MCID: LPS005
MIFTS: 26

Lipase Deficiency Combined malady

Summaries for Lipase Deficiency Combined

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46OMIM, 32MalaCards
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MalaCards: Lipase Deficiency Combined, also known as lipase deficiency, combined, is related to pancreatic lipase deficiency and hyperalphalipoproteinemia. An important gene associated with Lipase Deficiency Combined is LMF1 (lipase maturation factor 1), and among its related pathways are Fatty Acid Beta Oxidation and Glycerolipid metabolism. The compounds trioleoylglycerol and stanozolol have been mentioned in the context of this disorder.

Description from OMIM:46 246650

Aliases & Classifications for Lipase Deficiency Combined

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42NIH Rare Diseases, 46OMIM, 44Novoseek, 60UMLS
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Aliases & Descriptions:

lipase deficiency combined 42
lipase deficiency, combined 46 44
lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency 42
deficiency of triacylglycerol lipase 60
lpl and htgl deficiency 42
lpl and hl deficiency 42


Related Diseases for Lipase Deficiency Combined

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Lipase Deficiency Combined:



Diseases related to lipase deficiency combined

Clinical Features for Lipase Deficiency Combined

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46OMIM
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Clinical features from OMIM:

246650

Clinical synopsis from OMIM:

246650

Drugs & Therapeutics for Lipase Deficiency Combined

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

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Drug clinical trials:

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Genetic Tests for Lipase Deficiency Combined

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Anatomical Context for Lipase Deficiency Combined

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Animal Models for Lipase Deficiency Combined or affiliated genes

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Publications for Lipase Deficiency Combined

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Genetic Variations for Lipase Deficiency Combined

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Expression for genes affiliated with Lipase Deficiency Combined

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

Search GEO for disease gene expression data for Lipase Deficiency Combined.

Pathways for genes affiliated with Lipase Deficiency Combined

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37NCBI BioSystems Database, 29KEGG, 49PharmGKB
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Pathways related to Lipase Deficiency Combined according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1LIPC, LPL
29.1LIPC, LPL
3
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9.1LIPC, LPL
4
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9.1LIPC, LPL

Compounds for genes affiliated with Lipase Deficiency Combined

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

(show all 30)
idCompoundScoreTop Affiliating Genes
1trioleoylglycerol449.5LPL, LIPC
2stanozolol449.5LIPC, LPL
3castanospermine449.5LIPC, LPL
4intralipid449.5LPL, LIPC
5hind iii449.5LPL, LIPC
6probucol44 1110.5LIPC, LPL
7orlistat44 59 1111.5LPL, LIPC
8gemfibrozil44 28 1111.5LPL, LIPC
9cholesterol ester449.5LIPC, LPL
10bezafibrate44 28 1111.5LPL, LIPC
11fenofibrate44 49 1111.5LIPC, LPL
12tunicamycin44 5910.5LPL, LIPC
13triacylglycerol449.5LPL, LIPC
14pioglitazone44 49 28 1112.4LPL, LIPC
15stearic acid44 11 2411.4LPL, LIPC
16palmitic acid28 11 2411.4LIPC, LPL
17myristic acid44 11 2411.4LPL, LIPC
18oleic acid44 28 11 2412.4LIPC, LPL
19lovastatin44 49 59 28 1113.4LPL, LIPC
20sodium dodecylsulfate449.4LIPC, LPL
21atorvastatin44 49 28 11 2413.4LIPC, LPL
22carbohydrates449.3LPL, LIPC
23thyroxine44 2410.3LIPC, LPL
24heparan sulfate44 2410.3LIPC, LPL
25glycerol44 11 2411.2LPL, LIPC
26acetyl-coa44 2410.2LPL, LIPC
27phosphatidylcholine449.1LPL, LIPC
28phospholipid449.1LPL, LIPC
29vitamin a44 11 2411.0LPL, LIPC
30polysaccharide448.8LIPC, LPL

GO Terms for genes affiliated with Lipase Deficiency Combined

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16Gene Ontology
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Biological processes related to Lipase Deficiency Combined according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chylomicron remnant clearanceGO:0343829.4LIPC, LMF1
2very-low-density lipoprotein particle remodelingGO:0343729.1LPL, LIPC
3fatty acid biosynthetic processGO:0066339.1LPL, LIPC
4triglyceride homeostasisGO:0703289.0LIPC, LPL
5triglyceride catabolic processGO:0194338.8LPL, LIPC

Molecular functions related to Lipase Deficiency Combined according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phospholipase activityGO:0046209.1LIPC, LPL
2heparin bindingGO:0082019.1LIPC, LPL
3apolipoprotein bindingGO:0341859.0LIPC, LPL
4triglyceride lipase activityGO:0048068.8LIPC, LPL

Products for genes affiliated with Lipase Deficiency Combined

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lipase Deficiency Combined

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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