Lam C.W.... Tong S.F.2006APOC2
2Recurrent acute and chronic pancreatitis in two brothers with familial chylomicronemia syndrome. (16552344)Truninger K.... Ammann R.W.2006LPL, PRSS1
3Familial chylomicronemia syndrome. (15758547)Mohandas M.K.... George T.T.2005LPL
4Chylomicronemia syndrome (11905095)Francis A.... Levy Y.2002LPL, APOC2
5Chylomicronemia syndrome in 45 years old man (11865593)Obojski A.... MaA8olepszy J.2001LPL
6Therapeutic plasma exchange in patients with chylomicronemia syndrome complicated by acute pancreatitis. (10427620)Lennertz A.... Bosch T.1999LPL, APOC2
7Therapeutic response to medium-chain triglycerides and omega-3 fatty acids in a patient with the familial chylomicronemia syndrome. (9261273)Rouis M.... Santamarina-Fojo S.1997LPL

Expression for genes affiliated with Chylomicronemia Syndrome

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Chylomicronemia Syndrome

Pathways for genes affiliated with Chylomicronemia Syndrome

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38Reactome, 34PharmGKB
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Pathways related to chylomicronemia syndrome according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1Metabolism of lipids and lipoproteins389.3LPL, APOC2
2Statin Pathway, Pharmacodynamics349.0LPL, APOC2

Compounds for genes affiliated with Chylomicronemia Syndrome

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32Novoseek , 9DrugBank, 18HMDB
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Compounds related to chylomicronemia syndrome according to GeneDecks:

idCompoundScoreTop Affiliating Genes
1trioleoylglycerol32 9.5LPL, APOC2
2gemfibrozil32 9 9 11.4LPL, APOC2
3triacylglycerol32 9.4LPL, APOC2
4sodium dodecylsulfate32 9.3APOC2, LPL
5phospholipid32 9.3LPL, APOC2
6vitamin a32 9 18 9 12.2LPL, APOC2
7polysaccharide32 8.8LPL, PRSS1

GO Terms for genes affiliated with Chylomicronemia Syndrome

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12Gene Ontology
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Cellular components related to chylomicronemia syndrome according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chylomicronGO:0426279.3LPL, APOC2
2very-low-density lipoprotein particleGO:0343619.2LPL, APOC2
3extracellular regionGO:0055768.5LPL, APOC2, PRSS1
4extracellular spaceGO:0056158.2PRSS1, APOC2, LPL

Biological processes related to chylomicronemia syndrome according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chylomicron remodelingGO:0343719.4LPL, APOC2
2very-low-density lipoprotein particle remodelingGO:0343729.4LPL, APOC2
3triglyceride homeostasisGO:0703289.3LPL, APOC2
4response to drugGO:0424939.3LPL, APOC2
5lipoprotein metabolic processGO:0421579.2APOC2, LPL
6lipid metabolic processGO:0066299.0LPL, APOC2

Sources for Chylomicronemia Syndrome

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS