MCID: FML026
MIFTS: 46

Familial Lipoprotein Lipase Deficiency

Categories: Rare diseases, Metabolic diseases, Genetic diseases

Aliases & Classifications for Familial Lipoprotein Lipase Deficiency

MalaCards integrated aliases for Familial Lipoprotein Lipase Deficiency:

Name: Familial Lipoprotein Lipase Deficiency 12 23 49 24 14
Familial Hyperchylomicronemia 12 72 49 24
Familial Lpl Deficiency 12 23 49 24
Lipoprotein Lipase Deficiency, Familial 72 49 24
Hyperlipoproteinemia Type I 24 41 69
Familial Fat-Induced Hypertriglyceridemia 49 24
Familial Hyperlipoproteinemia Type I 12 72
Endogenous Hypertriglyceridaemia 49 24
Burger-Grutz Syndrome 49 24
Hyperchylomicronemia 12 72
Lipase D Deficiency 49 24
Lipd Deficiency 49 24
Familial Lipoprotein Lipase Deficiency with Type I Phenotype 12
Familial Lipoprotein Lipase Deficiency [ambiguous] 12
Fredrickson Type I Hyperlipoproteinemia 12
Hypercholesterinaemic Xanthomatosis 12
Lipoprotein Lipase Deficiency 49
Hyperlipoproteinemia Type Ia 24
Fredrickson Type I Lipaemia 12
Type I Hyperlipoproteinemia 49
Mixed Hyperglyceridemia 12
Lpl Deficiency 49

Classifications:



External Ids:

Disease Ontology 12 DOID:14118
ICD10 32 E78.3
ICD9CM 34 272.3
MeSH 41 D008072
NCIt 46 C84771
UMLS 69 C0023817

Summaries for Familial Lipoprotein Lipase Deficiency

NIH Rare Diseases : 49 Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines. Last updated: 1/28/2017

MalaCards based summary : Familial Lipoprotein Lipase Deficiency, also known as familial hyperchylomicronemia, is related to pancreatitis and body mass index quantitative trait locus 11. An important gene associated with Familial Lipoprotein Lipase Deficiency is LPL (Lipoprotein Lipase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Miconazole and Mycophenolate mofetil have been mentioned in the context of this disorder. Affiliated tissues include skin, pancreas and liver, and related phenotypes are Decreased free cholesterol and homeostasis/metabolism

Genetics Home Reference : 24 Familial lipoprotein lipase deficiency is an inherited condition that disrupts the normal breakdown of fats in the body, resulting in an increase of certain kinds of fats.

GeneReviews: NBK1308

Related Diseases for Familial Lipoprotein Lipase Deficiency

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 pancreatitis 29.0 APOA5 APOC2 LPL PNLIP
2 body mass index quantitative trait locus 11 28.9 APOA5 LIPC LPL PNLIP
3 hypertriglyceridemia, familial 28.8 APOA5 APOC2 LIPC LPL
4 hyperlipoproteinemia, type i 11.6
5 recurrent acute pancreatitis 10.1 GPIHBP1 LPL
6 homozygous familial hypercholesterolemia 10.1 LIPC LPL
7 hypoalphalipoproteinemia, primary 10.1 LIPC LPL
8 hypertriglyceridemia, transient infantile 10.0
9 nodular nonsuppurative panniculitis 10.0 LIPC PNLIP
10 hyperlipidemia, familial combined 10.0 APOA5 LPL
11 hyperalphalipoproteinemia 1 9.9 LIPC LPL
12 hepatic lipase deficiency 9.9 LIPC LPL PNLIP
13 body mass index quantitative trait locus 9 9.9
14 body mass index quantitative trait locus 8 9.9
15 body mass index quantitative trait locus 4 9.9
16 body mass index quantitative trait locus 10 9.9
17 body mass index quantitative trait locus 7 9.9
18 body mass index quantitative trait locus 12 9.9
19 body mass index quantitative trait locus 14 9.9
20 body mass index quantitative trait locus 18 9.9
21 hepatitis 9.9
22 steatorrhea 9.8 APOC2 PNLIP
23 hyperlipoproteinemia, type iii 9.8 APOA5 LIPC LPL
24 coronary heart disease 1 9.8 APOA5 LIPC LPL
25 lipid metabolism disorder 9.8 APOA5 LIPC LPL
26 lipase deficiency, combined 9.7 LIPC LMF1 LPL
27 coronary artery anomaly 9.7 APOA5 LIPC LPL
28 lecithin:cholesterol acyltransferase deficiency 9.6 APOC2 LPL
29 apolipoprotein c-ii deficiency 9.6 APOC2 GPIHBP1 LPL
30 pancreatitis, hereditary 9.6 APOC2 LPL PNLIP
31 acute pancreatitis 9.6 APOC2 LPL PNLIP
32 hyperlipoproteinemia, type v 9.6 APOA5 APOC2 LPL
33 familial hyperlipidemia 9.5 APOC2 LIPC LPL
34 hypercholesterolemia, familial 9.5 APOC2 LIPC LPL
35 hyperlipoproteinemia, type iv 9.2 APOA5 APOC2 LIPC LPL
36 diabetes mellitus, noninsulin-dependent 9.1 APOC2 LIPC LPL

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



Diseases related to Familial Lipoprotein Lipase Deficiency

Symptoms & Phenotypes for Familial Lipoprotein Lipase Deficiency

GenomeRNAi Phenotypes related to Familial Lipoprotein Lipase Deficiency according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.8 APOA5 LIPC LPL

MGI Mouse Phenotypes related to Familial Lipoprotein Lipase Deficiency:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.1 APOA5 APOC2 LIPC LMF1 LPL PNLIP

Drugs & Therapeutics for Familial Lipoprotein Lipase Deficiency

Drugs for Familial Lipoprotein Lipase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
2
Mycophenolate mofetil Approved, Investigational Phase 2, Phase 3 128794-94-5 5281078
3
Mycophenolic acid Approved Phase 2, Phase 3 24280-93-1 446541
4
Fosamprenavir Approved Phase 3,Phase 1,Phase 2 226700-79-4 131536
5
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
6
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
7 Anti-Bacterial Agents Phase 2, Phase 3
8 Antibiotics, Antitubercular Phase 2, Phase 3
9 Antifungal Agents Phase 2, Phase 3
10 Anti-Infective Agents Phase 2, Phase 3
11 Antirheumatic Agents Phase 2, Phase 3
12 Antitubercular Agents Phase 2, Phase 3
13 Calcineurin Inhibitors Phase 2, Phase 3
14 Cyclosporins Phase 2, Phase 3
15 Dermatologic Agents Phase 2, Phase 3
16 Immunosuppressive Agents Phase 2, Phase 3
17 Antiemetics Phase 2, Phase 3
18 Anti-Inflammatory Agents Phase 2, Phase 3
19 Antineoplastic Agents, Hormonal Phase 2, Phase 3
20 Autonomic Agents Phase 2, Phase 3
21 Gastrointestinal Agents Phase 2, Phase 3
22 glucocorticoids Phase 2, Phase 3
23 Hormone Antagonists Phase 2, Phase 3
24 Hormones Phase 2, Phase 3
25 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
26 Methylprednisolone acetate Phase 2, Phase 3
27 Methylprednisolone Hemisuccinate Phase 2, Phase 3
28 Neuroprotective Agents Phase 2, Phase 3
29 Peripheral Nervous System Agents Phase 2, Phase 3
30 Prednisolone acetate Phase 2, Phase 3
31 Prednisolone hemisuccinate Phase 2, Phase 3
32 Prednisolone phosphate Phase 2, Phase 3
33 Protective Agents Phase 2, Phase 3
34
Orlistat Approved, Investigational Phase 2 96829-58-2 3034010
35 Anti-Obesity Agents Phase 2
36
Heparin Approved, Investigational 9005-49-6 46507594 772
37 Anticoagulants
38 calcium heparin
39 Calcium, Dietary
40 Fibrinolytic Agents

Interventional clinical trials:

(show all 16)

# Name Status NCT ID Phase Drugs
1 Safety and Efficacy in LPL-Deficient Subjects of AMT-011, an Adeno-Associated Viral Vector Expressing Human Lipoprotein Lipase [S447X] Unknown status NCT01109498 Phase 2, Phase 3 Mycophenolate mofetil;cyclosporine
2 The APPROACH Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Patients With Familial Chylomicronemia Syndrome Completed NCT02211209 Phase 3 volanesorsen;Placebo
3 A Randomized, Double-blind, Placebo Controlled Study to Assess Efficacy, Safety and Tolerability of LCQ908 in Subjects With Familial Chylomicronemia Syndrome Completed NCT01514461 Phase 3 LCQ908;Placebo
4 Efficacy and Safety of Human Lipoprotein Lipase (LPL)[S447X] Expressed by an Adeno-Associated Viral Vector in LPL-deficient Subjects Completed NCT00891306 Phase 2, Phase 3 mycophenolate mofetil;cyclosporine;methylprednisolone
5 The Approach Open Label Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Patients With Familial Chylomicronemia Syndrome Active, not recruiting NCT02658175 Phase 3 Volanesorsen
6 Extension to a Randomized, Double-blind, Placebo Controlled Study of LCQ908 in Subjects With Familial Chylomicronemia Syndrome. Terminated NCT01589237 Phase 3 LCQ908
7 Pilot Study To Assess CAT-2003 in Patients With Chylomicronemia Completed NCT02098278 Phase 2 CAT-2003;Placebo
8 Safety, Tolerability,Pharmacokinetics(PK)and Pharmacodynamics(PD)Assessment of LCQ908 in Patients With Severe Hypertriglyceridemia Completed NCT01146522 Phase 1, Phase 2 LCQ908;Placebo
9 Phase 2 Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With Familial Chylomicronemia Syndrome (FCS) Recruiting NCT03360747 Phase 2 AKCEA-ANGPTL3-LRX
10 Orlistat for the Treatment of Type I Hyperlipoproteinemia Recruiting NCT02767531 Phase 2 Orlistat
11 Alipogene Tiparvovec for the Treatment of LPLD Patients Withdrawn NCT02904772 Phase 2 alipogene tiparvovec;Prednisolone;Cyclosporins;Mycophenolate mofetil
12 Study to Re-assess and Re-confirm Data Previously Recorded About the Incidence and Severity of Acute Abdominal "Pancreatitis" Episodes in Lipoprotein Lipase Deficient (LPLD) Subjects Previously Enrolled on AMT Clinical Studies Unknown status NCT01448577
13 Biomarker for Homozygous Familial Hypercholesterolemia Recruiting NCT03198897
14 Lipoprotein Lipase Enzyme Activity Assay Validation and Clinical Assessment Active, not recruiting NCT02656095 Heparin
15 Glybera Registry, Lipoprotein Lipase Deficient (LPLD) Patients Active, not recruiting NCT03293810
16 Duration of Effect of Alipogene Tiparvovec Treatment, Which Was Administered in Other Studies Terminated NCT01447901

Search NIH Clinical Center for Familial Lipoprotein Lipase Deficiency

Cochrane evidence based reviews: hyperlipoproteinemia type i

Genetic Tests for Familial Lipoprotein Lipase Deficiency

Anatomical Context for Familial Lipoprotein Lipase Deficiency

MalaCards organs/tissues related to Familial Lipoprotein Lipase Deficiency:

38
Skin, Pancreas, Liver, Spleen

Publications for Familial Lipoprotein Lipase Deficiency

Articles related to Familial Lipoprotein Lipase Deficiency:

(show all 27)
# Title Authors Year
1
Alipogene tiparvovec: a review of its use in adults with familial lipoprotein lipase deficiency. ( 25559420 )
2015
2
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
3
Metabolic surgery for the treatment of hypertriglyceridemia-related pancreatitis due to familial lipoprotein lipase deficiency. ( 24680758 )
2013
4
Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations. ( 18275685 )
2008
5
[Familial lipoprotein lipase deficiency]. ( 17824045 )
2007
6
Deceptive hyperbilirubinaemia in a newborn with familial lipoprotein lipase deficiency. ( 11468054 )
2001
7
[Familial lipoprotein lipase deficiency]. ( 11347061 )
2001
8
Triglyceride-induced diabetes associated with familial lipoprotein lipase deficiency. ( 10342813 )
1999
9
[A gene analysis of familial lipoprotein lipase deficiency in China]. ( 10431049 )
1999
10
Neonatal pancreatitis associated with familial lipoprotein lipase deficiency. ( 10400113 )
1999
11
Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy. ( 10199753 )
1999
12
Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study. ( 9738727 )
1998
13
[Familial lipoprotein lipase deficiency]. ( 9645014 )
1998
14
Hyperinsulinemia and abdominal obesity affect the expression of hypertriglyceridemia in heterozygous familial lipoprotein lipase deficiency. ( 9392497 )
1997
15
Familial Lipoprotein Lipase Deficiency ( 20301485 )
1993
16
A missense (Asp250-->Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency. ( 1619366 )
1992
17
Lipolysis of triglyceride-rich lipoproteins activates coagulant factor XII: a study in familial lipoprotein-lipase deficiency. ( 1418087 )
1992
18
Adipose cell size and distribution in familial lipoprotein lipase deficiency. ( 1330953 )
1992
19
Management of patients with severe hypertriglyceridaemia during pregnancy: report of two cases with familial lipoprotein lipase deficiency. ( 1554674 )
1992
20
Occurrence of multiple aberrantly spliced mRNAs upon a donor splice site mutation that causes familial lipoprotein lipase deficiency. ( 1761570 )
1991
21
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. ( 1752947 )
1991
22
Catalytic triad residue mutation (Asp156-->Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447-->Ter) in a Turkish family. ( 1907278 )
1991
23
Gene polymorphism identified by PvuII in familial lipoprotein lipase deficiency. ( 2574035 )
1989
24
Familial lipoprotein lipase deficiency: abnormal lipoproteins and defective metabolism of low density lipoproteins in cultured human skin fibroblasts. ( 3401291 )
1988
25
An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia. ( 3630977 )
1987
26
Postheparin plasma lipoprotein lipase activity in heterozygotes of familial lipoprotein lipase deficiency. ( 3983953 )
1985
27
Primary type 1 hyperlipoproteinemia: significance of lipoprotein lipase and hepatic triglyceride lipase activity in heterozygotes of patients with familial lipoprotein lipase deficiency. ( 6827414 )
1983

Variations for Familial Lipoprotein Lipase Deficiency

ClinVar genetic disease variations for Familial Lipoprotein Lipase Deficiency:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 LPL NM_000237.2(LPL): c.607G> A (p.Ala203Thr) single nucleotide variant Pathogenic rs118204056 GRCh37 Chromosome 8, 19811696: 19811696
2 LPL LPL, INS insertion Pathogenic
3 LPL nsv513798 duplication Pathogenic
4 LPL NM_000237.2(LPL): c.644G> A (p.Gly215Glu) single nucleotide variant Pathogenic rs118204057 GRCh37 Chromosome 8, 19811733: 19811733
5 LPL LPL, 6-KB DEL deletion Pathogenic
6 LPL NM_000237.2(LPL): c.397C> T (p.Gln133Ter) single nucleotide variant Pathogenic rs118204058 GRCh37 Chromosome 8, 19809427: 19809427
7 LPL NM_000237.2(LPL): c.811T> A (p.Ser271Thr) single nucleotide variant Pathogenic rs118204059 GRCh37 Chromosome 8, 19813387: 19813387
8 LPL LPL, IVS2DS, G-A single nucleotide variant Pathogenic
9 LPL NM_000237.2(LPL): c.701C> T (p.Pro234Leu) single nucleotide variant Pathogenic rs118204060 GRCh37 Chromosome 8, 19811790: 19811790
10 LPL NM_000237.2(LPL): c.693C> G (p.Asp231Glu) single nucleotide variant Pathogenic rs118204067 GRCh37 Chromosome 8, 19811782: 19811782
11 LPL NM_000237.2(LPL): c.662T> C (p.Ile221Thr) single nucleotide variant Pathogenic rs118204061 GRCh37 Chromosome 8, 19811751: 19811751
12 LPL NM_000237.2(LPL): c.809G> A (p.Arg270His) single nucleotide variant Pathogenic rs118204062 GRCh37 Chromosome 8, 19813385: 19813385
13 LPL NM_000237.2(LPL): c.300C> A (p.Tyr100Ter) single nucleotide variant Pathogenic rs118204074 GRCh37 Chromosome 8, 19809330: 19809330
14 LPL NM_000237.2(LPL): c.506G> A (p.Gly169Glu) single nucleotide variant Pathogenic rs118204063 GRCh37 Chromosome 8, 19810897: 19810897
15 LPL NM_000237.2(LPL): c.548A> G (p.Asp183Gly) single nucleotide variant Pathogenic rs118204064 GRCh37 Chromosome 8, 19811637: 19811637
16 LPL LPL, IVS2DS, G-A, +1 single nucleotide variant Pathogenic
17 LPL NM_000237.2(LPL): c.264T> A (p.Tyr88Ter) single nucleotide variant Pathogenic rs118204065 GRCh37 Chromosome 8, 19809294: 19809294
18 LPL NM_000237.2(LPL): c.1227G> A (p.Trp409Ter) single nucleotide variant Pathogenic rs118204066 GRCh37 Chromosome 8, 19818499: 19818499
19 LPL LPL, 1-BP DEL, 916G deletion Pathogenic
20 LPL NM_000237.2(LPL): c.829G> A (p.Asp277Asn) single nucleotide variant Pathogenic rs118204068 GRCh37 Chromosome 8, 19813405: 19813405
21 LPL NM_000237.2(LPL): c.337T> C (p.Trp113Arg) single nucleotide variant Pathogenic rs118204069 GRCh37 Chromosome 8, 19809367: 19809367
22 LPL NM_000237.2(LPL): c.272G> A (p.Trp91Ter) single nucleotide variant Pathogenic rs118204070 GRCh37 Chromosome 8, 19809302: 19809302
23 LPL LPL, IVS1, G-C, +1 single nucleotide variant Pathogenic
24 LPL NM_000237.2(LPL): c.1081G> A (p.Ala361Thr) single nucleotide variant Pathogenic rs118204071 GRCh37 Chromosome 8, 19816833: 19816833
25 LPL NM_000237.2(LPL): c.596C> G (p.Ser199Cys) single nucleotide variant Pathogenic rs118204072 GRCh37 Chromosome 8, 19811685: 19811685
26 LPL NM_000237.2(LPL): c.306A> C (p.Arg102Ser) single nucleotide variant Pathogenic rs118204073 GRCh37 Chromosome 8, 19809336: 19809336
27 LPL NM_000237.2(LPL): c.665G> A (p.Gly222Glu) single nucleotide variant Pathogenic rs118204075 GRCh37 Chromosome 8, 19811754: 19811754
28 LPL NM_000237.2(LPL): c.621C> G (p.Asp207Glu) single nucleotide variant Pathogenic rs118204076 GRCh37 Chromosome 8, 19811710: 19811710
29 LPL NM_000237.2(LPL): c.808C> T (p.Arg270Cys) single nucleotide variant Pathogenic rs118204077 GRCh37 Chromosome 8, 19813384: 19813384
30 LPL NM_000237.2(LPL): c.1174C> G (p.Leu392Val) single nucleotide variant Pathogenic rs118204078 GRCh37 Chromosome 8, 19818446: 19818446
31 LPL NM_000237.2(LPL): c.106G> A (p.Asp36Asn) single nucleotide variant risk factor rs1801177 GRCh37 Chromosome 8, 19805708: 19805708
32 LPL NM_000237.2(LPL): c.1334G> A (p.Cys445Tyr) single nucleotide variant Pathogenic rs118204079 GRCh37 Chromosome 8, 19819637: 19819637
33 LPL NM_000237.2(LPL): c.755T> C (p.Ile252Thr) single nucleotide variant Pathogenic rs118204080 GRCh37 Chromosome 8, 19811844: 19811844
34 LPL NM_000237.2(LPL): c.987C> A (p.Tyr329Ter) single nucleotide variant Pathogenic rs118204081 GRCh37 Chromosome 8, 19813563: 19813563
35 LPL NM_000237.2(LPL): c.798C> G (p.Cys266Trp) single nucleotide variant Pathogenic rs118204082 GRCh37 Chromosome 8, 19813374: 19813374
36 LPL LPL, 1-BP DEL, CODON 172 deletion Pathogenic

Expression for Familial Lipoprotein Lipase Deficiency

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

Pathways for Familial Lipoprotein Lipase Deficiency

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 APOA5 APOC2 GPIHBP1 LIPC LMF1 LPL
2
Show member pathways
12.23 APOC2 GPIHBP1 LPL PNLIP
3
Show member pathways
11.79 APOC2 GPIHBP1 LPL PNLIP
4
Show member pathways
11.7 APOA5 APOC2 GPIHBP1 LIPC LMF1 LPL
5 11.35 APOA5 LPL
6
Show member pathways
11.33 APOA5 APOC2 LIPC LPL
7
Show member pathways
11.32 LIPC LPL
8 11.22 LIPC LPL PNLIP
9
Show member pathways
11.2 LIPC PNLIP
10
Show member pathways
11.16 LIPC LPL
11 10.41 LIPC PNLIP

GO Terms for Familial Lipoprotein Lipase Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.77 APOA5 APOC2 LIPC LPL PNLIP
2 extracellular region GO:0005576 9.73 APOA5 APOC2 GPIHBP1 LIPC LPL PNLIP
3 very-low-density lipoprotein particle GO:0034361 9.33 APOA5 APOC2 LPL
4 low-density lipoprotein particle GO:0034362 9.32 APOA5 APOC2
5 chylomicron GO:0042627 9.13 APOA5 APOC2 LPL
6 high-density lipoprotein particle GO:0034364 8.92 APOA5 APOC2 GPIHBP1 LIPC

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.88 APOC2 LIPC LPL PNLIP
2 lipid catabolic process GO:0016042 9.78 APOC2 LIPC LPL PNLIP
3 retinoid metabolic process GO:0001523 9.71 APOC2 GPIHBP1 LPL PNLIP
4 triglyceride metabolic process GO:0006641 9.7 APOA5 LMF1 LPL
5 triglyceride catabolic process GO:0019433 9.67 APOA5 LIPC LPL
6 cholesterol homeostasis GO:0042632 9.65 APOA5 APOC2 GPIHBP1 LIPC LPL
7 reverse cholesterol transport GO:0043691 9.63 APOA5 APOC2 LIPC
8 chylomicron remodeling GO:0034371 9.61 APOC2 GPIHBP1 LPL
9 fatty acid biosynthetic process GO:0006633 9.6 LIPC LPL
10 cholesterol efflux GO:0033344 9.59 APOA5 APOC2
11 high-density lipoprotein particle remodeling GO:0034375 9.58 APOC2 LIPC
12 phospholipid efflux GO:0033700 9.57 APOA5 APOC2
13 positive regulation of fatty acid biosynthetic process GO:0045723 9.56 APOA5 APOC2
14 positive regulation of triglyceride catabolic process GO:0010898 9.55 APOA5 APOC2
15 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.54 APOA5 APOC2
16 chylomicron remnant clearance GO:0034382 9.54 APOC2 LIPC LMF1
17 positive regulation of very-low-density lipoprotein particle remodeling GO:0010902 9.51 APOA5 APOC2
18 very-low-density lipoprotein particle remodeling GO:0034372 9.5 APOC2 LIPC LPL
19 positive regulation of lipoprotein lipase activity GO:0051006 9.46 APOA5 APOC2 GPIHBP1 LMF1
20 regulation of lipoprotein lipase activity GO:0051004 9.26 GPIHBP1 LIPC LMF1 LPL
21 triglyceride homeostasis GO:0070328 9.02 APOA5 APOC2 GPIHBP1 LIPC LPL

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

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.63 APOA5 APOC2 GPIHBP1
2 heparin binding GO:0008201 9.61 APOA5 LIPC LPL
3 enzyme activator activity GO:0008047 9.48 APOA5 APOC2
4 apolipoprotein binding GO:0034185 9.4 LIPC LPL
5 phospholipase activity GO:0004620 9.37 LIPC LPL
6 lipase activity GO:0016298 9.32 LIPC PNLIP
7 lipase binding GO:0035473 9.26 APOA5 GPIHBP1
8 lipoprotein lipase activator activity GO:0060230 9.16 APOA5 APOC2
9 carboxylic ester hydrolase activity GO:0052689 9.13 LIPC LPL PNLIP
10 triglyceride lipase activity GO:0004806 8.8 LIPC LPL PNLIP

Sources for Familial Lipoprotein Lipase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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