MCID: HPT025
MIFTS: 45

Hepatic Lipase Deficiency malady

Genetic diseases (common) category

Aliases & Classifications for Hepatic Lipase Deficiency

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Aliases & Descriptions for Hepatic Lipase Deficiency:

Name: Hepatic Lipase Deficiency 49 11 65 67
Lipase, Hepatic 11 22 24
Lipc Deficiency 22
 
Hl Deficiency 67
Hls 22


Classifications:



External Ids:

OMIM49 614025
MedGen34 C3151466
MeSH36 D008052

Summaries for Hepatic Lipase Deficiency

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UniProtKB/Swiss-Prot:67 Hepatic lipase deficiency: A disorder characterized by elevated levels of beta-migrating very low density lipoproteins, and abnormally triglyceride-rich low and high density lipoproteins.

MalaCards based summary: Hepatic Lipase Deficiency, also known as lipase, hepatic, is related to hypoalphalipoproteinemia and cerebrum cancer, 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 Mitochondrial LC-Fatty Acid Beta-Oxidation and PPAR signaling pathway. Affiliated tissues include liver and adrenal gland, and related mouse phenotype liver/biliary system.

Wikipedia:68 Hepatic lipase, also called hepatic triglyceride lipase (HTGL) or LIPC (for \"lipase, hepatic\"), is a... more...

Description from OMIM:49 614025

Related Diseases for Hepatic Lipase Deficiency

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

(show top 50)    (show all 175)
idRelated DiseaseScoreTop Affiliating Genes
1hypoalphalipoproteinemia29.9APOA1, APOE, LIPC, LPL
2cerebrum cancer29.7APOA1, APOE, LPL
3coronary artery disease29.4APOA1, APOE, LIPC, LPL
4diabetes mellitus, noninsulin-dependent28.7APOA1, APOE, HES1, LIPC, LIPH, LPL
5hepatitis10.9
6hodgkin lymphoma10.5
7burkitt lymphoma10.5
8lymphosarcoma10.5
9adult lymphoma10.5
10hodgkin's granuloma10.4
11hodgkin's paragranuloma10.4
12hypersensitivity reaction type iv disease10.4
13lymphatic system cancer10.4
14lymphatic system disease10.4
15lymphatic neoplasm10.4
16primary malignant lymphoma10.4
17atherosclerosis10.3
18gamma chain deficiency10.3
19choriocarcinoma10.2
20myocardial infarction10.2
21hmg-coa lyase deficiency10.2
22glucose intolerance10.2
23spondylometaphyseal dysplasia, megarbane-dagher-melike type10.2LIPC, LPL
24glomerulonephritis10.1
25leukemia10.1
26heart lymphoma10.1
27gestational choriocarcinoma10.1
28heart cancer10.1
29heart tumor10.1
30adult heart tumor10.1
31lipase deficiency, combined10.1
32arsacs10.1APOE, LPL
33glucocorticoid therapy, response to10.1
34coronary heart disease 810.1
35galactosemia10.1
36multiple myeloma10.1
37mucolipidosis ii alpha/beta10.1
38coronary heart disease 410.1
39pelviureteric junction obstruction10.1
40hematologic cancer10.1
41pernicious anemia10.1
42farmer's lung10.1
43central nervous system lymphoma10.1
44proliferative glomerulonephritis10.1
45rubella10.1
46gastrointestinal lymphoma10.1
47autonomic nervous system disease10.1
48autonomic nervous system neoplasm10.1
49central nervous system cancer10.1
50congenital heart disease10.1

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1National Lysosomal Acid Lipase Deficiency StudyRecruitingNCT02372513
2Novel Association of Cholesterol Ester Storage Disease Due to Lysosomal Acid Lipase Deficiency and Non-Alcoholic Fatty Liver Disease: A Prospective Clinical StudyNot yet recruitingNCT01791452

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.6APOA1, APOE, HES1, LPL, PNLIP

Publications for Hepatic Lipase Deficiency

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Articles related to Hepatic Lipase Deficiency:

(show all 29)
idTitleAuthorsYear
1
Hepatic lipase deficiency produces glucose intolerance, inflammation and hepatic steatosis. (26423094)
2015
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
Severe hypoalphalipoproteinemia in mice expressing human hepatic lipase deficient in binding to heparan sulfate proteoglycan. (15292235)
2004
8
Lipoprotein metabolism in subjects with hepatic lipase deficiency. (15045702)
2004
9
Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians. (12777476)
2003
10
Hepatic lipase deficiency attenuates mouse ovarian progesterone production leading to decreased ovulation and reduced litter size. (11906928)
2002
11
Hepatic lipase deficiency decreases the selective uptake of HDL-cholesteryl esters in vivo. (10787427)
2000
12
Atorvastatin in the management of an index patient with complete hepatic lipase deficiency. (10208500)
1999
13
Hepatic lipase deficiency. (9885775)
1998
14
Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene. (9050773)
1997
15
Effects of short-term stanozolol administration on serum lipoproteins in hepatic lipase deficiency. (9284885)
1997
16
Hepatic lipase deficiency increases plasma cholesterol but reduces susceptibility to atherosclerosis in apolipoprotein E-deficient mice. (9153204)
1997
17
Acute dyslipoproteinemia induced by interleukin-2: lecithin:cholesteryl acyltransferase, lipoprotein lipase, and hepatic lipase deficiencies. (9141552)
1997
18
Hepatic lipase gene therapy in hepatic lipase-deficient mice. Adenovirus-mediated replacement of a lipolytic enzyme to the vascular endothelium. (8609237)
1996
19
Analysis of protein structure-function in vivo. Adenovirus-mediated transfer of lipase lid mutants in hepatic lipase-deficient mice. (8824281)
1996
20
Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations. (8123642)
1994
21
Beta-VLDL in hepatic lipase deficiency induces apoE-mediated cholesterol ester accumulation in macrophages. (8364012)
1993
22
Hepatic lipase deficiency. Clinical, biochemical, and molecular genetic characteristics. (8485124)
1993
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

Variations for Hepatic Lipase Deficiency

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

67
id Symbol AA change Variation ID SNP ID
1LIPCp.Ser289PheVAR_004209rs121912502
2LIPCp.Thr405MetVAR_004210rs28933094

Clinvar genetic disease variations for Hepatic Lipase Deficiency:

5
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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GO Terms for genes affiliated with Hepatic Lipase Deficiency

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Cellular components related to Hepatic Lipase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endocytic vesicle lumenGO:007168210.0APOA1, APOE
2extracellular vesicleGO:19035619.6APOA1, APOE
3high-density lipoprotein particleGO:00343649.6APOA1, APOE, LIPC
4chylomicronGO:00426279.4APOA1, APOE, LPL
5very-low-density lipoprotein particleGO:00343619.4APOA1, APOE, LPL
6extracellular spaceGO:00056158.0APOA1, APOE, LIPC, LIPH, LPL
7extracellular regionGO:00055766.9APOA1, APOE, LIPC, LIPH, LPL, PNLIP

Biological processes related to Hepatic Lipase Deficiency according to GeneCards Suite gene sharing:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1low-density lipoprotein particle remodelingGO:003437410.2APOE, LIPC
2chylomicron remnant clearanceGO:003438210.2APOE, LIPC
3fatty acid biosynthetic processGO:000663310.1LIPC, LPL
4lipoprotein biosynthetic processGO:004215810.1APOA1, APOE
5artery morphogenesisGO:004884410.1APOE, HES1
6neuron projection regenerationGO:003110210.0APOA1, APOE
7positive regulation of cholesterol esterificationGO:00108739.9APOA1, APOE
8high-density lipoprotein particle assemblyGO:00343809.9APOA1, APOE
9high-density lipoprotein particle clearanceGO:00343849.9APOA1, APOE
10regulation of Cdc42 protein signal transductionGO:00324899.9APOA1, APOE
11cholesterol effluxGO:00333449.9APOA1, APOE
12phospholipid effluxGO:00337009.9APOA1, APOE
13lipid transportGO:00068699.8APOA1, APOE
14negative regulation of inflammatory responseGO:00507289.8APOA1, APOE
15lipid digestionGO:00442419.8LIPC, PNLIP
16triglyceride metabolic processGO:00066419.8APOE, LPL
17cholesterol biosynthetic processGO:00066959.6APOA1, APOE
18high-density lipoprotein particle remodelingGO:00343759.5APOA1, APOE, LIPC
19reverse cholesterol transportGO:00436919.5APOA1, APOE, LIPC
20triglyceride homeostasisGO:00703289.5APOA1, LIPC, LPL
21cholesterol homeostasisGO:00426329.5APOA1, APOE, LIPC
22cholesterol transportGO:00303019.5APOA1, APOE, LIPC
23lipoprotein metabolic processGO:00421579.4APOA1, APOE, LPL
24cholesterol metabolic processGO:00082039.3APOA1, APOE, LIPC
25very-low-density lipoprotein particle remodelingGO:00343729.1APOA1, APOE, LIPC, LPL
26lipid catabolic processGO:00160429.1LIPH, LPL, PNLIP
27triglyceride catabolic processGO:00194338.9APOA1, APOE, LIPC, LPL
28retinoid metabolic processGO:00015238.2APOA1, APOE, LPL, PNLIP
29phototransduction, visible lightGO:00076038.2APOA1, APOE, LPL, PNLIP
30lipid metabolic processGO:00066298.1APOE, LIPC, LIPH, LPL, PNLIP
31small molecule metabolic processGO:00442817.6APOA1, APOE, LIPC, LPL, PNLIP

Molecular functions related to Hepatic Lipase Deficiency according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein bindingGO:003418510.0LIPC, LPL
2cholesterol transporter activityGO:00171279.7APOA1, APOE
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.7APOA1, APOE
4cholesterol bindingGO:00154859.7APOA1, APOE
5lipid transporter activityGO:00053199.7APOA1, APOE
6phospholipase activityGO:00046209.6LIPC, LIPH, LPL
7lipoprotein particle bindingGO:00718139.5APOA1, APOE
8beta-amyloid bindingGO:00015409.3APOA1, APOE
9triglyceride lipase activityGO:00048069.0LIPC, LPL, PNLIP
10carboxylic ester hydrolase activityGO:00526898.5LIPC, LIPH, LPL, PNLIP
11heparin bindingGO:00082018.3APOE, LIPC, LIPH, LPL

Sources for Hepatic Lipase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet