HL DEFICIENCY
MCID: HPT025
MIFTS: 48

Hepatic Lipase Deficiency (HL 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 52 48 24 25 70 27 12 68
Hyperlipidemia Due to Hepatic Triglyceride Lipase Deficiency 48 25 54
Lipc Deficiency 48 24 25
 
Hl Deficiency 24 25 70
Hmg Coa Lyase Deficiency 68
Lipase, Hepatic 12

Characteristics:

HPO:

64
hepatic lipase deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 614025
Orphanet54 ORPHA140905
ICD10 via Orphanet31 E78.4
MedGen37 C3151466
MeSH39 D008052

Summaries for Hepatic Lipase Deficiency

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NIH Rare Diseases:48 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 angina pectoris, angina pectoris 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 heart, liver and adrenal gland, and related mouse phenotypes are Increased LDL uptake and Decreased free cholesterol.

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:70 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:71 Hepatic lipase, also called hepatic triglyceride lipase (HTGL) or LIPC (for \"lipase, hepatic\"), is a... more...

Description from OMIM:52 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 46)
idRelated DiseaseScoreTop Affiliating Genes
1hmg-coa lyase deficiency11.0
2hepatitis10.4
3polycystic kidney disease, infantile severe, with tuberous sclerosis10.1LIPC, LPL
4pleural disease10.0LIPC, PNLIP
5alport syndrome and thin basement membrane nephropathy10.0APOE, LPL
6c1s deficiency9.9APOE, LPL
7myxofibrosarcoma9.9APOE, LPL
8asphyxia neonatorum9.9APOE, LPL
9abducens nerve neoplasm9.9LIPC, LPL, PNLIP
10familial progressive cardiac conduction defect9.9APOA1, APOE
11albinism, oculocutaneous, type v9.9APOA1, APOE
12lacrimal system cancer9.9LPL, PNLIP
13pars planitis9.9APOA1, APOE
14stone in bladder diverticulum9.9APOA1, APOE
15primary pigmented nodular adrenocortical disease9.9APOA1, APOE
16gait apraxia9.9APOA1, APOE
17optic nerve neoplasm9.8APOA1, APOE
18neuropathy, hereditary sensory and autonomic, type ia9.8APOA1, APOE
19atherosclerosis9.8
20severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome9.8APOE, LIPC, LPL
21dyserythropoietic anemia, congenital, type ii9.8APOA1, APOE
22hard palate cancer9.8APOA1, APOE
23joint disorders9.7APOA1, APOE, LPL
24bird fancier's lung9.7APOA1, APOE, LPL
25von willebrand disease, platelet-type9.7APOA1, APOE, LPL
26mannosidosis, beta9.7APOA1, APOE, LPL
27pyrimidine metabolic disorder9.7APOA1, APOE, LPL
28pericarditis9.7APOA1, APOE, LPL
29cervix small cell carcinoma9.7APOA1, APOE
30myocardial infarction9.7
31hypoalphalipoproteinemia9.7
32glucose intolerance9.7
33skin squamous cell carcinoma9.6APOA1, APOE, LIPC, LPL
34bleeding disorder, east texas type9.6APOA1, APOE, LIPC, LPL
35hypertriglyceridemia9.6APOA1, APOE, LIPC, LPL
36cataract 5, multiple types9.6APOA1, APOE, LIPC, LPL
37acute apical periodontitis9.6APOA1, APOE, LIPC, LPL
38lipomatosis9.6APOA1, APOE, LIPC, LPL
39immunodeficiency 189.6APOA1, APOE, LIPC, LPL
40narcolepsy 69.6APOA1, APOE, LIPC, LPL
41autoimmune-related retinopathy and optic neuropathy9.6APOA1, APOE, LIPC, LPL
42macular degeneration, age-related, 129.6APOA1, APOE, LIPC, LPL
43chondrocalcinosis with early-onset osteoarthritis9.6APOA1, APOE, LPL, PNLIP
44maturity-onset diabetes of the young 69.5APOA1, APOE, LIPC, LPL
45hyperchlorhidrosis, isolated9.4APOA1, APOE, LIPC, LPL, PNLIP
46von hippel-lindau syndrome9.4APOA1, APOE, LIPC, LPL, PNLIP

Graphical network of the top 20 diseases related to Hepatic Lipase Deficiency:



Diseases related to hepatic lipase deficiency

Symptoms & Phenotypes 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:

 54 64
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia64 54 Obligate (100%) HP:0002155
2 hyperalphalipoproteinemia64 54 Obligate (100%) HP:0012184
3 eruptive xanthomas64 54 Very frequent (99-80%) HP:0001013
4 angina pectoris64 54 Frequent (79-30%) HP:0001681
5 premature coronary artery disease64 54 Frequent (79-30%) HP:0005181

UMLS symptoms related to Hepatic Lipase Deficiency:


angina pectoris

GenomeRNAi Phenotypes related to Hepatic Lipase Deficiency according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00340-A-19.2APOA1, APOE, LPL
2GR00340-A-28.9APOA1, APOE, LIPC, LPL

MGI Mouse Phenotypes related to Hepatic Lipase Deficiency according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053768.2APOA1, APOE, LIPC, LPL, PNLIP
2MP:00053708.0APOA1, APOE, LPL, PNLIP

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 Extracts4067

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
3Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant PatientsRecruitingNCT02851550
4Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant.RecruitingNCT02852304
5National Lysosomal Acid Lipase Deficiency StudyRecruitingNCT02372513
6Screening for Lysosomal Acid Lipase DeficiencyActive, not recruitingNCT02926872

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 Deficiency27 24 LIPC

Anatomical Context for Hepatic Lipase Deficiency

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MalaCards organs/tissues related to Hepatic Lipase Deficiency:

36
Heart, Liver, Adrenal gland

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
Plasma metabolism of apoB-containing lipoproteins in patients with hepatic lipase deficiency. (15910863)
2005
6
Effect of fenofibrate on plasma lipoprotein composition and kinetics in patients with complete hepatic lipase deficiency. (16224048)
2005
7
Severe hypoalphalipoproteinemia in mice expressing human hepatic lipase deficient in binding to heparan sulfate proteoglycan. (15292235)
2004
8
Evidence that hepatic lipase deficiency in humans is not associated with proatherogenic changes in HDL composition and metabolism. (15175359)
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
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
Effects of short-term stanozolol administration on serum lipoproteins in hepatic lipase deficiency. (9284885)
1997
19
Analysis of protein structure-function in vivo. Adenovirus-mediated transfer of lipase lid mutants in hepatic lipase-deficient mice. (8824281)
1996
20
Hepatic lipase gene therapy in hepatic lipase-deficient mice. Adenovirus-mediated replacement of a lipolytic enzyme to the vascular endothelium. (8609237)
1996
21
Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations. (8123642)
1994
22
Beta-VLDL in hepatic lipase deficiency induces apoE-mediated cholesterol ester accumulation in macrophages. (8364012)
1993
23
Hepatic lipase deficiency. Clinical, biochemical, and molecular genetic characteristics. (8485124)
1993
24
Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency. (1883393)
1991
25
The molecular basis of hepatic lipase deficiency. (1933710)
1991
26
Plasma lipoproteins in familial hepatic lipase deficiency. (2297346)
1990
27
The rabbit as an animal model of hepatic lipase deficiency. (2930766)
1989
28
Large buoyant LDL-like particles in hepatic lipase deficiency. (2719594)
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:

70
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
2LIPCLIPC, ALA174THRSNVPathogenic

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 14)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5LIPC, LPL
29.5LIPC, PNLIP
3
Show member pathways
9.5LIPC, PNLIP
49.3APOA1, LPL
5
Show member pathways
9.3APOA1, PNLIP
69.3APOA1, PNLIP
7
Show member pathways
9.0APOA1, APOE
89.0APOA1, APOE
9
Show member pathways
9.0LIPC, LPL, PNLIP
10
Show member pathways
8.1APOA1, APOE, LIPC, LPL
11
Show member pathways
8.0APOA1, APOE, LPL, PNLIP
12
Show member pathways
8.0APOA1, APOE, LPL, PNLIP
13
Show member pathways
7.5APOA1, APOE, LIPC, LPL, PNLIP
14
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:00716829.8APOA1, APOE
2extracellular vesicleGO:19035619.5APOA1, APOE
3intermediate-density lipoprotein particleGO:00343639.4APOA1, APOE
4low-density lipoprotein particleGO:00343629.4APOA1, APOE
5endoplasmic reticulum lumenGO:00057889.4APOA1, APOE, LIPC
6chylomicronGO:00426279.3APOA1, APOE, LPL
7high-density lipoprotein particleGO:00343649.0APOA1, APOE, LIPC
8extracellular spaceGO:00056158.6APOA1, APOE, LIPC, LPL
9very-low-density lipoprotein particleGO:00343618.5APOA1, APOE, LPL
10extracellular regionGO:00055768.3APOA1, APOE, LIPC, LPL, PNLIP

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1fatty acid biosynthetic processGO:000663310.2LIPC, LPL
2lipid digestionGO:004424110.2LIPC, PNLIP
3cholesterol transportGO:003030110.1APOA1, LIPC
4regulation of lipoprotein lipase activityGO:005100410.1LIPC, LPL
5phospholipid metabolic processGO:000664410.0APOA1, LPL
6chylomicron remnant clearanceGO:00343829.9APOE, LIPC
7low-density lipoprotein particle remodelingGO:00343749.8APOE, LIPC
8cholesterol effluxGO:00333449.8APOA1, APOE
9chylomicron assemblyGO:00343789.8APOA1, APOE
10high-density lipoprotein particle assemblyGO:00343809.8APOA1, APOE
11high-density lipoprotein particle clearanceGO:00343849.8APOA1, APOE
12lipid transportGO:00068699.7APOA1, APOE
13lipoprotein biosynthetic processGO:00421589.7APOA1, APOE
14lipid catabolic processGO:00160429.7LIPC, LPL, PNLIP
15negative regulation of inflammatory responseGO:00507289.7APOA1, APOE
16neuron projection regenerationGO:00311029.7APOA1, APOE
17phospholipid effluxGO:00337009.7APOA1, APOE
18positive regulation of cholesterol esterificationGO:00108739.7APOA1, APOE
19regulation of Cdc42 protein signal transductionGO:00324899.6APOA1, APOE
20steroid metabolic processGO:00082029.6APOA1, APOE
21triglyceride metabolic processGO:00066419.3APOE, LPL
22cholesterol metabolic processGO:00082039.3APOA1, APOE, LIPC
23high-density lipoprotein particle remodelingGO:00343759.3APOA1, APOE, LIPC
24chylomicron remodelingGO:00343719.2APOA1, APOE, LPL
25reverse cholesterol transportGO:00436919.2APOA1, APOE, LIPC
26lipoprotein metabolic processGO:00421579.2APOA1, APOE, LPL
27cholesterol homeostasisGO:00426328.8APOA1, APOE, LIPC, LPL
28very-low-density lipoprotein particle remodelingGO:00343728.7APOE, LIPC, LPL
29retinoid metabolic processGO:00015238.6APOA1, APOE, LPL, PNLIP
30triglyceride catabolic processGO:00194338.5APOA1, APOE, LIPC, LPL
31triglyceride homeostasisGO:00703288.5APOA1, APOE, LIPC, LPL
32lipid metabolic processGO:00066298.2APOA1, APOE, LIPC, LPL, PNLIP

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein bindingGO:003418510.1LIPC, LPL
2phospholipase activityGO:000462010.0LIPC, LPL
3beta-amyloid bindingGO:00015409.7APOA1, APOE
4cholesterol bindingGO:00154859.7APOA1, APOE
5cholesterol transporter activityGO:00171279.7APOA1, APOE
6carboxylic ester hydrolase activityGO:00526899.6LIPC, LPL, PNLIP
7lipid transporter activityGO:00053199.6APOA1, APOE
8lipoprotein particle bindingGO:00718139.6APOA1, APOE
9phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.6APOA1, APOE
10phospholipid bindingGO:00055439.4APOA1, APOE
11heparin bindingGO:00082019.2APOE, LIPC, LPL
12triglyceride lipase activityGO:00048069.0LIPC, LPL, PNLIP

Sources for Hepatic Lipase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet