MCID: HPT025
MIFTS: 47

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 57 53 25 75 29 13 6 40 73
Hyperlipidemia Due to Hepatic Triglyceride Lipase Deficiency 53 25 59
Lipc Deficiency 57 53 25
Hl Deficiency 57 25 75
Hyperlipidemia Due to Hepatic Triacylglycerol Lipase Deficiency 53 59
Hyperlipidemia Due to Hepatic Lipase Deficiency 53 59
Hyperlipidemia Due to Htgl Deficiency 53 59
Hyperlipidemia Due to Hl Deficiency 53 59
Hmg Coa Lyase Deficiency 73
Lipase, Hepatic 13

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hepatic lipase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614025
Orphanet 59 ORPHA140905
ICD10 via Orphanet 34 E78.4
MedGen 42 C3151466
MeSH 44 D008052

Summaries for Hepatic Lipase Deficiency

NIH Rare Diseases : 53 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.

MalaCards based summary : Hepatic Lipase Deficiency, also known as hyperlipidemia due to hepatic triglyceride lipase deficiency, is related to 3-hydroxy-3-methylglutaryl-coa lyase deficiency and hepatitis, and has symptoms including angina pectoris 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, endothelial and heart, and related phenotypes are hypertriglyceridemia and eruptive xanthomas

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 : 75 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 : 76 Hepatic lipase (HL), also called hepatic triglyceride lipase (HTGL) or LIPC (for \"lipase, hepatic\"),... 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 49)
# Related Disease Score Top Affiliating Genes
1 3-hydroxy-3-methylglutaryl-coa lyase deficiency 11.1
2 hepatitis 10.5
3 lipase deficiency, combined 10.2 LIPC LPL
4 hyperlipidemia, combined, 1 10.2 LIPC LPL
5 nodular nonsuppurative panniculitis 10.1 LIPC PNLIP
6 bardet-biedl syndrome 2 9.9 APOA1 LPL
7 acute pancreatitis 9.9 LPL PNLIP
8 hyperlipoproteinemia, type v 9.8 APOE LPL
9 recurrent acute pancreatitis 9.7 APOE LPL
10 myocardial infarction 9.7
11 fatty liver disease, nonalcoholic 1 9.7
12 glucose intolerance 9.7
13 xanthomatosis 9.7 APOE LPL
14 familial lipoprotein lipase deficiency 9.7 LIPC LPL PNLIP
15 familial lcat deficiency 9.7 APOA1 APOE
16 cerebral atherosclerosis 9.6 APOA1 APOE
17 leukodystrophy, hypomyelinating, 3 9.6 APOA1 APOE
18 hypobetalipoproteinemia, familial, 1 9.6 APOA1 APOE
19 arcus corneae 9.6 APOA1 APOE
20 coronary stenosis 9.5 APOA1 APOE
21 hypoalphalipoproteinemia, primary 9.5 APOA1 LIPC LPL
22 hypertriglyceridemia, familial 9.5 APOA1 LIPC LPL
23 carotid artery disease 9.5 APOA1 APOE
24 gallbladder disease 9.5 APOA1 APOE
25 arteries, anomalies of 9.5 APOA1 APOE
26 atherosclerosis susceptibility 9.4 APOA1 APOE
27 pancreatitis 9.3 LPL PNLIP
28 arteriosclerosis 9.3 APOA1 APOE
29 homozygous familial hypercholesterolemia 9.3 APOE LIPC LPL
30 amyloidosis 9.2 APOA1 APOE
31 cerebrovascular disease 9.1 APOA1 APOE
32 hyperlipidemia, familial combined 9.1 APOA1 APOE LPL
33 ischemic heart disease 9.1 APOA1 APOE LPL
34 hypolipoproteinemia 9.1 APOA1 APOE LPL
35 abetalipoproteinemia 9.1 APOA1 APOE LPL
36 lecithin:cholesterol acyltransferase deficiency 9.1 APOA1 APOE LPL
37 tangier disease 9.1 APOA1 APOE LPL
38 vascular disease 9.0 APOA1 APOE LPL
39 heart disease 8.8 APOA1 APOE LPL
40 hyperlipoproteinemia, type iv 8.6 APOA1 APOE LIPC LPL
41 hyperlipoproteinemia, type iii 8.6 APOA1 APOE LIPC LPL
42 hyperalphalipoproteinemia 1 8.6 APOA1 APOE LIPC LPL
43 coronary heart disease 1 8.6 APOA1 APOE LIPC LPL
44 familial hyperlipidemia 8.6 APOA1 APOE LIPC LPL
45 lipid metabolism disorder 8.6 APOA1 APOE LIPC LPL
46 hypercholesterolemia, familial 8.6 APOA1 APOE LIPC LPL
47 coronary artery anomaly 8.5 APOA1 APOE LIPC LPL
48 diabetes mellitus, noninsulin-dependent 8.5 APOA1 APOE LIPC LPL
49 body mass index quantitative trait locus 11 7.9 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:

57
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:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia 59 32 obligate (100%) Obligate (100%) HP:0002155
2 eruptive xanthomas 59 32 hallmark (90%) Very frequent (99-80%) HP:0001013
3 angina pectoris 59 32 frequent (33%) Frequent (79-30%) HP:0001681
4 hyperalphalipoproteinemia 59 Obligate (100%)
5 premature coronary artery disease 59 Frequent (79-30%)
6 premature coronary artery atherosclerosis 32 frequent (33%) HP:0005181
7 increased hdl cholesterol concentration 32 obligate (100%) HP:0012184

UMLS symptoms related to Hepatic Lipase Deficiency:


angina pectoris

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

26
# 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:

46
# 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 29 LIPC

Anatomical Context for Hepatic Lipase Deficiency

MalaCards organs/tissues related to Hepatic Lipase Deficiency:

41
Liver, Endothelial, Heart

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
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
Lipoprotein metabolism in subjects with hepatic lipase deficiency. ( 15045702 )
2004
8
Evidence that hepatic lipase deficiency in humans is not associated with proatherogenic changes in HDL composition and metabolism. ( 15175359 )
2004
9
Severe hypoalphalipoproteinemia in mice expressing human hepatic lipase deficient in binding to heparan sulfate proteoglycan. ( 15292235 )
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
Effects of short-term stanozolol administration on serum lipoproteins in hepatic lipase deficiency. ( 9284885 )
1997
16
Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene. ( 9050773 )
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
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:

75
# 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
(show top 50) (show all 59)
# 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 NM_000236.2(LIPC): c.1214C> T (p.Thr405Met) single nucleotide variant Pathogenic rs113298164 GRCh38 Chromosome 15, 58563549: 58563549
3 LIPC LIPC, ALA174THR single nucleotide variant Pathogenic
4 LIPC NM_000236.2(LIPC): c.465G> T (p.Val155=) single nucleotide variant Benign rs690 GRCh38 Chromosome 15, 58542542: 58542542
5 LIPC NM_000236.2(LIPC): c.465G> T (p.Val155=) single nucleotide variant Benign rs690 GRCh37 Chromosome 15, 58834741: 58834741
6 LIPC NM_000236.2(LIPC): c.672C> G (p.Thr224=) single nucleotide variant Benign rs6084 GRCh37 Chromosome 15, 58838038: 58838038
7 LIPC NM_000236.2(LIPC): c.672C> G (p.Thr224=) single nucleotide variant Benign rs6084 GRCh38 Chromosome 15, 58545839: 58545839
8 LIPC NM_000236.2(LIPC): c.739G> A (p.Gly247Arg) single nucleotide variant Uncertain significance rs371573112 GRCh37 Chromosome 15, 58838105: 58838105
9 LIPC NM_000236.2(LIPC): c.739G> A (p.Gly247Arg) single nucleotide variant Uncertain significance rs371573112 GRCh38 Chromosome 15, 58545906: 58545906
10 LIPC NM_000236.2(LIPC): c.1068C> A (p.Phe356Leu) single nucleotide variant Benign rs3829462 GRCh38 Chromosome 15, 58560880: 58560880
11 LIPC NM_000236.2(LIPC): c.1068C> A (p.Phe356Leu) single nucleotide variant Benign rs3829462 GRCh37 Chromosome 15, 58853079: 58853079
12 LIPC NM_000236.2(LIPC): c.1233C> T (p.Gly411=) single nucleotide variant Uncertain significance rs79985029 GRCh38 Chromosome 15, 58563568: 58563568
13 LIPC NM_000236.2(LIPC): c.1233C> T (p.Gly411=) single nucleotide variant Uncertain significance rs79985029 GRCh37 Chromosome 15, 58855767: 58855767
14 LIPC NM_000236.2(LIPC): c.1341C> T (p.Gly447=) single nucleotide variant Uncertain significance rs200353965 GRCh38 Chromosome 15, 58563676: 58563676
15 LIPC NM_000236.2(LIPC): c.1341C> T (p.Gly447=) single nucleotide variant Uncertain significance rs200353965 GRCh37 Chromosome 15, 58855875: 58855875
16 LIPC NM_000236.2(LIPC): c.316G> A (p.Ala106Thr) single nucleotide variant Uncertain significance rs141018530 GRCh38 Chromosome 15, 58541827: 58541827
17 LIPC NM_000236.2(LIPC): c.316G> A (p.Ala106Thr) single nucleotide variant Uncertain significance rs141018530 GRCh37 Chromosome 15, 58834026: 58834026
18 LIPC NM_000236.2(LIPC): c.591A> G (p.Gly197=) single nucleotide variant Benign rs6082 GRCh37 Chromosome 15, 58837957: 58837957
19 LIPC NM_000236.2(LIPC): c.591A> G (p.Gly197=) single nucleotide variant Benign rs6082 GRCh38 Chromosome 15, 58545758: 58545758
20 LIPC NM_000236.2(LIPC): c.998G> A (p.Arg333Gln) single nucleotide variant Uncertain significance rs200889722 GRCh38 Chromosome 15, 58548519: 58548519
21 LIPC NM_000236.2(LIPC): c.998G> A (p.Arg333Gln) single nucleotide variant Uncertain significance rs200889722 GRCh37 Chromosome 15, 58840718: 58840718
22 LIPC NM_000236.2(LIPC): c.1052-10C> G single nucleotide variant Uncertain significance rs58453124 GRCh38 Chromosome 15, 58560854: 58560854
23 LIPC NM_000236.2(LIPC): c.1052-10C> G single nucleotide variant Uncertain significance rs58453124 GRCh37 Chromosome 15, 58853053: 58853053
24 LIPC NM_000236.2(LIPC): c.1169+11G> A single nucleotide variant Uncertain significance rs762534927 GRCh38 Chromosome 15, 58560992: 58560992
25 LIPC NM_000236.2(LIPC): c.1169+11G> A single nucleotide variant Uncertain significance rs762534927 GRCh37 Chromosome 15, 58853191: 58853191
26 LIPC NM_000236.2(LIPC): c.264C> T (p.His88=) single nucleotide variant Likely benign rs7175412 GRCh38 Chromosome 15, 58538508: 58538508
27 LIPC NM_000236.2(LIPC): c.264C> T (p.His88=) single nucleotide variant Likely benign rs7175412 GRCh37 Chromosome 15, 58830707: 58830707
28 LIPC NM_000236.2(LIPC): c.283G> A (p.Val95Met) single nucleotide variant Benign rs6078 GRCh38 Chromosome 15, 58541794: 58541794
29 LIPC NM_000236.2(LIPC): c.283G> A (p.Val95Met) single nucleotide variant Benign rs6078 GRCh37 Chromosome 15, 58833993: 58833993
30 LIPC NM_000236.2(LIPC): c.461C> A (p.Ser154Tyr) single nucleotide variant Uncertain significance rs756518358 GRCh38 Chromosome 15, 58542538: 58542538
31 LIPC NM_000236.2(LIPC): c.461C> A (p.Ser154Tyr) single nucleotide variant Uncertain significance rs756518358 GRCh37 Chromosome 15, 58834737: 58834737
32 LIPC NM_000236.2(LIPC): c.867C> T (p.Ser289=) single nucleotide variant Uncertain significance rs765258214 GRCh38 Chromosome 15, 58548388: 58548388
33 LIPC NM_000236.2(LIPC): c.867C> T (p.Ser289=) single nucleotide variant Uncertain significance rs765258214 GRCh37 Chromosome 15, 58840587: 58840587
34 LIPC NM_000236.2(LIPC): c.1052-4_1052-3dupCT duplication Uncertain significance rs886051318 GRCh38 Chromosome 15, 58560860: 58560861
35 LIPC NM_000236.2(LIPC): c.1052-4_1052-3dupCT duplication Uncertain significance rs886051318 GRCh37 Chromosome 15, 58853059: 58853060
36 LIPC NM_000236.2(LIPC): c.1064A> G (p.Gln355Arg) single nucleotide variant Likely benign rs140272400 GRCh38 Chromosome 15, 58560876: 58560876
37 LIPC NM_000236.2(LIPC): c.1064A> G (p.Gln355Arg) single nucleotide variant Likely benign rs140272400 GRCh37 Chromosome 15, 58853075: 58853075
38 LIPC NM_000236.2(LIPC): c.1098A> G (p.Thr366=) single nucleotide variant Benign rs3829461 GRCh38 Chromosome 15, 58560910: 58560910
39 LIPC NM_000236.2(LIPC): c.1098A> G (p.Thr366=) single nucleotide variant Benign rs3829461 GRCh37 Chromosome 15, 58853109: 58853109
40 LIPC NM_000236.2(LIPC): c.1203C> T (p.Ser401=) single nucleotide variant Uncertain significance rs768982423 GRCh38 Chromosome 15, 58563538: 58563538
41 LIPC NM_000236.2(LIPC): c.1203C> T (p.Ser401=) single nucleotide variant Uncertain significance rs768982423 GRCh37 Chromosome 15, 58855737: 58855737
42 LIPC NM_000236.2(LIPC): c.1231G> A (p.Gly411Ser) single nucleotide variant Uncertain significance rs559266901 GRCh38 Chromosome 15, 58563566: 58563566
43 LIPC NM_000236.2(LIPC): c.1231G> A (p.Gly411Ser) single nucleotide variant Uncertain significance rs559266901 GRCh37 Chromosome 15, 58855765: 58855765
44 LIPC NM_000236.2(LIPC): c.206C> T (p.Pro69Leu) single nucleotide variant Uncertain significance rs143550925 GRCh38 Chromosome 15, 58538450: 58538450
45 LIPC NM_000236.2(LIPC): c.206C> T (p.Pro69Leu) single nucleotide variant Uncertain significance rs143550925 GRCh37 Chromosome 15, 58830649: 58830649
46 LIPC NM_000236.2(LIPC): c.317C> T (p.Ala106Val) single nucleotide variant Uncertain significance rs182603751 GRCh38 Chromosome 15, 58541828: 58541828
47 LIPC NM_000236.2(LIPC): c.317C> T (p.Ala106Val) single nucleotide variant Uncertain significance rs182603751 GRCh37 Chromosome 15, 58834027: 58834027
48 LIPC NM_000236.2(LIPC): c.575-8C> A single nucleotide variant Likely benign rs6080 GRCh38 Chromosome 15, 58545734: 58545734
49 LIPC NM_000236.2(LIPC): c.575-8C> A single nucleotide variant Likely benign rs6080 GRCh37 Chromosome 15, 58837933: 58837933
50 LIPC NM_000236.2(LIPC): c.575-5A> G single nucleotide variant Uncertain significance rs777246707 GRCh38 Chromosome 15, 58545737: 58545737

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 endoplasmic reticulum lumen GO:0005788 9.67 APOA1 APOE LIPC
4 extracellular matrix GO:0031012 9.65 APOA1 APOE LPL
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 33)
# 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 9.73 LIPC LPL PNLIP
3 cholesterol homeostasis GO:0042632 9.67 APOA1 APOE LIPC LPL
4 steroid metabolic process GO:0008202 9.66 APOA1 APOE
5 negative regulation of inflammatory response GO:0050728 9.65 APOA1 APOE
6 phospholipid metabolic process GO:0006644 9.65 APOA1 LPL
7 fatty acid biosynthetic process GO:0006633 9.65 LIPC LPL
8 cholesterol metabolic process GO:0008203 9.65 APOA1 APOE LIPC
9 cholesterol biosynthetic process GO:0006695 9.64 APOA1 APOE
10 triglyceride metabolic process GO:0006641 9.64 APOE LPL
11 cholesterol transport GO:0030301 9.63 APOA1 LIPC
12 cholesterol efflux GO:0033344 9.63 APOA1 APOE
13 lipoprotein metabolic process GO:0042157 9.62 APOA1 APOE
14 positive regulation of lipid biosynthetic process GO:0046889 9.62 APOA1 APOE
15 high-density lipoprotein particle assembly GO:0034380 9.61 APOA1 APOE
16 low-density lipoprotein particle remodeling GO:0034374 9.61 APOE LIPC
17 reverse cholesterol transport GO:0043691 9.61 APOA1 APOE LIPC
18 phospholipid efflux GO:0033700 9.6 APOA1 APOE
19 chylomicron assembly GO:0034378 9.59 APOA1 APOE
20 positive regulation of cholesterol esterification GO:0010873 9.58 APOA1 APOE
21 high-density lipoprotein particle clearance GO:0034384 9.58 APOA1 APOE
22 high-density lipoprotein particle remodeling GO:0034375 9.58 APOA1 APOE LIPC
23 regulation of lipoprotein lipase activity GO:0051004 9.57 LIPC LPL
24 retinoid metabolic process GO:0001523 9.56 APOA1 APOE LPL PNLIP
25 neuron projection regeneration GO:0031102 9.55 APOA1 APOE
26 chylomicron remnant clearance GO:0034382 9.54 APOE LIPC
27 regulation of cholesterol transport GO:0032374 9.52 APOA1 APOE
28 regulation of Cdc42 protein signal transduction GO:0032489 9.51 APOA1 APOE
29 chylomicron remodeling GO:0034371 9.5 APOA1 APOE LPL
30 lipoprotein biosynthetic process GO:0042158 9.49 APOA1 APOE
31 triglyceride homeostasis GO:0070328 9.46 APOA1 APOE LIPC LPL
32 triglyceride catabolic process GO:0019433 9.26 APOA1 APOE LIPC LPL
33 very-low-density lipoprotein particle remodeling GO:0034372 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 phospholipid binding GO:0005543 9.52 APOA1 APOE
2 amyloid-beta binding GO:0001540 9.51 APOA1 APOE
3 heparin binding GO:0008201 9.5 APOE LIPC LPL
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 lipase activity GO:0016298 9.43 LIPC PNLIP
8 apolipoprotein binding GO:0034185 9.4 LIPC LPL
9 phospholipase activity GO:0004620 9.37 LIPC LPL
10 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.26 APOA1 APOE
11 lipoprotein particle binding GO:0071813 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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