MCID: HPT025
MIFTS: 45

Hepatic Lipase Deficiency malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases

Aliases & Classifications for Hepatic Lipase Deficiency

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Aliases & Descriptions for Hepatic Lipase Deficiency:

Name: Hepatic Lipase Deficiency 50 46 23 24 68 25 12 66
Hyperlipidemia Due to Hepatic Triglyceride Lipase Deficiency 46 24 52
Lipc Deficiency 46 23 24
 
Hl Deficiency 23 24 68
Hmg Coa Lyase Deficiency 66
Lipase, Hepatic 12

Characteristics:

HPO:

62
hepatic lipase deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 614025
Orphanet52 ORPHA140905
ICD10 via Orphanet29 E78.4
MedGen35 C3151466
MeSH37 D008052

Summaries for Hepatic Lipase Deficiency

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NIH Rare Diseases:46 Hepatic lipase deficiency is a rare condition that is characterized by increased levels of certain fats (known as triglycerides and cholesterol) in the blood. affected people may also have increased levels of high-density lipoproteins (hdls) and decreased levels of low-density lipoproteins (ldls), which are two molecules that help transport fats throughout the body. hepatic lipase deficiency may be associated with an increased risk of developing atherosclerosis and/or heart disease; however, additional research is needed on the long-term outlook of people with this condition. hepatic lipase deficiency is caused by changes (mutations) in the lipc gene and is inherited in an autosomal recessive manner. treatment is based on the signs and symptoms present in each person. last updated: 4/2/2016

MalaCards based summary: Hepatic Lipase Deficiency, also known as hyperlipidemia due to hepatic triglyceride lipase deficiency, is related to lipase deficiency, combined and hmg-coa lyase deficiency, and has symptoms including eruptive xanthomas and angina pectoris. An important gene associated with Hepatic Lipase Deficiency is LIPC (Lipase C, Hepatic Type), and among its related pathways are Mitochondrial LC-Fatty Acid Beta-Oxidation and PPAR signaling pathway. Affiliated tissues include liver, heart and adrenal gland, and related mouse phenotype liver/biliary system.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 Hepatic lipase deficiency is a disorder that affects the body's ability to break down fats (lipids). People with this disorder have increased amounts of certain fats, known as triglycerides and cholesterol, in the blood. These individuals also have increased amounts of molecules known as high-density lipoproteins (HDLs) and decreased amounts of molecules called low-density lipoproteins (LDL). These molecules transport triglycerides and cholesterol throughout the body. In people with hepatic lipase deficiency, the LDL molecules are often abnormally large.

Wikipedia:69 Hepatic lipase, also called hepatic triglyceride lipase (HTGL) or LIPC (for \"lipase, hepatic\"), is a... more...

Description from OMIM:50 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 all 44)
idRelated DiseaseScoreTop Affiliating Genes
1lipase deficiency, combined11.0
2hmg-coa lyase deficiency11.0
3hepatitis10.5
4spondylometaphyseal dysplasia, megarbane-dagher-melike type10.3LIPC, LPL
5lactose intolerance10.0LPL, PNLIP
6penile disease10.0LIPC, PNLIP
7atherosclerosis9.9
8atp1a3-related neurologic disorders9.9APOE, LPL
9cryoglobulinemia9.9LPL, PNLIP
10c1s deficiency9.9APOE, LPL
11tropical calcific pancreatitis9.8LPL, PNLIP
12hyperlipidemia, familial combined9.8APOA1, LIPC, LPL
13cataract 5, multiple types9.8APOA1, LIPC, LPL
14polyneuropathy9.8APOA1, APOE
15myocardial infarction9.8
16hypoalphalipoproteinemia9.8
17glucose intolerance9.8
18blue toe syndrome9.8LIPC, LPL, PNLIP
19bladder diverticulum9.8APOA1, APOE
20pontocerebellar hypoplasia9.7APOA1, APOE
21glossopharyngeal nerve neoplasm9.7APOA1, APOE
22optic nerve glioma9.7LPL, PNLIP
23peripheral degeneration of cornea9.7APOE, PNLIP
24obesity, hyperphagia, and developmental delay9.7APOA1, APOE
25iron metabolism disease9.5APOA1, APOE
26littre gland carcinoma9.5APOA1, APOE
27islet cell tumor9.5APOA1, APOE, LPL
28inflamed seborrheic keratosis9.4APOA1, APOE, LPL
29conjunctival disease9.4APOA1, APOE, LPL
30keratoacanthoma9.4APOA1, APOE, LPL
31wolfram syndrome 29.4APOA1, APOE, LPL
32von willebrand disease, platelet-type9.4APOA1, APOE, LPL
33autoimmune hepatitis9.4APOA1, APOE, LIPC
34diabetes mellitus, noninsulin-dependent9.3APOA1, LIPC, LIPH, LPL
35lower gum cancer9.2APOA1, APOE
36rubinstein taybi like syndrome9.1APOA1, APOE, LIPC, LPL
37surf1-related charcot-marie-tooth disease type 49.1APOA1, APOE, LIPC, LPL
38apolipoprotein c-iii deficiency9.1APOA1, APOE, LIPC, LPL
39narcolepsy 69.1APOA1, APOE, LIPC, LPL
40immunodeficiency 199.1APOA1, APOE, LIPC, LPL
41coronary artery disease9.1APOA1, APOE, LIPC, LPL
42chondrocalcinosis with early-onset osteoarthritis8.9APOA1, APOE, LPL, PNLIP
43obesity8.4APOA1, APOE, LIPC, LPL, PNLIP
44amelogenesis imperfecta, type iia38.0APOA1, APOE, LIPC, LIPH, LPL, PNLIP

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 eruptive xanthomas HP:0001013
2 angina pectoris HP:0001681

Drugs & Therapeutics for Hepatic Lipase Deficiency

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A Multicenter Study of SBC-102 (Sebelipase Alfa) in Patients With Lysosomal Acid Lipase Deficiency/ ARISE (Acid Lipase Replacement Investigating Safety and Efficacy)Active, not recruitingNCT01757184Phase 3
2Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant PatientsRecruitingNCT02851550
3Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant.RecruitingNCT02852304
4National Lysosomal Acid Lipase Deficiency StudyRecruitingNCT02372513
5Screening for Lysosomal Acid Lipase DeficiencyNot yet recruitingNCT02926872
6Novel 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 Deficiency25 23 LIPC

Anatomical Context for Hepatic Lipase Deficiency

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MalaCards organs/tissues related to Hepatic Lipase Deficiency:

34
Liver, Heart, Adrenal gland

Animal Models for Hepatic Lipase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Hepatic Lipase Deficiency:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.0APOA1, APOE, LPL, PNLIP

Publications for Hepatic Lipase Deficiency

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Articles related to Hepatic Lipase Deficiency:

(show all 31)
idTitleAuthorsYear
1
High-density lipoprotein subpopulation profiles in lipoprotein lipase and hepatic lipase deficiency. (27573733)
2016
2
Hepatic lipase deficiency produces glucose intolerance, inflammation and hepatic steatosis. (26423094)
2015
3
Hepatic lipase deficiency in a Middle-Eastern-Arabic male. (22798447)
2010
4
Hepatic lipase deficiency delays atherosclerosis, myocardial infarction, and cardiac dysfunction and extends lifespan in SR-BI/apolipoprotein E double knockout mice. (16397139)
2006
5
Effect of fenofibrate on plasma lipoprotein composition and kinetics in patients with complete hepatic lipase deficiency. (16224048)
2005
6
Plasma metabolism of apoB-containing lipoproteins in patients with hepatic lipase deficiency. (15910863)
2005
7
Evidence that hepatic lipase deficiency in humans is not associated with proatherogenic changes in HDL composition and metabolism. (15175359)
2004
8
Severe hypoalphalipoproteinemia in mice expressing human hepatic lipase deficient in binding to heparan sulfate proteoglycan. (15292235)
2004
9
Lipoprotein metabolism in subjects with hepatic lipase deficiency. (15045702)
2004
10
Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians. (12777476)
2003
11
Hepatic lipase deficiency attenuates mouse ovarian progesterone production leading to decreased ovulation and reduced litter size. (11906928)
2002
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
Acute dyslipoproteinemia induced by interleukin-2: lecithin:cholesteryl acyltransferase, lipoprotein lipase, and hepatic lipase deficiencies. (9141552)
1997
19
Hepatic lipase gene therapy in hepatic lipase-deficient mice. Adenovirus-mediated replacement of a lipolytic enzyme to the vascular endothelium. (8609237)
1996
20
Analysis of protein structure-function in vivo. Adenovirus-mediated transfer of lipase lid mutants in hepatic lipase-deficient mice. (8824281)
1996
21
Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations. (8123642)
1994
22
Hepatic lipase deficiency. Clinical, biochemical, and molecular genetic characteristics. (8485124)
1993
23
Beta-VLDL in hepatic lipase deficiency induces apoE-mediated cholesterol ester accumulation in macrophages. (8364012)
1993
24
The molecular basis of hepatic lipase deficiency. (1933710)
1991
25
Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency. (1883393)
1991
26
Plasma lipoproteins in familial hepatic lipase deficiency. (2297346)
1990
27
Large buoyant LDL-like particles in hepatic lipase deficiency. (2719594)
1989
28
The rabbit as an animal model of hepatic lipase deficiency. (2930766)
1989
29
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
30
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
31
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:

68
id Symbol AA change Variation ID SNP ID
1LIPCp.Ser289PheVAR_004209rs121912502
2LIPCp.Thr405MetVAR_004210rs113298164

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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Pathways related to Hepatic Lipase Deficiency according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5LIPC, LPL
2
Show member pathways
9.3APOA1, LPL
3
Show member pathways
9.3APOA1, APOE
49.2LIPC, PNLIP
5
Show member pathways
9.2LIPC, PNLIP
69.0APOA1, PNLIP
79.0APOA1, PNLIP
8
Show member pathways
8.7LIPC, LPL, PNLIP
9
Show member pathways
8.4APOA1, APOE, LIPC, LPL
10
Show member pathways
8.0APOA1, APOE, LPL, PNLIP
11
Show member pathways
8.0APOA1, APOE, LPL, PNLIP
12
Show member pathways
7.1APOA1, APOE, LIPC, LIPH, LPL, PNLIP
13
Show member pathways
7.1APOA1, APOE, LIPC, LIPH, LPL, PNLIP

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:00426279.5APOA1, APOE, LPL
5very-low-density lipoprotein particleGO:00343619.5APOA1, APOE, LPL
6early endosomeGO:00057699.3APOA1, APOE, LIPC
7cell surfaceGO:00099868.8APOA1, LIPC, LPL
8extracellular spaceGO:00056157.9APOA1, APOE, LIPC, LIPH, LPL
9extracellular regionGO:00055767.3APOA1, APOE, LIPC, LPL, PNLIP

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

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1chylomicron remodelingGO:003437110.1LIPC, LPL
2chylomicron remnant clearanceGO:003438210.1APOE, LIPC
3fatty acid biosynthetic processGO:000663310.0LIPC, LPL
4low-density lipoprotein particle remodelingGO:003437410.0APOE, LIPC
5regulation of Cdc42 protein signal transductionGO:00324899.9APOA1, APOE
6positive regulation of cholesterol esterificationGO:00108739.9APOA1, APOE
7cholesterol transportGO:00303019.9APOA1, LIPC
8phospholipid effluxGO:00337009.9APOA1, APOE
9lipoprotein biosynthetic processGO:00421589.9APOA1, APOE
10high-density lipoprotein particle clearanceGO:00343849.9APOA1, APOE
11high-density lipoprotein particle assemblyGO:00343809.9APOA1, APOE
12neuron projection regenerationGO:00311029.9APOA1, APOE
13cholesterol effluxGO:00333449.9APOA1, APOE
14phospholipid metabolic processGO:00066449.8APOA1, LPL
15negative regulation of inflammatory responseGO:00507289.8APOA1, APOE
16triglyceride metabolic processGO:00066419.7APOE, LPL
17very-low-density lipoprotein particle remodelingGO:00343729.5APOE, LIPC, LPL
18triglyceride homeostasisGO:00703289.4APOA1, LIPC, LPL
19high-density lipoprotein particle remodelingGO:00343759.4APOA1, APOE, LIPC
20reverse cholesterol transportGO:00436919.4APOA1, APOE, LIPC
21lipid digestionGO:00442419.3LIPC, LIPH, PNLIP
22lipoprotein metabolic processGO:00421579.2APOA1, APOE, LPL
23cholesterol metabolic processGO:00082039.1APOA1, APOE, LIPC
24lipid catabolic processGO:00160429.0LIPH, LPL, PNLIP
25response to drugGO:00424938.9APOA1, LIPC, LPL
26triglyceride catabolic processGO:00194338.7APOA1, APOE, LIPC, LPL
27cholesterol homeostasisGO:00426328.6APOA1, APOE, LIPC, LPL
28retinoid metabolic processGO:00015238.2APOA1, APOE, LPL, PNLIP

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein bindingGO:003418510.0LIPC, LPL
2phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.9APOA1, APOE
3lipoprotein particle bindingGO:00718139.8APOA1, APOE
4lipid transporter activityGO:00053199.8APOA1, APOE
5cholesterol transporter activityGO:00171279.8APOA1, APOE
6cholesterol bindingGO:00154859.8APOA1, APOE
7phospholipid bindingGO:00055439.4APOA1, APOE
8phospholipase activityGO:00046209.3LIPC, LIPH, LPL
9beta-amyloid bindingGO:00015409.2APOA1, APOE
10lipid bindingGO:00082898.9APOA1, APOE, LIPC
11triglyceride lipase activityGO:00048068.9LIPC, LPL, PNLIP
12heparin bindingGO:00082018.8APOE, LIPC, LIPH, LPL

Sources for Hepatic Lipase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet