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HLS
MCID: HPT025

Hepatic Lipase Deficiency (HLS) malady
6 genes, 2 tissues, 328 related diseases, clinical trials, genetic tests.

Summaries for Hepatic Lipase Deficiency

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59Wikipedia, 43OMIM, 29MalaCards
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Wikipedia:59 Hepatic lipase is a form of lipase. It is expressed in the liver and adrenal glands. more...

MalaCards: Hepatic Lipase Deficiency, also known as deficiency of triacylglycerol lipase, is related to pancreatitis and hyperhomocysteinemia. An important gene associated with Hepatic Lipase Deficiency is LIPC (lipase, hepatic), and among its related pathways are Retinoid metabolism and transport and CDP-diacylglycerol biosynthesis I. The compounds cholesteryl linoleate and dopc have been mentioned in the context of this disorder. Affiliated tissues include liver, liver and adrenal gland, and related mouse phenotype liver/biliary system.

OMIM:

Aliases & Classifications for Hepatic Lipase Deficiency

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19GeneTests, 43OMIM, 56UMLS
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hepatic lipase deficiency 19 43
deficiency of triacylglycerol lipase 56
lipc deficiency 19
malnutrition 56
hls 19



Related Diseases for Hepatic Lipase Deficiency

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16GeneCards, 17GeneDecks
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Diseases related to hepatic lipase deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 328)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis28.9LPL
2hyperhomocysteinemia27.7APOE
3myocardial infarction27.5LIPC, APOA1, APOE, LCAT
4hypoalphalipoproteinemias27.5LCAT, APOA1, LPL, LIPC
5lipase deficiency combined27.3LIPC, LPL
6uremia27.2LIPC, LPL, LCAT
7hypothyroidism26.7LIPC
8lipodystrophy26.4LPL
9diabetes mellitus26.4LIPC, LPL, APOA1, APOE, LCAT
10hepatitis c26.3LPL
11atherosclerosis26.0LIPC, LPL, APOA1, APOE, LCAT, CES1
12insulin resistance25.9LCAT, APOA1, LPL, LIPC
13obesity23.0LCAT, APOE, APOA1, LPL, LIPC
14lipoprotein lipase deficiency13.3LPL
15familial hypertriglyceridemia13.3LPL
16lipoprotein glomerulopathy13.3APOE
17pick's disease13.3APOE
18acute pancreatitis13.3LPL
19focal segmental glomerulosclerosis13.2LCAT
20thromboembolism13.1APOA1
21gout13.1LCAT
22cholestasis13.0LIPC, LCAT
23cerebral atherosclerosis13.0APOA1
24alcohol abuse13.0LCAT
25alzheimer's disease12.9APOE, CES1
26splenomegaly12.9LCAT
27xanthomatosis12.8APOE, LPL
28dementia12.8APOE, LPL
29hyperlipoproteinemia type v12.7LPL, APOE
30coronary stenosis12.7LIPC, APOA1
31polycystic ovary syndrome12.6APOA1, LIPC
32acute myocardial infarction12.6LCAT, APOA1
33cherubism12.6LCAT, LPL
34arcus senilis12.5APOA1, LCAT
35fish-eye disease12.5APOA1, LCAT
36familial combined hyperlipidemia12.5APOE, APOA1
37norum disease12.5LCAT, APOA1
38hypertension12.5APOE, APOA1
39secondary amyloidosis12.4APOA1, LCAT
40arteriosclerosis12.3LPL, APOA1
41proteinuria12.3APOA1, LCAT
42hyperalphalipoproteinemia12.2LCAT, APOA1, LIPC
43hyperglycemia12.1LPL, LIPC
44alagille syndrome12.1APOA1, LCAT
45abetalipoproteinemia12.1APOA1, APOE, LCAT
46glucose intolerance12.0LIPC, LPL, APOA1
47cadasil12.0APOE, LPL, LIPC
48essential hypertension12.0LCAT, APOA1, LPL
49type 1 diabetes mellitus12.0LIPC, APOA1, LCAT
50amyloidosis11.9LPL, APOA1, APOE

Graphical network of the top 20 diseases related to hepatic lipase deficiency:



Diseases related to hepatic lipase deficiency

Symptoms for Hepatic Lipase Deficiency

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43OMIM
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Clinical features from OMIM:

Drugs & Therapeutics for Hepatic Lipase Deficiency

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5CenterWatch, 38NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for hepatic lipase deficiency

Drug clinical trials:

Search ClinicalTrials for hepatic lipase deficiency

Search NIH Clinical Center for hepatic lipase deficiency

Search CenterWatch for hepatic lipase deficiency

Genetic Tests for Hepatic Lipase Deficiency

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19GeneTests
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Genetic tests related to hepatic lipase deficiency:

id Genetic test Affiliating Genes
1 Hepatic Lipase Deficiency LIPC

Anatomical Context for Hepatic Lipase Deficiency

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29MalaCards
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MalaCards organs/tissues related to hepatic lipase deficiency:

29
Liver, Adrenal gland

Animal Models for Hepatic Lipase Deficiency or affiliated genes

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33MGI, 26inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to hepatic lipase deficiency:

33
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
liver/biliary system phenotype
MP:00053708.0LCAT, APOE, APOA1, LPL

Publications for Hepatic Lipase Deficiency

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47PubMed
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Articles related to hepatic lipase deficiency:

(show all 19)
idTitleAuthorsYearAffiliating Genes
1Hepatic lipase deficiency delays atherosclerosis, myocardial infarction, and cardiac dysfunction and extends lifespan in SR-BI/apolipoprotein E double knockout mice. (16397139)Karackattu S.L.... Krieger M.2006APOE, LIPC
2Effect of fenofibrate on plasma lipoprotein composition and kinetics in patients with complete hepatic lipase deficiency. (16224048)Ruel I.L.... Couture P.2005LIPC
3Evidence that hepatic lipase deficiency in humans is not associated with proatherogenic changes in HDL composition and metabolism. (15175359)Ruel I.L.... Lamarche B.2004LIPC
4Severe hypoalphalipoproteinemia in mice expressing human hepatic lipase deficient in binding to heparan sulfate proteoglycan. (15292235)Brown R.J.... Yao Z.2004LIPC
5Lipoprotein metabolism in subjects with hepatic lipase deficiency. (15045702)Tilly-Kiesi M.... Lichtenstein A.H.2004LIPC
6Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians. (12777476)Ruel I.L.... Lamarche B.2003LIPC
7Atorvastatin in the management of an index patient wi th complete hepatic lipase deficiency. (10208500)Hegele R.A.... Connelly P.W.1999LIPC
8Hepatic lipase deficiency. (9885775)Connelly P.W.... Hegele R.A.1998APOA1, LIPC
9Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene. (9050773)Knudsen P.... Ehnholm C.1997LIPC
10Effects of short-term stanozolol administration on serum lipoproteins in hepatic lipase deficiency. (9284885)Bausserman L.L.... Herbert P.N.1997LPL, LIPC
11Acute dyslipoproteinemia induced by interleukin-2: lecithin:cholesteryl acyltransferase, lipoprotein lipase, and hepatic lipase deficiencies. (9141552)Kwong L.K.... Wilson D.E.1997LPL, LIPC, LCAT
12Hepatic lipase gene therapy in hepatic lipase-deficient mice. Adenovirus-mediated replacement of a lipolytic enzyme to the vascular endothelium. (8609237)Applebaum-Bowden D.... Santamarina-Fojo S.1996CES1, LIPC
13Analysis of protein structure-function in vivo. Adenovirus-mediated transfer of lipase lid mutants in hepatic lipase-deficient mice. (8824281)Kobayashi J.... Santamarina-Fojo S.1996LPL
14Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations. (8123642)Durstenfeld A.... Doolittle M.H.1994LIPC
15Hepatic lipase deficiency. Clinical, biochemical, and molecular genetic characteristics. (8485124)Hegele R.A.... Connelly P.W.1993LIPC
16Beta-VLDL in hepatic lipase deficiency induces apoE-mediated cholesterol ester accumulation in macrophages. (8364012)Huff M.W.... Hegele R.A.1993LIPC
17Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency. (1883393)Hegele R.A.... Connelly P.W.1991LIPC
18Plasma lipoproteins in familial hepatic lipase deficiency. (2297346)Connelly P.W.... Little J.A.1990LIPC
19Lipoprotein metabolism in hepatic lipase deficiency: studies on the turnover of apolipoprotein B and on the effect of hepatic lipase on high density lipoprotein. (3244012)Demant T.... Shepherd J.1988LIPC

Variations for Hepatic Lipase Deficiency

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Expression for genes affiliated with Hepatic Lipase Deficiency

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Hepatic Lipase Deficiency

Pathways for genes affiliated with Hepatic Lipase Deficiency

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50Reactome, 34NCBI BioSystems Database, 27KEGG, 46PharmGKB
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Pathways related to hepatic lipase deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Retinoid metabolism and transport50
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9.7APOA1
2
CDP-diacylglycerol biosynthesis I34
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9.4LIPC, LPL
3
Fatty Acid Beta Oxidation34
9.4LPL, LIPC
4
Glycerolipid metabolism27
9.4LPL, LIPC
5
Statin Pathway, Pharmacodynamics46
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9.1APOE, APOA1
6
Lipoprotein metabolism50
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8.0LCAT, APOE, APOA1, LPL
7
Metabolism50
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7.1LIPC, LPL, APOA1, APOE, LCAT, CES1

Compounds for genes affiliated with Hepatic Lipase Deficiency

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41Novoseek, 11DrugBank, 22HMDB, 55Tocris Bioscience, 46PharmGKB
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Compounds related to hepatic lipase deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 89)
idCompoundScoreTop Affiliating Genes
1cholesteryl linoleate419.7LCAT, CES1
2dopc419.7LIPC, LCAT
3pdpc419.5LCAT, APOA1
4p-nitrophenyl butyrate419.5LPL, LCAT
5plpc419.4APOA1, LCAT
6cholic acid41 11 2211.4CES1, LCAT, LIPC
7torcetrapib41 5510.4LCAT, APOA1
8sodium oleate419.3APOA1, LPL
9stanozolol419.1LIPC, LPL
10campesterol41 2210.1CES1, APOA1, APOE
11glibenclamide41 4610.1APOE, APOA1, LIPC
12stearic acid41 11 2211.1LIPC, CES1, LPL
13trioleoylglycerol419.0LIPC, LPL, APOA1
14Palmitic Acid11 2210.0LIPC, LPL, CES1
15dimyristoylphosphatidylcholine419.0APOE, APOA1, LCAT
16guanidine41 11 2211.0APOE, LCAT, APOA1
17acetaldehyde41 229.9LCAT, APOE, APOA1
18niacin41 119.9CES1, APOA1, LPL
19fenofibrate41 119.9LIPC, LPL, APOA1
20oleic acid41 11 2210.9CES1, LIPC, LPL
21myristic acid41 11 2210.9LPL, LCAT, CES1, LIPC
22pioglitazone41 119.8LPL, LIPC, APOA1
23sodium dodecylsulfate418.8LCAT, APOE, LPL, LIPC
24fluvastatin41 46 1110.8LPL, APOE, APOA1
25guanidine hydrochloride418.7APOE, APOA1, LPL
26pravastatin41 46 11 2211.6LCAT, APOA1, CES1, APOE
27gemfibrozil41 119.5APOE, APOA1, LPL, LIPC
28fatty acid418.5LIPC, LPL, LCAT, CES1
29thyroxine41 229.5APOA1, LPL, LIPC, APOE
30retinyl palmitate41 229.4APOA1, APOE, LCAT, LPL
31alpha tocopherol418.4LPL, APOA1, APOE, LCAT
32indomethacin41 119.4APOE, LPL, CES1, APOA1
33palmitate418.4LCAT, APOE, APOA1, LPL
34tamoxifen46 41 1110.4CES1, APOE, APOA1, LPL
35sterol418.2APOA1, APOE, LCAT, CES1, LIPC
36lovastatin41 46 55 1111.1CES1, APOE, APOA1, LIPC, LPL
37intralipid418.0LCAT, APOA1, LPL, LIPC, APOE
38bezafibrate41 119.0APOA1, LIPC, LPL, APOE, LCAT
39vitamin a41 11 2210.0APOE, APOA1, LPL, LIPC, LCAT
40simvastatin41 46 55 11 2212.0CES1, LPL, LCAT, APOE, APOA1
41probucol41 118.6LCAT, LIPC, CES1, APOE, APOA1, LPL
42cholesterol ester417.6APOE, APOA1, LPL, LIPC, LCAT, CES1
43triacylglycerol417.6CES1, LCAT, APOE, APOA1, LPL, LIPC
44atorvastatin41 46 11 2210.6CES1, LCAT, APOE, APOA1, LPL, LIPC
45phosphatidylcholine417.6LIPC, LPL, APOA1, APOE, LCAT, CES1
46phospholipid417.6APOA1, CES1, LIPC, LCAT, APOE, LPL
47testosterone41 11 229.5APOA1, LPL, LIPC, CES1, APOE, LCAT
48cholesterol41 11 229.5LPL, LCAT, CES1, LIPC, APOE, APOA1
49estrogen417.5LPL, APOE, LCAT, APOA1, CES1, LIPC
50lipid417.5LIPC, CES1, APOE, APOA1, LCAT, LPL

GO Terms for genes affiliated with Hepatic Lipase Deficiency

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15Gene Ontology
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Cellular components related to hepatic lipase deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chylomicronGO:0426279.3APOE, LPL
2very-low-density lipoprotein particleGO:0343618.4APOE, APOA1, LPL
3high-density lipoprotein particleGO:0343648.2LCAT, APOE, APOA1, LIPC
4extracellular spaceGO:0056157.3LIPC, LPL, APOA1, APOE, LCAT

Biological processes related to hepatic lipase deficiency according to GeneCards/GeneDecks:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1chylomicron remnant clearanceGO:0343829.8LIPC, APOE
2low-density lipoprotein particle remodelingGO:0343749.7APOE, LIPC
3triglyceride catabolic processGO:0194339.6LPL, LIPC
4regulation of Cdc42 protein signal transductionGO:0324899.4APOA1, APOE
5peripheral nervous system axon regenerationGO:0140129.4APOE, APOA1
6high-density lipoprotein particle assemblyGO:0343809.4APOE, APOA1
7high-density lipoprotein particle clearanceGO:0343849.4APOA1, APOE
8positive regulation of cholesterol esterificationGO:0108739.4APOE, APOA1
9phospholipid effluxGO:0337009.4APOE, APOA1
10fatty acid biosynthetic processGO:0066339.3LPL, LIPC
11triglyceride metabolic processGO:0066419.3LPL, APOE
12cholesterol transportGO:0303019.3APOA1, LCAT
13cholesterol effluxGO:0333449.2APOE, APOA1
14phosphatidylcholine biosynthetic processGO:0066569.2LCAT, APOA1
15lipoprotein biosynthetic processGO:0421589.0APOA1, APOE, LCAT
16triglyceride homeostasisGO:0703288.9APOA1, LPL, LIPC
17negative regulation of inflammatory responseGO:0507288.8APOE, APOA1
18very-low-density lipoprotein particle remodelingGO:0343728.8LCAT, APOE, LPL, LIPC
19high-density lipoprotein particle remodelingGO:0343758.6LIPC, APOA1, APOE, LCAT
20reverse cholesterol transportGO:0436918.6LIPC, APOA1, APOE, LCAT
21cholesterol homeostasisGO:0426328.5LCAT, APOE, APOA1, LIPC
22cholesterol metabolic processGO:0082038.5LIPC, APOA1, APOE, LCAT
23lipoprotein metabolic processGO:0421578.3LCAT, APOE, APOA1, LPL
24lipid metabolic processGO:0066298.3LPL, APOA1, APOE, LCAT
25small molecule metabolic processGO:0442818.0LCAT, APOE, APOA1, LPL

Molecular functions related to hepatic lipase deficiency according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1phospholipase activityGO:0046209.6LPL, LIPC
2retinyl-palmitate esterase activityGO:0502539.5CES1, LIPC
3apolipoprotein bindingGO:0341859.4LPL, LIPC
4phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.3APOE, APOA1
5cholesterol transporter activityGO:0171279.2APOA1, APOE
6triglyceride lipase activityGO:0048069.1LPL, LIPC
7beta-amyloid bindingGO:0015409.1APOE, APOA1
8heparin bindingGO:0082019.0APOE, LPL, LIPC

Products for genes affiliated with Hepatic Lipase Deficiency

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  • Antibodies
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Sources for Hepatic Lipase Deficiency

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3CDC
13ExPASy
14FMA
21HGMD
22HMDB
23ICD10
24ICD10 via Orphanet
25ICD9CM
27KEGG
31MeSH
32MESH via Orphanet
33MGI
36NCIt
37NDF-RT
40NINDS
41Novoseek
43OMIM
44OMIM via Orphanet
47PubMed
48QIAGEN
53SNOMED-CT via Orphanet
56UMLS
57UMLS via Orphanet
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