HL DEFICIENCY
MCID: HPT025
MIFTS: 47

Hepatic Lipase Deficiency (HL DEFICIENCY)

Categories: Blood diseases, Cardiovascular 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 20 43 72 36 29 13 6 39 70
Hyperlipidemia Due to Hepatic Triglyceride Lipase Deficiency 20 43 58
Lipc Deficiency 57 20 43
Hl Deficiency 57 43 72
Hyperlipidemia Due to Hepatic Triacylglycerol Lipase Deficiency 20 58
Hyperlipidemia Due to Hepatic Lipase Deficiency 20 58
Hyperlipidemia Due to Htgl Deficiency 20 58
Hyperlipidemia Due to Hl Deficiency 20 58
Hmg Coa Lyase Deficiency 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
hepatic lipase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


External Ids:

OMIM® 57 614025
KEGG 36 H02329
MeSH 44 D008052
ICD10 via Orphanet 33 E78.4
Orphanet 58 ORPHA140905
MedGen 41 C3151466
UMLS 70 C0268601 C3151466

Summaries for Hepatic Lipase Deficiency

MedlinePlus Genetics : 43 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.Normally, high levels of HDL (known as "good cholesterol") and low levels of LDL (known as "bad cholesterol") are protective against an accumulation of fatty deposits on the artery walls (atherosclerosis) and heart disease. However, some individuals with hepatic lipase deficiency, who have this imbalance of HDL and LDL, develop atherosclerosis and heart disease in mid-adulthood, while others do not. It is unknown whether people with hepatic lipase deficiency have a greater risk of developing atherosclerosis or heart disease than individuals in the general population. Similarly, it is unclear how increased blood triglycerides and cholesterol levels affect the risk of atherosclerosis and heart disease in people with hepatic lipase deficiency.

MalaCards based summary : Hepatic Lipase Deficiency, also known as hyperlipidemia due to hepatic triglyceride lipase deficiency, is related to lipase deficiency, combined and hyperalphalipoproteinemia 1, 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 Cholesterol metabolism and Glycerolipid metabolism. Affiliated tissues include liver, heart and endothelial, and related phenotypes are hypertriglyceridemia and increased hdl cholesterol concentration

GARD : 20 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.

OMIM® : 57 Hepatic lipase deficiency is characterized by premature atherosclerosis, elevated total cholesterol, triglycerides (TG), and very low density lipoprotein (VLDL), as well as TG-rich low density lipoprotein (LDL) and HDL subfractions (summary by Hegele et al., 1991). (614025) (Updated 05-Apr-2021)

KEGG : 36 Hepatic lipase deficiency is a rare autosomal recessive disorder, characterized by elevated levels of triglycerides and cholesterol. Some patients have premature cardiovascular disease. Missense mutations in LIPC have been identified to be responsible for this disease.

UniProtKB/Swiss-Prot : 72 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 : 73 Hepatic lipase (HL), also called hepatic triglyceride lipase (HTGL) or LIPC (for "lipase, hepatic"), is... more...

Related Diseases for Hepatic Lipase Deficiency

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 lipase deficiency, combined 29.6 PNLIP LPL LIPC
2 hyperalphalipoproteinemia 1 29.5 LPL LIPC APOA1
3 hypertriglyceridemia, familial 29.2 LPL LIPC APOE APOA1
4 atherosclerosis susceptibility 29.2 LPL LIPC APOE APOA1
5 non-alcoholic fatty liver disease 29.0 LPL APOE APOA1
6 hypercholesterolemia, familial, 1 28.8 LPL LIPC APOE APOA1
7 lipid metabolism disorder 28.8 LPL LIPC APOE APOA1
8 lipoprotein quantitative trait locus 28.8 LPL LIPC APOE APOA1
9 myocardial infarction 28.7 LPL LIPC APOE APOA1
10 familial hyperlipidemia 28.7 PNLIP LPL LIPC APOE APOA1
11 familial lipoprotein lipase deficiency 28.4 PNLIP LPL LIPC APOE APOA1
12 hyperlipoproteinemia, type i 28.4 PNLIP LPL LIPC APOE APOA1
13 body mass index quantitative trait locus 11 28.4 PNLIP LPL LIPC APOE APOA1
14 3-hydroxy-3-methylglutaryl-coa lyase deficiency 11.3
15 huntington disease-like 3 10.2
16 huntington disease-like 2 10.2
17 hypoglycemia 10.0
18 hypoalphalipoproteinemia 10.0 LIPC APOA1
19 fatty liver disease, nonalcoholic 1 9.9
20 glucose intolerance 9.9
21 heart disease 9.9
22 fatty liver disease 9.9
23 47,xyy 9.9
24 chylomicron retention disease 9.9 PNLIP APOA1
25 ocular motor apraxia 9.8
26 metabolic acidosis 9.8
27 organic acidemia 9.8
28 hypotonia 9.8
29 platelet glycoprotein iv deficiency 9.8 LPL APOE
30 familial lcat deficiency 9.8 APOE APOA1
31 aortic atherosclerosis 9.8 LPL APOE
32 xanthomatosis 9.8 LPL APOE
33 degeneration of macula and posterior pole 9.7 LIPC APOE
34 cerebral atherosclerosis 9.7 APOE APOA1
35 huntington disease-like 1 9.7 APOE APOA1
36 abdominal obesity-metabolic syndrome 1 9.7 LPL APOA1
37 hypobetalipoproteinemia, familial, 1 9.7 APOE APOA1
38 carotid artery disease 9.7 APOE APOA1
39 peripheral artery disease 9.6 APOE APOA1
40 acute pancreatitis 9.6 PNLIP LPL
41 amyloidosis, familial visceral 9.6 APOE APOA1
42 homozygous familial hypercholesterolemia 9.5 LIPC APOE APOA1
43 hyperlipoproteinemia, type iv 9.5 LPL APOE APOA1
44 gallbladder disease 9.5 APOE APOA1
45 hyperlipoproteinemia, type v 9.5 LPL APOE APOA1
46 lecithin:cholesterol acyltransferase deficiency 9.5 LPL APOE APOA1
47 hypolipoproteinemia 9.5 LPL APOE APOA1
48 abetalipoproteinemia 9.5 LPL APOE APOA1
49 coronary stenosis 9.5 LPL APOE APOA1
50 tangier disease 9.5 LPL APOE APOA1

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



Diseases related to Hepatic Lipase Deficiency

Symptoms & Phenotypes for Hepatic Lipase Deficiency

Human phenotypes related to Hepatic Lipase Deficiency:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia 58 31 obligate (100%) Obligate (100%) HP:0002155
2 increased hdl cholesterol concentration 58 31 obligate (100%) Obligate (100%) HP:0012184
3 eruptive xanthomas 58 31 hallmark (90%) Very frequent (99-80%) HP:0001013
4 angina pectoris 58 31 frequent (33%) Frequent (79-30%) HP:0001681
5 premature coronary artery atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0005181

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 8.65 LIPC
2 Decreased LDL uptake GR00340-A-1 8.32 LPL

MGI Mouse Phenotypes related to Hepatic Lipase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 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:

40
Liver, Heart, Endothelial

Publications for Hepatic Lipase Deficiency

Articles related to Hepatic Lipase Deficiency:

(show all 43)
# Title Authors PMID Year
1
Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians. 61 6 57
12777476 2003
2
Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency. 61 57 6
1883393 1991
3
A hepatic lipase gene mutation associated with heritable lipolytic deficiency. 6 57
1671786 1991
4
Familial hepatic lipase deficiency. 57 61
3799360 1986
5
Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21. 57
3692485 1987
6
Deficiency of hepatic lipase activity in post-heparin plasma in familial hyper-alpha-triglyceridemia. 57
3739751 1986
7
Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase. 57
6961921 1982
8
2019 George Lyman Duff Memorial Lecture: Three Decades of Examining DNA in Patients With Dyslipidemia. 61
32762461 2020
9
High-density lipoprotein subpopulation profiles in lipoprotein lipase and hepatic lipase deficiency. 61
27573733 2016
10
Hepatic lipase deficiency produces glucose intolerance, inflammation and hepatic steatosis. 61
26423094 2015
11
Hepatic lipase deficiency in a Middle-Eastern-Arabic male. 61
22798447 2010
12
Causes of dysregulation of lipid metabolism in chronic renal failure. 61
20017835 2009
13
[Familial hepatic lipase deficiency]. 61
17824054 2007
14
Hepatic lipase deficiency delays atherosclerosis, myocardial infarction, and cardiac dysfunction and extends lifespan in SR-BI/apolipoprotein E double knockout mice. 61
16397139 2006
15
Dyslipidemia of chronic renal failure: the nature, mechanisms, and potential consequences. 61
16403839 2006
16
Effect of fenofibrate on plasma lipoprotein composition and kinetics in patients with complete hepatic lipase deficiency. 61
16224048 2005
17
Plasma metabolism of apoB-containing lipoproteins in patients with hepatic lipase deficiency. 61
15910863 2005
18
Evidence that hepatic lipase deficiency in humans is not associated with proatherogenic changes in HDL composition and metabolism. 61
15175359 2004
19
Lipoprotein metabolism in subjects with hepatic lipase deficiency. 61
15045702 2004
20
Transient remnant removal disease in acute fatty liver of pregnancy. 61
15369648 2004
21
Hepatic lipase deficiency attenuates mouse ovarian progesterone production leading to decreased ovulation and reduced litter size. 61
11906928 2002
22
Environmental modulation of atherosclerosis end points in familial hypercholesterolemia. 61
11923122 2002
23
[Familial hepatic lipase deficiency]. 61
11347190 2001
24
Hepatic lipase deficiency decreases the selective uptake of HDL-cholesteryl esters in vivo. 61
10787427 2000
25
[Remnant hyperlipidemia and gene polymorphism]. 61
10638214 1999
26
Gene therapy for atherosclerosis and atherosclerosis-related diseases. 61
11122701 1999
27
Atorvastatin in the management of an index patient with complete hepatic lipase deficiency. 61
10208500 1999
28
Hepatic lipase deficiency. 61
9885775 1998
29
[Hepatic triglyceride lipase deficiency, hepatic lipase deficiency]. 61
9645016 1998
30
Effects of short-term stanozolol administration on serum lipoproteins in hepatic lipase deficiency. 61
9284885 1997
31
Hepatic lipase deficiency increases plasma cholesterol but reduces susceptibility to atherosclerosis in apolipoprotein E-deficient mice. 61
9153204 1997
32
Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene. 61
9050773 1997
33
Triglycerides: a risk factor for coronary heart disease. 61
8831917 1996
34
Kinetics of lipolysis of very low density lipoproteins by lipoprotein lipase. Importance of particle number and noncompetitive inhibition by particles with low triglyceride content. 61
8051155 1994
35
Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations. 61
8123642 1994
36
Beta-VLDL in hepatic lipase deficiency induces apoE-mediated cholesterol ester accumulation in macrophages. 61
8364012 1993
37
Hepatic lipase deficiency. Clinical, biochemical, and molecular genetic characteristics. 61
8485124 1993
38
The molecular basis of hepatic lipase deficiency. 61
1933710 1991
39
Plasma lipoproteins in familial hepatic lipase deficiency. 61
2297346 1990
40
Large buoyant LDL-like particles in hepatic lipase deficiency. 61
2719594 1989
41
The rabbit as an animal model of hepatic lipase deficiency. 61
2930766 1989
42
Lipoprotein metabolism in hepatic lipase deficiency: studies on the turnover of apolipoprotein B and on the effect of hepatic lipase on high density lipoprotein. 61
3244012 1988
43
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. 61
3170542 1988

Variations for Hepatic Lipase Deficiency

ClinVar genetic disease variations for Hepatic Lipase Deficiency:

6 (show top 50) (show all 60)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LIPC NM_000236.3(LIPC):c.583G>A (p.Ala195Thr) SNV Pathogenic 29776 rs1566946168 GRCh37: 15:58837949-58837949
GRCh38: 15:58545750-58545750
2 LIPC NM_000236.3(LIPC):c.1014del (p.Arg338fs) Deletion Pathogenic 1034118 GRCh37: 15:58840733-58840733
GRCh38: 15:58548534-58548534
3 LIPC NM_000236.3(LIPC):c.456+2T>C SNV Pathogenic 1034119 GRCh37: 15:58834168-58834168
GRCh38: 15:58541969-58541969
4 LIPC NM_000236.3(LIPC):c.845C>A (p.Ser282Ter) SNV Pathogenic 1034120 GRCh37: 15:58840565-58840565
GRCh38: 15:58548366-58548366
5 LIPC NM_000236.3(LIPC):c.738_739dup (p.Gly247fs) Duplication Conflicting interpretations of pathogenicity 631739 rs749932377 GRCh37: 15:58838103-58838104
GRCh38: 15:58545904-58545905
6 LIPC NM_000236.3(LIPC):c.1226A>C (p.Asp409Ala) SNV Uncertain significance 735412 rs142036980 GRCh37: 15:58855760-58855760
GRCh38: 15:58563561-58563561
7 LIPC NM_000236.3(LIPC):c.866C>T (p.Ser289Phe) SNV Uncertain significance 14452 rs121912502 GRCh37: 15:58840586-58840586
GRCh38: 15:58548387-58548387
8 LIPC NM_000236.3(LIPC):c.787A>G (p.Ile263Val) SNV Uncertain significance 931919 GRCh37: 15:58838153-58838153
GRCh38: 15:58545954-58545954
9 LIPC NM_000236.3(LIPC):c.1214C>T (p.Thr405Met) SNV Uncertain significance 14451 rs113298164 GRCh37: 15:58855748-58855748
GRCh38: 15:58563549-58563549
10 LIPC NM_000236.3(LIPC):c.986G>A (p.Arg329His) SNV Uncertain significance 886011 GRCh37: 15:58840706-58840706
GRCh38: 15:58548507-58548507
11 LIPC NM_000236.3(LIPC):c.67C>T (p.Leu23Phe) SNV Uncertain significance 886947 GRCh37: 15:58724298-58724298
GRCh38: 15:58432099-58432099
12 LIPC NM_000236.3(LIPC):c.88+5G>C SNV Uncertain significance 886948 GRCh37: 15:58724324-58724324
GRCh38: 15:58432125-58432125
13 LIPC NM_000236.3(LIPC):c.132G>A (p.Thr44=) SNV Uncertain significance 886949 GRCh37: 15:58830575-58830575
GRCh38: 15:58538376-58538376
14 LIPC NM_000236.3(LIPC):c.207G>A (p.Pro69=) SNV Uncertain significance 886950 GRCh37: 15:58830650-58830650
GRCh38: 15:58538451-58538451
15 LIPC NM_000236.3(LIPC):c.314C>T (p.Ala105Val) SNV Uncertain significance 888210 GRCh37: 15:58834024-58834024
GRCh38: 15:58541825-58541825
16 LIPC NM_000236.3(LIPC):c.403C>T (p.Arg135Cys) SNV Uncertain significance 888211 GRCh37: 15:58834113-58834113
GRCh38: 15:58541914-58541914
17 LIPC NM_000236.3(LIPC):c.456+5C>T SNV Uncertain significance 888212 GRCh37: 15:58834171-58834171
GRCh38: 15:58541972-58541972
18 LIPC NM_000236.3(LIPC):c.1170G>A (p.Leu390=) SNV Uncertain significance 888277 GRCh37: 15:58855704-58855704
GRCh38: 15:58563505-58563505
19 LIPC NM_000236.3(LIPC):c.1215G>T (p.Thr405=) SNV Uncertain significance 888278 GRCh37: 15:58855749-58855749
GRCh38: 15:58563550-58563550
20 LIPC NM_000236.3(LIPC):c.1232G>T (p.Gly411Val) SNV Uncertain significance 888279 GRCh37: 15:58855766-58855766
GRCh38: 15:58563567-58563567
21 LIPC NM_000236.3(LIPC):c.867C>T (p.Ser289=) SNV Uncertain significance 316668 rs765258214 GRCh37: 15:58840587-58840587
GRCh38: 15:58548388-58548388
22 LIPC NM_000236.3(LIPC):c.1052-13TC[6] Microsatellite Uncertain significance 316670 rs776858148 GRCh37: 15:58853049-58853050
GRCh38: 15:58560850-58560851
23 LIPC NM_000236.3(LIPC):c.1231G>A (p.Gly411Ser) SNV Uncertain significance 316677 rs559266901 GRCh37: 15:58855765-58855765
GRCh38: 15:58563566-58563566
24 LIPC NM_000236.3(LIPC):c.316G>A (p.Ala106Thr) SNV Uncertain significance 316657 rs141018530 GRCh37: 15:58834026-58834026
GRCh38: 15:58541827-58541827
25 LIPC NM_000236.3(LIPC):c.206C>T (p.Pro69Leu) SNV Uncertain significance 316654 rs143550925 GRCh37: 15:58830649-58830649
GRCh38: 15:58538450-58538450
26 LIPC NM_000236.3(LIPC):c.1430G>A (p.Arg477His) SNV Uncertain significance 316680 rs148828229 GRCh37: 15:58860956-58860956
GRCh38: 15:58568757-58568757
27 LIPC NM_000236.3(LIPC):c.588G>A (p.Ala196=) SNV Uncertain significance 316663 rs34351746 GRCh37: 15:58837954-58837954
GRCh38: 15:58545755-58545755
28 LIPC NM_000236.3(LIPC):c.317C>T (p.Ala106Val) SNV Uncertain significance 316658 rs182603751 GRCh37: 15:58834027-58834027
GRCh38: 15:58541828-58541828
29 LIPC NM_000236.3(LIPC):c.1169+11G>A SNV Uncertain significance 316675 rs762534927 GRCh37: 15:58853191-58853191
GRCh38: 15:58560992-58560992
30 LIPC NM_000236.3(LIPC):c.998G>A (p.Arg333Gln) SNV Uncertain significance 316669 rs200889722 GRCh37: 15:58840718-58840718
GRCh38: 15:58548519-58548519
31 LIPC NM_000236.3(LIPC):c.739G>A (p.Gly247Arg) SNV Uncertain significance 316667 rs371573112 GRCh37: 15:58838105-58838105
GRCh38: 15:58545906-58545906
32 LIPC NM_000236.3(LIPC):c.1341C>T (p.Gly447=) SNV Uncertain significance 316679 rs200353965 GRCh37: 15:58855875-58855875
GRCh38: 15:58563676-58563676
33 LIPC NM_000236.3(LIPC):c.461C>A (p.Ser154Tyr) SNV Uncertain significance 316659 rs756518358 GRCh37: 15:58834737-58834737
GRCh38: 15:58542538-58542538
34 LIPC NM_000236.3(LIPC):c.575-5A>G SNV Uncertain significance 316662 rs777246707 GRCh37: 15:58837936-58837936
GRCh38: 15:58545737-58545737
35 LIPC NM_000236.3(LIPC):c.1203C>T (p.Ser401=) SNV Uncertain significance 316676 rs768982423 GRCh37: 15:58855737-58855737
GRCh38: 15:58563538-58563538
36 LIPC NM_000236.3(LIPC):c.1388+13T>G SNV Uncertain significance 885174 GRCh37: 15:58855935-58855935
GRCh38: 15:58563736-58563736
37 LIPC NM_000236.3(LIPC):c.1415A>T (p.Asp472Val) SNV Uncertain significance 885175 GRCh37: 15:58860941-58860941
GRCh38: 15:58568742-58568742
38 LIPC NM_000236.3(LIPC):c.1421T>C (p.Leu474Pro) SNV Uncertain significance 885176 GRCh37: 15:58860947-58860947
GRCh38: 15:58568748-58568748
39 LIPC NM_000236.3(LIPC):c.829T>C (p.Cys277Arg) SNV Uncertain significance 886007 GRCh37: 15:58840549-58840549
GRCh38: 15:58548350-58548350
40 LIPC NM_000236.3(LIPC):c.1273G>C (p.Val425Leu) SNV Uncertain significance 885172 GRCh37: 15:58855807-58855807
GRCh38: 15:58563608-58563608
41 LIPC NM_000236.3(LIPC):c.947G>T (p.Cys316Phe) SNV Uncertain significance 886009 GRCh37: 15:58840667-58840667
GRCh38: 15:58548468-58548468
42 LIPC NM_000236.3(LIPC):c.981C>T (p.His327=) SNV Likely benign 886010 GRCh37: 15:58840701-58840701
GRCh38: 15:58548502-58548502
43 LIPC NM_000236.3(LIPC):c.1314A>G (p.Pro438=) SNV Likely benign 885173 GRCh37: 15:58855848-58855848
GRCh38: 15:58563649-58563649
44 LIPC NM_000236.3(LIPC):c.575-15C>T SNV Likely benign 885098 GRCh37: 15:58837926-58837926
GRCh38: 15:58545727-58545727
45 LIPC NM_000236.3(LIPC):c.1233C>T (p.Gly411=) SNV Likely benign 316678 rs79985029 GRCh37: 15:58855767-58855767
GRCh38: 15:58563568-58563568
46 LIPC NM_000236.3(LIPC):c.1052-10C>G SNV Likely benign 316671 rs58453124 GRCh37: 15:58853053-58853053
GRCh38: 15:58560854-58560854
47 LIPC NM_000236.3(LIPC):c.213G>A (p.Thr71=) SNV Likely benign 782593 rs113174258 GRCh37: 15:58830656-58830656
GRCh38: 15:58538457-58538457
48 LIPC NM_000236.3(LIPC):c.1029G>A (p.Thr343=) SNV Likely benign 887013 GRCh37: 15:58840749-58840749
GRCh38: 15:58548550-58548550
49 LIPC NM_000236.3(LIPC):c.1098A>G (p.Thr366=) SNV Benign 316674 rs3829461 GRCh37: 15:58853109-58853109
GRCh38: 15:58560910-58560910
50 LIPC NM_000236.3(LIPC):c.644A>G (p.Asn215Ser) SNV Benign 316665 rs6083 GRCh37: 15:58838010-58838010
GRCh38: 15:58545811-58545811

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

72
# Symbol AA change Variation ID SNP ID
1 LIPC p.Ser289Phe VAR_004209 rs121912502
2 LIPC p.Thr405Met VAR_004210 rs113298164

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 KEGG:

36
# Name Kegg Source Accession
1 Cholesterol metabolism hsa04979
2 Glycerolipid metabolism hsa00561

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
13.57 PNLIP LPL LIPC APOE APOA1
2
Show member pathways
12.23 PNLIP LPL APOE APOA1
3
Show member pathways
11.79 PNLIP LPL APOE APOA1
4 11.65 APOE APOA1
5
Show member pathways
11.56 PNLIP LPL LIPC APOE APOA1
6
Show member pathways
11.55 APOE APOA1
7 11.39 LPL APOA1
8
Show member pathways
11.34 LPL LIPC
9
Show member pathways
11.33 LPL LIPC APOE APOA1
10
Show member pathways
11.22 PNLIP LIPC
11 11.22 PNLIP LPL LIPC
12
Show member pathways
11.18 LPL LIPC
13
Show member pathways
11.1 PNLIP APOA1
14 10.78 PNLIP APOA1
15 10.41 PNLIP LIPC

GO Terms for Hepatic Lipase Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.85 PNLIP LPL LIPC APOE APOA1
2 extracellular space GO:0005615 9.77 PNLIP LPL LIPC APOE APOA1
3 endoplasmic reticulum lumen GO:0005788 9.65 LIPC APOE APOA1
4 endocytic vesicle lumen GO:0071682 9.43 APOE APOA1
5 low-density lipoprotein particle GO:0034362 9.4 APOE APOA1
6 high-density lipoprotein particle GO:0034364 9.33 LIPC APOE APOA1
7 intermediate-density lipoprotein particle GO:0034363 9.32 APOE APOA1
8 discoidal high-density lipoprotein particle GO:0034365 9.26 APOE APOA1
9 very-low-density lipoprotein particle GO:0034361 9.13 LPL APOE APOA1
10 chylomicron GO:0042627 8.8 LPL APOE APOA1

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 PNLIP LPL LIPC APOE APOA1
2 lipid catabolic process GO:0016042 9.71 PNLIP LPL LIPC
3 cholesterol metabolic process GO:0008203 9.67 LIPC APOE APOA1
4 negative regulation of inflammatory response GO:0050728 9.66 APOE APOA1
5 steroid metabolic process GO:0008202 9.65 APOE APOA1
6 fatty acid biosynthetic process GO:0006633 9.65 LPL LIPC
7 phospholipid metabolic process GO:0006644 9.65 LPL APOA1
8 intermembrane lipid transfer GO:0120009 9.64 APOE APOA1
9 triglyceride metabolic process GO:0006641 9.64 LPL APOE
10 triglyceride catabolic process GO:0019433 9.63 LPL LIPC
11 cholesterol efflux GO:0033344 9.63 APOE APOA1
12 lipoprotein metabolic process GO:0042157 9.62 APOE APOA1
13 cholesterol transport GO:0030301 9.62 LIPC APOA1
14 cholesterol homeostasis GO:0042632 9.62 LPL LIPC APOE APOA1
15 positive regulation of cholesterol efflux GO:0010875 9.61 APOE APOA1
16 positive regulation of lipid biosynthetic process GO:0046889 9.61 APOE APOA1
17 low-density lipoprotein particle remodeling GO:0034374 9.6 LIPC APOE
18 high-density lipoprotein particle assembly GO:0034380 9.59 APOE APOA1
19 phospholipid efflux GO:0033700 9.58 APOE APOA1
20 chylomicron assembly GO:0034378 9.58 APOE APOA1
21 reverse cholesterol transport GO:0043691 9.58 LIPC APOE APOA1
22 high-density lipoprotein particle clearance GO:0034384 9.57 APOE APOA1
23 regulation of lipoprotein lipase activity GO:0051004 9.56 LPL LIPC
24 positive regulation of cholesterol esterification GO:0010873 9.55 APOE APOA1
25 high-density lipoprotein particle remodeling GO:0034375 9.54 LIPC APOE APOA1
26 chylomicron remnant clearance GO:0034382 9.52 LIPC APOE
27 regulation of Cdc42 protein signal transduction GO:0032489 9.51 APOE APOA1
28 lipoprotein biosynthetic process GO:0042158 9.48 APOE APOA1
29 positive regulation of phospholipid efflux GO:1902995 9.46 APOE APOA1
30 retinoid metabolic process GO:0001523 9.46 PNLIP LPL APOE APOA1
31 chylomicron remodeling GO:0034371 9.43 LPL APOE APOA1
32 triglyceride homeostasis GO:0070328 9.26 LPL LIPC APOE APOA1
33 very-low-density lipoprotein particle remodeling GO:0034372 8.92 LPL LIPC APOE APOA1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.73 LPL APOE APOA1
2 heparin binding GO:0008201 9.65 LPL LIPC APOE
3 phospholipid binding GO:0005543 9.58 APOE APOA1
4 amyloid-beta binding GO:0001540 9.57 APOE APOA1
5 lipid transporter activity GO:0005319 9.55 APOE APOA1
6 phospholipase activity GO:0004620 9.54 LPL LIPC
7 intermembrane cholesterol transfer activity GO:0120020 9.52 APOE APOA1
8 heparan sulfate proteoglycan binding GO:0043395 9.51 LPL APOE
9 apolipoprotein binding GO:0034185 9.49 LPL LIPC
10 phospholipase A1 activity GO:0008970 9.46 LPL LIPC
11 phosphatidylserine 1-acylhydrolase activity GO:0052739 9.43 LPL LIPC
12 carboxylic ester hydrolase activity GO:0052689 9.43 PNLIP LPL LIPC
13 1-acyl-2-lysophosphatidylserine acylhydrolase activity GO:0052740 9.4 LPL LIPC
14 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.37 APOE APOA1
15 triglyceride lipase activity GO:0004806 9.33 PNLIP LPL LIPC
16 lipoprotein lipase activity GO:0004465 9.32 LPL LIPC
17 lipase activity GO:0016298 9.13 PNLIP LPL LIPC
18 lipoprotein particle binding GO:0071813 8.8 LPL APOE APOA1

Sources for Hepatic Lipase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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