HL DEFICIENCY
MCID: HPT025
MIFTS: 52

Hepatic Lipase Deficiency (HL DEFICIENCY)

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare 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 lipase deficiency, combined and 3-hydroxy-3-methylglutaryl-coa lyase deficiency, 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, heart and endothelial, and related phenotypes are hypertriglyceridemia and angina pectoris

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"), is... 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 lipase deficiency, combined 32.0 LIPC LPL
2 3-hydroxy-3-methylglutaryl-coa lyase deficiency 11.3
3 hyperlipidemia, combined, 1 10.1 LIPC LPL
4 acute pancreatitis 10.0 LPL PNLIP
5 pancreatitis 10.0 LPL PNLIP
6 nodular nonsuppurative panniculitis 10.0 LIPC PNLIP
7 hyperlipidemia, familial combined 10.0 APOA1 LPL
8 hypobetalipoproteinemia, familial, 2 10.0 APOA1 LPL
9 bardet-biedl syndrome 2 10.0 APOA1 LPL
10 homozygous familial hypercholesterolemia 9.9 APOE LIPC
11 recurrent acute pancreatitis 9.9 APOE LPL
12 xanthomatosis 9.9 APOE LPL
13 coronary artery anomaly 9.9 APOA1 LPL
14 familial lcat deficiency 9.9 APOA1 APOE
15 familial lipoprotein lipase deficiency 9.9 LIPC LPL PNLIP
16 cerebral atherosclerosis 9.9 APOA1 APOE
17 leukodystrophy, hypomyelinating, 3 9.9 APOA1 APOE
18 myocardial infarction 9.9
19 fatty liver disease, nonalcoholic 1 9.9
20 glucose intolerance 9.9
21 arcus corneae 9.8 APOA1 APOE
22 hypoalphalipoproteinemia, primary 9.8 APOA1 LIPC LPL
23 coronary stenosis 9.8 APOA1 APOE
24 diabetes mellitus 9.8 APOA1 LIPC LPL
25 carotid artery disease 9.8 APOA1 APOE
26 gallbladder disease 9.8 APOA1 APOE
27 arteries, anomalies of 9.8 APOA1 APOE
28 atherosclerosis susceptibility 9.8 APOA1 APOE
29 arteriosclerosis 9.8 APOA1 APOE
30 amyloidosis 9.7 APOA1 APOE
31 heart disease 9.7 APOA1 APOE LPL
32 hyperlipoproteinemia, type v 9.7 APOA1 APOE LPL
33 ischemic heart disease 9.7 APOA1 APOE LPL
34 hypolipoproteinemia 9.7 APOA1 APOE LPL
35 lecithin:cholesterol acyltransferase deficiency 9.7 APOA1 APOE LPL
36 abetalipoproteinemia 9.7 APOA1 APOE LPL
37 tangier disease 9.7 APOA1 APOE LPL
38 vascular disease 9.7 APOA1 APOE LPL
39 cerebrovascular disease 9.6 APOA1 APOE
40 hypertriglyceridemia, familial 9.6 APOA1 APOE LIPC LPL
41 hyperlipoproteinemia, type iii 9.6 APOA1 APOE LIPC LPL
42 hyperalphalipoproteinemia 1 9.5 APOA1 APOE LIPC LPL
43 familial hyperlipidemia 9.5 APOA1 APOE LIPC LPL
44 lipid metabolism disorder 9.5 APOA1 APOE LIPC LPL
45 coronary heart disease 1 9.5 APOA1 APOE LIPC LPL
46 hypercholesterolemia, familial 9.5 APOA1 APOE LIPC LPL
47 diabetes mellitus, noninsulin-dependent 9.5 APOA1 APOE LIPC LPL
48 body mass index quantitative trait locus 11 9.4 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 angina pectoris 59 32 frequent (33%) Frequent (79-30%) HP:0001681
3 eruptive xanthomas 59 32 hallmark (90%) Very frequent (99-80%) HP:0001013
4 hyperalphalipoproteinemia 59 Obligate (100%)
5 premature coronary artery disease 59 Frequent (79-30%)
6 increased hdl cholesterol concentration 32 obligate (100%) HP:0012184
7 premature coronary artery atherosclerosis 32 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:

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, Heart, Endothelial

Publications for Hepatic Lipase Deficiency

Articles related to Hepatic Lipase Deficiency:

(show all 27)
# 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
Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians. ( 12777476 )
2003
10
Hepatic lipase deficiency attenuates mouse ovarian progesterone production leading to decreased ovulation and reduced litter size. ( 11906928 )
2002
11
Hepatic lipase deficiency decreases the selective uptake of HDL-cholesteryl esters in vivo. ( 10787427 )
2000
12
Atorvastatin in the management of an index patient with complete hepatic lipase deficiency. ( 10208500 )
1999
13
Hepatic lipase deficiency. ( 9885775 )
1998
14
Effects of short-term stanozolol administration on serum lipoproteins in hepatic lipase deficiency. ( 9284885 )
1997
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
Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations. ( 8123642 )
1994
18
Beta-VLDL in hepatic lipase deficiency induces apoE-mediated cholesterol ester accumulation in macrophages. ( 8364012 )
1993
19
Hepatic lipase deficiency. Clinical, biochemical, and molecular genetic characteristics. ( 8485124 )
1993
20
The molecular basis of hepatic lipase deficiency. ( 1933710 )
1991
21
Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency. ( 1883393 )
1991
22
Plasma lipoproteins in familial hepatic lipase deficiency. ( 2297346 )
1990
23
Large buoyant LDL-like particles in hepatic lipase deficiency. ( 2719594 )
1989
24
The rabbit as an animal model of hepatic lipase deficiency. ( 2930766 )
1989
25
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
26
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
27
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 61)
# 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 NM_000236.2(LIPC): c.866C> T (p.Ser289Phe) single nucleotide variant Uncertain significance rs121912502 GRCh37 Chromosome 15, 58840586: 58840586
4 LIPC NM_000236.2(LIPC): c.866C> T (p.Ser289Phe) single nucleotide variant Uncertain significance rs121912502 GRCh38 Chromosome 15, 58548387: 58548387
5 LIPC LIPC, ALA174THR single nucleotide variant Pathogenic
6 LIPC NM_000236.2(LIPC): c.465G> T (p.Val155=) single nucleotide variant Benign rs690 GRCh38 Chromosome 15, 58542542: 58542542
7 LIPC NM_000236.2(LIPC): c.465G> T (p.Val155=) single nucleotide variant Benign rs690 GRCh37 Chromosome 15, 58834741: 58834741
8 LIPC NM_000236.2(LIPC): c.672C> G (p.Thr224=) single nucleotide variant Benign rs6084 GRCh37 Chromosome 15, 58838038: 58838038
9 LIPC NM_000236.2(LIPC): c.672C> G (p.Thr224=) single nucleotide variant Benign rs6084 GRCh38 Chromosome 15, 58545839: 58545839
10 LIPC NM_000236.2(LIPC): c.739G> A (p.Gly247Arg) single nucleotide variant Uncertain significance rs371573112 GRCh37 Chromosome 15, 58838105: 58838105
11 LIPC NM_000236.2(LIPC): c.739G> A (p.Gly247Arg) single nucleotide variant Uncertain significance rs371573112 GRCh38 Chromosome 15, 58545906: 58545906
12 LIPC NM_000236.2(LIPC): c.1068C> A (p.Phe356Leu) single nucleotide variant Benign rs3829462 GRCh38 Chromosome 15, 58560880: 58560880
13 LIPC NM_000236.2(LIPC): c.1068C> A (p.Phe356Leu) single nucleotide variant Benign rs3829462 GRCh37 Chromosome 15, 58853079: 58853079
14 LIPC NM_000236.2(LIPC): c.1233C> T (p.Gly411=) single nucleotide variant Uncertain significance rs79985029 GRCh38 Chromosome 15, 58563568: 58563568
15 LIPC NM_000236.2(LIPC): c.1233C> T (p.Gly411=) single nucleotide variant Uncertain significance rs79985029 GRCh37 Chromosome 15, 58855767: 58855767
16 LIPC NM_000236.2(LIPC): c.1341C> T (p.Gly447=) single nucleotide variant Uncertain significance rs200353965 GRCh38 Chromosome 15, 58563676: 58563676
17 LIPC NM_000236.2(LIPC): c.1341C> T (p.Gly447=) single nucleotide variant Uncertain significance rs200353965 GRCh37 Chromosome 15, 58855875: 58855875
18 LIPC NM_000236.2(LIPC): c.316G> A (p.Ala106Thr) single nucleotide variant Uncertain significance rs141018530 GRCh38 Chromosome 15, 58541827: 58541827
19 LIPC NM_000236.2(LIPC): c.316G> A (p.Ala106Thr) single nucleotide variant Uncertain significance rs141018530 GRCh37 Chromosome 15, 58834026: 58834026
20 LIPC NM_000236.2(LIPC): c.591A> G (p.Gly197=) single nucleotide variant Benign rs6082 GRCh37 Chromosome 15, 58837957: 58837957
21 LIPC NM_000236.2(LIPC): c.591A> G (p.Gly197=) single nucleotide variant Benign rs6082 GRCh38 Chromosome 15, 58545758: 58545758
22 LIPC NM_000236.2(LIPC): c.998G> A (p.Arg333Gln) single nucleotide variant Uncertain significance rs200889722 GRCh38 Chromosome 15, 58548519: 58548519
23 LIPC NM_000236.2(LIPC): c.998G> A (p.Arg333Gln) single nucleotide variant Uncertain significance rs200889722 GRCh37 Chromosome 15, 58840718: 58840718
24 LIPC NM_000236.2(LIPC): c.1052-10C> G single nucleotide variant Uncertain significance rs58453124 GRCh38 Chromosome 15, 58560854: 58560854
25 LIPC NM_000236.2(LIPC): c.1052-10C> G single nucleotide variant Uncertain significance rs58453124 GRCh37 Chromosome 15, 58853053: 58853053
26 LIPC NM_000236.2(LIPC): c.1169+11G> A single nucleotide variant Uncertain significance rs762534927 GRCh38 Chromosome 15, 58560992: 58560992
27 LIPC NM_000236.2(LIPC): c.1169+11G> A single nucleotide variant Uncertain significance rs762534927 GRCh37 Chromosome 15, 58853191: 58853191
28 LIPC NM_000236.2(LIPC): c.264C> T (p.His88=) single nucleotide variant Likely benign rs7175412 GRCh38 Chromosome 15, 58538508: 58538508
29 LIPC NM_000236.2(LIPC): c.264C> T (p.His88=) single nucleotide variant Likely benign rs7175412 GRCh37 Chromosome 15, 58830707: 58830707
30 LIPC NM_000236.2(LIPC): c.283G> A (p.Val95Met) single nucleotide variant Benign rs6078 GRCh38 Chromosome 15, 58541794: 58541794
31 LIPC NM_000236.2(LIPC): c.283G> A (p.Val95Met) single nucleotide variant Benign rs6078 GRCh37 Chromosome 15, 58833993: 58833993
32 LIPC NM_000236.2(LIPC): c.461C> A (p.Ser154Tyr) single nucleotide variant Uncertain significance rs756518358 GRCh38 Chromosome 15, 58542538: 58542538
33 LIPC NM_000236.2(LIPC): c.461C> A (p.Ser154Tyr) single nucleotide variant Uncertain significance rs756518358 GRCh37 Chromosome 15, 58834737: 58834737
34 LIPC NM_000236.2(LIPC): c.867C> T (p.Ser289=) single nucleotide variant Uncertain significance rs765258214 GRCh38 Chromosome 15, 58548388: 58548388
35 LIPC NM_000236.2(LIPC): c.867C> T (p.Ser289=) single nucleotide variant Uncertain significance rs765258214 GRCh37 Chromosome 15, 58840587: 58840587
36 LIPC NM_000236.2(LIPC): c.1052-4_1052-3dupCT duplication Uncertain significance rs886051318 GRCh38 Chromosome 15, 58560860: 58560861
37 LIPC NM_000236.2(LIPC): c.1052-4_1052-3dupCT duplication Uncertain significance rs886051318 GRCh37 Chromosome 15, 58853059: 58853060
38 LIPC NM_000236.2(LIPC): c.1064A> G (p.Gln355Arg) single nucleotide variant Likely benign rs140272400 GRCh38 Chromosome 15, 58560876: 58560876
39 LIPC NM_000236.2(LIPC): c.1064A> G (p.Gln355Arg) single nucleotide variant Likely benign rs140272400 GRCh37 Chromosome 15, 58853075: 58853075
40 LIPC NM_000236.2(LIPC): c.1098A> G (p.Thr366=) single nucleotide variant Benign rs3829461 GRCh38 Chromosome 15, 58560910: 58560910
41 LIPC NM_000236.2(LIPC): c.1098A> G (p.Thr366=) single nucleotide variant Benign rs3829461 GRCh37 Chromosome 15, 58853109: 58853109
42 LIPC NM_000236.2(LIPC): c.1203C> T (p.Ser401=) single nucleotide variant Uncertain significance rs768982423 GRCh38 Chromosome 15, 58563538: 58563538
43 LIPC NM_000236.2(LIPC): c.1203C> T (p.Ser401=) single nucleotide variant Uncertain significance rs768982423 GRCh37 Chromosome 15, 58855737: 58855737
44 LIPC NM_000236.2(LIPC): c.1231G> A (p.Gly411Ser) single nucleotide variant Uncertain significance rs559266901 GRCh38 Chromosome 15, 58563566: 58563566
45 LIPC NM_000236.2(LIPC): c.1231G> A (p.Gly411Ser) single nucleotide variant Uncertain significance rs559266901 GRCh37 Chromosome 15, 58855765: 58855765
46 LIPC NM_000236.2(LIPC): c.206C> T (p.Pro69Leu) single nucleotide variant Uncertain significance rs143550925 GRCh38 Chromosome 15, 58538450: 58538450
47 LIPC NM_000236.2(LIPC): c.206C> T (p.Pro69Leu) single nucleotide variant Uncertain significance rs143550925 GRCh37 Chromosome 15, 58830649: 58830649
48 LIPC NM_000236.2(LIPC): c.317C> T (p.Ala106Val) single nucleotide variant Uncertain significance rs182603751 GRCh38 Chromosome 15, 58541828: 58541828
49 LIPC NM_000236.2(LIPC): c.317C> T (p.Ala106Val) single nucleotide variant Uncertain significance rs182603751 GRCh37 Chromosome 15, 58834027: 58834027
50 LIPC NM_000236.2(LIPC): c.575-8C> A single nucleotide variant Likely benign rs6080 GRCh38 Chromosome 15, 58545734: 58545734

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
13.56 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 11.38 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 11)
# 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 9.65 APOA1 APOE LIPC
4 extracellular vesicle GO:1903561 9.49 APOA1 APOE
5 endocytic vesicle lumen GO:0071682 9.43 APOA1 APOE
6 low-density lipoprotein particle GO:0034362 9.4 APOA1 APOE
7 high-density lipoprotein particle GO:0034364 9.33 APOA1 APOE LIPC
8 intermediate-density lipoprotein particle GO:0034363 9.32 APOA1 APOE
9 discoidal high-density lipoprotein particle GO:0034365 9.26 APOA1 APOE
10 very-low-density lipoprotein particle GO:0034361 9.13 APOA1 APOE LPL
11 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 9.83 APOA1 APOE LIPC LPL PNLIP
2 lipid catabolic process GO:0016042 9.71 LIPC LPL PNLIP
3 lipid transport GO:0006869 9.66 APOA1 APOE
4 steroid metabolic process GO:0008202 9.65 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 9.64 LIPC LPL
8 retinoid metabolic process GO:0001523 9.64 APOA1 APOE
9 cholesterol biosynthetic process GO:0006695 9.63 APOA1 APOE
10 triglyceride metabolic process GO:0006641 9.63 APOE LPL
11 cholesterol metabolic process GO:0008203 9.63 APOA1 APOE LIPC
12 cholesterol transport GO:0030301 9.62 APOA1 LIPC
13 cholesterol efflux GO:0033344 9.62 APOA1 APOE
14 cholesterol homeostasis GO:0042632 9.62 APOA1 APOE LIPC LPL
15 lipoprotein metabolic process GO:0042157 9.61 APOA1 APOE
16 positive regulation of lipid biosynthetic process GO:0046889 9.61 APOA1 APOE
17 low-density lipoprotein particle remodeling GO:0034374 9.6 APOE LIPC
18 high-density lipoprotein particle assembly GO:0034380 9.59 APOA1 APOE
19 phospholipid efflux GO:0033700 9.58 APOA1 APOE
20 chylomicron assembly GO:0034378 9.58 APOA1 APOE
21 reverse cholesterol transport GO:0043691 9.58 APOA1 APOE LIPC
22 high-density lipoprotein particle clearance GO:0034384 9.57 APOA1 APOE
23 positive regulation of cholesterol esterification GO:0010873 9.56 APOA1 APOE
24 regulation of lipoprotein lipase activity GO:0051004 9.55 LIPC LPL
25 high-density lipoprotein particle remodeling GO:0034375 9.54 APOA1 APOE LIPC
26 chylomicron remnant clearance GO:0034382 9.52 APOE LIPC
27 regulation of Cdc42 protein signal transduction GO:0032489 9.51 APOA1 APOE
28 regulation of cholesterol transport GO:0032374 9.49 APOA1 APOE
29 lipoprotein biosynthetic process GO:0042158 9.48 APOA1 APOE
30 triglyceride homeostasis GO:0070328 9.46 APOA1 APOE LIPC LPL
31 chylomicron remodeling GO:0034371 9.43 APOA1 APOE 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 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
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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