MCID: LPP001
MIFTS: 53

Lipoprotein Lipase Deficiency malady

Metabolic diseases, Genetic diseases categories

Summaries for Lipoprotein Lipase Deficiency

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 pancreatitis. 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. Related mouse phenotypes are renal/urinary system and vision/eye.

Description from OMIM:46 238600

Aliases & Classifications for Lipoprotein Lipase Deficiency

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48Orphanet, 60UMLS, 46OMIM, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

lipoprotein lipase deficiency 46
familial lipoprotein lipase deficiency 48
hyperlipoproteinemia type i 60
lpl deficiency 48


External Ids:

SNOMED-CT via Orphanet57 238086005, 403827000, 275598004
OMIM46 238600
ICD10 via Orphanet26 E78.3

Related Diseases for Lipoprotein Lipase Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Lipoprotein Lipase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 135)
idRelated DiseaseScoreTop Affiliating Genes
1familial lipoprotein lipase deficiency31.6LPL, INTS8, GPIHBP1
2pancreatitis30.9APOC2, LPL, INS, GPIHBP1, PNLIP
3hepatitis30.4HP
4acute pancreatitis30.4PNLIP, LPL, APOC2
5familial hypertriglyceridemia30.4LPL, APOB, APOC3
6atherosclerosis30.4PON1, LPL, LPA, APOB, APOC2, APOC3
7biotinidase deficiency30.2BTD
8thrombocytopenia30.2HP
9familial hypercholesterolemia30.2CETP, APOB
10ischemic heart disease30.2APOA1, APOB, LPA, LPL, PON1, HP
11obesity30.1APOB, APOC3, APOE, APOA1, LCAT, LPA
12diabetes mellitus30.1APOA1, LCAT, APOE, APOC3, CETP, C3
13hyperlipoproteinemia type iii10.2
14pancytopenia10.2
15factor xii deficiency10.2
16neonatal diabetes mellitus10.2
17hepatitis a10.2
18kidney disease10.2
19urticaria10.2
20lipase deficiency combined10.2
21gout10.0LCAT
22alcohol abuse10.0LCAT
23steatorrhea10.0PNLIP
24thromboembolism10.0APOA1
25glycogen storage disease10.0BTD
26pneumonia10.0PLA2G7
27hepatitis b10.0APOA1
28alopecia10.0BTD
29lupus erythematosus10.0C3
30growth hormone deficiency10.0INS
31vasculitis10.0C3
32blindness10.0INS
33fatty liver disease10.0INS
34dilated cardiomyopathy10.0PLA2G7, LPL
35amyotrophic lateral sclerosis10.0PON1
36hyperthyroidism10.0INS
37nephritis10.0C3
38carotid stenosis10.0PON1
39hepatocellular carcinoma10.0INS
40dermatitis10.0BTD
41hyperandrogenism10.0INS
42cerebral atherosclerosis10.0APOA1
43cholestasis10.0CETP, LCAT
44metabolic acidosis10.0BTD
45hypoglycemia10.0
46sickle cell disease10.0HP, BTD
47endometriosis10.0HP
48colorectal cancer10.0PLA2G7, LPL
49amenorrhea10.0INS
50splenomegaly10.0HP, LCAT

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



Diseases related to lipoprotein lipase deficiency

Clinical Features for Lipoprotein Lipase Deficiency

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46OMIM
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Clinical features from OMIM:

238600

Clinical synopsis from OMIM:

238600

Drugs & Therapeutics for Lipoprotein Lipase Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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Anatomical Context for Lipoprotein Lipase Deficiency

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Animal Models for Lipoprotein Lipase Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Lipoprotein Lipase Deficiency:

36
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

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Genetic Variations for Lipoprotein Lipase Deficiency

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

62 (show all 68)
id Symbol AA change Variation ID 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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore, 49PharmGKB
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Compounds for genes affiliated with Lipoprotein Lipase Deficiency

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Sources:
44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Lipoprotein Lipase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 145)
idCompoundScoreTop Affiliating Genes
1alpha tocopherol4410.2PLTP, LPL, LCAT
2rosiglitazone44 49 28 11 2414.1INS
3xbai449.7APOE, APOC3, LPL
4palmitate449.6CETP, INS, LCAT
5trioleoylglycerol449.4APOA1, APOC2, LPL, PNLIP
6sele449.1APOE, PON1, CETP, APOC3, LPL
7fenofibric acid44 2810.1APOA1, LPL, APOB, APOC3
8ciprofibrate44 2810.1PON1, LPL, APOB, APOA1
9cholestyramine449.0APOC3, CETP, LPA, APOB, APOE
10mspi448.9APOC3, APOB, LPA, CETP, APOA1
11acipimox44 289.8CETP, PLTP, APOB, APOA1, INS
12sodium dodecylsulfate448.7LPL, LCAT, CETP, APOC2, LPA, HP
13taurocholate448.7APOA1, APOB, LPL, PNLIP, APOC3
14polyacrylamide448.7PLA2G7, PLTP, CETP, LCAT, APOC3, APOC2
15rosuvastatin44 49 28 1111.6APOA1, CETP, INS, APOB, APOC3
16retinyl palmitate44 249.6LPL, APOE, APOB, LCAT, APOA1, PNLIP
17orlistat44 59 1110.4PNLIP, INS, APOB, LPL, PON1
18fluvastatin44 49 28 1111.4APOB, APOA1, PON1, LPL, APOE, CETP
19serine448.4HP, LCAT, APOC2, CETP, PNLIP, C3
20niacin44 119.3HP, APOB, LPA, APOA1, LPL, CETP
21vitamin b12448.3APOA1, LPA, HP, APOE, APOB, PON1
22probucol44 119.3LCAT, APOA1, APOE, APOB, HP, PLTP
23oleic acid44 28 11 2411.3CETP, C3, PNLIP, PLTP, LPL, LPA
24lovastatin44 49 59 28 1112.1APOB, APOC3, CETP, APOE, APOA1, PON1
25pravastatin44 49 28 11 2412.1CETP, PON1, APOA1, LPA, APOB, APOC3
26intralipid448.0LCAT, APOA1, APOE, APOC3, APOB, LPL
27glucose447.9APOA1, APOC3, APOC2, LPA, LPL, BTD
28aspirin44 49 28 2410.9HP, APOE, APOB, LPA, PON1, PLA2G7
29simvastatin44 49 59 28 11 2412.9APOA1, PON1, APOE, APOB, LPA, LPL
30homocysteine44 248.8PON1, HP, CETP, LPA, APOB, APOC2
31heparin44 28 11 2410.8CETP, C3, PNLIP, HP, PON1, LPL
32bezafibrate44 28 119.7LCAT, APOA1, APOE, APOC3, APOB, LPA
33atorvastatin44 49 28 11 2411.7LCAT, APOA1, APOE, APOC3, APOB, LPA
34fenofibrate44 49 119.5LPL, PON1, INS, PLA2G7, PLTP, CETP
35fibrinogen447.5APOC3, APOB, INS, PON1, PLA2G7, C3
36thyroxine44 248.4APOA1, APOE, APOB, CETP, INS, HP
37gemfibrozil44 28 119.3CETP, INS, PON1, APOA1, APOE, APOC3
38phosphatidylcholine447.2LCAT, APOA1, APOE, APOB, LPA, LPL
39cholesterol ester447.1LCAT, APOA1, APOE, APOC3, APOB, LPA
40testosterone44 59 11 2410.1LPL, APOB, PON1, INS, CETP, HP
41cysteine447.0HP, LCAT, APOC2, APOE, LPA, CETP
42creatinine447.0APOA1, C3, APOE, APOC3, PON1, APOC2
43vitamin a44 11 249.0LCAT, CETP, APOA1, APOE, APOC2, APOB
44alanine446.9LCAT, CETP, APOA1, APOE, PON1, BTD
45fatty acid446.7LCAT, BTD, INS, PLA2G7, PLTP, PNLIP
46triacylglycerol446.4APOA1, APOE, APOC3, APOC2, APOB, LPL
47estrogen446.3APOA1, HP, INS, PLA2G7, C3, CETP
48phospholipid446.3LCAT, APOA1, APOE, APOC3, APOC2, APOB
49cholesterol44 28 11 248.4LPA, LPL, PON1, HP, INS, PLA2G7
50lipid445.4LCAT, APOA1, APOE, APOC3, APOC2, INS

GO Terms for genes affiliated with Lipoprotein Lipase Deficiency

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16Gene Ontology
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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

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  • Antibodies
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Sources for Lipoprotein Lipase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet