MCID: LPS005
MIFTS: 22

Lipase Deficiency Combined malady

Summaries for Lipase Deficiency Combined

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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:47 246650

Aliases & Classifications for Lipase Deficiency Combined

Sources:
43NIH Rare Diseases, 47OMIM, 45Novoseek, 61UMLS
See all sources

Aliases & Descriptions:

lipase deficiency combined 43
lipase deficiency, combined 47 45
lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency 43
deficiency of triacylglycerol lipase 61
lpl and htgl deficiency 43
lpl and hl deficiency 43


Related Diseases for Lipase Deficiency Combined

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Lipase Deficiency Combined:



Diseases related to lipase deficiency combined

Clinical Features for Lipase Deficiency Combined

Sources:
47OMIM
See all sources

Clinical features from OMIM:

246650

Clinical synopsis from OMIM:

246650

Drugs & Therapeutics for Lipase Deficiency Combined

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Lipase Deficiency Combined

Drug clinical trials:

Search ClinicalTrials for Lipase Deficiency Combined

Search NIH Clinical Center for Lipase Deficiency Combined

Search CenterWatch for Lipase Deficiency Combined

Genetic Tests for Lipase Deficiency Combined

Anatomical Context for Lipase Deficiency Combined

Animal Models for Lipase Deficiency Combined or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Lipase Deficiency Combined

Sources:
51PubMed
See all sources

Articles related to Lipase Deficiency Combined:

idTitleAuthorsYear
1
Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. (17994020)
2007
2
Differential effect of combined lipase deficiency (cld/cld) on human hepatic lipase and lipoprotein lipase secretion. (11714855)
2001

Genetic Variations for Lipase Deficiency Combined

Expression for genes affiliated with Lipase Deficiency Combined

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 30KEGG, 50PharmGKB
See all sources

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
Hide members
9.1LIPC, LPL
4
Hide members
9.1LIPC, LPL

Compounds for genes affiliated with Lipase Deficiency Combined

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 50PharmGKB, 24HMDB
See all sources

Compounds related to Lipase Deficiency Combined according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1trioleoylglycerol459.5LIPC, LPL
2stanozolol459.5LIPC, LPL
3castanospermine459.5LIPC, LPL
4intralipid459.5LPL, LIPC
5hind iii459.5LIPC, LPL
6probucol45 1110.5LIPC, LPL
7orlistat45 60 1111.5LIPC, LPL
8gemfibrozil45 29 1111.5LPL, LIPC
9cholesterol ester459.5LIPC, LPL
10bezafibrate45 29 1111.5LIPC, LPL
11fenofibrate45 50 1111.5LIPC, LPL
12tunicamycin45 6010.5LPL, LIPC
13triacylglycerol459.5LPL, LIPC
14pioglitazone45 50 29 1112.4LIPC, LPL
15stearic acid45 11 2411.4LIPC, LPL
16palmitic acid29 11 2411.4LPL, LIPC
17myristic acid45 11 2411.4LIPC, LPL
18oleic acid45 29 11 2412.4LIPC, LPL
19lovastatin45 50 60 29 1113.4LIPC, LPL
20sodium dodecylsulfate459.4LPL, LIPC
21atorvastatin45 50 29 11 2413.4LIPC, LPL
22carbohydrates459.3LIPC, LPL
23thyroxine45 2410.3LPL, LIPC
24heparan sulfate45 2410.3LIPC, LPL
25glycerol45 11 2411.2LIPC, LPL
26acetyl-coa45 2410.2LIPC, LPL
27phosphatidylcholine459.1LPL, LIPC
28phospholipid459.1LIPC, LPL
29vitamin a45 11 2411.0LIPC, LPL
30polysaccharide458.8LIPC, LPL

GO Terms for genes affiliated with Lipase Deficiency Combined

Sources:
16Gene Ontology
See all sources

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lipase Deficiency Combined

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet