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MCID: HPT025
MIFTS: 38

Hepatic Lipase Deficiency malady
1 symptom, 7 genes, 3 tissues, 74 related diseases, clinical trials, genetic tests.

Summaries for Hepatic Lipase Deficiency

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64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Hepatic lipase is a form of lipase. It is expressed in the liver and adrenal glands. more...

MalaCards: Hepatic Lipase Deficiency is related to lipoprotein lipase deficiency and atherosclerosis. An important gene associated with Hepatic Lipase Deficiency is LIPC (lipase, hepatic), and among its related pathways are CDP-diacylglycerol biosynthesis I and Fatty Acid Beta Oxidation. The compounds palmitate and guanidine hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include liver, adrenal gland and endothelial, and related mouse phenotype liver/biliary system.

Description from OMIM:47 614025

Aliases & Classifications for Hepatic Lipase Deficiency

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20GeneTests, 22GTR, 47OMIM, 61UMLS
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Aliases & Descriptions:

hepatic lipase deficiency 20 22 47 61


Related Diseases for Hepatic Lipase Deficiency

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17GeneCards, 18GeneDecks
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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 74)
idRelated DiseaseScoreTop Affiliating Genes
1lipoprotein lipase deficiency30.8LPL
2atherosclerosis30.4CES1, LIPC, LPL, APOE, APOA1, LCAT
3hypoalphalipoproteinemia30.2LCAT, APOA1, LPL, LIPC
4apo a-i deficiency10.4
5decr deficiency10.3
6familial lipoprotein lipase deficiency10.1
7hmg coa lyase deficiency10.1
8hypothyroidism10.0LIPC
9familial hypertriglyceridemia10.0LPL
10lipodystrophy10.0LPL
11acute pancreatitis10.0LPL
12hepatitis c10.0LPL
13thromboembolism10.0APOA1
14cerebral atherosclerosis10.0APOA1
15pancreatitis10.0LPL
16cholestasis10.0LIPC, LCAT
17gout10.0LCAT
18lipoprotein glomerulopathy10.0APOE
19alcohol abuse10.0LCAT
20pick's disease10.0APOE
21lipase deficiency combined10.0LPL, LIPC
22hyperhomocysteinemia10.0APOE
23splenomegaly10.0LCAT
24coronary stenosis10.0LIPC, APOA1
25polycystic ovary syndrome10.0LIPC, APOA1
26acute myocardial infarction10.0APOA1, LCAT
27fish-eye disease10.0LCAT, APOA1
28arcus senilis10.0LCAT, APOA1
29complete lcat deficiency10.0APOA1, LCAT
30amyloidosis, secondary10.0APOA1, LCAT
31arteriosclerosis10.0LPL, APOA1
32proteinuria10.0APOA1, LCAT
33uremia10.0LIPC, LPL, LCAT
34alzheimer's disease10.0CES1, APOE
35xanthomatosis10.0APOE, LPL
36dementia10.0LPL, APOE
37hyperlipoproteinemia type v10.0APOE, LPL
38hyperalphalipoproteinemia10.0LIPC, APOA1, LCAT
39familial combined hyperlipidemia10.0APOA1, APOE
40alagille syndrome10.0LCAT, APOA1
41glucose intolerance10.0APOA1, LPL, LIPC
42essential hypertension10.0LPL, APOA1, LCAT
43hyperglycemia10.0LIPC, LPL
44type 1 diabetes10.0LIPC, APOA1, LCAT
45ischemic heart disease10.0LIPC, LPL, APOA1
46galactosemia10.0LIPC, APOA1, LCAT
47metabolic syndrome x10.0LCAT, APOA1, LPL
48hypobetalipoproteinemia10.0APOE, APOA1, LCAT
49hyperinsulinism10.0LIPC, LPL, APOA1, LCAT
50diabetic nephropathy10.0LIPC, APOE, APOA1

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



Diseases related to hepatic lipase deficiency

Clinical Features for Hepatic Lipase Deficiency

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47OMIM
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Clinical features from OMIM:

614025

Clinical synopsis from OMIM:

614025

Drugs & Therapeutics for Hepatic Lipase Deficiency

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5CenterWatch, 42NIH 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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20GeneTests, 22GTR
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Genetic tests related to Hepatic Lipase Deficiency:

id Genetic test Affiliating Genes
1 Hepatic Lipase Deficiency20 22 LIPC

Anatomical Context for Hepatic Lipase Deficiency

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33MalaCards
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MalaCards organs/tissues related to Hepatic Lipase Deficiency:

33
Liver, Adrenal gland, Endothelial

Animal Models for Hepatic Lipase Deficiency or affiliated genes

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37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Hepatic Lipase Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
liver/biliary system phenotype
MP:00053708.0LPL, APOE, APOA1, LCAT

Publications for Hepatic Lipase Deficiency

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51PubMed
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Articles related to Hepatic Lipase Deficiency:

(show all 34)
idTitleAuthorsYear
1
Hepatic cholesteryl ester accumulation in lysosomal acid lipase deficiency: non-invasive identification and treatment monitoring by magnetic resonance. (23624251)
2013
2
Hepatic lipase deficiency in a Middle-Eastern-Arabic male. (22798447)
2010
3
Hepatic lipase deficiency delays atherosclerosis, myocardial infarction, and cardiac dysfunction and extends lifespan in SR-BI/apolipoprotein E double knockout mice. (16397139)
2006
4
Effect of fenofibrate on plasma lipoprotein composition and kinetics in patients with complete hepatic lipase deficiency. (16224048)
2005
5
Plasma metabolism of apoB-containing lipoproteins in patients with hepatic lipase deficiency. (15910863)
2005
6
Evidence that hepatic lipase deficiency in humans is not associated with proatherogenic changes in HDL composition and metabolism. (15175359)
2004
7
Lipoprotein metabolism in subjects with hepatic lipase deficiency. (15045702)
2004
8
Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians. (12777476)
2003
9
Deficiency of choresteryl ester transfer protein and gene polymorphisms of lipoprotein lipase and hepatic lipase are not associated with longevity. (12601526)
2003
10
Hepatic lipase deficiency attenuates mouse ovarian progesterone production leading to decreased ovulation and reduced litter size. (11906928)
2002
11
Differential effect of combined lipase deficiency (cld/cld) on human hepatic lipase and lipoprotein lipase secretion. (11714855)
2001
12
Hepatic lipase deficiency decreases the selective uptake of HDL-cholesteryl esters in vivo. (10787427)
2000
13
Atorvastatin in the management of an index patient with complete hepatic lipase deficiency. (10208500)
1999
14
Hepatic lipase deficiency. (9885775)
1998
15
Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene. (9050773)
1997
16
Effects of short-term stanozolol administration on serum lipoproteins in hepatic lipase deficiency. (9284885)
1997
17
Hepatic lipase deficiency increases plasma cholesterol but reduces susceptibility to atherosclerosis in apolipoprotein E-deficient mice. (9153204)
1997
18
A novel A-->G mutation in intron I of the hepatic lipase gene leads to alternative splicing resulting in enzyme deficiency. (8808756)
1996
19
Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations. (8123642)
1994
20
Beta-VLDL in hepatic lipase deficiency induces apoE-mediated cholesterol ester accumulation in macrophages. (8364012)
1993
21
Hepatic lipase deficiency. Clinical, biochemical, and molecular genetic characteristics. (8485124)
1993
22
A hepatic lipase gene mutation associated with heritable lipolytic deficiency. (1671786)
1991
23
The molecular basis of hepatic lipase deficiency. (1933710)
1991
24
Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency. (1883393)
1991
25
Plasma lipoproteins in familial hepatic lipase deficiency. (2297346)
1990
26
The rabbit as an animal model of hepatic lipase deficiency. (2930766)
1989
27
Large buoyant LDL-like particles in hepatic lipase deficiency. (2719594)
1989
28
The beta very low density lipoprotein present in hepatic lipase deficiency competitively inhibits low density lipoprotein binding to fibroblasts and stimulates fibroblast acyl-CoA:cholesterol acyltransferase. (3170542)
1988
29
Lipoprotein metabolism in hepatic lipase deficiency: studies on the turnover of apolipoprotein B and on the effect of hepatic lipase on high density lipoprotein. (3244012)
1988
30
Familial hepatic lipase deficiency. (3799360)
1986
31
Primary type 1 hyperlipoproteinemia: significance of lipoprotein lipase and hepatic triglyceride lipase activity in heterozygotes of patients with familial lipoprotein lipase deficiency. (6827414)
1983
32
Familial lipoprotein lipase and apolipoprotein C-II deficiency. Lipoprotein and apoprotein analysis, adipose tissue and hepatic lipoprotein lipase levels in seven patients and their first degree relatives. (6651913)
1983
33
Effects of heparin infusion on plasma lipoproteins in subjects with lipoprotein lipase deficiency. Evidence for a role of hepatic endothelial lipase in the metabolism of high-density lipoprotein subfractions in man. (7160473)
1982
34
Selective deficiency of hepatic triglyceride lipase and hypertriglyceridaemia in kwashiorkor. (228697)
1979

Genetic Variations for Hepatic Lipase Deficiency

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63UniProtKB/Swiss-Prot
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Genetic disease variations for Hepatic Lipase Deficiency:

63
id Symbol AA change Variation SNP ID
1LIPCp.Ser289PheVAR_004209rs121912502
2LIPCp.Thr405MetVAR_004210rs28933094

Expression for genes affiliated with Hepatic Lipase Deficiency

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

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

Pathways for genes affiliated with Hepatic Lipase Deficiency

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38NCBI BioSystems Database, 30KEGG, 54Reactome, 50PharmGKB
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Pathways related to Hepatic Lipase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
CDP-diacylglycerol biosynthesis I38
Hide members
9.5LPL, LIPC
2
Fatty Acid Beta Oxidation38
9.5LIPC, LPL
3
Glycerolipid metabolism30
9.5LIPC, LPL
4
Scavenging by Class A Receptors54
9.1APOE, APOA1
5
Visual phototransduction54
Hide members
8.5LPL, APOE, APOA1
6
Lipoprotein metabolism54
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8.0LCAT, APOA1, APOE, LPL
7
Metabolism54
Hide members
7.6LCAT, APOA1, APOE, LPL, LIPC
8
Statin Pathway, Pharmacodynamics50
Hide members
7.6LIPC, LPL, APOE, APOA1, LCAT

Compounds for genes affiliated with Hepatic Lipase Deficiency

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45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 60Tocris Bioscience
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Compounds related to Hepatic Lipase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 90)
idCompoundScoreTop Affiliating Genes
1palmitate4510.3LCAT
2guanidine hydrochloride459.9APOA1
3dopc459.8LCAT, LIPC
4cholesteryl linoleate459.7LCAT, CES1
5alpha tocopherol459.7LPL, LCAT
6pdpc459.5APOA1, LCAT
7p-nitrophenyl butyrate459.5LCAT, LPL
8cholic acid45 29 11 2412.5CES1, LIPC, LCAT
9plpc459.4LCAT, APOA1
10torcetrapib459.4LCAT, APOA1
11cholesteryl oleate459.4CES1, LPL
12stanozolol459.4LPL, LIPC
13sodium oleate459.3APOA1, LPL
14stearic acid45 11 2411.1LPL, LIPC, CES1
15trioleoylglycerol459.1APOA1, LPL, LIPC
16campesterol45 2410.1APOA1, APOE, CES1
17glibenclamide45 29 50 6012.0APOA1, APOE, LIPC
18palmitic acid29 11 2411.0CES1, LIPC, LPL
19dimyristoylphosphatidylcholine459.0LCAT, APOA1, APOE
20guanidine45 11 2411.0LCAT, APOA1, APOE
21fenofibrate45 50 1110.9LIPC, LPL, APOA1
22acetaldehyde45 29 2410.9LCAT, APOA1, APOE
23niacin45 119.9APOA1, LPL, CES1
24myristic acid45 11 2410.9LCAT, LPL, LIPC, CES1
25sodium dodecylsulfate458.8LCAT, APOE, LPL, LIPC
26pioglitazone45 50 29 1111.8LIPC, LPL, APOA1
27fluvastatin45 50 29 1111.8LPL, APOE, APOA1
28oleic acid45 29 11 2411.7CES1, LIPC, LPL
29gemfibrozil45 29 1110.6LIPC, LPL, APOE, APOA1
30pravastatin45 50 29 11 2412.5LCAT, APOA1, APOE, CES1
31thyroxine45 249.5LIPC, LPL, APOE, APOA1
32retinyl palmitate45 249.4LCAT, APOA1, APOE, LPL
33indomethacin45 60 29 1111.4CES1, LPL, APOE, APOA1
34tamoxifen45 50 29 1111.3APOA1, APOE, LPL, CES1
35sterol458.2LCAT, APOA1, APOE, LIPC, CES1
36lovastatin45 50 60 29 1112.1APOA1, APOE, LPL, LIPC, CES1
37intralipid458.1LCAT, APOA1, APOE, LPL, LIPC
38bezafibrate45 29 1110.1LCAT, APOA1, APOE, LPL, LIPC
39vitamin a45 11 2410.0LCAT, APOA1, APOE, LPL, LIPC
40simvastatin45 50 60 29 11 2413.0LCAT, APOA1, APOE, LPL, CES1
41cholesterol ester457.6CES1, LCAT, APOA1, APOE, LPL, LIPC
42probucol45 118.6LCAT, APOA1, APOE, LPL, LIPC, CES1
43triacylglycerol457.6LCAT, APOA1, APOE, LPL, LIPC, CES1
44atorvastatin45 50 29 11 2411.6LCAT, APOA1, APOE, LPL, LIPC, CES1
45phosphatidylcholine457.6LCAT, APOA1, APOE, LPL, LIPC, CES1
46phospholipid457.6LCAT, APOA1, APOE, LPL, LIPC, CES1
47testosterone45 60 11 2410.6LCAT, APOA1, APOE, LPL, LIPC, CES1
48cholesterol45 29 11 2410.6LCAT, APOA1, APOE, LPL, LIPC, CES1
49estrogen457.5LCAT, APOA1, APOE, LPL, LIPC, CES1
50lipid457.2LCAT, APOA1, APOE, LPL, LIPC, LIPH

GO Terms for genes affiliated with Hepatic Lipase Deficiency

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16Gene Ontology
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Cellular components related to Hepatic Lipase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:0716829.1APOE, APOA1
2chylomicronGO:0426279.0LPL, APOE
3very-low-density lipoprotein particleGO:0343618.4APOA1, APOE, LPL
4high-density lipoprotein particleGO:0343648.3LIPC, APOE, APOA1, LCAT
5extracellular spaceGO:0056157.2LCAT, APOA1, APOE, LPL, LIPC, LIPH

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1chylomicron remnant clearanceGO:0343829.8APOE, LIPC
2low-density lipoprotein particle remodelingGO:0343749.8APOE, LIPC
3triglyceride catabolic processGO:0194339.6LIPC, LPL
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:0108739.4APOA1, APOE
9phospholipid effluxGO:0337009.3APOE, APOA1
10cholesterol transportGO:0303019.3APOA1, LCAT
11triglyceride metabolic processGO:0066419.2LPL, APOE
12cholesterol effluxGO:0333449.2APOE, APOA1
13fatty acid biosynthetic processGO:0066339.2LIPC, LPL
14phosphatidylcholine biosynthetic processGO:0066569.1LCAT, APOA1
15negative regulation of inflammatory responseGO:0507289.1APOE, APOA1
16triglyceride homeostasisGO:0703289.0LIPC, LPL, APOA1
17lipoprotein biosynthetic processGO:0421589.0LCAT, APOA1, APOE
18retinoid metabolic processGO:0015238.8LPL, APOE, APOA1
19very-low-density lipoprotein particle remodelingGO:0343728.8LIPC, LPL, APOE, LCAT
20phototransduction, visible lightGO:0076038.7LPL, APOE, APOA1
21high-density lipoprotein particle remodelingGO:0343758.6LCAT, APOA1, APOE, LIPC
22reverse cholesterol transportGO:0436918.6LCAT, APOA1, APOE, LIPC
23cholesterol homeostasisGO:0426328.6LIPC, APOE, APOA1, LCAT
24cholesterol metabolic processGO:0082038.6LCAT, APOA1, APOE, LIPC
25lipoprotein metabolic processGO:0421578.3LPL, APOE, APOA1, LCAT

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein bindingGO:0341859.4LIPC, LPL
2phospholipase activityGO:0046209.2LIPH, LIPC, LPL
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.2APOA1, APOE
4triglyceride lipase activityGO:0048069.2LIPC, LPL
5cholesterol transporter activityGO:0171279.1APOE, APOA1
6beta-amyloid bindingGO:0015409.1APOE, APOA1
7heparin bindingGO:0082018.7LIPH, LIPC, LPL, APOE

Products for genes affiliated with Hepatic Lipase Deficiency

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Sources for Hepatic Lipase Deficiency

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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
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