MCID: HPT025
MIFTS: 48

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 51 47 24 25 69 26 12 67
Hyperlipidemia Due to Hepatic Triglyceride Lipase Deficiency 47 25 53
Lipc Deficiency 47 24 25
 
Hl Deficiency 24 25 69
Hmg Coa Lyase Deficiency 67
Lipase, Hepatic 12

Characteristics:

HPO:

63
hepatic lipase deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 614025
Orphanet53 ORPHA140905
ICD10 via Orphanet30 E78.4
MedGen36 C3151466
MeSH38 D008052

Summaries for Hepatic Lipase Deficiency

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NIH Rare Diseases:47 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 hmg-coa lyase deficiency and hepatitis, and has symptoms including Array, Array and Array. 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 triacylglycerol degradation. Affiliated tissues include liver, heart and adrenal gland, and related mouse phenotypes are homeostasis/metabolism and liver/biliary system.

Genetics Home Reference:25 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.

UniProtKB/Swiss-Prot:69 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.

Wikipedia:70 Hepatic lipase, also called hepatic triglyceride lipase (HTGL) or LIPC (for \"lipase, hepatic\"), is a... more...

Description from OMIM:51 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 43)
idRelated DiseaseScoreTop Affiliating Genes
1hmg-coa lyase deficiency11.0
2hepatitis10.4
3spondylometaphyseal dysplasia, megarbane-dagher-melike type10.2LIPC, LPL
4penile disease10.1LIPC, PNLIP
5lactose intolerance10.1LPL, PNLIP
6cryoglobulinemia9.9LPL, PNLIP
7tropical calcific pancreatitis9.9LPL, PNLIP
8atp1a3-related neurologic disorders9.8APOE, LPL
9atherosclerosis9.8
10c1s deficiency9.8APOE, LPL
11optic nerve glioma9.8LPL, PNLIP
12peripheral degeneration of cornea9.8APOE, PNLIP
13blue toe syndrome9.7LIPC, LPL, PNLIP
14polyneuropathy9.7APOA1, APOE
15bladder diverticulum9.7APOA1, APOE
16myocardial infarction9.7
17hypoalphalipoproteinemia9.7
18glucose intolerance9.7
19pontocerebellar hypoplasia9.7APOA1, APOE
20glossopharyngeal nerve neoplasm9.7APOA1, APOE
21hyperlipidemia, familial combined9.6APOA1, LIPC, LPL
22cataract 5, multiple types9.6APOA1, LIPC, LPL
23obesity, hyperphagia, and developmental delay9.6APOA1, APOE
24iron metabolism disease9.5APOA1, APOE
25diabetes mellitus, noninsulin-dependent9.5APOA1, LIPC, LPL
26gemistocytic astrocytoma9.5APOA1, APOE
27lower gum cancer9.4APOA1, APOE
28islet cell tumor9.3APOA1, APOE, LPL
29autoimmune hepatitis9.3APOA1, APOE, LIPC
30inflamed seborrheic keratosis9.3APOA1, APOE, LPL
31conjunctival disease9.3APOA1, APOE, LPL
32keratoacanthoma9.3APOA1, APOE, LPL
33wolfram syndrome 29.3APOA1, APOE, LPL
34von willebrand disease, platelet-type9.3APOA1, APOE, LPL
35littre gland carcinoma9.2APOA1, APOE
36rubinstein taybi like syndrome9.0APOA1, APOE, LIPC, LPL
37apolipoprotein c-iii deficiency9.0APOA1, APOE, LIPC, LPL
38narcolepsy 69.0APOA1, APOE, LIPC, LPL
39immunodeficiency 199.0APOA1, APOE, LIPC, LPL
40coronary artery disease9.0APOA1, APOE, LIPC, LPL
41chondrocalcinosis with early-onset osteoarthritis8.9APOA1, APOE, LPL, PNLIP
42amelogenesis imperfecta, type iia38.5APOA1, APOE, LIPC, LPL, PNLIP
43obesity8.5APOA1, APOE, LIPC, 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

Human phenotypes related to Hepatic Lipase Deficiency:

 53 63
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia53 Obligate (100%)
2 hyperalphalipoproteinemia53 Obligate (100%)
3 eruptive xanthomas63 53 Very frequent (99-80%) HP:0001013
4 angina pectoris63 53 Frequent (79-30%) HP:0001681
5 premature coronary artery disease53 Frequent (79-30%)

Drugs & Therapeutics for Hepatic Lipase Deficiency

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Drugs for Hepatic Lipase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver Extracts3868

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
2Novel Association of Cholesterol Ester Storage Disease Due to Lysosomal Acid Lipase Deficiency and Non-Alcoholic Fatty Liver Disease: A Prospective Clinical StudyUnknown statusNCT01791452
3Screening for Lysosomal Acid Lipase DeficiencyRecruitingNCT02926872
4Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant PatientsRecruitingNCT02851550
5Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant.RecruitingNCT02852304
6National Lysosomal Acid Lipase Deficiency StudyRecruitingNCT02372513

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 Deficiency26 24 LIPC

Anatomical Context for Hepatic Lipase Deficiency

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MalaCards organs/tissues related to Hepatic Lipase Deficiency:

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.2APOA1, APOE, LIPC, LPL, PNLIP
2MP: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:

69
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)SNVPathogenicrs113298164GRCh37Chr 15, 58855748: 58855748
2LIPCNM_000236.2(LIPC): c.866C> T (p.Ser289Phe)SNVPathogenicrs121912502GRCh37Chr 15, 58840586: 58840586
3LIPCLIPC, ALA174THRSNVPathogenicChr na, -1: -1

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 15)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5LIPC, LPL
29.5LIPC, PNLIP
3
Show member pathways
9.5LIPC, PNLIP
49.3APOA1, LPL
59.3APOA1, PNLIP
6
Show member pathways
9.3APOA1, PNLIP
79.0APOA1, APOE
8
Show member pathways
9.0APOA1, APOE
9
Show member pathways
9.0APOA1, APOE
10
Show member pathways
9.0LIPC, LPL, PNLIP
11
Show member pathways
8.1APOA1, APOE, LIPC, LPL
12
Show member pathways
8.0APOA1, APOE, LPL, PNLIP
13
Show member pathways
8.0APOA1, APOE, LPL, PNLIP
14
Show member pathways
7.5APOA1, APOE, LIPC, LPL, PNLIP
15
Show member pathways
7.5APOA1, APOE, LIPC, 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:00716829.7APOA1, APOE
2extracellular vesicleGO:19035619.4APOA1, APOE
3chylomicronGO:00426279.3APOA1, APOE, LPL
4high-density lipoprotein particleGO:00343649.2APOA1, APOE, LIPC
5very-low-density lipoprotein particleGO:00343619.2APOA1, APOE, LPL
6early endosomeGO:00057698.8APOA1, APOE, LIPC
7cell surfaceGO:00099868.6APOA1, LIPC, LPL
8extracellular spaceGO:00056158.1APOA1, APOE, LIPC, LPL
9extracellular regionGO:00055767.4APOA1, 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
2lipid digestionGO:004424110.0LIPC, PNLIP
3cholesterol transportGO:00303019.9APOA1, LIPC
4fatty acid biosynthetic processGO:00066339.8LIPC, LPL
5chylomicron remnant clearanceGO:00343829.8APOE, LIPC
6phospholipid metabolic processGO:00066449.8APOA1, LPL
7lipid catabolic processGO:00160429.7LPL, PNLIP
8low-density lipoprotein particle remodelingGO:00343749.7APOE, LIPC
9positive regulation of cholesterol esterificationGO:00108739.7APOA1, APOE
10phospholipid effluxGO:00337009.7APOA1, APOE
11high-density lipoprotein particle assemblyGO:00343809.7APOA1, APOE
12lipoprotein biosynthetic processGO:00421589.6APOA1, APOE
13regulation of Cdc42 protein signal transductionGO:00324899.6APOA1, APOE
14cholesterol effluxGO:00333449.6APOA1, APOE
15high-density lipoprotein particle clearanceGO:00343849.6APOA1, APOE
16neuron projection regenerationGO:00311029.6APOA1, APOE
17negative regulation of inflammatory responseGO:00507289.5APOA1, APOE
18triglyceride metabolic processGO:00066419.5APOE, LPL
19triglyceride homeostasisGO:00703289.3APOA1, LIPC, LPL
20very-low-density lipoprotein particle remodelingGO:00343729.2APOE, LIPC, LPL
21high-density lipoprotein particle remodelingGO:00343759.1APOA1, APOE, LIPC
22reverse cholesterol transportGO:00436919.0APOA1, APOE, LIPC
23lipoprotein metabolic processGO:00421578.9APOA1, APOE, LPL
24response to drugGO:00424938.9APOA1, LIPC, LPL
25cholesterol metabolic processGO:00082038.8APOA1, APOE, LIPC
26triglyceride catabolic processGO:00194338.3APOA1, APOE, LIPC, LPL
27cholesterol homeostasisGO:00426328.3APOA1, APOE, LIPC, LPL
28retinoid metabolic processGO:00015238.1APOA1, 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:00602289.7APOA1, APOE
3phospholipase activityGO:00046209.6LIPC, LPL
4lipoprotein particle bindingGO:00718139.5APOA1, APOE
5cholesterol transporter activityGO:00171279.5APOA1, APOE
6cholesterol bindingGO:00154859.5APOA1, APOE
7lipid transporter activityGO:00053199.5APOA1, APOE
8beta-amyloid bindingGO:00015409.1APOA1, APOE
9triglyceride lipase activityGO:00048069.1LIPC, LPL, PNLIP
10phospholipid bindingGO:00055439.0APOA1, APOE
11heparin bindingGO:00082018.9APOE, LIPC, LPL
12lipid bindingGO:00082898.6APOA1, APOE, LIPC

Sources for Hepatic Lipase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet