MCID: HPT025
MIFTS: 48

Hepatic Lipase Deficiency

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

Aliases & Classifications for Hepatic Lipase Deficiency

MalaCards integrated aliases for Hepatic Lipase Deficiency:

Name: Hepatic Lipase Deficiency 54 50 24 25 71 29 13 69
Hyperlipidemia Due to Hepatic Triglyceride Lipase Deficiency 50 25 56
Lipc Deficiency 50 24 25
Hl Deficiency 24 25 71
Hmg Coa Lyase Deficiency 69
Lipase, Hepatic 13

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
hepatic lipase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614025
Orphanet 56 ORPHA140905
ICD10 via Orphanet 34 E78.4
MedGen 40 C3151466
MeSH 42 D008052

Summaries for Hepatic Lipase Deficiency

NIH Rare Diseases : 50 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 hypertriglyceridemia, angina pectoris and eruptive xanthomas. An important gene associated with Hepatic Lipase Deficiency is LIPC (Lipase C, Hepatic Type), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include heart and liver, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

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 : 71 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 : 72 3990... more...

Description from OMIM: 614025

Related Diseases for Hepatic Lipase Deficiency

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

(show all 46)
id Related Disease Score Top Affiliating Genes
1 lipase deficiency, combined 10.8
2 hmg-coa lyase deficiency 10.8
3 hepatitis 10.4
4 epilepsy, familial focal, with variable foci 3 10.2 LIPC LPL
5 pleural disease 10.1 LIPC PNLIP
6 tropical calcific pancreatitis 9.9 LPL PNLIP
7 cryoglobulinemia 9.9 LPL PNLIP
8 immunodeficiency 19 9.8 APOE LPL
9 atherosclerosis 9.8
10 cirrhotic cardiomyopathy 9.8 APOE LPL
11 malignant fibrous histiocytoma of bone 9.8 APOE LPL
12 abducens nerve neoplasm 9.7 LIPC LPL PNLIP
13 familial osteochondritis dissecans 9.7 APOA1 APOE
14 pars planitis 9.7 APOA1 APOE
15 atypical polypoid adenomyoma 9.7 LPL PNLIP
16 migraine with or without aura 1 9.7 APOA1 APOE
17 myocardial infarction 9.7
18 hypoalphalipoproteinemia 9.7
19 glucose intolerance 9.7
20 stone in bladder diverticulum 9.6 APOA1 APOE
21 pontocerebellar hypoplasia 9.6 APOA1 APOE
22 melorheostosis 9.6 APOA1 APOE
23 glossopharyngeal nerve disease 9.6 APOA1 APOE
24 obesity, hyperphagia, and developmental delay 9.6 APOA1 APOE
25 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 9.4 APOE LIPC LPL
26 myelophthisic anemia 9.4 APOA1 APOE
27 malignant type ab thymoma 9.4 APOA1 APOE
28 islet cell tumor 9.3 APOA1 APOE LPL
29 bird fancier's lung 9.3 APOA1 APOE LPL
30 fish-eye disease 9.2 APOA1 APOE LPL
31 wolfram syndrome 2 9.2 APOA1 APOE LPL
32 pericarditis 9.2 APOA1 APOE LPL
33 atrophic muscular disease 9.1 APOA1 APOE
34 alzheimer disease-2 8.8 APOA1 APOE LIPC LPL
35 hyperlipidemia, familial combined 8.8 APOA1 APOE LIPC LPL
36 apolipoprotein c-iii deficiency 8.8 APOA1 APOE LIPC LPL
37 acute apical periodontitis 8.8 APOA1 APOE LIPC LPL
38 lissencephaly 6, with microcephaly 8.8 APOA1 APOE LIPC LPL
39 skin squamous cell carcinoma 8.8 APOA1 APOE LIPC LPL
40 hyperchylomicronemia, late-onset 8.8 APOA1 APOE LIPC LPL
41 codas syndrome 8.8 APOA1 APOE LIPC LPL
42 macular degeneration, age-related, 12 8.8 APOA1 APOE LIPC LPL
43 chondrocalcinosis with early-onset osteoarthritis 8.8 APOA1 APOE LPL PNLIP
44 maturity-onset diabetes of the young 6 8.8 APOA1 APOE LIPC LPL
45 amelogenesis imperfecta, type iia3 8.3 APOA1 APOE LIPC LPL PNLIP
46 von hippel-lindau syndrome 8.3 APOA1 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

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
abnormally triglyceride-rich low and high density lipoproteins and beta-migrating very low density lipoproteins
hepatic lipase deficiency

Cardiovascular- Heart:
angina pectoris

Skin Nails & Hair- Skin:
palmar xanthomas
eruptive xanthomas


Clinical features from OMIM:

614025

Human phenotypes related to Hepatic Lipase Deficiency:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia 56 32 obligate (100%) Obligate (100%) HP:0002155
2 angina pectoris 56 32 frequent (33%) Frequent (79-30%) HP:0001681
3 eruptive xanthomas 56 32 hallmark (90%) Very frequent (99-80%) HP:0001013
4 hyperalphalipoproteinemia 56 32 obligate (100%) Obligate (100%) HP:0012184
5 premature coronary artery disease 56 32 frequent (33%) 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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.26 APOA1 APOE LIPC LPL
2 Increased LDL uptake GR00340-A-1 8.8 APOA1 APOE LPL

MGI Mouse Phenotypes related to Hepatic Lipase Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.35 APOA1 APOE LIPC LPL PNLIP
2 liver/biliary system MP:0005370 8.92 APOA1 APOE LPL PNLIP

Drugs & Therapeutics for Hepatic Lipase Deficiency

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 A Multicenter Study of SBC-102 (Sebelipase Alfa) in Patients With Lysosomal Acid Lipase Deficiency/ ARISE (Acid Lipase Replacement Investigating Safety and Efficacy) Active, not recruiting NCT01757184 Phase 3 SBC-102 [sebelipase alfa] (1 mg/kg);Placebo
2 Novel Association of Cholesterol Ester Storage Disease Due to Lysosomal Acid Lipase Deficiency and Non-Alcoholic Fatty Liver Disease: A Prospective Clinical Study Unknown status NCT01791452
3 Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients Recruiting NCT02851550
4 Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant. Recruiting NCT02852304
5 National Lysosomal Acid Lipase Deficiency Study Recruiting NCT02372513
6 Screening for Lysosomal Acid Lipase Deficiency Terminated NCT02926872

Search NIH Clinical Center for Hepatic Lipase Deficiency

Genetic Tests for Hepatic Lipase Deficiency

Genetic tests related to Hepatic Lipase Deficiency:

id Genetic test Affiliating Genes
1 Hepatic Lipase Deficiency 29 24 LIPC

Anatomical Context for Hepatic Lipase Deficiency

MalaCards organs/tissues related to Hepatic Lipase Deficiency:

39
Heart, Liver

Publications for Hepatic Lipase Deficiency

Articles related to Hepatic Lipase Deficiency:

(show all 31)
id Title Authors Year
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
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
Acute dyslipoproteinemia induced by interleukin-2: lecithin:cholesteryl acyltransferase, lipoprotein lipase, and hepatic lipase deficiencies. ( 9141552 )
1997
18
Hepatic lipase deficiency increases plasma cholesterol but reduces susceptibility to atherosclerosis in apolipoprotein E-deficient mice. ( 9153204 )
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
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

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

71
id Symbol AA change Variation ID SNP ID
1 LIPC p.Ser289Phe VAR_004209 rs121912502
2 LIPC p.Thr405Met VAR_004210 rs113298164

ClinVar genetic disease variations for Hepatic Lipase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LIPC NM_000236.2(LIPC): c.1214C> T (p.Thr405Met) single nucleotide variant Pathogenic rs113298164 GRCh37 Chromosome 15, 58855748: 58855748
2 LIPC LIPC, ALA174THR single nucleotide variant Pathogenic

Expression for Hepatic Lipase Deficiency

Search GEO for disease gene expression data for Hepatic Lipase Deficiency.

Pathways for Hepatic Lipase Deficiency

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

(show all 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 APOA1 APOE LIPC LPL PNLIP
2
Show member pathways
12.17 APOA1 APOE LPL PNLIP
3
Show member pathways
11.89 APOA1 APOE LIPC LPL PNLIP
4
Show member pathways
11.79 APOA1 APOE LPL PNLIP
5 11.63 APOA1 APOE
6
Show member pathways
11.59 LIPC LPL
7
Show member pathways
11.53 APOA1 APOE
8 11.35 APOA1 LPL
9
Show member pathways
11.2 LIPC PNLIP
10
Show member pathways
11.16 LIPC LPL
11
Show member pathways
11.05 APOA1 PNLIP
12
Show member pathways
10.76 APOA1 APOE LIPC LPL
13 10.75 APOA1 PNLIP
14 10.36 LIPC PNLIP

GO Terms for Hepatic Lipase Deficiency

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.85 APOA1 APOE LIPC LPL PNLIP
2 extracellular space GO:0005615 9.67 APOA1 APOE LIPC LPL
3 endoplasmic reticulum lumen GO:0005788 9.65 APOA1 APOE LIPC
4 extracellular vesicle GO:1903561 9.51 APOA1 APOE
5 extracellular matrix GO:0031012 9.49 APOE LPL
6 endocytic vesicle lumen GO:0071682 9.43 APOA1 APOE
7 low-density lipoprotein particle GO:0034362 9.4 APOA1 APOE
8 high-density lipoprotein particle GO:0034364 9.33 APOA1 APOE LIPC
9 intermediate-density lipoprotein particle GO:0034363 9.32 APOA1 APOE
10 very-low-density lipoprotein particle GO:0034361 9.13 APOA1 APOE LPL
11 discoidal high-density lipoprotein particle GO:0034365 8.96 APOA1
12 chylomicron GO:0042627 8.8 APOA1 APOE LPL

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

(show all 31)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.85 APOA1 APOE LIPC LPL PNLIP
2 lipid catabolic process GO:0016042 9.72 LIPC LPL PNLIP
3 lipid transport GO:0006869 9.65 APOA1 APOE
4 steroid metabolic process GO:0008202 9.65 APOA1 APOE
5 cholesterol metabolic process GO:0008203 9.65 APOA1 APOE LIPC
6 negative regulation of inflammatory response GO:0050728 9.64 APOA1 APOE
7 fatty acid biosynthetic process GO:0006633 9.64 LIPC LPL
8 phospholipid metabolic process GO:0006644 9.63 APOA1 LPL
9 triglyceride metabolic process GO:0006641 9.63 APOE LPL
10 cholesterol transport GO:0030301 9.62 APOA1 LIPC
11 cholesterol efflux GO:0033344 9.62 APOA1 APOE
12 cholesterol homeostasis GO:0042632 9.62 APOA1 APOE LIPC LPL
13 lipoprotein metabolic process GO:0042157 9.61 APOA1 APOE
14 high-density lipoprotein particle assembly GO:0034380 9.61 APOA1 APOE
15 reverse cholesterol transport GO:0043691 9.61 APOA1 APOE LIPC
16 low-density lipoprotein particle remodeling GO:0034374 9.6 APOE LIPC
17 phospholipid efflux GO:0033700 9.59 APOA1 APOE
18 regulation of lipoprotein lipase activity GO:0051004 9.58 LIPC LPL
19 chylomicron assembly GO:0034378 9.58 APOA1 APOE
20 high-density lipoprotein particle remodeling GO:0034375 9.58 APOA1 APOE LIPC
21 positive regulation of cholesterol esterification GO:0010873 9.57 APOA1 APOE
22 high-density lipoprotein particle clearance GO:0034384 9.56 APOA1 APOE
23 chylomicron remnant clearance GO:0034382 9.54 APOE LIPC
24 chylomicron remodeling GO:0034371 9.54 APOA1 APOE LPL
25 neuron projection regeneration GO:0031102 9.52 APOA1 APOE
26 regulation of Cdc42 protein signal transduction GO:0032489 9.51 APOA1 APOE
27 lipoprotein biosynthetic process GO:0042158 9.49 APOA1 APOE
28 retinoid metabolic process GO:0001523 9.46 APOA1 APOE LPL PNLIP
29 very-low-density lipoprotein particle remodeling GO:0034372 9.43 APOE LIPC LPL
30 triglyceride homeostasis GO:0070328 9.26 APOA1 APOE LIPC LPL
31 triglyceride catabolic process GO:0019433 8.92 APOA1 APOE LIPC LPL

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.58 APOE LIPC LPL
2 phospholipid binding GO:0005543 9.52 APOA1 APOE
3 beta-amyloid binding GO:0001540 9.51 APOA1 APOE
4 cholesterol binding GO:0015485 9.49 APOA1 APOE
5 lipid transporter activity GO:0005319 9.48 APOA1 APOE
6 cholesterol transporter activity GO:0017127 9.46 APOA1 APOE
7 apolipoprotein binding GO:0034185 9.43 LIPC LPL
8 phospholipase activity GO:0004620 9.37 LIPC LPL
9 lipoprotein particle binding GO:0071813 9.26 APOA1 APOE
10 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.16 APOA1 APOE
11 carboxylic ester hydrolase activity GO:0052689 9.13 LIPC LPL PNLIP
12 lipase activity GO:0016298 9.02 LIPC
13 triglyceride lipase activity GO:0004806 8.8 LIPC LPL PNLIP

Sources for Hepatic Lipase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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