Hepatic Lipase Deficiency disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

NIH Rare Diseases:⁴⁵ 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 myocardial infarction and hmg-coa lyase deficiency, and has symptoms including eruptive xanthomasand angina pectoris. An important gene associated with Hepatic Lipase Deficiency is LIPC (Lipase C, Hepatic Type), and among its related pathways are triacylglycerol biosynthesis and Mitochondrial LC-Fatty Acid Beta-Oxidation. Affiliated tissues include liver, heart and adrenal gland.

Genetics Home Reference:²³ 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:⁶⁷ 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:⁶⁸ Hepatic lipase, also called hepatic triglyceride lipase (HTGL) or LIPC (for \"lipase, hepatic\"), is a... more...

Description from OMIM:⁴⁹ 614025

Related Diseases for Hepatic Lipase Deficiency

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
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Diseases related to Hepatic Lipase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)

id	Related Disease	Score	Top Affiliating Genes
1	myocardial infarction	28.0	APOA1, LIPC, LPL
2	hmg-coa lyase deficiency	11.1
3	hepatitis	10.5
4	osteoarthritis	10.2
5	spondylometaphyseal dysplasia, megarbane-dagher-melike type	10.0	LIPC, LPL
6	bacteriuria	10.0	LIPC, LPL
7	neuronal ceroid lipofuscinosis	9.9	LIPC, LPL
8	atherosclerosis	9.9
9	arteriovenous fistula	9.9	LIPC, LPL
10	hypoalphalipoproteinemia	9.8
11	glucose intolerance	9.8
12	ischemic optic neuropathy	9.7	APOA1, LPL
13	sick sinus syndrome	9.6	APOA1, LPL
14	scurvy	9.6	APOA1, LPL
15	wolfram syndrome 2	9.6	APOA1, LPL
16	immunodeficiency 32a, mycobacteriosis, autosomal dominant	9.5	APOA1, LPL
17	thyroid cancer	9.4	APOA1, LPL
18	hyperphenilalaninemia due to pterin-4-alpha-carbin	9.3	APOA1, LIPC, LPL
19	apolipoprotein c-iii deficiency	9.3	APOA1, LIPC, LPL
20	hyperlipidemia, familial combined	9.3	APOA1, LIPC, LPL
21	lissencephaly 6, with microcephaly	9.3	APOA1, LIPC, LPL
22	melanoacanthoma	9.3	APOA1, LIPC, LPL
23	autistic disorder	9.3	APOA1, LIPC
24	dermal unilateral segmental cavernous angioma	9.3	APOA1, LIPC, LPL
25	immunodeficiency 19	9.2	APOA1, LIPC, LPL
26	codas syndrome	9.2	APOA1, LIPC, LPL
27	coronary artery disease	9.2	APOA1, LIPC, LPL
28	hepatic adenoma, somatic	8.9	APOA1, LIPC, LPL
29	amelogenesis imperfecta, type iia3	8.8	APOA1, LIPC, LIPH, LPL
30	diabetes mellitus, noninsulin-dependent	8.7	APOA1, LIPC, LIPH, LPL

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

Symptoms for Hepatic Lipase Deficiency

Sources:
⁴⁹OMIM, ⁶¹The Human Phenotype Ontology
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Symptoms by clinical synopsis from OMIM:

614025

Clinical features from OMIM:

614025

HPO human phenotypes related to Hepatic Lipase Deficiency:

id	Description	Frequency	HPO Source Accession
1	eruptive xanthomas		HP:0001013
2	angina pectoris		HP:0001681

Drugs & Therapeutics for Hepatic Lipase Deficiency

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials, ¹³DrugBank, ²⁶HMDB, ⁹DGIdb, ⁵³PharmGKB, ³⁰IUPHAR, ⁴⁷Novoseek, ¹BitterDB
See all MalaCards sources

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

id		Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1		Liver Extracts			3572

Interventional clinical trials:

id	Name	Status	NCT ID	Phase
1	A Multicenter Study of SBC-102 (Sebelipase Alfa) in Patients With Lysosomal Acid Lipase Deficiency/ ARISE (Acid Lipase Replacement Investigating Safety and Efficacy)	Active, not recruiting	NCT01757184	Phase 3
2	National Lysosomal Acid Lipase Deficiency Study	Recruiting	NCT02372513
3	Novel Association of Cholesterol Ester Storage Disease Due to Lysosomal Acid Lipase Deficiency and Non-Alcoholic Fatty Liver Disease: A Prospective Clinical Study	Not yet recruiting	NCT01791452

Search NIH Clinical Center for Hepatic Lipase Deficiency

Genetic Tests for Hepatic Lipase Deficiency

Sources:
²²GeneTests
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Genetic tests related to Hepatic Lipase Deficiency:

id	Genetic test	Affiliating Genes
1	Hepatic Lipase Deficiency²²	LIPC

Anatomical Context for Hepatic Lipase Deficiency

Sources:
³³MalaCards
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MalaCards organs/tissues related to Hepatic Lipase Deficiency:

³³

Liver, Heart, Adrenal gland, Prostate, Thyroid, Endothelial, Breast

Animal Models for Hepatic Lipase Deficiency or affiliated genes

MGI Mouse Phenotypes related to Hepatic Lipase Deficiency:

³⁸

id	Description	MGI Source Accession	Score	Top Affiliating Genes

Publications for Hepatic Lipase Deficiency

Sources:
⁵⁴PubMed
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Articles related to Hepatic Lipase Deficiency:

(show all 32)

id	Title	Authors	Year
1	Hepatic lipase deficiency produces glucose intolerance, inflammation and hepatic steatosis. (26423094)	AndrAcs-Blasco I.... GonzA!lez-Navarro H.	2015
2	Hepatic lipase deficiency in a Middle-Eastern-Arabic male. (22798447)	Al Riyami N.... Frohlich J.	2010
3	Hepatic lipase deficiency delays atherosclerosis, myocardial infarction, and cardiac dysfunction and extends lifespan in SR-BI/apolipoprotein E double knockout mice. (16397139)	Karackattu S.L.... Krieger M.	2006
4	Effect of fenofibrate on plasma lipoprotein composition and kinetics in patients with complete hepatic lipase deficiency. (16224048)	Ruel I.L.... Couture P.	2005
5	Plasma metabolism of apoB-containing lipoproteins in patients with hepatic lipase deficiency. (15910863)	Ruel I.L.... Lamarche B.	2005
6	Evidence that hepatic lipase deficiency in humans is not associated with proatherogenic changes in HDL composition and metabolism. (15175359)	Ruel I.L.... Lamarche B.	2004
7	Severe hypoalphalipoproteinemia in mice expressing human hepatic lipase deficient in binding to heparan sulfate proteoglycan. (15292235)	Brown R.J.... Yao Z.	2004
8	Lipoprotein metabolism in subjects with hepatic lipase deficiency. (15045702)	Tilly-Kiesi M.... Lichtenstein A.H.	2004
9	Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians. (12777476)	Ruel I.L.... Lamarche B.	2003
10	Hepatic lipase deficiency attenuates mouse ovarian progesterone production leading to decreased ovulation and reduced litter size. (11906928)	Wade R.L.... Dyer C.A.	2002
11	Hepatic lipase deficiency decreases the selective uptake of HDL-cholesteryl esters in vivo. (10787427)	Lambert G.... Santamarina-Fojo S.	2000
12	Atorvastatin in the management of an index patient with complete hepatic lipase deficiency. (10208500)	Hegele R.A.... Connelly P.W.	1999
13	Hepatic lipase deficiency. (9885775)	Connelly P.W.... Hegele R.A.	1998
14	Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene. (9050773)	Knudsen P.... Ehnholm C.	1997
15	Effects of short-term stanozolol administration on serum lipoproteins in hepatic lipase deficiency. (9284885)	Bausserman L.L.... Herbert P.N.	1997
16	Hepatic lipase deficiency increases plasma cholesterol but reduces susceptibility to atherosclerosis in apolipoprotein E-deficient mice. (9153204)	Mezdour H.... Maeda N.	1997
17	Acute dyslipoproteinemia induced by interleukin-2: lecithin:cholesteryl acyltransferase, lipoprotein lipase, and hepatic lipase deficiencies. (9141552)	Kwong L.K.... Wilson D.E.	1997
18	Hepatic lipase gene therapy in hepatic lipase-deficient mice. Adenovirus-mediated replacement of a lipolytic enzyme to the vascular endothelium. (8609237)	Applebaum-Bowden D.... Santamarina-Fojo S.	1996
19	Analysis of protein structure-function in vivo. Adenovirus-mediated transfer of lipase lid mutants in hepatic lipase-deficient mice. (8824281)	Kobayashi J.... Santamarina-Fojo S.	1996
20	Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations. (8123642)	Durstenfeld A.... Doolittle M.H.	1994
21	Beta-VLDL in hepatic lipase deficiency induces apoE-mediated cholesterol ester accumulation in macrophages. (8364012)	Huff M.W.... Hegele R.A.	1993
22	Hepatic lipase deficiency. Clinical, biochemical, and molecular genetic characteristics. (8485124)	Hegele R.A.... Connelly P.W.	1993
23	The molecular basis of hepatic lipase deficiency. (1933710)	Hegele R.A.	1991
24	Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency. (1883393)	Hegele R.A.... Connelly P.W.	1991
25	Plasma lipoproteins in familial hepatic lipase deficiency. (2297346)	Connelly P.W.... Little J.A.	1990
26	The rabbit as an animal model of hepatic lipase deficiency. (2930766)	Clay M.A.... Barter P.J.	1989
27	Large buoyant LDL-like particles in hepatic lipase deficiency. (2719594)	Auwerx J.H.... Brunzell J.D.	1989
28	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)	Connelly P.W.... Little J.A.	1988
29	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)	Demant T.... Shepherd J.	1988
30	Familial hepatic lipase deficiency. (3799360)	Little J.A.... Connelly P.W.	1986
31	(18691395)
32	(25644166)

Genes related to Hepatic Lipase Deficiency

Sources:
²⁰GeneCards, ⁴⁹OMIM, ⁵Clinvar, ⁵¹Orphanet, ⁶⁷UniProtKB/Swiss-Prot, ²²GeneTests
See all MalaCards sources

Genes related to Hepatic Lipase Deficiency (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication
1	LIPC	Lipase C, Hepatic Type	1715.39	Molecular basis known ⁴⁹ Pathogenic ⁵ Causative germline mutation ⁵¹ Causative variation ⁶⁷ Genetic Tests ²² GeneCards inferred via : Disorders, Publications, Variants (show sections)
2	LIPH	Lipase H	500.00	Molecular basis known ⁴⁹
3	LPL	Lipoprotein Lipase	18.22	GeneCards inferred via : Publications (show sections)
4	APOA1	Apolipoprotein A1	17.87	GeneCards inferred via : Publications (show sections)

Variations for Hepatic Lipase Deficiency

Sources:
⁶⁷UniProtKB/Swiss-Prot, ⁵Clinvar, ⁸dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hepatic Lipase Deficiency:

⁶⁷

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

Clinvar genetic disease variations for Hepatic Lipase Deficiency:

⁵

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	LIPC	NM_000236.2(LIPC): c.1214C> T (p.Thr405Met)	single nucleotide variant	Pathogenic	rs113298164	GRCh37	Chr 15, 58855748: 58855748
2	LIPC	NM_000236.2(LIPC): c.866C> T (p.Ser289Phe)	single nucleotide variant	Pathogenic	rs121912502	GRCh37	Chr 15, 58840586: 58840586
3	LIPC	LIPC, ALA174THR	single nucleotide variant	Pathogenic

Expression for genes affiliated with Hepatic Lipase Deficiency

Sources:
¹⁷Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Hepatic Lipase Deficiency.

Pathways for genes affiliated with Hepatic Lipase Deficiency

Sources:
⁵²PathCards, ³⁹NCBI BioSystems Database, ³¹KEGG, ⁵⁷Reactome, ⁵³PharmGKB
See all MalaCards sources

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

id	Super pathways	Score	Top Affiliating Genes
1	triacylglycerol biosynthesis³⁹ Show member pathways CDP-diacylglycerol biosynthesis³⁹ Glycerolipid metabolism³¹ Triacylglyceride Synthesis³⁹ Plasmalogen biosynthesis⁵⁷	9.1	LIPC, LPL
2	Mitochondrial LC-Fatty Acid Beta-Oxidation³⁹ Show member pathways Fatty Acid Beta Oxidation³⁹ fatty acid beta-oxidation (unsaturated, odd number)³⁹	9.1	LIPC, LPL
3	Metabolism of fat-soluble vitamins⁵⁷ Show member pathways Visual phototransduction⁵⁷ The retinoid cycle in cones (daylight vision)⁵⁷ Retinoid metabolism and transport⁵⁷ Vitamin D (calciferol) metabolism⁵⁷ Metabolism of vitamin K⁵⁷	9.1	APOA1, LPL
4	PPAR signaling pathway³¹ Show member pathways fatty acid beta-oxidation (peroxisome)³⁹	9.1	APOA1, LPL
5	Statin Pathway³⁹ Show member pathways Statin Pathway, Pharmacodynamics⁵³	8.6	APOA1, LIPC, LPL
6	Lipoprotein metabolism⁵⁷ Show member pathways HDL-mediated lipid transport⁵⁷ Lipid digestion, mobilization, and transport⁵⁷ Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis⁵⁷ Chylomicron-mediated lipid transport⁵⁷ LDL-mediated lipid transport⁵⁷ Digestion of dietary lipid⁵⁷	8.0	APOA1, LIPC, LIPH, LPL

GO Terms for genes affiliated with Hepatic Lipase Deficiency

Sources:
¹⁸Gene Ontology
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Biological processes related to Hepatic Lipase Deficiency according to GeneCards Suite gene sharing:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	reverse cholesterol transport	GO:0043691	9.9	APOA1, LIPC
2	high-density lipoprotein particle remodeling	GO:0034375	9.7	APOA1, LIPC
3	chylomicron remodeling	GO:0034371	9.7	LIPC, LPL
4	triglyceride homeostasis	GO:0070328	9.5	APOA1, LPL
5	response to drug	GO:0042493	9.4	APOA1, LIPC
6	retinoid metabolic process	GO:0001523	9.4	APOA1, LPL
7	lipid metabolic process	GO:0006629	9.3	LIPC, LPL
8	phototransduction, visible light	GO:0007603	9.2	APOA1, LPL
9	cholesterol homeostasis	GO:0042632	9.0	LIPC, LPL