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 53 49 24 71 28 13 69
Hyperlipidemia Due to Hepatic Triglyceride Lipase Deficiency 49 24 55
Lipc Deficiency 53 49 24
Hl Deficiency 53 24 71
Hyperlipidemia Due to Hepatic Triacylglycerol Lipase Deficiency 49 55
Hyperlipidemia Due to Hepatic Lipase Deficiency 49 55
Hyperlipidemia Due to Htgl Deficiency 49 55
Hyperlipidemia Due to Hl Deficiency 49 55
Hmg Coa Lyase Deficiency 69
Lipase, Hepatic 13

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
hepatic lipase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 614025
Orphanet 55 ORPHA140905
ICD10 via Orphanet 33 E78.4
MedGen 39 C3151466
MeSH 41 D008052

Summaries for Hepatic Lipase Deficiency

NIH Rare Diseases : 49 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 hypoalphalipoproteinemia, primary and 3-hydroxy-3-methylglutaryl-coa lyase deficiency, and has symptoms including angina pectoris, hypertriglyceridemia 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. Affiliated tissues include liver, heart and adrenal gland, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

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.

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 : 72 Hepatic lipase, also called hepatic triglyceride lipase (HTGL) or LIPC (for \"lipase, hepatic\"), is a... 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 48)
# Related Disease Score Top Affiliating Genes
1 hypoalphalipoproteinemia, primary 29.1 APOA1 LIPC LPL
2 3-hydroxy-3-methylglutaryl-coa lyase deficiency 11.1
3 hepatitis 10.5
4 lipase deficiency, combined 10.1 LIPC LPL
5 nodular nonsuppurative panniculitis 10.1 LIPC PNLIP
6 pancreatitis, hereditary 9.9 LPL PNLIP
7 acute pancreatitis 9.9 LPL PNLIP
8 hyperlipoproteinemia, type v 9.8 APOE LPL
9 recurrent acute pancreatitis 9.8 APOE LPL
10 pancreatitis 9.8 LPL PNLIP
11 xanthomatosis 9.8 APOE LPL
12 familial lipoprotein lipase deficiency 9.8 LIPC LPL PNLIP
13 familial lcat deficiency 9.8 APOA1 APOE
14 cerebral atherosclerosis 9.8 APOA1 APOE
15 leukodystrophy, hypomyelinating, 3 9.7 APOA1 APOE
16 hypobetalipoproteinemia, familial, 1 9.7 APOA1 APOE
17 mental retardation, x-linked, syndromic, snyder-robinson type 9.7
18 myocardial infarction 9.7
19 fatty liver disease, nonalcoholic 1 9.7
20 glucose intolerance 9.7
21 arcus corneae 9.7 APOA1 APOE
22 coronary stenosis 9.7 APOA1 APOE
23 carotid artery disease 9.7 APOA1 APOE
24 gallbladder disease 9.7 APOA1 APOE
25 tangier disease 9.7 APOA1 APOE
26 arteries, anomalies of 9.6 APOA1 APOE
27 arteriosclerosis 9.6 APOA1 APOE
28 homozygous familial hypercholesterolemia 9.5 APOE LIPC LPL
29 amyloidosis 9.4 APOA1 APOE
30 ischemic heart disease 9.4 APOA1 APOE LPL
31 hypolipoproteinemia 9.4 APOA1 APOE LPL
32 hyperlipidemia, familial combined 9.4 APOA1 APOE LPL
33 abetalipoproteinemia 9.4 APOA1 APOE LPL
34 lecithin:cholesterol acyltransferase deficiency 9.4 APOA1 APOE LPL
35 atherosclerosis susceptibility 9.4 APOA1 APOE LPL
36 vascular disease 9.4 APOA1 APOE LPL
37 cerebrovascular disease 9.3 APOA1 APOE
38 hyperlipoproteinemia, type iv 9.1 APOA1 APOE LIPC LPL
39 hypertriglyceridemia, familial 9.1 APOA1 APOE LIPC LPL
40 hyperlipoproteinemia, type iii 9.1 APOA1 APOE LIPC LPL
41 hyperalphalipoproteinemia 1 9.1 APOA1 APOE LIPC LPL
42 coronary heart disease 1 9.1 APOA1 APOE LIPC LPL
43 familial hyperlipidemia 9.1 APOA1 APOE LIPC LPL
44 lipid metabolism disorder 9.1 APOA1 APOE LIPC LPL
45 coronary artery anomaly 9.1 APOA1 APOE LIPC LPL
46 hypercholesterolemia, familial 9.1 APOA1 APOE LIPC LPL
47 diabetes mellitus, noninsulin-dependent 9.0 APOA1 APOE LIPC LPL
48 body mass index quantitative trait locus 11 8.7 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:

53
Cardiovascular Heart:
angina pectoris

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

Skin Nails Hair Skin:
eruptive xanthomas
palmar xanthomas


Clinical features from OMIM:

614025

Human phenotypes related to Hepatic Lipase Deficiency:

55 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 angina pectoris 55 31 frequent (33%) Frequent (79-30%) HP:0001681
2 hypertriglyceridemia 55 31 obligate (100%) Obligate (100%) HP:0002155
3 eruptive xanthomas 55 31 hallmark (90%) Very frequent (99-80%) HP:0001013
4 hyperalphalipoproteinemia 55 Obligate (100%)
5 premature coronary artery disease 55 Frequent (79-30%)
6 increased circulating high-density lipoprotein levels 31 obligate (100%) HP:0012184
7 premature coronary artery atherosclerosis 31 frequent (33%) HP:0005181

UMLS symptoms related to Hepatic Lipase Deficiency:


angina pectoris

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

25
# 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:

43
# 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

Search Clinical Trials , NIH Clinical Center for Hepatic Lipase Deficiency

Genetic Tests for Hepatic Lipase Deficiency

Genetic tests related to Hepatic Lipase Deficiency:

# Genetic test Affiliating Genes
1 Hepatic Lipase Deficiency 28 LIPC

Anatomical Context for Hepatic Lipase Deficiency

MalaCards organs/tissues related to Hepatic Lipase Deficiency:

38
Liver, Heart, Adrenal Gland

Publications for Hepatic Lipase Deficiency

Articles related to Hepatic Lipase Deficiency:

(show all 31)
# 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
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
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
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
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
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

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

71
# 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
# 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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 APOA1 APOE LIPC LPL PNLIP
2
Show member pathways
12.23 APOA1 APOE LPL PNLIP
3
Show member pathways
11.79 APOA1 APOE LPL PNLIP
4 11.65 APOA1 APOE
5
Show member pathways
11.56 APOA1 APOE LIPC LPL PNLIP
6
Show member pathways
11.55 APOA1 APOE
7 11.37 APOA1 LPL
8
Show member pathways
11.34 LIPC LPL
9
Show member pathways
11.33 APOA1 APOE LIPC LPL
10
Show member pathways
11.22 LIPC PNLIP
11 11.22 LIPC LPL PNLIP
12
Show member pathways
11.18 LIPC LPL
13
Show member pathways
11.08 APOA1 PNLIP
14 10.78 APOA1 PNLIP
15 10.41 LIPC PNLIP

GO Terms for Hepatic Lipase Deficiency

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.85 APOA1 APOE LIPC LPL PNLIP
2 extracellular space GO:0005615 9.77 APOA1 APOE LIPC LPL PNLIP
3 extracellular matrix GO:0031012 9.67 APOA1 APOE LPL
4 endoplasmic reticulum lumen GO:0005788 9.65 APOA1 APOE LIPC
5 extracellular vesicle GO:1903561 9.51 APOA1 APOE
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 discoidal high-density lipoprotein particle GO:0034365 9.26 APOA1 APOE
11 very-low-density lipoprotein particle GO:0034361 9.13 APOA1 APOE LPL
12 chylomicron GO:0042627 8.8 APOA1 APOE LPL

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

(show all 30)
# 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 steroid metabolic process GO:0008202 9.65 APOA1 APOE
4 cholesterol metabolic process GO:0008203 9.65 APOA1 APOE LIPC
5 negative regulation of inflammatory response GO:0050728 9.64 APOA1 APOE
6 fatty acid biosynthetic process GO:0006633 9.64 LIPC LPL
7 phospholipid metabolic process GO:0006644 9.63 APOA1 LPL
8 triglyceride metabolic process GO:0006641 9.63 APOE LPL
9 cholesterol transport GO:0030301 9.62 APOA1 LIPC
10 lipoprotein metabolic process GO:0042157 9.62 APOA1 APOE
11 cholesterol homeostasis GO:0042632 9.62 APOA1 APOE LIPC LPL
12 cholesterol efflux GO:0033344 9.61 APOA1 APOE
13 high-density lipoprotein particle assembly GO:0034380 9.61 APOA1 APOE
14 reverse cholesterol transport GO:0043691 9.61 APOA1 APOE LIPC
15 low-density lipoprotein particle remodeling GO:0034374 9.6 APOE LIPC
16 phospholipid efflux GO:0033700 9.59 APOA1 APOE
17 chylomicron assembly GO:0034378 9.58 APOA1 APOE
18 regulation of lipoprotein lipase activity GO:0051004 9.58 LIPC LPL
19 high-density lipoprotein particle remodeling GO:0034375 9.58 APOA1 APOE LIPC
20 positive regulation of cholesterol esterification GO:0010873 9.57 APOA1 APOE
21 high-density lipoprotein particle clearance GO:0034384 9.56 APOA1 APOE
22 chylomicron remnant clearance GO:0034382 9.54 APOE LIPC
23 chylomicron remodeling GO:0034371 9.54 APOA1 APOE LPL
24 neuron projection regeneration GO:0031102 9.52 APOA1 APOE
25 regulation of Cdc42 protein signal transduction GO:0032489 9.51 APOA1 APOE
26 lipoprotein biosynthetic process GO:0042158 9.49 APOA1 APOE
27 retinoid metabolic process GO:0001523 9.46 APOA1 APOE LPL PNLIP
28 very-low-density lipoprotein particle remodeling GO:0034372 9.43 APOE LIPC LPL
29 triglyceride homeostasis GO:0070328 9.26 APOA1 APOE LIPC LPL
30 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)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.54 APOE LIPC LPL
2 phospholipid binding GO:0005543 9.52 APOA1 APOE
3 amyloid-beta 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 9.4 LIPC LPL
9 lipase activity GO:0016298 9.32 LIPC PNLIP
10 lipoprotein particle binding GO:0071813 9.26 APOA1 APOE
11 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.16 APOA1 APOE
12 carboxylic ester hydrolase activity GO:0052689 9.13 LIPC LPL PNLIP
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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