MCID: HPT025
MIFTS: 51

Hepatic Lipase Deficiency malady

Genetic diseases (common) category

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, also known as lipase, hepatic, is related to atherosclerosis and hypoalphalipoproteinemia, and has symptoms including autosomal recessive inheritance, eruptive xanthomas and angina pectoris. An important gene associated with Hepatic Lipase Deficiency is LIPC (lipase, hepatic), and among its related pathways are Folate Metabolism and Binding and Uptake of Ligands by Scavenger Receptors. 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:47 614025

Aliases & Classifications for Hepatic Lipase Deficiency

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Hepatic Lipase Deficiency, Aliases & Descriptions:

Name: Hepatic Lipase Deficiency 47 11 62
 
Lipase, Hepatic 11 22 24


Classifications:

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


External Ids:

OMIM47 614025

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 42)
idRelated DiseaseScoreTop Affiliating Genes
1atherosclerosis30.4LPL, LIPC, APOA1, APOE
2hypoalphalipoproteinemia30.2APOA1, LIPC, LPL
3myocardial infarction30.2APOE, APOA1, LIPC
4hepatitis10.9
5osteoarthritis10.1
6cerebral atherosclerosis10.0APOA1
7hypertriglyceridemia10.0LPL
8hyperalphalipoproteinemia10.0LIPC, APOA1
9lipase deficiency, combined10.0LIPC, LPL
10coronary stenosis10.0APOA1, LIPC
11polycystic ovary syndrome10.0LIPC, APOA1
12hyperlipidemia, familial combined10.0APOE, APOA1
13hypobetalipoproteinemia10.0APOE, APOA1
14hyperchylomicronemia, late-onset10.0APOE, LPL
15arteriosclerosis10.0LPL, APOA1
16xanthomatosis10.0APOE, LPL
17macular degeneration, age-related, 110.0LIPC, APOE
18uremia10.0LIPC, LPL
19glucose intolerance10.0LPL, APOA1, LIPC
20fatty liver disease10.0LPL, LIPC, APOA1
21coronary artery disease10.0LIPC, APOA1, LPL
22hyperinsulinism10.0APOA1, LIPC, LPL
23chronic kidney failure10.0LPL, LIPC, APOA1
24diabetes mellitus, noninsulin-dependent10.0APOA1, LIPC, LPL
25microvascular complications of diabetes 310.0APOE, APOA1, LIPC
26norum disease10.0APOA1, APOE, LPL
27abetalipoproteinemia10.0LPL, APOA1, APOE
28tangier disease10.0APOA1, LPL, APOE
29cerebrovascular disease10.0LPL, APOA1, APOE
30amyloidosis10.0APOE, APOA1, LPL
31nephrotic syndrome10.0LPL, APOA1, APOE
32kidney disease10.0APOA1, APOE, LPL
33stroke, ischemic10.0APOE, APOA1
34primary hyperoxaluria10.0LIPC, APOA1, APOE
35hypertension, essential10.0LPL, APOE, APOA1
36diabetes mellitus, insulin-dependent9.9LPL, APOA1, APOE
37hyperlipidemia type 39.9APOE, APOA1, LIPC, LPL
38lipid metabolism disorder9.9LPL, APOE, LIPC, APOA1
39familial hyperlipidemia9.9LPL, LIPC, APOA1, APOE
40hypercholesterolemia, familial9.9APOE, APOA1, LIPC, LPL
41vascular disease9.9LIPC, APOE, LPL, APOA1
42obesity9.9APOA1, 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 Deficiency22 24 LIPC

Anatomical Context for Hepatic Lipase Deficiency

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MalaCards organs/tissues related to Hepatic Lipase Deficiency:

33
Liver, Adrenal gland

Animal Models for Hepatic Lipase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Hepatic Lipase Deficiency:

37
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:

7
id Gene Variation 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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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
Vitamin B12 Metabolism38
9.3APOE, APOA1
2
Show member pathways
9.3APOE, APOA1
3
Show member pathways
phosphatidylglycerol biosynthesis II (non-plastidic)38
CDP-diacylglycerol biosynthesis I38
Triacylglyceride Synthesis38
9.2LIPC, LPL
4
Show member pathways
9.2LIPC, LPL
5
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)38
Fatty Acid Beta Oxidation38
9.2LIPC, LPL
6
Show member pathways
fatty acid beta-oxidation VI (peroxisome)38
9.0LPL, APOA1
7
Show member pathways
8.5APOE, APOA1, LPL
8
Show member pathways
8.1LPL, LIPC, APOA1, APOE
9
Show member pathways
8.1LPL, LIPC, APOA1, APOE
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
1campesterol45 2610.7APOA1, APOE
222r-hydroxycholesterol45 3010.6APOE, APOA1
3stanozolol459.6LPL, LIPC
4dimyristoylphosphatidylcholine459.6APOA1, APOE
57-ketocholesterol45 2610.5APOE, APOA1
6castanospermine459.5LPL, LIPC
7sodium oleate459.4LPL, APOA1
8sele459.4LPL, APOE
9fenofibric acid45 3010.4LPL, APOA1
10stavudine45 1310.3LPL, APOA1
11hind iii459.3LPL, LIPC
12ciprofibrate45 3010.3APOA1, LPL
13glibenclamide45 30 51 6112.3APOE, APOA1, LIPC
14atenolol45 51 30 26 1313.2APOE, APOA1
15sterol459.2APOA1, LIPC, APOE
16TG(18:1(11Z)/18:0/18:2(9Z,12Z))[iso6]269.2LPL, LIPC
17xbai459.2LPL, APOE
18sodium dodecylsulfate459.1APOE, LIPC, LPL
19doxazosin45 1310.0APOA1, LPL
20carbohydrates459.0LIPC, LPL, APOE
21trioleoylglycerol459.0LIPC, LPL, APOA1
22pioglitazone30 45 51 1312.0LPL, LIPC, APOA1
23retinyl palmitate45 269.9APOE, APOA1, LPL
24fluvastatin45 51 30 1311.9APOE, APOA1, LPL
25guanidine hydrochloride458.9LPL, APOE, APOA1
26TG(15:0/18:1(9Z)/18:1(9Z))[iso3]268.9LPL, LIPC
27pravastatin45 51 30 26 1312.9LPL, APOA1, APOE
28alpha tocopherol458.9LPL, APOA1, APOE
29palmitate458.9APOA1, LPL, APOE
30simvastatin45 51 61 30 26 1313.9APOA1, LPL, APOE
31guanine45 26 1310.8LPL, APOE, APOA1
32indomethacin45 30 61 1311.7LPL, APOA1, APOE
33tamoxifen45 51 30 1311.7APOE, LPL, APOA1
34intralipid458.5APOA1, LIPC, LPL, APOE
35probucol45 139.5APOE, LPL, APOA1, LIPC
36gemfibrozil30 45 1310.5LIPC, LPL, APOE, APOA1
37cholesterol ester458.5LPL, APOE, APOA1, LIPC
38bezafibrate45 30 1310.5LIPC, LPL, APOA1, APOE
39fenofibrate45 51 1310.5LIPC, APOA1, APOE, LPL
40triacylglycerol458.5LPL, APOE, APOA1, LIPC
41lovastatin45 51 61 30 1312.5APOA1, APOE, LPL, LIPC
42atorvastatin45 51 30 26 1312.5APOA1, LIPC, LPL, APOE
43thyroxine45 269.5LPL, LIPC, APOA1, APOE
44phosphatidylcholine458.5LPL, APOE, LIPC, APOA1
45vitamin a45 26 1310.5APOA1, APOE, LIPC, LPL
46phospholipid458.5APOE, LIPC, LPL, APOA1
47testosterone45 61 26 1311.4APOE, APOA1, LIPC, LPL
48cholesterol45 30 26 1311.4APOA1, LPL, LIPC, APOE
49estrogen458.3LIPC, LPL, APOE, APOA1
50lipid457.9LIPC, 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:00716829.3APOA1, APOE
2high-density lipoprotein particleGO:00343648.9APOE, APOA1, LIPC
3chylomicronGO:00426278.8LPL, APOE
4very-low-density lipoprotein particleGO:00343618.6APOE, LPL, APOA1
5extracellular spaceGO:00056157.4LPL, APOE, APOA1, LIPH, LIPC

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1chylomicron remnant clearanceGO:00343829.7APOE, LIPC
2regulation of Cdc42 protein signal transductionGO:00324899.6APOE, APOA1
3low-density lipoprotein particle remodelingGO:00343749.6APOE, LIPC
4high-density lipoprotein particle assemblyGO:00343809.6APOE, APOA1
5peripheral nervous system axon regenerationGO:00140129.6APOA1, APOE
6lipoprotein biosynthetic processGO:00421589.6APOE, APOA1
7high-density lipoprotein particle clearanceGO:00343849.6APOE, APOA1
8positive regulation of cholesterol esterificationGO:00108739.5APOE, APOA1
9phospholipid effluxGO:00337009.5APOA1, APOE
10cholesterol effluxGO:00333449.3APOA1, APOE
11negative regulation of inflammatory responseGO:00507289.3APOA1, APOE
12triglyceride catabolic processGO:00194339.3LIPC, LPL
13high-density lipoprotein particle remodelingGO:00343759.2LIPC, APOA1, APOE
14reverse cholesterol transportGO:00436919.2APOA1, LIPC, APOE
15cholesterol homeostasisGO:00426329.2LIPC, APOA1, APOE
16cholesterol metabolic processGO:00082039.2APOE, LIPC, APOA1
17triglyceride metabolic processGO:00066419.0APOE, LPL
18very-low-density lipoprotein particle remodelingGO:00343729.0APOE, LPL, LIPC
19triglyceride homeostasisGO:00703288.9APOA1, LIPC, LPL
20fatty acid biosynthetic processGO:00066338.9LIPC, LPL
21lipoprotein metabolic processGO:00421578.8APOE, APOA1, LPL
22retinoid metabolic processGO:00015238.8APOA1, APOE, LPL
23phototransduction, visible lightGO:00076038.8LPL, APOA1, APOE

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.4APOA1, APOE
2cholesterol transporter activityGO:00171279.4APOE, APOA1
3phospholipid bindingGO:00055439.3APOA1, APOE
4apolipoprotein bindingGO:00341859.2LIPC, LPL
5triglyceride lipase activityGO:00048069.1LIPC, LPL
6beta-amyloid bindingGO:00015409.0APOE, APOA1
7phospholipase activityGO:00046208.9LPL, LIPC, LIPH
8heparin bindingGO:00082018.3LPL, APOE, LIPH, LIPC

Products for genes affiliated with Hepatic Lipase Deficiency

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Sources for Hepatic Lipase Deficiency

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet