MCID: HPT025
MIFTS: 47

Hepatic Lipase Deficiency malady

Genetic diseases (common) category
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Summaries for Hepatic Lipase Deficiency

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Wikipedia:65 Hepatic lipase, also called hepatic triglyceride lipase (HTGL) or LIPC (for \"lipase, hepatic\"), is a... more...

MalaCards based summary: Hepatic Lipase Deficiency is related to hypoalphalipoproteinemia and myocardial infarction, and has symptoms including An important gene associated with Hepatic Lipase Deficiency is LIPC (lipase, hepatic), and among its related pathways are Binding and Uptake of Ligands by Scavenger Receptors and Folate Metabolism. The compounds campesterol and 22r-hydroxycholesterol have been mentioned in the context of this disorder. Affiliated tissues include liver and adrenal gland, and related mouse phenotype integument.

Description from OMIM:46 614025

Aliases & Classifications for Hepatic Lipase Deficiency

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Hepatic Lipase Deficiency, Aliases & Descriptions:

Name: Hepatic Lipase Deficiency 20 22 46 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Hepatic Lipase Deficiency

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Diseases related to Hepatic Lipase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1hypoalphalipoproteinemia30.2APOA1, LIPC, LPL
2myocardial infarction29.9APOE, APOA1, LIPC
3atherosclerosis29.8LPL, LIPC, APOA1, APOE
4hepatitis10.9
5cerebral atherosclerosis10.4APOA1
6familial hypertriglyceridemia10.4LPL
7hyperalphalipoproteinemia10.2LIPC, APOA1
8hmg coa lyase deficiency10.2
9lipase deficiency combined10.2LIPC, LPL
10coronary stenosis10.1APOA1, LIPC
11polycystic ovary syndrome10.0LIPC, APOA1
12familial combined hyperlipidemia10.0APOE, APOA1
13hypobetalipoproteinemia10.0APOE, APOA1
14hyperlipoproteinemia type v10.0APOE, LPL
15arteriosclerosis10.0LPL, APOA1
16xanthomatosis10.0APOE, LPL
17age related macular degeneration10.0LIPC, APOE
18uremia10.0LIPC, LPL
19glucose intolerance9.9LPL, APOA1, LIPC
20fatty liver disease9.9LPL, LIPC, APOA1
21coronary artery anomaly9.9LIPC, APOA1, LPL
22hyperinsulinism9.9APOA1, LIPC, LPL
23chronic kidney failure9.9LPL, LIPC, APOA1
24insulin resistance9.8APOA1, LIPC, LPL
25diabetic nephropathy9.8APOE, APOA1, LIPC
26norum disease9.8APOA1, APOE, LPL
27abetalipoproteinemia9.8LPL, APOA1, APOE
28tangier disease9.8APOA1, LPL, APOE
29amyloidosis9.8APOE, APOA1, LPL
30nephrotic syndrome9.8LPL, APOA1, APOE
31stroke, ischemic9.8APOE, APOA1
32primary hyperoxaluria9.7LIPC, APOA1, APOE
33hypertension9.7LPL, APOE, APOA1
34cerebrovascular disease9.7LIPC, LPL, APOE
35diabetes mellitus9.6LPL, APOA1, APOE
36hyperlipidemia type 39.6APOE, APOA1, LIPC, LPL
37familial hypercholesterolemia9.6LIPC, LPL, APOA1, APOE
38hypertriglyceridemia9.6APOE, APOA1, LIPC, LPL
39familial hyperlipidemia9.6LPL, LIPC, APOA1, APOE
40hypercholesterolemia9.6APOE, APOA1, LIPC, LPL
41vascular disease9.6LIPC, APOE, LPL, APOA1
42type 2 diabetes mellitus9.6LPL, APOE, LIPC, APOA1
43obesity9.6APOA1, LIPC, APOE, LPL

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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Symptoms by clinical synopsis from OMIM:

614025

Clinical features from OMIM:

614025

HPO human phenotypes related to Hepatic Lipase Deficiency:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 eruptive xanthomas HP:0001013
3 angina pectoris HP:0001681

Drugs & Therapeutics for Hepatic Lipase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Hepatic Lipase Deficiency

Search NIH Clinical Center for Hepatic Lipase Deficiency

Genetic Tests for Hepatic Lipase Deficiency

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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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MalaCards organs/tissues related to Hepatic Lipase Deficiency:

32
Liver, Adrenal gland

Animal Models for Hepatic Lipase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Hepatic Lipase Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.0LPL, LIPH, APOA1, APOE

Publications for Hepatic Lipase Deficiency

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Articles related to Hepatic Lipase Deficiency:

(show all 29)
idTitleAuthorsYear
1
Hepatic lipase deficiency in a Middle-Eastern-Arabic male. (22798447)
2010
2
Hepatic lipase deficiency delays atherosclerosis, myocardial infarction, and cardiac dysfunction and extends lifespan in SR-BI/apolipoprotein E double knockout mice. (16397139)
2006
3
Effect of fenofibrate on plasma lipoprotein composition and kinetics in patients with complete hepatic lipase deficiency. (16224048)
2005
4
Plasma metabolism of apoB-containing lipoproteins in patients with hepatic lipase deficiency. (15910863)
2005
5
Evidence that hepatic lipase deficiency in humans is not associated with proatherogenic changes in HDL composition and metabolism. (15175359)
2004
6
Severe hypoalphalipoproteinemia in mice expressing human hepatic lipase deficient in binding to heparan sulfate proteoglycan. (15292235)
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
Hepatic lipase deficiency attenuates mouse ovarian progesterone production leading to decreased ovulation and reduced litter size. (11906928)
2002
10
Hepatic lipase deficiency decreases the selective uptake of HDL-cholesteryl esters in vivo. (10787427)
2000
11
Atorvastatin in the management of an index patient with complete hepatic lipase deficiency. (10208500)
1999
12
Hepatic lipase deficiency. (9885775)
1998
13
Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene. (9050773)
1997
14
Effects of short-term stanozolol administration on serum lipoproteins in hepatic lipase deficiency. (9284885)
1997
15
Hepatic lipase deficiency increases plasma cholesterol but reduces susceptibility to atherosclerosis in apolipoprotein E-deficient mice. (9153204)
1997
16
Acute dyslipoproteinemia induced by interleukin-2: lecithin:cholesteryl acyltransferase, lipoprotein lipase, and hepatic lipase deficiencies. (9141552)
1997
17
Hepatic lipase gene therapy in hepatic lipase-deficient mice. Adenovirus-mediated replacement of a lipolytic enzyme to the vascular endothelium. (8609237)
1996
18
Analysis of protein structure-function in vivo. Adenovirus-mediated transfer of lipase lid mutants in hepatic lipase-deficient mice. (8824281)
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
The molecular basis of hepatic lipase deficiency. (1933710)
1991
23
Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency. (1883393)
1991
24
Plasma lipoproteins in familial hepatic lipase deficiency. (2297346)
1990
25
The rabbit as an animal model of hepatic lipase deficiency. (2930766)
1989
26
Large buoyant LDL-like particles in hepatic lipase deficiency. (2719594)
1989
27
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
28
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
29
Familial hepatic lipase deficiency. (3799360)
1986

Variations for Hepatic Lipase Deficiency

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

64
id Symbol AA change Variation ID SNP ID
1LIPCp.Ser289PheVAR_004209rs121912502
2LIPCp.Thr405MetVAR_004210rs28933094

Clinvar genetic disease variations for Hepatic Lipase Deficiency:

6
id Gene Name Type Significance SNP ID Assembly Location
1LIPCNM_000236.2(LIPC): c.1214C> T (p.Thr405Met)single nucleotide variantPathogenicrs113298164GRCh37Chr 15, 58855748: 58855748
2LIPCNM_000236.2(LIPC): c.866C> T (p.Ser289Phe)single nucleotide variantPathogenicrs121912502GRCh37Chr 15, 58840586: 58840586
3LIPCLIPC, ALA174THRsingle nucleotide variantPathogenic

Expression for genes affiliated with Hepatic Lipase Deficiency

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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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Pathways related to Hepatic Lipase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3APOE, APOA1
2
Show member pathways
Vitamin B12 Metabolism37
9.3APOA1, APOE
3
Show member pathways
9.2LPL, LIPC
4
Show member pathways
phosphatidylglycerol biosynthesis II (non-plastidic)37
CDP-diacylglycerol biosynthesis I37
Triacylglyceride Synthesis37
9.2LPL, LIPC
5
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)37
Fatty Acid Beta Oxidation37
9.2LIPC, LPL
6
Show member pathways
fatty acid beta-oxidation VI (peroxisome)37
9.0LPL, APOA1
7
Show member pathways
8.5LPL, APOA1, APOE
8
Show member pathways
8.1LPL, LIPC, APOA1, APOE
9
Show member pathways
8.1APOE, APOA1, LIPC, LPL
10
Show member pathways
8.1LPL, LIPC, APOA1, APOE

Compounds for genes affiliated with Hepatic Lipase Deficiency

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

(show top 50)    (show all 359)
idCompoundScoreTop Affiliating Genes
1campesterol44 2410.7APOA1, APOE
222r-hydroxycholesterol44 2810.6APOE, APOA1
3stanozolol449.6LPL, LIPC
4dimyristoylphosphatidylcholine449.6APOA1, APOE
57-ketocholesterol44 2410.5APOE, APOA1
6castanospermine449.5LPL, LIPC
7sodium oleate449.4LPL, APOA1
8sele449.4LPL, APOE
9fenofibric acid44 2810.4LPL, APOA1
10stavudine44 1110.3LPL, APOA1
11hind iii449.3LPL, LIPC
12ciprofibrate44 2810.3APOA1, LPL
13glibenclamide44 28 50 6112.3APOE, APOA1, LIPC
14atenolol44 50 28 24 1113.2APOE, APOA1
15sterol449.2APOA1, LIPC, APOE
16TG(16:0/14:0/18:1(9Z))[iso6]249.2LPL, LIPC
17xbai449.2LPL, APOE
18sodium dodecylsulfate449.1APOE, LIPC, LPL
19doxazosin44 1110.0APOA1, LPL
20carbohydrates449.0LIPC, LPL, APOE
21trioleoylglycerol449.0LIPC, LPL, APOA1
22pioglitazone28 44 50 1112.0LPL, LIPC, APOA1
23retinyl palmitate44 249.9APOE, APOA1, LPL
24fluvastatin44 50 28 1111.9APOE, APOA1, LPL
25guanidine hydrochloride448.9LPL, APOE, APOA1
26TG(15:0/16:0/20:3(8Z,11Z,14Z))[iso6]248.9LPL, LIPC
27pravastatin44 50 28 24 1112.9LPL, APOA1, APOE
28alpha tocopherol448.9LPL, APOA1, APOE
29palmitate448.9APOA1, LPL, APOE
30simvastatin44 50 61 28 24 1113.9APOA1, LPL, APOE
31guanine44 24 1110.8LPL, APOE, APOA1
32indomethacin44 28 61 1111.7LPL, APOA1, APOE
33tamoxifen44 50 28 1111.7APOE, LPL, APOA1
34intralipid448.5APOA1, LIPC, LPL, APOE
35probucol44 119.5APOE, LPL, APOA1, LIPC
36gemfibrozil28 44 1110.5LIPC, LPL, APOE, APOA1
37cholesterol ester448.5LPL, APOE, APOA1, LIPC
38bezafibrate44 28 1110.5LIPC, LPL, APOA1, APOE
39fenofibrate44 50 1110.5LIPC, APOA1, APOE, LPL
40triacylglycerol448.5LPL, APOE, APOA1, LIPC
41lovastatin44 50 61 28 1112.5APOA1, APOE, LPL, LIPC
42atorvastatin44 50 28 24 1112.5APOA1, LIPC, LPL, APOE
43thyroxine44 249.5LPL, LIPC, APOA1, APOE
44phosphatidylcholine448.5LPL, APOE, LIPC, APOA1
45vitamin a44 24 1110.5APOA1, APOE, LIPC, LPL
46phospholipid448.5APOE, LIPC, LPL, APOA1
47testosterone44 61 24 1111.4APOE, APOA1, LIPC, LPL
48cholesterol44 28 24 1111.4APOA1, LPL, LIPC, APOE
49estrogen448.3LIPC, LPL, APOE, APOA1
50lipid447.9LIPC, APOE, LPL, LIPH, APOA1

GO Terms for genes affiliated with Hepatic Lipase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:0716829.3APOA1, APOE
2high-density lipoprotein particleGO:0343648.9LIPC, APOA1, APOE
3chylomicronGO:0426278.8LPL, APOE
4very-low-density lipoprotein particleGO:0343618.6LPL, APOA1, APOE
5extracellular spaceGO:0056157.4APOE, APOA1, LIPH, LIPC, LPL

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1chylomicron remnant clearanceGO:0343829.7APOE, LIPC
2regulation of Cdc42 protein signal transductionGO:0324899.6APOA1, APOE
3low-density lipoprotein particle remodelingGO:0343749.6LIPC, APOE
4peripheral nervous system axon regenerationGO:0140129.6APOA1, APOE
5high-density lipoprotein particle assemblyGO:0343809.6APOA1, APOE
6lipoprotein biosynthetic processGO:0421589.6APOA1, APOE
7high-density lipoprotein particle clearanceGO:0343849.6APOE, APOA1
8positive regulation of cholesterol esterificationGO:0108739.5APOA1, APOE
9phospholipid effluxGO:0337009.5APOE, APOA1
10cholesterol effluxGO:0333449.3APOE, APOA1
11negative regulation of inflammatory responseGO:0507289.3APOA1, APOE
12triglyceride catabolic processGO:0194339.3LPL, LIPC
13high-density lipoprotein particle remodelingGO:0343759.2LIPC, APOA1, APOE
14reverse cholesterol transportGO:0436919.2APOE, APOA1, LIPC
15cholesterol homeostasisGO:0426329.2APOE, APOA1, LIPC
16cholesterol metabolic processGO:0082039.2LIPC, APOA1, APOE
17triglyceride metabolic processGO:0066419.0LPL, APOE
18very-low-density lipoprotein particle remodelingGO:0343729.0LPL, LIPC, APOE
19triglyceride homeostasisGO:0703288.9LPL, LIPC, APOA1
20fatty acid biosynthetic processGO:0066338.9LPL, LIPC
21lipoprotein metabolic processGO:0421578.8APOE, APOA1, LPL
22retinoid metabolic processGO:0015238.8LPL, APOA1, APOE
23phototransduction, visible lightGO:0076038.8APOE, APOA1, LPL

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.4APOA1, APOE
2cholesterol transporter activityGO:0171279.4APOE, APOA1
3phospholipid bindingGO:0055439.3APOA1, APOE
4apolipoprotein bindingGO:0341859.2LPL, LIPC
5triglyceride lipase activityGO:0048069.1LPL, LIPC
6beta-amyloid bindingGO:0015409.0APOA1, APOE
7phospholipase activityGO:0046208.9LPL, LIPC, LIPH
8heparin bindingGO:0082018.3APOE, LIPH, LIPC, LPL

Products for genes affiliated with Hepatic Lipase Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Hepatic Lipase Deficiency

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet