MCID: LPP001
MIFTS: 50

Lipoprotein Lipase Deficiency malady

Metabolic, Genetic categories

Summaries for Lipoprotein Lipase Deficiency

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Lipoprotein lipase deficiency (also known as \"chylomicronemia\", \"chylomicronemia syndrome\" and... more...

MalaCards: Lipoprotein Lipase Deficiency, also known as familial lipoprotein lipase deficiency, is related to familial lipoprotein lipase deficiency and hypertriglyceridemia. An important gene associated with Lipoprotein Lipase Deficiency is LPL (lipoprotein lipase), and among its related pathways are Scavenging by Class B Receptors and Selenium Pathway. The compounds alpha tocopherol and rosiglitazone have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and heart, and related mouse phenotypes are renal/urinary system and vision/eye.

Description from OMIM:47 238600

Aliases & Classifications for Lipoprotein Lipase Deficiency

Sources:
47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Metabolic


Aliases & Descriptions:

lipoprotein lipase deficiency 47
familial lipoprotein lipase deficiency 49
hyperlipoproteinemia type i 61
lpl deficiency 49


External Ids:

OMIM47 238600
ICD10 via Orphanet26 E78.3

Related Diseases for Lipoprotein Lipase Deficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 136)
idRelated DiseaseScoreTop Affiliating Genes
1familial lipoprotein lipase deficiency31.6LPL, INTS8, GPIHBP1
2hypertriglyceridemia31.0CETP, C3, PNLIP, PLTP, PLA2G7, INS
3acute pancreatitis30.5PNLIP, LPL, APOC2
4atherosclerosis30.4PON1, LPL, LPA, APOB, APOC2, APOC3
5biotinidase deficiency30.3BTD
6thrombocytopenia30.3HP
7familial hypertriglyceridemia30.2LPL, APOB, APOC3
8hypercholesterolemia30.2PON1, LPL, LPA, APOB, APOC2, APOC3
9hepatic lipase deficiency10.3
10lip disease10.3
11pancytopenia10.2
12biotin deficiency10.2
13protein s deficiency10.2
14b cell deficiency10.2
15urticaria10.2
16lipase deficiency combined10.2
17hypoglycemia10.0
18t cell deficiency10.0
19gout10.0LCAT
20alcohol abuse10.0LCAT
21steatorrhea10.0PNLIP
22thromboembolism10.0APOA1
23hepatitis10.0HP
24glycogen storage disease10.0BTD
25pneumonia10.0PLA2G7
26hepatitis b10.0APOA1
27alopecia10.0BTD
28lupus erythematosus10.0C3
29growth hormone deficiency10.0INS
30vasculitis10.0C3
31blindness10.0INS
32fatty liver disease10.0INS
33dilated cardiomyopathy10.0PLA2G7, LPL
34amyotrophic lateral sclerosis10.0PON1
35hyperthyroidism10.0INS
36nephritis10.0C3
37carotid stenosis10.0PON1
38hepatocellular carcinoma10.0INS
39dermatitis10.0BTD
40hyperandrogenism10.0INS
41cerebral atherosclerosis10.0APOA1
42cholestasis10.0CETP, LCAT
43metabolic acidosis10.0BTD
44sickle cell disease10.0HP, BTD
45endometriosis10.0HP
46colorectal cancer10.0PLA2G7, LPL
47amenorrhea10.0INS
48splenomegaly10.0HP, LCAT
49fish-eye disease10.0LCAT, APOA1
50chylomicron retention disease10.0APOB

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



Diseases related to lipoprotein lipase deficiency

Clinical Features for Lipoprotein Lipase Deficiency

Sources:
47OMIM
See all sources

Clinical features from OMIM:

238600

Clinical synopsis from OMIM:

238600

Drugs & Therapeutics for Lipoprotein Lipase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Lipoprotein Lipase Deficiency

Drug clinical trials:

Search ClinicalTrials for Lipoprotein Lipase Deficiency

Search NIH Clinical Center for Lipoprotein Lipase Deficiency

Search CenterWatch for Lipoprotein Lipase Deficiency

Genetic Tests for Lipoprotein Lipase Deficiency

Anatomical Context for Lipoprotein Lipase Deficiency

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Lipoprotein Lipase Deficiency:

33
Skin, Kidney, Heart, Pancreas, T cells, B cells, Endothelial, Pancreatic islet

Animal Models for Lipoprotein Lipase Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Lipoprotein Lipase Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.5C3, HP, BTD
2MP:00053919.3C3, PLTP, BTD
3MP:00053757.9APOE, APOC3, LPL, INS, PNLIP, C3
4MP:00053707.0LCAT, APOA1, APOE, APOB, LPL, HP
5MP:00053856.7LCAT, APOA1, APOE, APOC3, APOB, LPL
6MP:00053765.6C3, LCAT, APOA1, APOE, APOC3, APOB

Publications for Lipoprotein Lipase Deficiency

Sources:
51PubMed
See all sources

Articles related to Lipoprotein Lipase Deficiency:

(show top 50)    (show all 159)
idTitleAuthorsYear
1
Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial. (22717743)
2013
2
Adipose-specific lipoprotein lipase deficiency more profoundly affects brown than white fat biology. (23542081)
2013
3
Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene. (23761384)
2013
4
Angptl3 deficiency is associated with increased insulin sensitivity, lipoprotein lipase activity, and decreased serum free fatty acids. (23661675)
2013
5
Lipoprotein lipase deficiency in chronic kidney disease is accompanied by down-regulation of endothelial GPIHBP1 expression. (22009636)
2012
6
Localization of lipoprotein lipase and GPIHBP1 in mouse pancreas: effects of diet and leptin deficiency. (23186339)
2012
7
Gene therapy for lipoprotein lipase deficiency. (22691709)
2012
8
Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease. (21757691)
2011
9
A sweet heart: increased cardiac glucose uptake in patients with lipoprotein lipase deficiency. (21845510)
2011
10
Lipoprotein lipase deficiency with visceral xanthomas. (20143060)
2010
11
Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review. (19295657)
2009
12
Correction of feline lipoprotein lipase deficiency with adeno-associated virus serotype 1-mediated gene transfer of the lipoprotein lipase S447X beneficial mutation. (16716106)
2006
13
Gene therapy for lipoprotein lipase deficiency: working toward clinical application. (16259561)
2005
14
Effect of fenofibrate on plasma lipoprotein composition and kinetics in patients with complete hepatic lipase deficiency. (16224048)
2005
15
Lipoprotein lipase deficiency--rare or common? (12652096)
2002
16
A family-based study of hyperinsulinemia and hypertriglyceridemia in heterozygous lipoprotein lipase deficiency. (11750290)
2002
17
Lipoprotein lipase deficiency, familial]. (11528646)
2001
18
Familial lipoprotein lipase deficiency]. (11347061)
2001
19
A Japanese patient with lipoprotein lipase deficiency homozygous for the Gly188Glu mutation prevalent worldwide. (11425044)
2000
20
Linkage of low-density lipoprotein size to the lipoprotein lipase gene in heterozygous lipoprotein lipase deficiency. (9973300)
1999
21
Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy. (10199753)
1999
22
Detection of a new compound heterozygote (del G916/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients. (10407506)
1999
23
Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study. (9738727)
1998
24
Lipoprotein lipase deficiency with pancreatitis in mink: biochemical characterization and pathology. (9186902)
1997
25
Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His). (8728326)
1996
26
ApoE enhances lipid uptake by macrophages in lipoprotein lipase deficiency during pregnancy. (8725150)
1996
27
Prevention of raised low-density lipoprotein cholesterol in a patient with familial hypercholesterolaemia and lipoprotein lipase deficiency. (8097805)
1993
28
Cholesteryl ester transfer activity in lipoprotein lipase deficiency and other primary hypertriglyceridemias. (8149644)
1993
29
Alterations in erythrocyte membrane lipid composition and fluidity in primary lipoprotein lipase deficiency. (1610917)
1992
30
Lipolysis of triglyceride-rich lipoproteins activates coagulant factor XII: a study in familial lipoprotein-lipase deficiency. (1418087)
1992
31
Distribution of apolipoprotein(a) in the plasma from patients with lipoprotein lipase deficiency and with type III hyperlipoproteinemia. No evidence for a triglyceride-rich precursor of lipoprotein(a). (1430218)
1992
32
A G----C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family. (1530621)
1992
33
Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript. (1737848)
1992
34
Molecular genetics of human lipoprotein lipase deficiency. (1518507)
1992
35
Management of patients with severe hypertriglyceridaemia during pregnancy: report of two cases with familial lipoprotein lipase deficiency. (1554674)
1992
36
Amino acid substitution (Ile194-->Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin. (1674945)
1991
37
Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia. (1872917)
1991
38
Plasma lipoproteins in familial hepatic lipase deficiency. (2297346)
1990
39
Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation. (2394828)
1990
40
Detection and characterization of the heterozygote state for lipoprotein lipase deficiency. (2719595)
1989
41
Gene polymorphism identified by PvuII in familial lipoprotein lipase deficiency. (2574035)
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. (3244012)
1988
43
Accumulation of large VLDL in cyclophosphamide treated rabbits. Relationship with lipoprotein lipase deficiency. (3401226)
1988
44
Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients. (3944267)
1986
45
Postheparin plasma lipoprotein lipase activity in heterozygotes of familial lipoprotein lipase deficiency. (3983953)
1985
46
Congenital lipoprotein lipase deficiency in hyperlipemic kitten siblings. (15311389)
1984
47
Phenotypic heterogeneity in the extended pedigree of a proband with lipoprotein lipase deficiency. (6645961)
1983
48
Effects of heparin infusion on plasma lipoproteins in subjects with lipoprotein lipase deficiency. Evidence for a role of hepatic endothelial lipase in the metabolism of high-density lipoprotein subfractions in man. (7160473)
1982
49
Severe hypertriglyceridemia associated with pancytopenia and lipoprotein lipase deficiency. (7469215)
1981
50
Hypertriglyceridemia associated with thrombocytopenia and lipoprotein lipase deficiency. (7294572)
1981

Genetic Variations for Lipoprotein Lipase Deficiency

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Lipoprotein Lipase Deficiency:

63 (show all 68)
id Symbol AA change Variation SNP ID
1LPLp.Arg102SerVAR_004211
2LPLp.Trp113GlyVAR_004212
3LPLp.Trp113ArgVAR_004213
4LPLp.His163ArgVAR_004214
5LPLp.Gly169GluVAR_004215
6LPLp.Gly181SerVAR_004216
7LPLp.Asp183GlyVAR_004217
8LPLp.Asp183AsnVAR_004218
9LPLp.Pro184ArgVAR_004219
10LPLp.Ala185ThrVAR_004220
11LPLp.Ser199CysVAR_004221
12LPLp.Ala203ThrVAR_004222
13LPLp.Asp207GluVAR_004223
14LPLp.His210GlnVAR_004224
15LPLp.Gly215GluVAR_004225
16LPLp.Ser220ArgVAR_004226
17LPLp.Ile221ThrVAR_004227
18LPLp.Gly222GluVAR_004228
19LPLp.Asp231GluVAR_004229
20LPLp.Ile232SerVAR_004230
21LPLp.Pro234LeuVAR_004231
22LPLp.Cys243SerVAR_004232
23LPLp.Arg270HisVAR_004233
24LPLp.Ser271ThrVAR_004234rs28934893
25LPLp.Asp277AsnVAR_004235
26LPLp.Ser278CysVAR_004236
27LPLp.Ser286GlyVAR_004237
28LPLp.Ser286ArgVAR_004238
29LPLp.Asn318SerVAR_004239rs268
30LPLp.Met328ThrVAR_004240
31LPLp.Leu330ProVAR_004241
32LPLp.Ala361ThrVAR_004242
33LPLp.Leu392ValVAR_004243
34LPLp.Glu437LysVAR_004245
35LPLp.Glu437ValVAR_004246
36LPLp.Asp36AsnVAR_011948rs1801177
37LPLp.Asn70SerVAR_057914
38LPLp.Val96LeuVAR_057915
39LPLp.Ala98ThrVAR_057916
40LPLp.Thr128AlaVAR_057917
41LPLp.Gly132ArgVAR_057918
42LPLp.Gly181ValVAR_057919
43LPLp.Asp183HisVAR_057920
44LPLp.Gly186GluVAR_057921
45LPLp.Glu190GlyVAR_057922
46LPLp.Asp201ValVAR_057923
47LPLp.Val208IleVAR_057924
48LPLp.His210AspVAR_057925
49LPLp.Gly215ArgVAR_057926
50LPLp.Lys225ArgVAR_057927
51LPLp.Val227AlaVAR_057928
52LPLp.Ile252ThrVAR_057929
53LPLp.Cys266TrpVAR_057930
54LPLp.Arg270CysVAR_057931
55LPLp.Leu279ArgVAR_057932rs35414700
56LPLp.Leu279ValVAR_057933
57LPLp.Tyr289HisVAR_057934
58LPLp.Phe297LeuVAR_057935
59LPLp.Leu303PheVAR_057936
60LPLp.Cys305ArgVAR_057937
61LPLp.Cys310TyrVAR_057938
62LPLp.Leu313ProVAR_057939
63LPLp.Ser325ArgVAR_057940
64LPLp.Met328ArgVAR_057941
65LPLp.Leu330PheVAR_057942
66LPLp.Ser365PheVAR_057943
67LPLp.Cys445TyrVAR_057944
68LPLp.Glu448LysVAR_057945

Expression for genes affiliated with Lipoprotein Lipase Deficiency

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

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

Pathways for genes affiliated with Lipoprotein Lipase Deficiency

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore, 50PharmGKB
See all sources

Compounds for genes affiliated with Lipoprotein Lipase Deficiency

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience
See all sources

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

(show top 50)    (show all 145)
idCompoundScoreTop Affiliating Genes
1alpha tocopherol4510.2PLTP, LPL, LCAT
2rosiglitazone45 50 29 11 2414.1INS
3xbai459.7APOE, APOC3, LPL
4palmitate459.6CETP, INS, LCAT
5trioleoylglycerol459.4APOA1, APOC2, LPL, PNLIP
6sele459.1APOE, PON1, CETP, APOC3, LPL
7fenofibric acid45 2910.1APOA1, LPL, APOB, APOC3
8ciprofibrate45 2910.1PON1, LPL, APOB, APOA1
9cholestyramine459.0APOC3, CETP, LPA, APOB, APOE
10mspi458.9APOC3, APOB, LPA, CETP, APOA1
11acipimox45 299.8CETP, PLTP, APOB, APOA1, INS
12sodium dodecylsulfate458.7LPL, LCAT, CETP, APOC2, LPA, HP
13taurocholate458.7APOA1, APOB, LPL, PNLIP, APOC3
14polyacrylamide458.7PLA2G7, PLTP, CETP, LCAT, APOC3, APOC2
15rosuvastatin45 50 29 1111.6APOA1, CETP, INS, APOB, APOC3
16retinyl palmitate45 249.6LPL, APOE, APOB, LCAT, APOA1, PNLIP
17orlistat45 60 1110.4PNLIP, INS, APOB, LPL, PON1
18fluvastatin45 50 29 1111.4APOB, APOA1, PON1, LPL, APOE, CETP
19serine458.4HP, LCAT, APOC2, CETP, PNLIP, C3
20niacin45 119.3HP, APOB, LPA, APOA1, LPL, CETP
21vitamin b12458.3APOA1, LPA, HP, APOE, APOB, PON1
22probucol45 119.3LCAT, APOA1, APOE, APOB, HP, PLTP
23oleic acid45 29 11 2411.3CETP, C3, PNLIP, PLTP, LPL, LPA
24lovastatin45 50 60 29 1112.1APOB, APOC3, CETP, APOE, APOA1, PON1
25pravastatin45 50 29 11 2412.1CETP, PON1, APOA1, LPA, APOB, APOC3
26intralipid458.0LCAT, APOA1, APOE, APOC3, APOB, LPL
27glucose457.9APOA1, APOC3, APOC2, LPA, LPL, BTD
28aspirin45 50 29 2410.9HP, APOE, APOB, LPA, PON1, PLA2G7
29simvastatin45 50 60 29 11 2412.9APOA1, PON1, APOE, APOB, LPA, LPL
30homocysteine45 248.8PON1, HP, CETP, LPA, APOB, APOC2
31heparin45 29 11 2410.8CETP, C3, PNLIP, HP, PON1, LPL
32bezafibrate45 29 119.7LCAT, APOA1, APOE, APOC3, APOB, LPA
33atorvastatin45 50 29 11 2411.7LCAT, APOA1, APOE, APOC3, APOB, LPA
34fenofibrate45 50 119.5LPL, PON1, INS, PLA2G7, PLTP, CETP
35fibrinogen457.5APOC3, APOB, INS, PON1, PLA2G7, C3
36thyroxine45 248.4APOA1, APOE, APOB, CETP, INS, HP
37gemfibrozil45 29 119.3CETP, INS, PON1, APOA1, APOE, APOC3
38phosphatidylcholine457.2LCAT, APOA1, APOE, APOB, LPA, LPL
39cholesterol ester457.1LCAT, APOA1, APOE, APOC3, APOB, LPA
40testosterone45 60 11 2410.1LPL, APOB, PON1, INS, CETP, HP
41cysteine457.0HP, LCAT, APOC2, APOE, LPA, CETP
42creatinine457.0APOA1, C3, APOE, APOC3, PON1, APOC2
43vitamin a45 11 249.0LCAT, CETP, APOA1, APOE, APOC2, APOB
44alanine456.9LCAT, CETP, APOA1, APOE, PON1, BTD
45fatty acid456.7LCAT, BTD, INS, PLA2G7, PLTP, PNLIP
46triacylglycerol456.4APOA1, APOE, APOC3, APOC2, APOB, LPL
47estrogen456.3APOA1, HP, INS, PLA2G7, C3, CETP
48phospholipid456.3LCAT, APOA1, APOE, APOC3, APOC2, APOB
49cholesterol45 29 11 248.4LPA, LPL, PON1, HP, INS, PLA2G7
50lipid455.4LCAT, APOA1, APOE, APOC3, APOC2, INS

GO Terms for genes affiliated with Lipoprotein Lipase Deficiency

Sources:
16Gene Ontology
See all sources

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1secretory granule lumenGO:0347749.5INS, APOA1
2spherical high-density lipoprotein particleGO:0343669.4PON1, APOC2, APOC3, APOA1
3intermediate-density lipoprotein particleGO:0343639.2APOE, APOC3, APOC2, APOB
4low-density lipoprotein particleGO:0343629.1APOE, APOC2, APOB, PLA2G7
5endosome lumenGO:0319049.1INS, APOB
6chylomicronGO:0426279.0APOE, APOC3, APOC2, APOB, LPL
7endocytic vesicle lumenGO:0716828.8HP, APOB, APOE, APOA1
8very-low-density lipoprotein particleGO:0343618.7APOA1, APOE, APOC3, APOC2, APOB, LPL
9high-density lipoprotein particleGO:0343648.7LCAT, APOA1, APOE, PON1, GPIHBP1, CETP
10early endosomeGO:0057698.6APOA1, APOE, APOC3, APOC2, APOB
11extracellular spaceGO:0056156.2LCAT, APOA1, APOE, APOC3, APOC2, APOB
12extracellular regionGO:0055765.0CETP, LCAT, APOA1, APOE, APOC3, APOC2

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

(show all 46)
idNameGO IDScoreTop Affiliating Genes
1chylomicron remodelingGO:03437110.4LPL, APOC2
2negative regulation of lipid metabolic processGO:04583310.3APOC3, APOC2
3negative regulation of very-low-density lipoprotein particle clearanceGO:01091610.3APOC3, APOC2
4negative regulation of receptor-mediated endocytosisGO:04826110.3APOC3, APOC2
5negative regulation of very-low-density lipoprotein particle remodelingGO:01090310.2APOC3, APOA1
6positive regulation of lipoprotein lipase activityGO:05100610.2APOC2, GPIHBP1
7positive regulation of cholesterol storageGO:01088610.1LPL, APOB
8triglyceride mobilizationGO:00664210.0APOC3, APOB
9phosphatidylcholine metabolic processGO:04647010.0PON1, CETP
10phospholipid homeostasisGO:05509110.0APOA1, CETP
11very-low-density lipoprotein particle assemblyGO:03437910.0APOC3, APOB
12high-density lipoprotein particle assemblyGO:0343809.9APOA1, APOE
13triglyceride catabolic processGO:0194339.9LPL, APOB, APOC3
14peripheral nervous system axon regenerationGO:0140129.9APOA1, APOE
15lipoprotein transportGO:0429539.9APOC3, APOC2, APOB
16positive regulation of lipid storageGO:0108849.9C3, APOB
17positive regulation of cholesterol esterificationGO:0108739.9APOE, APOA1
18chylomicron remnant clearanceGO:0343829.9APOE, APOC3, APOC2
19lipoprotein catabolic processGO:0421599.8APOE, APOB
20positive regulation of macrophage derived foam cell differentiationGO:0107449.8LPL, APOB
21lipid transportGO:0068699.8LPA, GPIHBP1, PLTP, CETP
22high-density lipoprotein particle clearanceGO:0343849.8APOA1, APOE, APOC2
23regulation of Cdc42 protein signal transductionGO:0324899.7APOC3, APOE, APOA1
24lipid catabolic processGO:0160429.7PNLIP, PLA2G7, APOC2
25triglyceride metabolic processGO:0066419.6APOE, APOC3, LPL, CETP
26cholesterol transportGO:0303019.6LCAT, APOA1, APOB, CETP
27positive regulation of cholesterol effluxGO:0108759.5PON1, APOE
28phospholipid effluxGO:0337009.5APOA1, APOE, APOC3, APOC2
29response to drugGO:0424939.5APOA1, APOC3, APOC2, LPL
30very-low-density lipoprotein particle remodelingGO:0343729.5LCAT, APOE, APOC2, LPL, CETP
31triglyceride homeostasisGO:0703289.4APOA1, APOC3, APOC2, LPL, GPIHBP1, CETP
32low-density lipoprotein particle remodelingGO:0343749.4APOE, APOB, PLA2G7, CETP
33lipoprotein biosynthetic processGO:0421589.3LCAT, APOA1, APOE, APOB
34receptor-mediated endocytosisGO:0068989.3APOE, APOB, LPA, CETP
35negative regulation of lipid catabolic processGO:0509959.3INS, APOC3
36high-density lipoprotein particle remodelingGO:0343759.3LCAT, APOA1, APOE, APOC3, CETP
37positive regulation of nitric-oxide synthase activityGO:0510009.2APOE, INS
38cholesterol effluxGO:0333449.1APOB, APOC2, APOC3, APOE, APOA1
39reverse cholesterol transportGO:0436919.1LCAT, APOA1, APOE, APOC3, APOC2, CETP
40G-protein coupled receptor signaling pathwayGO:0071868.7APOA1, APOE, APOC3, INS, C3
41cholesterol homeostasisGO:0426328.4LCAT, APOA1, APOE, APOC3, APOC2, APOB
42cholesterol metabolic processGO:0082038.4LCAT, APOA1, APOE, APOC3, APOB, PON1
43retinoid metabolic processGO:0015238.4APOA1, APOE, APOC3, APOC2, APOB, LPL
44phototransduction, visible lightGO:0076038.4APOA1, APOE, APOC3, APOC2, APOB, LPL
45lipoprotein metabolic processGO:0421578.1CETP, LCAT, LPL, LPA, APOB, APOC2
46small molecule metabolic processGO:0442816.7LCAT, APOA1, APOE, APOC3, APOC2, APOB

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1triglyceride bindingGO:01712910.3CETP, LPL
2high-density lipoprotein particle receptor bindingGO:07065310.1APOA1, APOC3
3apolipoprotein bindingGO:03418510.0GPIHBP1, LPL, LPA
4high-density lipoprotein particle bindingGO:00803510.0GPIHBP1, APOA1
5phospholipid transporter activityGO:00554810.0APOA1, CETP
6lipase inhibitor activityGO:05510210.0APOC2, APOC3, APOA1
7lipoprotein particle bindingGO:0718139.9GPIHBP1, APOE
8cholesterol bindingGO:0154859.8APOA1, APOC3, CETP
9phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.8APOE, APOA1
10antioxidant activityGO:0162099.6HP, APOE
11lipid transporter activityGO:0053199.6APOE, CETP
12low-density lipoprotein particle receptor bindingGO:0507509.5APOB, APOE
13triglyceride lipase activityGO:0048069.5PNLIP, LPL
14lipid bindingGO:0082899.3APOE, APOC2, GPIHBP1, PLTP, CETP
15heparin bindingGO:0082019.2LPL, LPA, APOB, APOE
16cholesterol transporter activityGO:0171279.2CETP, APOB, APOE, APOA1
17phospholipid bindingGO:0055438.5APOA1, APOE, APOC3, APOB, PON1, PLA2G7

Products for genes affiliated with Lipoprotein Lipase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lipoprotein Lipase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet