MCID: LPP001
MIFTS: 61

Lipoprotein Lipase Deficiency malady

Genetic diseases (common) category

Summaries for Lipoprotein Lipase Deficiency

About this section


Wikipedia:63 Lipoprotein lipase deficiency (also known as \"familial chylomicronemia syndrome\", \"chylomicronemia\",... more...

MalaCards based summary: Lipoprotein Lipase Deficiency, also known as hyperlipoproteinemia, type i, is related to familial lipoprotein lipase deficiency and pancreatitis, and has symptoms including autosomal recessive inheritance, lipemia retinalis and jaundice. An important gene associated with Lipoprotein Lipase Deficiency is LPL (lipoprotein lipase), and among its related pathways are Vitamin digestion and absorption and amb2 Integrin signaling. The compounds fenofibric acid and ciprofibrate have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and bone, and related mouse phenotypes are adipose tissue and renal/urinary system.

Description from OMIM:45 238600

Aliases & Classifications for Lipoprotein Lipase Deficiency

About this section

Lipoprotein Lipase Deficiency, Aliases & Descriptions:

Name: Lipoprotein Lipase Deficiency 45 10
Hyperlipoproteinemia, Type I 45
Hyperlipoproteinemia Type 1 22
 
Hyperlipoproteinemia Type I 60
Lipoprotein Lipase 10


Classifications:

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


External Ids:

OMIM45 238600

Related Diseases for Lipoprotein Lipase Deficiency

About this section

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

(show top 50)    (show all 141)
idRelated DiseaseScoreTop Affiliating Genes
1familial lipoprotein lipase deficiency32.2GPIHBP1, INTS8, LPL
2pancreatitis31.3GPIHBP1, INS, LPL
3biotinidase deficiency31.0BTD
4hypertriglyceridemia30.7APOE, APOA1, APOC3, APOB, LPL
5coronary artery disease30.7APOA1, APOB, PON1, CETP, LPA, LPL
6arteriosclerosis30.1APOA1, APOB, PON1, LPL
7macular degeneration, age-related, 130.1APOB, APOE
8uremia30.1LCAT, LPL, LPA, PON1, APOC3
9rheumatoid arthritis30.1APOA1, PON1, LPA, LPL, HP, C3
10acute myocardial infarction30.0LCAT, LPA, PON1, APOB, APOA1
11lipodystrophy29.9INS, APOC3, APOB, LPL, C3
12hypobetalipoproteinemia29.9APOE, APOA1, APOB, LCAT
13coronary stenosis29.9APOA1, APOB, PON1, CETP, LPA
14hyperalphalipoproteinemia29.7LCAT, PLTP, CETP, APOB, APOC3, APOA1
15cerebrovascular disease29.7APOE, LPL, CETP, PON1, APOB, APOA1
16myocardial infarction29.7APOE, APOA1, APOC3, LCAT, PLA2G7, LPA
17hypoalphalipoproteinemia29.5LCAT, PLTP, LPL, CETP, APOB, APOC3
18kidney disease29.4APOE, APOA1, APOB, LPA, LPL, HP
19abetalipoproteinemia29.4LCAT, PLA2G7, LPL, CETP, APOB, APOA1
20hyperglycemia29.2INS, APOB, PON1, CETP, LPA, LPL
21proteinuria28.9LCAT, C3, PLA2G7, HP, LPA, CETP
22tangier disease28.7APOE, APOA1, APOC3, LCAT, PLTP, LPL
23alzheimer disease28.6INS, APOE, APOC3, APOB, PON1, CETP
24atherosclerosis27.8LCAT, C3, PLTP, PLA2G7, HP, LPL
25obesity27.8LCAT, C3, PLTP, INS, PLA2G7, LPL
26artery disease10.9
27leukemia10.7
28chronic lymphocytic leukemia10.6
29lung cancer10.5
30cerebral atherosclerosis10.4APOA1
31cerebritis10.4
32ischemia10.4
33hepatitis10.4
34endotheliitis10.4
35melanoma10.4
36chylomicron retention disease10.3APOB
37norum disease10.3APOA1, LCAT
38fish-eye disease10.3APOA1, LCAT
39lipoprotein glomerulopathy10.3APOE
40systemic lupus erythematosus10.3
41aortic atherosclerosis10.3
42arthritis10.3
43glomerulosclerosis10.3
44lupus erythematosus10.3
45monocytic leukemia10.3
46sarcoma10.3
47nephrosis10.3
48hemoglobinopathy10.3HP, BTD
49lipase deficiency, combined10.2
50ischemic heart disease10.2

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



Diseases related to lipoprotein lipase deficiency

Symptoms for Lipoprotein Lipase Deficiency

About this section

Symptoms by clinical synopsis from OMIM:

238600

Clinical features from OMIM:

238600

HPO human phenotypes related to Lipoprotein Lipase Deficiency:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 lipemia retinalis HP:0000660
3 jaundice HP:0000952
4 eruptive xanthomas HP:0001013
5 hepatosplenomegaly HP:0001433
6 abnormality of the cardiovascular system HP:0001626
7 pancreatitis HP:0001733
8 splenomegaly HP:0001744
9 vomiting HP:0002013
10 nausea HP:0002018
11 episodic abdominal pain HP:0002574
12 hyperlipidemia HP:0003077
13 hypercholesterolemia HP:0003124
14 hyperchylomicronemia HP:0012238

Drugs & Therapeutics for Lipoprotein Lipase Deficiency

About this section

Drug clinical trials:

Search ClinicalTrials for Lipoprotein Lipase Deficiency

Search NIH Clinical Center for Lipoprotein Lipase Deficiency

Genetic Tests for Lipoprotein Lipase Deficiency

About this section

Genetic tests related to Lipoprotein Lipase Deficiency:

id Genetic test Affiliating Genes
1 Hyperlipoproteinemia, Type I22

Anatomical Context for Lipoprotein Lipase Deficiency

About this section

MalaCards organs/tissues related to Lipoprotein Lipase Deficiency:

31
Heart, Endothelial, Bone, Kidney, Skin, Monocytes

Animal Models for Lipoprotein Lipase Deficiency or affiliated genes

About this section

MGI Mouse Phenotypes related to Lipoprotein Lipase Deficiency:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.2C3, LPL, APOC3, APOE, INS
2MP:00053677.6INS, APOE, HP, C3, LCAT, BTD
3MP:00053707.1INS, APOE, APOA1, APOB, LPL, HP
4MP:00053917.1INS, APOE, APOB, PLTP, C3, LCAT
5MP:00053856.5INS, APOE, APOA1, APOC3, APOB, PON1
6MP:00053765.6BTD, GPIHBP1, INS, APOE, APOA1, APOC3

Publications for Lipoprotein Lipase Deficiency

About this section

Articles related to Lipoprotein Lipase Deficiency:

(show top 50)    (show all 144)
idTitleAuthorsYear
1
Alipogene tiparvovec for the treatment of lipoprotein lipase deficiency. (23527320)
2013
2
Metabolic surgery for the treatment of hypertriglyceridemia-related pancreatitis due to familial lipoprotein lipase deficiency. (24680758)
2013
3
Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial. (22717743)
2013
4
Gestational hyperlipidemia and acute pancreatitis with underlying partial lipoprotein lipase deficiency and apolipoprotein E3/E2 genotype. (24009459)
2013
5
Alipogene tiparvovec: gene therapy for lipoprotein lipase deficiency. (23126631)
2013
6
Lipoprotein lipase deficiency in chronic kidney disease is accompanied by down-regulation of endothelial GPIHBP1 expression. (22009636)
2012
7
A sweet heart: increased cardiac glucose uptake in patients with lipoprotein lipase deficiency. (21845510)
2011
8
11-Year follow-up in biliopancreatic diversion for recurrent pancreatitis due to lipoprotein lipase deficiency. (21415674)
2011
9
Lipoprotein lipase deficiency in an infant. (22080683)
2011
10
Lipoprotein lipase deficiency with visceral xanthomas. (20143060)
2010
11
Lipoprotein lipase deficiency is associated with elevated acylation stimulating protein plasma levels. (19237736)
2009
12
Enhanced susceptibility to pancreatitis in severe hypertriglyceridaemic lipoprotein lipase-deficient mice and agonist-like function of pancreatic lipase in pancreatic cells. (18936103)
2009
13
Presynaptic defects underlying impaired learning and memory function in lipoprotein lipase-deficient mice. (19357293)
2009
14
Glucose-stimulated insulin response in non-diabetic patients with lipoprotein lipase deficiency and hypertriglyceridemia. (16256241)
2006
15
Gene therapy for lipoprotein lipase deficiency: working toward clinical application. (16259561)
2005
16
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. (15877202)
2005
17
Long-term correction of murine lipoprotein lipase deficiency with AAV1-mediated gene transfer of the naturally occurring LPL(S447X) beneficial mutation. (15353045)
2004
18
HDL metabolic activities in a boy with lipoprotein lipase deficiency and his family. (15255783)
2004
19
Potential of essential fatty acid deficiency with extremely low fat diet in lipoprotein lipase deficiency during pregnancy: A case report. (15610556)
2004
20
Severe acute necrotizing pancreatitis associated with lipoprotein lipase deficiency in childhood. (14523833)
2003
21
Lipoprotein lipase deficiency--rare or common? (12652096)
2002
22
Adipose tissue fatty acid composition in humans with lipoprotein lipase deficiency. (11352185)
2001
23
Lipoprotein lipase deficiency, familial]. (11528646)
2001
24
Familial lipoprotein lipase deficiency]. (11347061)
2001
25
Phenotypic correction of feline lipoprotein lipase deficiency by adenoviral gene transfer. (10646636)
2000
26
Lipid and apolipoprotein concentrations in prenodal leg lymph of fasted humans. Associations with plasma concentrations in normal subjects, lipoprotein lipase deficiency, and LCAT deficiency. (10946020)
2000
27
Triglyceride-induced diabetes associated with familial lipoprotein lipase deficiency. (10342813)
1999
28
Effects of heterozygous lipoprotein lipase deficiency on diet-induced atherosclerosis in mice. (9643345)
1998
29
Familial lipoprotein lipase deficiency]. (9645014)
1998
30
Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency. (8755931)
1996
31
Higher triglycerides, lower high-density lipoprotein cholesterol, and higher systolic blood pressure in lipoprotein lipase-deficient heterozygotes. A preliminary report. (8989135)
1996
32
A compound heterozygote for lipoprotein lipase deficiency, Val69-->Leu and Gly188-->Glu: correlation between in vitro LPL activity and clinical expression. (7912254)
1994
33
Lipoprotein lipase deficiency due to a 3' splice site mutation in intron 6 of the lipoprotein lipase gene. (7897314)
1994
34
Absence of triglyceride accumulation in lipoprotein lipase-deficient human monocyte-macrophages incubated with human very low density lipoprotein. (8383147)
1993
35
A missense (Asp250-->Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency. (1619366)
1992
36
Alterations in erythrocyte membrane lipid composition and fluidity in primary lipoprotein lipase deficiency. (1610917)
1992
37
High frequency of lipoprotein lipase deficiency in the Quebec population. (1422985)
1992
38
Lipoprotein lipase deficiency due to long-term heparinization presenting as severe hypertriglyceridaemia in pregnancy. (1800965)
1991
39
Occurrence of multiple aberrantly spliced mRNAs upon a donor splice site mutation that causes familial lipoprotein lipase deficiency. (1761570)
1991
40
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
41
Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene. (2349938)
1990
42
Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency. (2294743)
1990
43
Detection and characterization of the heterozygote state for lipoprotein lipase deficiency. (2719595)
1989
44
Defective enzyme protein in lipoprotein lipase deficiency. (2511019)
1989
45
Familial lipoprotein lipase deficiency: abnormal lipoproteins and defective metabolism of low density lipoproteins in cultured human skin fibroblasts. (3401291)
1988
46
Postheparin plasma lipoprotein lipase activity in heterozygotes of familial lipoprotein lipase deficiency. (3983953)
1985
47
Irradiation-induced free cholesterol accumulation in very-low-density lipoproteins. Role of lipoprotein lipase deficiency. (6743676)
1984
48
Primary type 1 hyperlipoproteinemia: significance of lipoprotein lipase and hepatic triglyceride lipase activity in heterozygotes of patients with familial lipoprotein lipase deficiency. (6827414)
1983
49
Initial diagnosis of lipoprotein lipase deficiency in a 75-year-old man. (6638056)
1983
50
Severe hypertriglyceridemia associated with pancytopenia and lipoprotein lipase deficiency. (7469215)
1981

Variations for Lipoprotein Lipase Deficiency

About this section

UniProtKB/Swiss-Prot 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

Clinvar genetic disease variations for Lipoprotein Lipase Deficiency:

6 (show all 35)
id Gene Variation Type Significance SNP ID Assembly Location
1LPLNM_000237.2(LPL): c.607G> A (p.Ala203Thr)single nucleotide variantPathogenicrs118204056GRCh37Chr 8, 19811696: 19811696
2LPLLPL, INSinsertionPathogenic
3LPLnsv513798duplicationPathogenic
4LPLNM_000237.2(LPL): c.644G> A (p.Gly215Glu)single nucleotide variantPathogenicrs118204057GRCh37Chr 8, 19811733: 19811733
5LPLLPL, 6-KB DELdeletionPathogenic
6LPLNM_000237.2(LPL): c.397C> T (p.Gln133Ter)single nucleotide variantPathogenicrs118204058GRCh37Chr 8, 19809427: 19809427
7LPLNM_000237.2(LPL): c.811T> A (p.Ser271Thr)single nucleotide variantPathogenicrs118204059GRCh37Chr 8, 19813387: 19813387
8LPLLPL, IVS2DS, G-Asingle nucleotide variantPathogenic
9LPLNM_000237.2(LPL): c.701C> T (p.Pro234Leu)single nucleotide variantPathogenicrs118204060GRCh37Chr 8, 19811790: 19811790
10LPLNM_000237.2(LPL): c.693C> G (p.Asp231Glu)single nucleotide variantPathogenicrs118204067GRCh37Chr 8, 19811782: 19811782
11LPLNM_000237.2(LPL): c.662T> C (p.Ile221Thr)single nucleotide variantPathogenicrs118204061GRCh37Chr 8, 19811751: 19811751
12LPLNM_000237.2(LPL): c.809G> A (p.Arg270His)single nucleotide variantPathogenicrs118204062GRCh37Chr 8, 19813385: 19813385
13LPLNM_000237.2(LPL): c.300C> A (p.Tyr100Ter)single nucleotide variantPathogenicrs118204074GRCh37Chr 8, 19809330: 19809330
14LPLNM_000237.2(LPL): c.506G> A (p.Gly169Glu)single nucleotide variantPathogenicrs118204063GRCh37Chr 8, 19810897: 19810897
15LPLNM_000237.2(LPL): c.548A> G (p.Asp183Gly)single nucleotide variantPathogenicrs118204064GRCh37Chr 8, 19811637: 19811637
16LPLLPL, IVS2DS, G-A, +1single nucleotide variantPathogenic
17LPLNM_000237.2(LPL): c.264T> A (p.Tyr88Ter)single nucleotide variantPathogenicrs118204065GRCh37Chr 8, 19809294: 19809294
18LPLNM_000237.2(LPL): c.1227G> A (p.Trp409Ter)single nucleotide variantPathogenicrs118204066GRCh37Chr 8, 19818499: 19818499
19LPLLPL, 1-BP DEL, 916GdeletionPathogenic
20LPLNM_000237.2(LPL): c.829G> A (p.Asp277Asn)single nucleotide variantPathogenicrs118204068GRCh37Chr 8, 19813405: 19813405
21LPLNM_000237.2(LPL): c.337T> C (p.Trp113Arg)single nucleotide variantPathogenicrs118204069GRCh37Chr 8, 19809367: 19809367
22LPLNM_000237.2(LPL): c.272G> A (p.Trp91Ter)single nucleotide variantPathogenicrs118204070GRCh37Chr 8, 19809302: 19809302
23LPLLPL, IVS1, G-C, +1single nucleotide variantPathogenic
24LPLNM_000237.2(LPL): c.1081G> A (p.Ala361Thr)single nucleotide variantPathogenicrs118204071GRCh37Chr 8, 19816833: 19816833
25LPLNM_000237.2(LPL): c.596C> G (p.Ser199Cys)single nucleotide variantPathogenicrs118204072GRCh37Chr 8, 19811685: 19811685
26LPLNM_000237.2(LPL): c.306A> C (p.Arg102Ser)single nucleotide variantPathogenicrs118204073GRCh37Chr 8, 19809336: 19809336
27LPLNM_000237.2(LPL): c.665G> A (p.Gly222Glu)single nucleotide variantPathogenicrs118204075GRCh37Chr 8, 19811754: 19811754
28LPLNM_000237.2(LPL): c.621C> G (p.Asp207Glu)single nucleotide variantPathogenicrs118204076GRCh37Chr 8, 19811710: 19811710
29LPLNM_000237.2(LPL): c.808C> T (p.Arg270Cys)single nucleotide variantPathogenicrs118204077GRCh37Chr 8, 19813384: 19813384
30LPLNM_000237.2(LPL): c.1174C> G (p.Leu392Val)single nucleotide variantPathogenicrs118204078GRCh37Chr 8, 19818446: 19818446
31LPLNM_000237.2(LPL): c.1334G> A (p.Cys445Tyr)single nucleotide variantPathogenicrs118204079GRCh37Chr 8, 19819637: 19819637
32LPLNM_000237.2(LPL): c.755T> C (p.Ile252Thr)single nucleotide variantPathogenicrs118204080GRCh37Chr 8, 19811844: 19811844
33LPLNM_000237.2(LPL): c.987C> A (p.Tyr329Ter)single nucleotide variantPathogenicrs118204081GRCh37Chr 8, 19813563: 19813563
34LPLNM_000237.2(LPL): c.798C> G (p.Cys266Trp)single nucleotide variantPathogenicrs118204082GRCh37Chr 8, 19813374: 19813374
35LPLLPL, 1-BP DEL, CODON 172deletionPathogenic

Expression for genes affiliated with Lipoprotein Lipase Deficiency

About this section
Search GEO for disease gene expression data for Lipoprotein Lipase Deficiency.

Pathways for genes affiliated with Lipoprotein Lipase Deficiency

About this section

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

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5APOA1, APOB, BTD
29.3APOB, LPA, HP
3
Show member pathways
fatty acid beta-oxidation VI (peroxisome)36
9.2APOA1, APOC3, LPL, PLTP
4
Show member pathways
thioredoxin pathway36
8.9APOB, APOA1, INS
5
Show member pathways
8.8HP, APOB, APOA1, APOE
6
Show member pathways
Vitamin B12 Metabolism36
8.7APOA1, APOE, INS
7
Show member pathways
8.6APOE, APOA1, APOC3, APOB, LPL
87.6INS, APOE, APOA1, APOC3, APOB, LPL
9
Show member pathways
7.6APOE, APOA1, APOC3, APOB, CETP, LPL
10
Show member pathways
7.5INS, APOE, APOA1, APOC3, APOB, LPL
11
Show member pathways
7.2LCAT, APOE, PLTP, LPL, LPA, CETP
12
Show member pathways
5.5INS, APOE, APOA1, APOC3, APOB, PON1

Compounds for genes affiliated with Lipoprotein Lipase Deficiency

About this section

Compounds related to Lipoprotein Lipase Deficiency according to GeneCards Suite gene sharing:

(show top 50)    (show all 138)
idCompoundScoreTop Affiliating Genes
1fenofibric acid43 2810.3APOB, LPL, APOC3, APOA1
2ciprofibrate43 2810.1APOB, PON1, LPL, APOA1
3sele439.1APOE, APOC3, PON1, CETP, LPL
4mspi438.9CETP, APOB, APOC3, LPA, APOA1
5xbai438.9CETP, APOE, APOB, LPL, APOC3
6retinyl palmitate43 249.9LPL, LCAT, APOA1, APOE, APOB
7cholestyramine438.9APOC3, LPA, CETP, APOB, APOE
8dextran sulfate438.6PLTP, LPL, CETP, APOB, APOA1
9sodium dodecylsulfate438.6LPA, APOE, LPL, HP, LCAT, CETP
10polyacrylamide438.4PLA2G7, HP, LPA, LCAT, APOC3, PLTP
11oleic acid43 28 24 1211.4CETP, APOB, C3, PLTP, PLA2G7, LPL
12acipimox43 289.4CETP, APOA1, APOB, PLTP, INS
13fluvastatin43 49 28 1211.3APOB, LPL, PLA2G7, PON1, APOA1, CETP
14vitamin b12438.2HP, APOA1, LPA, APOE, APOB, PON1
15niacin43 129.1APOA1, APOB, CETP, LPA, LPL, HP
16rosuvastatin43 49 28 1211.1APOB, APOE, CETP, INS, APOA1, APOC3
17carbohydrates438.0CETP, APOE, LPL, APOC3, HP, INS
18lovastatin43 49 59 28 1212.0APOC3, APOE, APOA1, APOB, PON1, CETP
19uric acid43 249.0INS, APOA1, APOB, PON1, LPA, HP
20probucol43 128.9APOE, APOA1, APOB, CETP, LPL, HP
21homocysteine43 248.9APOC3, HP, CETP, APOE, APOA1, APOB
22alpha tocopherol437.8APOE, APOA1, APOB, PON1, CETP, LPL
23palmitate437.8INS, LCAT, LPL, CETP, APOB, APOA1
24aspirin43 49 28 2410.8PLA2G7, APOA1, CETP, HP, LPA, APOE
25pravastatin43 49 28 24 1211.8APOB, PON1, CETP, LPA, LPL, LCAT
26intralipid437.7APOE, APOA1, APOC3, APOB, CETP, LPL
27rosiglitazone28 43 49 24 1211.7LPL, PON1, LPA, APOB, APOC3, INS
28atorvastatin43 49 28 24 1211.5CETP, LPA, LPL, PLA2G7, LCAT, PON1
29simvastatin43 49 59 28 24 1212.5APOE, APOA1, APOB, PON1, CETP, LPA
30heparin43 28 24 1210.3C3, HP, LPL, LPA, CETP, PON1
31fibrinogen437.3INS, C3, PLA2G7, APOA1, APOC3, APOB
32bezafibrate43 28 129.3INS, APOE, APOA1, APOC3, APOB, CETP
33gemfibrozil28 43 129.2INS, APOE, APOA1, APOC3, APOB, PON1
34phosphatidylcholine437.2PON1, CETP, LPA, LPL, PLA2G7, PLTP
35thyroxine43 248.1INS, APOA1, APOB, PON1, CETP, LPA
36vitamin a43 24 129.1APOA1, APOB, PON1, CETP, LPA, LPL
37fatty acid436.9INS, APOC3, APOB, CETP, LPA, LPL
38testosterone43 59 24 129.9APOE, INS, APOA1, PON1, APOB, APOC3
39creatinine436.9INS, APOE, APOA1, APOC3, APOB, PON1
40cysteine436.8LPA, PLTP, C3, LCAT, BTD, CETP
41phospholipid436.7PON1, CETP, LPL, HP, PLA2G7, PLTP
42cholesterol ester436.6LCAT, APOE, APOA1, APOC3, APOB, PON1
43triacylglycerol436.6CETP, LPL, PLA2G7, PLTP, C3, LCAT
44alanine436.5BTD, LCAT, PLTP, APOE, APOA1, APOB
45fenofibrate43 49 128.4INS, APOE, APOA1, APOC3, APOB, PON1
46glucose436.4HP, PLA2G7, APOC3, PON1, APOA1, INS
47serine436.2INS, BTD, C3, PLA2G7, HP, APOA1
48estrogen436.0APOE, INS, APOC3, LCAT, C3, PON1
49cholesterol43 28 24 128.5INS, APOE, APOA1, APOC3, APOB, PON1
50lipid435.5LCAT, C3, PLTP, APOE, APOA1, PLA2G7

GO Terms for genes affiliated with Lipoprotein Lipase Deficiency

About this section

Cellular components related to Lipoprotein Lipase Deficiency according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1spherical high-density lipoprotein particleGO:00343669.6PON1, APOC3, APOA1
2secretory granule lumenGO:00347749.3APOA1, INS
3intermediate-density lipoprotein particleGO:00343639.3APOB, APOC3, APOE
4chylomicronGO:00426279.2LPL, APOB, APOC3, APOE
5low-density lipoprotein particleGO:00343629.1APOE, APOB, PLA2G7
6endocytic vesicle lumenGO:00716829.0APOE, APOA1, APOB, HP
7endosome lumenGO:00319048.9APOB, INS
8very-low-density lipoprotein particleGO:00343618.9APOE, APOA1, APOC3, APOB, LPL
9early endosomeGO:00057698.7APOE, APOA1, APOC3, APOB
10high-density lipoprotein particleGO:00343648.6GPIHBP1, APOE, APOA1, PON1, CETP, LCAT
11blood microparticleGO:00725628.6APOE, APOA1, PON1, HP, C3
12extracellular spaceGO:00056156.2INS, APOE, APOA1, APOC3, APOB, PON1
13extracellular regionGO:00055765.1BTD, INS, APOE, APOA1, APOC3, APOB

Biological processes related to Lipoprotein Lipase Deficiency according to GeneCards Suite gene sharing:

(show all 39)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of very-low-density lipoprotein particle remodelingGO:001090310.2APOA1, APOC3
2triglyceride mobilizationGO:000664210.1APOC3, APOB
3positive regulation of cholesterol storageGO:001088610.0APOB, LPL
4phospholipid homeostasisGO:005509110.0CETP, APOA1
5phosphatidylcholine metabolic processGO:004647010.0PON1, CETP
6very-low-density lipoprotein particle assemblyGO:00343799.9APOC3, APOB
7triglyceride catabolic processGO:00194339.9APOC3, APOB, LPL
8positive regulation of lipid storageGO:00108849.9APOB, C3
9chylomicron remnant clearanceGO:00343829.9APOE, APOC3
10high-density lipoprotein particle assemblyGO:00343809.8APOE, APOA1
11peripheral nervous system axon regenerationGO:00140129.8APOE, APOA1
12positive regulation of macrophage derived foam cell differentiationGO:00107449.8LPL, APOB
13high-density lipoprotein particle clearanceGO:00343849.8APOE, APOA1
14lipoprotein transportGO:00429539.8APOB, APOC3
15positive regulation of cholesterol esterificationGO:00108739.7APOE, APOA1
16lipoprotein catabolic processGO:00421599.7APOB, APOE
17regulation of Cdc42 protein signal transductionGO:00324899.7APOE, APOA1, APOC3
18phospholipid effluxGO:00337009.7APOC3, APOA1, APOE
19triglyceride homeostasisGO:00703289.6GPIHBP1, APOA1, APOC3, CETP, LPL
20cholesterol transportGO:00303019.5LCAT, CETP, APOB, APOA1
21positive regulation of cholesterol effluxGO:00108759.5APOE, PON1
22triglyceride metabolic processGO:00066419.5LPL, CETP, APOC3, APOE
23very-low-density lipoprotein particle remodelingGO:00343729.5APOE, CETP, LPL, LCAT
24lipid transportGO:00068699.4GPIHBP1, CETP, LPA, PLTP
25negative regulation of lipid catabolic processGO:00509959.3APOC3, INS
26low-density lipoprotein particle remodelingGO:00343749.3APOE, APOB, CETP, PLA2G7
27cholesterol effluxGO:00333449.2APOE, APOA1, APOC3, APOB
28lipoprotein biosynthetic processGO:00421589.2LCAT, APOB, APOA1, APOE
29high-density lipoprotein particle remodelingGO:00343759.2APOE, APOA1, APOC3, CETP, LCAT
30reverse cholesterol transportGO:00436919.2APOE, APOA1, APOC3, CETP, LCAT
31receptor-mediated endocytosisGO:00068989.1APOE, APOB, CETP, LPA
32retinoid metabolic processGO:00015239.0APOE, APOA1, APOC3, APOB, LPL
33phototransduction, visible lightGO:00076039.0LPL, APOB, APOC3, APOA1, APOE
34positive regulation of nitric-oxide synthase activityGO:00510008.7APOE, INS
35cholesterol metabolic processGO:00082038.7APOE, APOA1, APOC3, APOB, CETP, LCAT
36cholesterol homeostasisGO:00426328.5GPIHBP1, APOE, APOA1, APOC3, APOB, CETP
37G-protein coupled receptor signaling pathwayGO:00071868.5C3, APOC3, APOA1, APOE, INS
38lipoprotein metabolic processGO:00421578.1LCAT, APOE, APOA1, APOC3, APOB, CETP
39small molecule metabolic processGO:00442817.0INS, APOE, APOA1, APOC3, APOB, CETP

Molecular functions related to Lipoprotein Lipase Deficiency according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1triglyceride bindingGO:001712910.3LPL, CETP
2high-density lipoprotein particle receptor bindingGO:007065310.2APOC3, APOA1
3lipase inhibitor activityGO:005510210.1APOA1, APOC3
4high-density lipoprotein particle bindingGO:000803510.0APOA1, GPIHBP1
5phospholipid transporter activityGO:000554810.0APOA1, CETP
6lipase bindingGO:003547310.0GPIHBP1, APOB
7cholesterol bindingGO:00154859.9APOA1, APOC3, CETP
8lipoprotein particle bindingGO:00718139.9GPIHBP1, APOE
9apolipoprotein bindingGO:00341859.8LPA, LPL
10phosphatidylcholine-sterol O-acyltransferase activator activityGO:00602289.7APOE, APOA1
11antioxidant activityGO:00162099.6HP, APOE
12low-density lipoprotein particle receptor bindingGO:00507509.4APOB, APOE
13lipid transporter activityGO:00053199.3CETP, APOE
14lipid bindingGO:00082899.1GPIHBP1, APOE, CETP, PLTP
15cholesterol transporter activityGO:00171279.1APOE, APOA1, APOB, CETP
16heparin bindingGO:00082019.1LPL, LPA, APOB, APOE
17phospholipid bindingGO:00055438.5PLA2G7, PON1, APOB, APOC3, APOA1, APOE

Products for genes affiliated with Lipoprotein Lipase Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Lipoprotein Lipase Deficiency

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet