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

Summaries for Hepatic Lipase Deficiency

Sources:
⁶⁴Wikipedia, ⁴⁶OMIM, ³²MalaCards
See all sources

Wikipedia:⁶⁴ Hepatic lipase, also called hepatic triglyceride lipase (HTGL) or LIPC (for \"lipase, hepatic\"), is a... more...

MalaCards based summary: Hepatic Lipase Deficiency is related to hypoalphalipoproteinemia and myocardial infarction, and has symptoms including autosomal recessive inheritance, eruptive xanthomas and angina pectoris. An important gene associated with Hepatic Lipase Deficiency is LIPC (lipase, hepatic), and among its related pathways are Folate Metabolism and Binding and Uptake of Ligands by Scavenger Receptors. The compounds campesterol and 22r-hydroxycholesterol have been mentioned in the context of this disorder. Affiliated tissues include liver and adrenal gland, and related mouse phenotype integument.

Description from OMIM:⁴⁶ 614025

Aliases & Classifications for Hepatic Lipase Deficiency

Sources:
²¹GeneTests, ²³GTR, ⁴⁶OMIM, ⁶¹UMLS
See all sources

Hepatic Lipase Deficiency, Aliases & Descriptions:

Name: Hepatic Lipase Deficiency ²¹ ²³ ⁴⁶ ⁶¹

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)

Related Diseases for Hepatic Lipase Deficiency

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

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

(show all 43)

id	Related Disease	Score	Top Affiliating Genes
1	hypoalphalipoproteinemia	30.2	APOA1, LIPC, LPL
2	myocardial infarction	29.9	APOE, APOA1, LIPC
3	atherosclerosis	29.8	LPL, LIPC, APOA1, APOE
4	hepatitis	10.9
5	cerebral atherosclerosis	10.4	APOA1
6	familial hypertriglyceridemia	10.4	LPL
7	hyperalphalipoproteinemia	10.2	LIPC, APOA1
8	hmg coa lyase deficiency	10.2
9	lipase deficiency combined	10.2	LIPC, LPL
10	coronary stenosis	10.1	APOA1, LIPC
11	polycystic ovary syndrome	10.0	LIPC, APOA1
12	familial combined hyperlipidemia	10.0	APOE, APOA1
13	hypobetalipoproteinemia	10.0	APOE, APOA1
14	hyperlipoproteinemia type v	10.0	APOE, LPL
15	arteriosclerosis	10.0	LPL, APOA1
16	xanthomatosis	10.0	APOE, LPL
17	age related macular degeneration	10.0	LIPC, APOE
18	uremia	10.0	LIPC, LPL
19	glucose intolerance	9.9	LPL, APOA1, LIPC
20	fatty liver disease	9.9	LPL, LIPC, APOA1
21	coronary artery anomaly	9.9	LIPC, APOA1, LPL
22	hyperinsulinism	9.9	APOA1, LIPC, LPL
23	chronic kidney failure	9.9	LPL, LIPC, APOA1
24	insulin resistance	9.8	APOA1, LIPC, LPL
25	diabetic nephropathy	9.8	APOE, APOA1, LIPC
26	norum disease	9.8	APOA1, APOE, LPL
27	abetalipoproteinemia	9.8	LPL, APOA1, APOE
28	tangier disease	9.8	APOA1, LPL, APOE
29	amyloidosis	9.8	APOE, APOA1, LPL
30	nephrotic syndrome	9.8	LPL, APOA1, APOE
31	stroke, ischemic	9.8	APOE, APOA1
32	primary hyperoxaluria	9.7	LIPC, APOA1, APOE
33	hypertension	9.7	LPL, APOE, APOA1
34	cerebrovascular disease	9.7	LIPC, LPL, APOE
35	diabetes mellitus	9.6	LPL, APOA1, APOE
36	hyperlipidemia type 3	9.6	APOE, APOA1, LIPC, LPL
37	familial hypercholesterolemia	9.6	LIPC, LPL, APOA1, APOE
38	hypertriglyceridemia	9.6	APOE, APOA1, LIPC, LPL
39	familial hyperlipidemia	9.6	LPL, LIPC, APOA1, APOE
40	hypercholesterolemia	9.6	APOE, APOA1, LIPC, LPL
41	vascular disease	9.6	LIPC, APOE, LPL, APOA1
42	type 2 diabetes mellitus	9.6	LPL, APOE, LIPC, APOA1
43	obesity	9.6	APOA1, LIPC, APOE, LPL

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

Symptoms for Hepatic Lipase Deficiency

Sources:
⁴⁶OMIM, ⁵⁸The Human Phenotype Ontology
See all sources

Symptoms by clinical synopsis from OMIM:

614025

Clinical features from OMIM:

614025

HPO human phenotypes related to Hepatic Lipase Deficiency:

id	Description	HPO Source Accession
1	autosomal recessive inheritance	HP:0000007
2	eruptive xanthomas	HP:0001013
3	angina pectoris	HP:0001681

Drugs & Therapeutics for Hepatic Lipase Deficiency

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

Drug clinical trials:

Search ClinicalTrials for Hepatic Lipase Deficiency

Search NIH Clinical Center for Hepatic Lipase Deficiency

Genetic Tests for Hepatic Lipase Deficiency

Sources:
²¹GeneTests, ²³GTR
See all sources

Genetic tests related to Hepatic Lipase Deficiency:

id	Genetic test	Affiliating Genes
1	Hepatic Lipase Deficiency²¹ ²³	LIPC

Anatomical Context for Hepatic Lipase Deficiency

Sources:
³²MalaCards
See all sources

MalaCards organs/tissues related to Hepatic Lipase Deficiency:

³²

Liver, Adrenal gland

Animal Models for Hepatic Lipase Deficiency or affiliated genes

Sources:
³⁶MGI
See all sources

MGI Mouse Phenotypes related to Hepatic Lipase Deficiency:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	integument phenotype	MP:0010771	8.0	LPL, LIPH, APOA1, APOE

Publications for Hepatic Lipase Deficiency

Sources:
⁵¹PubMed
See all sources

Articles related to Hepatic Lipase Deficiency:

(show all 29)

id	Title	Authors	Year
1	Hepatic lipase deficiency in a Middle-Eastern-Arabic male. (22798447)	Al Riyami N.... Frohlich J.	2010
2	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
3	Effect of fenofibrate on plasma lipoprotein composition and kinetics in patients with complete hepatic lipase deficiency. (16224048)	Ruel I.L.... Couture P.	2005
4	Plasma metabolism of apoB-containing lipoproteins in patients with hepatic lipase deficiency. (15910863)	Ruel I.L.... Lamarche B.	2005
5	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
6	Severe hypoalphalipoproteinemia in mice expressing human hepatic lipase deficient in binding to heparan sulfate proteoglycan. (15292235)	BROWN R.J.... Yao Z.	2004
7	Lipoprotein metabolism in subjects with hepatic lipase deficiency. (15045702)	Tilly-Kiesi M.... Lichtenstein A.H.	2004
8	Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians. (12777476)	Ruel I.L.... Lamarche B.	2003
9	Hepatic lipase deficiency attenuates mouse ovarian progesterone production leading to decreased ovulation and reduced litter size. (11906928)	Wade R.L.... Dyer C.A.	2002
10	Hepatic lipase deficiency decreases the selective uptake of HDL-cholesteryl esters in vivo. (10787427)	Lambert G.... Santamarina-Fojo S.	2000
11	Atorvastatin in the management of an index patient with complete hepatic lipase deficiency. (10208500)	Hegele R.A.... Connelly P.W.	1999
12	Hepatic lipase deficiency. (9885775)	Connelly P.W.... Hegele R.A.	1998
13	Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene. (9050773)	Knudsen P.... Ehnholm C.	1997
14	Effects of short-term stanozolol administration on serum lipoproteins in hepatic lipase deficiency. (9284885)	Bausserman L.L.... Herbert P.N.	1997
15	Hepatic lipase deficiency increases plasma cholesterol but reduces susceptibility to atherosclerosis in apolipoprotein E-deficient mice. (9153204)	Mezdour H.... Maeda N.	1997
16	Acute dyslipoproteinemia induced by interleukin-2: lecithin:cholesteryl acyltransferase, lipoprotein lipase, and hepatic lipase deficiencies. (9141552)	Kwong L.K.... Wilson D.E.	1997
17	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
18	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
19	Molecular characterization of human hepatic lipase deficiency. In vitro expression of two naturally occurring mutations. (8123642)	Durstenfeld A.... Doolittle M.H.	1994
20	Beta-VLDL in hepatic lipase deficiency induces apoE-mediated cholesterol ester accumulation in macrophages. (8364012)	Huff M.W.... Hegele R.A.	1993
21	Hepatic lipase deficiency. Clinical, biochemical, and molecular genetic characteristics. (8485124)	Hegele R.A.... Connelly P.W.	1993
22	The molecular basis of hepatic lipase deficiency. (1933710)	Hegele R.A.	1991
23	Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency. (1883393)	Hegele R.A.... Connelly P.W.	1991
24	Plasma lipoproteins in familial hepatic lipase deficiency. (2297346)	Connelly P.W.... Little J.A.	1990
25	The rabbit as an animal model of hepatic lipase deficiency. (2930766)	Clay M.A.... Barter P.J.	1989
26	Large buoyant LDL-like particles in hepatic lipase deficiency. (2719594)	Auwerx J.H.... Brunzell J.D.	1989
27	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
28	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
29	Familial hepatic lipase deficiency. (3799360)	Little J.A.... Connelly P.W.	1986

Genes related to Hepatic Lipase Deficiency

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ⁴⁶OMIM, ⁷Clinvar, ⁶³UniProtKB/Swiss-Prot, ²¹GeneTests
See all sources

Genes related to Hepatic Lipase Deficiency:

- Elite gene

id	Symbol	Description	Score	Implication
1	LIPC	lipase, hepatic	22.20	Molecular basis known ⁴⁶ Pathogenic ⁷ Causative variation ⁶³ Genetic Tests ²¹ GeneCards inferred via : Publications, Disorders (show sections)
2	LIPH	lipase, member H	16.00	Molecular basis known ⁴⁶
3	APOA1	apolipoprotein A-I	14.10	GeneCards inferred via : Publications (show sections)
4	LPL	lipoprotein lipase	10.10	GeneCards inferred via : Publications (show sections)
5	APOE	apolipoprotein E	6.10	GeneCards inferred via : Publications (show sections)

Products for genes related to Hepatic Lipase Deficiency disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	5	-	5	5
2	Novus Biologicals	4	5	4	-

Variations for Hepatic Lipase Deficiency

Sources:
⁶³UniProtKB/Swiss-Prot, ⁷Clinvar, ⁸dbSNP
See all sources

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

⁶³

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

Clinvar genetic disease variations for Hepatic Lipase Deficiency:

⁷

id	Gene	Name	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:
²BioGPS, ¹⁶Gene Expression Omnibus DataSets
See all sources

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:
⁴⁹PathCards, ³⁷NCBI BioSystems Database, ⁵⁴Reactome, ³⁰KEGG, ⁵⁰PharmGKB
See all sources

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

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Folate Metabolism³⁷ Show member pathways Vitamin B12 Metabolism³⁷	9.3	APOE, APOA1
2	Binding and Uptake of Ligands by Scavenger Receptors⁵⁴ Show member pathways Scavenging by Class B Receptors⁵⁴ Scavenging of Heme from Plasma⁵⁴ Scavenging by Class H Receptors⁵⁴ Scavenging by Class A Receptors⁵⁴ Scavenging by Class F Receptors⁵⁴	9.3	APOE, APOA1
3	triacylglycerol biosynthesis³⁷ Show member pathways phosphatidylglycerol biosynthesis II (non-plastidic)³⁷ CDP-diacylglycerol biosynthesis I³⁷ Triacylglyceride Synthesis³⁷	9.2	LIPC, LPL
4	Glycerolipid metabolism³⁰ Show member pathways Acyl chain remodeling of DAG and TAG⁵⁴	9.2	LIPC, LPL
5	Mitochondrial LC-Fatty Acid Beta-Oxidation³⁷ Show member pathways fatty acid beta-oxidation III (unsaturated, odd number)³⁷ Fatty Acid Beta Oxidation³⁷	9.2	LIPC, LPL
6	PPAR signaling pathway³⁰ Show member pathways fatty acid beta-oxidation VI (peroxisome)³⁷	9.0	LPL, APOA1
7	Diseases associated with visual transduction⁵⁴ Show member pathways Retinoid metabolism and transport⁵⁴ Biosynthesis of A2E, implicated in retinal degradation⁵⁴ The retinoid cycle in cones (daylight vision)⁵⁴ Visual phototransduction⁵⁴ Retinoid cycle disease events⁵⁴	8.5	APOE, APOA1, LPL
8	Metabolism⁵⁴ Show member pathways Metabolic pathways³⁰ Metabolism of lipids and lipoproteins⁵⁴	8.1	LPL, LIPC, APOA1, APOE
9	Lipoprotein metabolism⁵⁴ Show member pathways LDL-mediated lipid transport⁵⁴ Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis⁵⁴ HDL-mediated lipid transport⁵⁴ Chylomicron-mediated lipid transport⁵⁴ Lipid digestion, mobilization, and transport⁵⁴	8.1	LPL, LIPC, APOA1, APOE
10	Statin Pathway³⁷ Show member pathways Statin Pathway, Pharmacodynamics⁵⁰	8.1	LPL, LIPC, APOA1, APOE

Compounds for genes affiliated with Hepatic Lipase Deficiency

Sources:
⁴⁴Novoseek, ²⁵HMDB, ²⁹IUPHAR, ¹²DrugBank, ⁵⁰PharmGKB, ⁶⁰Tocris Bioscience
See all sources

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

(show top 50) (show all 359)

id	Compound	Score	Top Affiliating Genes
1	campesterol⁴⁴ ²⁵	10.7	APOA1, APOE
2	22r-hydroxycholesterol⁴⁴ ²⁹	10.6	APOE, APOA1
3	stanozolol⁴⁴	9.6	LPL, LIPC
4	dimyristoylphosphatidylcholine⁴⁴	9.6	APOA1, APOE
5	7-ketocholesterol⁴⁴ ²⁵	10.5	APOE, APOA1
6	castanospermine⁴⁴	9.5	LPL, LIPC
7	sodium oleate⁴⁴	9.4	LPL, APOA1
8	sele⁴⁴	9.4	LPL, APOE
9	fenofibric acid⁴⁴ ²⁹	10.4	LPL, APOA1
10	stavudine⁴⁴ ¹²	10.3	LPL, APOA1
11	hind iii⁴⁴	9.3	LPL, LIPC
12	ciprofibrate⁴⁴ ²⁹	10.3	APOA1, LPL
13	glibenclamide⁴⁴ ²⁹ ⁵⁰ ⁶⁰	12.3	APOE, APOA1, LIPC
14	atenolol⁴⁴ ⁵⁰ ²⁹ ²⁵ ¹²	13.2	APOE, APOA1
15	sterol⁴⁴	9.2	APOA1, LIPC, APOE
16	TG(16:1(9Z)/14:0/18:1(9Z))[iso6]²⁵	9.2	LPL, LIPC
17	xbai⁴⁴	9.2	LPL, APOE
18	sodium dodecylsulfate⁴⁴	9.1	APOE, LIPC, LPL
19	doxazosin⁴⁴ ¹²	10.0	APOA1, LPL
20	carbohydrates⁴⁴	9.0	LIPC, LPL, APOE
21	trioleoylglycerol⁴⁴	9.0	LIPC, LPL, APOA1
22	pioglitazone²⁹ ⁴⁴ ⁵⁰ ¹²	12.0	LPL, LIPC, APOA1
23	retinyl palmitate⁴⁴ ²⁵	9.9	APOE, APOA1, LPL
24	fluvastatin⁴⁴ ⁵⁰ ²⁹ ¹²	11.9	APOE, APOA1, LPL
25	guanidine hydrochloride⁴⁴	8.9	LPL, APOE, APOA1
26	TG(15:0/18:1(9Z)/18:3(9Z,12Z,15Z))[iso6]²⁵	8.9	LPL, LIPC
27	pravastatin⁴⁴ ⁵⁰ ²⁹ ²⁵ ¹²	12.9	LPL, APOA1, APOE
28	alpha tocopherol⁴⁴	8.9	LPL, APOA1, APOE
29	palmitate⁴⁴	8.9	APOA1, LPL, APOE
30	simvastatin⁴⁴ ⁵⁰ ⁶⁰ ²⁹ ²⁵ ¹²	13.9	APOA1, LPL, APOE
31	guanine⁴⁴ ²⁵ ¹²	10.8	LPL, APOE, APOA1
32	indomethacin⁴⁴ ²⁹ ⁶⁰ ¹²	11.7	LPL, APOA1, APOE
33	tamoxifen⁴⁴ ⁵⁰ ²⁹ ¹²	11.7	APOE, LPL, APOA1
34	intralipid⁴⁴	8.5	APOA1, LIPC, LPL, APOE
35	probucol⁴⁴ ¹²	9.5	APOE, LPL, APOA1, LIPC
36	gemfibrozil²⁹ ⁴⁴ ¹²	10.5	LIPC, LPL, APOE, APOA1
37	cholesterol ester⁴⁴	8.5	LPL, APOE, APOA1, LIPC
38	bezafibrate⁴⁴ ²⁹ ¹²	10.5	LIPC, LPL, APOA1, APOE
39	fenofibrate⁴⁴ ⁵⁰ ¹²	10.5	LIPC, APOA1, APOE, LPL
40	triacylglycerol⁴⁴	8.5	LPL, APOE, APOA1, LIPC
41	lovastatin⁴⁴ ⁵⁰ ⁶⁰ ²⁹ ¹²	12.5	APOA1, APOE, LPL, LIPC
42	atorvastatin⁴⁴ ⁵⁰ ²⁹ ²⁵ ¹²	12.5	APOA1, LIPC, LPL, APOE
43	thyroxine⁴⁴ ²⁵	9.5	LPL, LIPC, APOA1, APOE
44	phosphatidylcholine⁴⁴	8.5	LPL, APOE, LIPC, APOA1
45	vitamin a⁴⁴ ²⁵ ¹²	10.5	APOA1, APOE, LIPC, LPL
46	phospholipid⁴⁴	8.5	APOE, LIPC, LPL, APOA1
47	testosterone⁴⁴ ⁶⁰ ²⁵ ¹²	11.4	APOE, APOA1, LIPC, LPL
48	cholesterol⁴⁴ ²⁹ ²⁵ ¹²	11.4	APOA1, LPL, LIPC, APOE
49	estrogen⁴⁴	8.3	LIPC, LPL, APOE, APOA1
50	lipid⁴⁴	7.9	LIPC, APOE, LPL, LIPH, APOA1

GO Terms for genes affiliated with Hepatic Lipase Deficiency

Sources:
¹⁷Gene 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	9.3	APOA1, APOE
2	high-density lipoprotein particle	GO:034364	8.9	LIPC, APOA1, APOE
3	chylomicron	GO:042627	8.8	LPL, APOE
4	very-low-density lipoprotein particle	GO:034361	8.6	LPL, APOA1, APOE
5	extracellular space	GO:005615	7.4	APOE, APOA1, LIPH, LIPC, LPL

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

(show all 23)

id	Name	GO ID	Score	Top Affiliating Genes
1	chylomicron remnant clearance	GO:034382	9.7	APOE, LIPC
2	regulation of Cdc42 protein signal transduction	GO:032489	9.6	APOA1, APOE
3	low-density lipoprotein particle remodeling	GO:034374	9.6	LIPC, APOE
4	peripheral nervous system axon regeneration	GO:014012	9.6	APOA1, APOE
5	high-density lipoprotein particle assembly	GO:034380	9.6	APOA1, APOE
6	lipoprotein biosynthetic process	GO:042158	9.6	APOA1, APOE
7	high-density lipoprotein particle clearance	GO:034384	9.6	APOE, APOA1
8	positive regulation of cholesterol esterification	GO:010873	9.5	APOA1, APOE
9	phospholipid efflux	GO:033700	9.5	APOE, APOA1
10	cholesterol efflux	GO:033344	9.3	APOE, APOA1
11	negative regulation of inflammatory response	GO:050728	9.3	APOA1, APOE
12	triglyceride catabolic process	GO:019433	9.3	LPL, LIPC
13	high-density lipoprotein particle remodeling	GO:034375	9.2	LIPC, APOA1, APOE
14	reverse cholesterol transport	GO:043691	9.2	APOE, APOA1, LIPC
15	cholesterol homeostasis	GO:042632	9.2	APOE, APOA1, LIPC
16	cholesterol metabolic process	GO:008203	9.2	LIPC, APOA1, APOE
17	triglyceride metabolic process	GO:006641	9.0	LPL, APOE
18	very-low-density lipoprotein particle remodeling	GO:034372	9.0	LPL, LIPC, APOE
19	triglyceride homeostasis	GO:070328	8.9	LPL, LIPC, APOA1
20	fatty acid biosynthetic process	GO:006633	8.9	LPL, LIPC
21	lipoprotein metabolic process	GO:042157	8.8	APOE, APOA1, LPL
22	retinoid metabolic process	GO:001523	8.8	LPL, APOA1, APOE
23	phototransduction, visible light	GO:007603	8.8	APOE, APOA1, LPL

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

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	phosphatidylcholine-sterol O-acyltransferase activator activity	GO:060228	9.4	APOA1, APOE
2	cholesterol transporter activity	GO:017127	9.4	APOE, APOA1
3	phospholipid binding	GO:005543	9.3	APOA1, APOE
4	apolipoprotein binding	GO:034185	9.2	LPL, LIPC
5	triglyceride lipase activity	GO:004806	9.1	LPL, LIPC
6	beta-amyloid binding	GO:001540	9.0	APOA1, APOE
7	phospholipase activity	GO:004620	8.9	LPL, LIPC, LIPH
8	heparin binding	GO:008201	8.3	APOE, LIPH, LIPC, LPL

Products for genes affiliated with Hepatic Lipase Deficiency

Antibodies
Proteins
Lysates

Antibodies
Proteins
Kits and Assays

Sources for Hepatic Lipase Deficiency

¹antibodies-online

²BioGPS

³BitterDB

⁴CDC

⁵Cell Signaling Technology

⁶ClinicalTrials

⁷Clinvar

⁸dbSNP

⁹Disease Ontology

¹⁰diseasecard

¹¹DISEASES

¹²DrugBank

¹³EMD Millipore

¹⁴ExPASy

¹⁵FMA

¹⁶Gene Expression Omnibus DataSets

¹⁷Gene Ontology

¹⁸GeneCards

¹⁹GeneDecks

²⁰GeneReviews

²¹GeneTests

²²Genetics Home Reference

²³GTR

²⁴HGMD

²⁵HMDB

²⁶ICD10

²⁷ICD10 via Orphanet

²⁸ICD9CM

²⁹IUPHAR

³⁰KEGG

³¹LifeMap Discovery®

³²MalaCards

³³MedlinePlus

³⁴MeSH

³⁵MESH via Orphanet

³⁶MGI

³⁷NCBI BioSystems Database

³⁸NCBI Bookshelf

³⁹NCIt

⁴⁰NDF-RT

⁴¹NIH Clinical Center

⁴²NIH Rare Diseases

⁴³NINDS

⁴⁴Novoseek

⁴⁵Novus Biologicals

⁴⁶OMIM

⁴⁷OMIM via Orphanet

⁴⁸Orphanet

⁴⁹PathCards

⁵⁰PharmGKB

⁵¹PubMed

⁵²QIAGEN

⁵³R&D Systems

⁵⁴Reactome

⁵⁵SinoBiological

⁵⁶SNOMED-CT

⁵⁷SNOMED-CT via Orphanet

⁵⁸The Human Phenotype Ontology

⁵⁹Thomson Reuters

⁶⁰Tocris Bioscience

⁶¹UMLS

⁶²UMLS via Orphanet

⁶³UniProtKB/Swiss-Prot

⁶⁴Wikipedia

MCID: HPT025 MIFTS: 47	Hepatic Lipase Deficiency malady Genetic diseases (common) category
3 symptoms, 5 genes, 2 tissues, 43 related diseases, clinical trials, genetic tests Download this MalaCard Expand all tables

Hepatic Lipase Deficiency malady