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

Summaries for Hepatic Lipase Deficiency

Sources:
⁶³Wikipedia, ⁴⁶OMIM, ³²MalaCards
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Wikipedia:⁶³ Hepatic lipase is a form of lipase. It is expressed in the liver and adrenal glands. more...

MalaCards: Hepatic Lipase Deficiency is related to atherosclerosis and myocardial infarction. An important gene associated with Hepatic Lipase Deficiency is LIPC (lipase, hepatic), and among its related pathways are CDP-diacylglycerol biosynthesis I and Fatty Acid Beta Oxidation. The compounds palmitate and guanidine hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include liver and adrenal gland, and related mouse phenotype liver/biliary system.

Description from OMIM:⁴⁶ 614025

Aliases & Classifications for Hepatic Lipase Deficiency

Sources:
²⁰GeneTests, ²²GTR, ⁴⁶OMIM, ⁶⁰UMLS
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Aliases & Descriptions:

hepatic lipase deficiency ²⁰ ²² ⁴⁶ ⁶⁰

Related Diseases for Hepatic Lipase Deficiency

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
See all sources

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

(show top 50) (show all 76)

id	Related Disease	Score	Top Affiliating Genes
1	atherosclerosis	30.3	CES1, LIPC, LPL, APOE, APOA1, LCAT
2	myocardial infarction	30.1	LCAT, APOA1, APOE, LIPC
3	hepatitis	10.9
4	hepatitis a	10.4
5	hepatitis e	10.3
6	hepatitis b	10.1
7	familial lipoprotein lipase deficiency	10.1
8	hmg coa lyase deficiency	10.1
9	hypothyroidism	10.0	LIPC
10	lipoprotein lipase deficiency	10.0	LPL
11	familial hypertriglyceridemia	10.0	LPL
12	lipodystrophy	10.0	LPL
13	acute pancreatitis	10.0	LPL
14	hepatitis c	10.0	LPL
15	thromboembolism	10.0	APOA1
16	cerebral atherosclerosis	10.0	APOA1
17	pancreatitis	10.0	LPL
18	cholestasis	10.0	LIPC, LCAT
19	gout	10.0	LCAT
20	lipoprotein glomerulopathy	10.0	APOE
21	alcohol abuse	10.0	LCAT
22	pick's disease	10.0	APOE
23	lipase deficiency combined	10.0	LPL, LIPC
24	hyperhomocysteinemia	10.0	APOE
25	splenomegaly	10.0	LCAT
26	coronary stenosis	10.0	LIPC, APOA1
27	polycystic ovary syndrome	10.0	LIPC, APOA1
28	acute myocardial infarction	10.0	APOA1, LCAT
29	fish-eye disease	10.0	LCAT, APOA1
30	arcus senilis	10.0	LCAT, APOA1
31	complete lcat deficiency	10.0	APOA1, LCAT
32	amyloidosis, secondary	10.0	APOA1, LCAT
33	arteriosclerosis	10.0	LPL, APOA1
34	proteinuria	10.0	APOA1, LCAT
35	uremia	10.0	LIPC, LPL, LCAT
36	alzheimer's disease	10.0	CES1, APOE
37	xanthomatosis	10.0	APOE, LPL
38	dementia	10.0	LPL, APOE
39	hyperlipoproteinemia type v	10.0	APOE, LPL
40	hyperalphalipoproteinemia	10.0	LIPC, APOA1, LCAT
41	familial combined hyperlipidemia	10.0	APOA1, APOE
42	alagille syndrome	10.0	LCAT, APOA1
43	glucose intolerance	10.0	APOA1, LPL, LIPC
44	essential hypertension	10.0	LPL, APOA1, LCAT
45	hyperglycemia	10.0	LIPC, LPL
46	type 1 diabetes	10.0	LIPC, APOA1, LCAT
47	ischemic heart disease	10.0	LIPC, LPL, APOA1
48	galactosemia	10.0	LIPC, APOA1, LCAT
49	metabolic syndrome x	10.0	LCAT, APOA1, LPL
50	hypobetalipoproteinemia	10.0	APOE, APOA1, LCAT

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

Clinical Features for Hepatic Lipase Deficiency

Sources:
⁴⁶OMIM
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Clinical features from OMIM:

614025

Clinical synopsis from OMIM:

614025

Drugs & Therapeutics for Hepatic Lipase Deficiency

Sources:
⁵CenterWatch, ⁴¹NIH Clinical Center, ⁶ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Hepatic Lipase Deficiency

Drug clinical trials:

Search ClinicalTrials for Hepatic Lipase Deficiency

Search NIH Clinical Center for Hepatic Lipase Deficiency

Search CenterWatch for Hepatic Lipase Deficiency

Genetic Tests for Hepatic Lipase Deficiency

Sources:
²⁰GeneTests, ²²GTR
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Genetic tests related to Hepatic Lipase Deficiency:

id	Genetic test	Affiliating Genes
1	Hepatic Lipase Deficiency²⁰ ²²	LIPC

Anatomical Context for Hepatic Lipase Deficiency

Sources:
³²MalaCards
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MalaCards organs/tissues related to Hepatic Lipase Deficiency:

³²

Liver, Adrenal gland

Animal Models for Hepatic Lipase Deficiency or affiliated genes

Sources:
³⁶MGI
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MGI Mouse Phenotypes related to Hepatic Lipase Deficiency:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system phenotype	MP:0005370	8.0	LPL, APOE, APOA1, LCAT

Publications for Hepatic Lipase Deficiency

Genes related to Hepatic Lipase Deficiency

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc., ⁴⁶OMIM, ⁶²UniProtKB/Swiss-Prot, ²⁰GeneTests
See all sources

Genes related to Hepatic Lipase Deficiency:

id	Symbol	Description	Score	Implication
1	LIPC	lipase, hepatic	21.51	Molecular basis known ⁴⁶ Causative variation ⁶² Genetic Tests ²⁰ GeneCards inferred : Publications, Disorders (show sections)
2	LIPH	lipase, member H	17.14	Molecular basis known ⁴⁶
3	CES1	carboxylesterase 1	15.72	GeneCards inferred : Publications, Disorders (show sections)
4	LCAT	lecithin-cholesterol acyltransferase	12.86	GeneCards inferred : Publications, Disorders (show sections)
5	LPL	lipoprotein lipase	10.01	GeneCards inferred : Publications, Disorders (show sections)
6	APOA1	apolipoprotein A-I	7.15	GeneCards inferred : Publications, Disorders (show sections)
7	APOE	apolipoprotein E	4.29	GeneCards inferred : Publications, Disorders (show sections)

Products for genes related to Hepatic Lipase Deficiency disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	7	7	6
2	LSBio	-	-	7

Genetic Variations for Hepatic Lipase Deficiency

Sources:
⁶²UniProtKB/Swiss-Prot
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Genetic disease variations for Hepatic Lipase Deficiency:

⁶²

id	Symbol	AA change	Variation ID	SNP ID
1	LIPC	p.Ser289Phe	VAR_004209	rs121912502
2	LIPC	p.Thr405Met	VAR_004210	rs28933094

Expression for genes affiliated with Hepatic Lipase Deficiency

Sources:
¹BioGPS, ¹⁵Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hepatic Lipase Deficiency

Search GEO for disease gene expression data for Hepatic Lipase Deficiency.

Pathways for genes affiliated with Hepatic Lipase Deficiency

Sources:
³⁷NCBI BioSystems Database, ²⁹KEGG, ⁵³Reactome, ⁴⁹PharmGKB
See all sources

Pathways related to Hepatic Lipase Deficiency according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	CDP-diacylglycerol biosynthesis I³⁷ Hide members Triacylglyceride Synthesis³⁷	9.5	LPL, LIPC
2	Fatty Acid Beta Oxidation³⁷	9.5	LIPC, LPL
3	Glycerolipid metabolism²⁹	9.5	LIPC, LPL
4	Scavenging by Class A Receptors⁵³	9.1	APOE, APOA1
5	Visual phototransduction⁵³ Hide members Retinoid metabolism and transport⁵³ Diseases associated with visual transduction⁵³	8.5	LPL, APOE, APOA1
6	Lipoprotein metabolism⁵³ Hide members Chylomicron-mediated lipid transport⁵³ Lipid digestion, mobilization, and transport⁵³ HDL-mediated lipid transport⁵³	8.0	LCAT, APOA1, APOE, LPL
7	Metabolism⁵³ Hide members Metabolic pathways²⁹ Metabolism of lipids and lipoproteins⁵³	7.6	LCAT, APOA1, APOE, LPL, LIPC
8	Statin Pathway, Pharmacodynamics⁴⁹ Hide members Statin Pathway³⁷	7.6	LIPC, LPL, APOE, APOA1, LCAT

Compounds for genes affiliated with Hepatic Lipase Deficiency

Sources:
⁴⁴Novoseek, ²⁸IUPHAR, ¹¹DrugBank, ²⁴HMDB, ⁴⁹PharmGKB, ⁵⁹Tocris Bioscience
See all sources

Compounds related to Hepatic Lipase Deficiency according to GeneCards/GeneDecks:

(show top 50) (show all 90)

id	Compound	Score	Top Affiliating Genes
1	palmitate⁴⁴	10.3	LCAT
2	guanidine hydrochloride⁴⁴	9.9	APOA1
3	dopc⁴⁴	9.8	LCAT, LIPC
4	cholesteryl linoleate⁴⁴	9.7	LCAT, CES1
5	alpha tocopherol⁴⁴	9.7	LPL, LCAT
6	pdpc⁴⁴	9.5	APOA1, LCAT
7	p-nitrophenyl butyrate⁴⁴	9.5	LCAT, LPL
8	cholic acid⁴⁴ ²⁸ ¹¹ ²⁴	12.5	CES1, LIPC, LCAT
9	plpc⁴⁴	9.4	LCAT, APOA1
10	torcetrapib⁴⁴	9.4	LCAT, APOA1
11	cholesteryl oleate⁴⁴	9.4	CES1, LPL
12	stanozolol⁴⁴	9.4	LPL, LIPC
13	sodium oleate⁴⁴	9.3	APOA1, LPL
14	stearic acid⁴⁴ ¹¹ ²⁴	11.1	LPL, LIPC, CES1
15	trioleoylglycerol⁴⁴	9.1	APOA1, LPL, LIPC
16	campesterol⁴⁴ ²⁴	10.1	APOA1, APOE, CES1
17	glibenclamide⁴⁴ ²⁸ ⁴⁹ ⁵⁹	12.0	APOA1, APOE, LIPC
18	palmitic acid²⁸ ¹¹ ²⁴	11.0	CES1, LIPC, LPL
19	dimyristoylphosphatidylcholine⁴⁴	9.0	LCAT, APOA1, APOE
20	guanidine⁴⁴ ¹¹ ²⁴	11.0	LCAT, APOA1, APOE
21	fenofibrate⁴⁴ ⁴⁹ ¹¹	10.9	LIPC, LPL, APOA1
22	acetaldehyde⁴⁴ ²⁸ ²⁴	10.9	LCAT, APOA1, APOE
23	niacin⁴⁴ ¹¹	9.9	APOA1, LPL, CES1
24	myristic acid⁴⁴ ¹¹ ²⁴	10.9	LCAT, LPL, LIPC, CES1
25	sodium dodecylsulfate⁴⁴	8.8	LCAT, APOE, LPL, LIPC
26	pioglitazone⁴⁴ ⁴⁹ ²⁸ ¹¹	11.8	LIPC, LPL, APOA1
27	fluvastatin⁴⁴ ⁴⁹ ²⁸ ¹¹	11.8	LPL, APOE, APOA1
28	oleic acid⁴⁴ ²⁸ ¹¹ ²⁴	11.7	CES1, LIPC, LPL
29	gemfibrozil⁴⁴ ²⁸ ¹¹	10.6	LIPC, LPL, APOE, APOA1
30	pravastatin⁴⁴ ⁴⁹ ²⁸ ¹¹ ²⁴	12.5	LCAT, APOA1, APOE, CES1
31	thyroxine⁴⁴ ²⁴	9.5	LIPC, LPL, APOE, APOA1
32	retinyl palmitate⁴⁴ ²⁴	9.4	LCAT, APOA1, APOE, LPL
33	indomethacin⁴⁴ ⁵⁹ ²⁸ ¹¹	11.4	CES1, LPL, APOE, APOA1
34	tamoxifen⁴⁴ ⁴⁹ ²⁸ ¹¹	11.3	APOA1, APOE, LPL, CES1
35	sterol⁴⁴	8.2	LCAT, APOA1, APOE, LIPC, CES1
36	lovastatin⁴⁴ ⁴⁹ ⁵⁹ ²⁸ ¹¹	12.1	APOA1, APOE, LPL, LIPC, CES1
37	intralipid⁴⁴	8.1	LCAT, APOA1, APOE, LPL, LIPC
38	bezafibrate⁴⁴ ²⁸ ¹¹	10.1	LCAT, APOA1, APOE, LPL, LIPC
39	vitamin a⁴⁴ ¹¹ ²⁴	10.0	LCAT, APOA1, APOE, LPL, LIPC
40	simvastatin⁴⁴ ⁴⁹ ⁵⁹ ²⁸ ¹¹ ²⁴	13.0	LCAT, APOA1, APOE, LPL, CES1
41	cholesterol ester⁴⁴	7.6	CES1, LCAT, APOA1, APOE, LPL, LIPC
42	probucol⁴⁴ ¹¹	8.6	LCAT, APOA1, APOE, LPL, LIPC, CES1
43	triacylglycerol⁴⁴	7.6	LCAT, APOA1, APOE, LPL, LIPC, CES1
44	atorvastatin⁴⁴ ⁴⁹ ²⁸ ¹¹ ²⁴	11.6	LCAT, APOA1, APOE, LPL, LIPC, CES1
45	phosphatidylcholine⁴⁴	7.6	LCAT, APOA1, APOE, LPL, LIPC, CES1
46	phospholipid⁴⁴	7.6	LCAT, APOA1, APOE, LPL, LIPC, CES1
47	testosterone⁴⁴ ⁵⁹ ¹¹ ²⁴	10.6	LCAT, APOA1, APOE, LPL, LIPC, CES1
48	cholesterol⁴⁴ ²⁸ ¹¹ ²⁴	10.6	LCAT, APOA1, APOE, LPL, LIPC, CES1
49	estrogen⁴⁴	7.5	LCAT, APOA1, APOE, LPL, LIPC, CES1
50	lipid⁴⁴	7.2	LCAT, APOA1, APOE, LPL, LIPC, LIPH

GO Terms for genes affiliated with Hepatic Lipase Deficiency

Sources:
¹⁶Gene Ontology
See all sources

Cellular components related to Hepatic Lipase Deficiency according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	endocytic vesicle lumen	GO:071682	9.1	APOE, APOA1
2	chylomicron	GO:042627	9.0	LPL, APOE
3	very-low-density lipoprotein particle	GO:034361	8.4	APOA1, APOE, LPL
4	high-density lipoprotein particle	GO:034364	8.3	LIPC, APOE, APOA1, LCAT
5	extracellular space	GO:005615	7.2	LCAT, APOA1, APOE, LPL, LIPC, LIPH

Biological processes related to Hepatic Lipase Deficiency according to GeneCards/GeneDecks:

(show all 25)

id	Name	GO ID	Score	Top Affiliating Genes
1	chylomicron remnant clearance	GO:034382	9.8	APOE, LIPC
2	low-density lipoprotein particle remodeling	GO:034374	9.8	APOE, LIPC
3	triglyceride catabolic process	GO:019433	9.6	LIPC, LPL
4	regulation of Cdc42 protein signal transduction	GO:032489	9.4	APOA1, APOE
5	peripheral nervous system axon regeneration	GO:014012	9.4	APOE, APOA1
6	high-density lipoprotein particle assembly	GO:034380	9.4	APOE, APOA1
7	high-density lipoprotein particle clearance	GO:034384	9.4	APOA1, APOE
8	positive regulation of cholesterol esterification	GO:010873	9.4	APOA1, APOE
9	phospholipid efflux	GO:033700	9.3	APOE, APOA1
10	cholesterol transport	GO:030301	9.3	APOA1, LCAT
11	triglyceride metabolic process	GO:006641	9.2	LPL, APOE
12	cholesterol efflux	GO:033344	9.2	APOE, APOA1
13	fatty acid biosynthetic process	GO:006633	9.2	LIPC, LPL
14	phosphatidylcholine biosynthetic process	GO:006656	9.1	LCAT, APOA1
15	negative regulation of inflammatory response	GO:050728	9.1	APOE, APOA1
16	triglyceride homeostasis	GO:070328	9.0	LIPC, LPL, APOA1
17	lipoprotein biosynthetic process	GO:042158	9.0	LCAT, APOA1, APOE
18	retinoid metabolic process	GO:001523	8.8	LPL, APOE, APOA1
19	very-low-density lipoprotein particle remodeling	GO:034372	8.8	LIPC, LPL, APOE, LCAT
20	phototransduction, visible light	GO:007603	8.7	LPL, APOE, APOA1
21	high-density lipoprotein particle remodeling	GO:034375	8.6	LCAT, APOA1, APOE, LIPC
22	reverse cholesterol transport	GO:043691	8.6	LCAT, APOA1, APOE, LIPC
23	cholesterol homeostasis	GO:042632	8.6	LIPC, APOE, APOA1, LCAT
24	cholesterol metabolic process	GO:008203	8.6	LCAT, APOA1, APOE, LIPC
25	lipoprotein metabolic process	GO:042157	8.3	LPL, APOE, APOA1, LCAT

Molecular functions related to Hepatic Lipase Deficiency according to GeneCards/GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	apolipoprotein binding	GO:034185	9.4	LIPC, LPL
2	phospholipase activity	GO:004620	9.2	LIPH, LIPC, LPL
3	phosphatidylcholine-sterol O-acyltransferase activator activity	GO:060228	9.2	APOA1, APOE
4	triglyceride lipase activity	GO:004806	9.2	LIPC, LPL
5	cholesterol transporter activity	GO:017127	9.1	APOE, APOA1
6	beta-amyloid binding	GO:001540	9.1	APOE, APOA1
7	heparin binding	GO:008201	8.7	LIPH, LIPC, LPL, APOE