MCID: FML026
MIFTS: 44

Familial Lipoprotein Lipase Deficiency malady

Categories: Rare diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Familial Lipoprotein Lipase Deficiency

Aliases & Descriptions for Familial Lipoprotein Lipase Deficiency:

Name: Familial Lipoprotein Lipase Deficiency 12 23 50 24 25 14
Familial Lpl Deficiency 12 23 50 24 25
Familial Hyperchylomicronemia 12 50 24 25
Lipoprotein Lipase Deficiency, Familial 71 50 25
Type I Hyperlipoproteinemia 23 50 24
Hyperlipoproteinemia Type I 25 42 69
Familial Fat-Induced Hypertriglyceridemia 50 25
Endogenous Hypertriglyceridaemia 50 25
Burger-Grutz Syndrome 50 25
Lipase D Deficiency 50 25
Lipd Deficiency 50 25
Familial Lipoprotein Lipase Deficiency with Type I Phenotype 12
Familial Lipoprotein Lipase Deficiency [ambiguous] 12
Fredrickson Type I Hyperlipoproteinemia 12
Familial Hyperlipoproteinemia Type I 12
Hypercholesterinaemic Xanthomatosis 12
Idiopathic Familial Hyperlipemia 24
Exogenous Hypertriglyceridemia 24
Secondary Hypertriglyceridemia 69
Lipoprotein Lipase Deficiency 50
Hyperlipoproteinemia Type Ia 25
Fredrickson Type I Lipaemia 12
Mixed Hyperglyceridemia 12
Hyperchylomicronemia 12
Lpl Deficiency 50
Hyperlipemia 1 24
Hyperlipemia I 24

Classifications:



External Ids:

Disease Ontology 12 DOID:14118
ICD10 33 E78.3
ICD9CM 35 272.3
MeSH 42 D008072
NCIt 47 C84771
UMLS 69 C0023817

Summaries for Familial Lipoprotein Lipase Deficiency

NIH Rare Diseases : 50 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 lpl deficiency, is related to hypertriglyceridemia and hyperchylomicronemia, late-onset. 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 Cyclosporine and Miconazole 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 : 25 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 28)
id Related Disease Score Top Affiliating Genes
1 hypertriglyceridemia 29.8 LIPC LPL
2 hyperchylomicronemia, late-onset 11.9
3 lipoprotein lipase deficiency 11.5
4 myxofibrosarcoma 10.1 GPIHBP1 LPL
5 chondrocalcinosis with early-onset osteoarthritis 10.1 LPL PNLIP
6 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome 10.1 LIPC LPL
7 pancreatitis 10.0
8 cataract 5, multiple types 10.0 LIPC LPL
9 pleural disease 10.0 LIPC PNLIP
10 hyperchlorhidrosis, isolated 10.0 LIPC LPL PNLIP
11 skin squamous cell carcinoma 9.9 APOA5 LIPC LPL
12 bleeding disorder, east texas type 9.9 APOA5 LIPC LPL
13 short bowel syndrome 9.9 APOC2 PNLIP
14 lipomatosis 9.9 APOA5 LIPC LPL
15 polycystic kidney disease, infantile severe, with tuberous sclerosis 9.9 LIPC LMF1 LPL
16 macular degeneration, age-related, 12 9.9 APOA5 LIPC LPL
17 von willebrand disease, platelet-type 9.9 APOC2 LPL
18 lacrimal system cancer 9.8 APOC2 LPL PNLIP
19 thyroid gland disease 9.8 APOC2 LPL PNLIP
20 c1s deficiency 9.8 APOA5 APOC2 LPL
21 acute apical periodontitis 9.8 APOC2 LIPC LPL
22 hepatitis 9.8
23 obesity 9.8
24 narcolepsy 6 9.8 APOC2 LIPC LPL
25 autoimmune-related retinopathy and optic neuropathy 9.8 APOC2 LIPC LPL
26 von hippel-lindau syndrome 9.7 APOA5 LIPC LPL PNLIP
27 immunodeficiency 18 9.6 APOA5 APOC2 LIPC LPL
28 abducens nerve neoplasm 9.0 APOA5 APOC2 GPIHBP1 LIPC LMF1 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:

26
id 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.1 LMF1 LPL PNLIP APOA5 APOC2 LIPC

Drugs & Therapeutics for Familial Lipoprotein Lipase Deficiency

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

(show all 39)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclosporine Approved, Investigational, Vet_approved Phase 2, Phase 3 79217-60-0, 59865-13-3 5284373 6435893
2
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
3
Mycophenolate mofetil Approved, Investigational Phase 2, Phase 3 128794-94-5 5281078
4
Mycophenolic acid Approved Phase 2, Phase 3 24280-93-1 446541
5
Fosamprenavir Approved Phase 3,Phase 1,Phase 2 226700-79-4 131536
6
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
7
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
8 Anti-Bacterial Agents Phase 2, Phase 3
9 Antibiotics, Antitubercular Phase 2, Phase 3
10 Antifungal Agents Phase 2, Phase 3
11 Anti-Infective Agents Phase 2, Phase 3
12 Antirheumatic Agents Phase 2, Phase 3
13 Calcineurin Inhibitors Phase 2, Phase 3
14 Dermatologic Agents Phase 2, Phase 3
15 Immunosuppressive Agents Phase 2, Phase 3
16 Antiemetics Phase 2, Phase 3
17 Anti-Inflammatory Agents Phase 2, Phase 3
18 Antineoplastic Agents, Hormonal Phase 2, Phase 3
19 Autonomic Agents Phase 2, Phase 3
20 Gastrointestinal Agents Phase 2, Phase 3
21 glucocorticoids Phase 2, Phase 3
22 Hormone Antagonists Phase 2, Phase 3
23 Hormones Phase 2, Phase 3
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
25 Methylprednisolone acetate Phase 2, Phase 3
26 Methylprednisolone Hemisuccinate Phase 2, Phase 3
27 Neuroprotective Agents Phase 2, Phase 3
28 Peripheral Nervous System Agents Phase 2, Phase 3
29 Prednisolone acetate Phase 2, Phase 3
30 Prednisolone hemisuccinate Phase 2, Phase 3
31 Prednisolone phosphate Phase 2, Phase 3
32 Protective Agents Phase 2, Phase 3
33
Orlistat Approved, Investigational Phase 2 96829-58-2 3034010
34 Anti-Obesity Agents Phase 2
35
Heparin Approved, Investigational 9005-49-6 772 46507594
36 Anticoagulants
37 calcium heparin
38 Calcium, Dietary
39 Fibrinolytic Agents

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
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
2 The APPROACH Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Patients With Familial Chylomicronemia Syndrome Completed NCT02211209 Phase 3
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
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
5 The Approach Open Label Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Patients With Familial Chylomicronemia Syndrome Recruiting NCT02658175 Phase 3
6 Extension to a Randomized, Double-blind, Placebo Controlled Study of LCQ908 in Subjects With Familial Chylomicronemia Syndrome. Terminated NCT01589237 Phase 3
7 Pilot Study To Assess CAT-2003 in Patients With Chylomicronemia Completed NCT02098278 Phase 2
8 Safety, Tolerability,Pharmacokinetics(PK)and Pharmacodynamics(PD)Assessment of LCQ908 in Patients With Severe Hypertriglyceridemia Completed NCT01146522 Phase 1, Phase 2
9 Orlistat for the Treatment of Type I Hyperlipoproteinemia Recruiting NCT02767531 Phase 2
10 Alipogene Tiparvovec for the Treatment of LPLD Patients Recruiting NCT02904772 Phase 2
11 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
12 Lipoprotein Lipase Enzyme Activity Assay Validation and Clinical Assessment Not yet recruiting NCT02656095
13 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

Genetic tests related to Familial Lipoprotein Lipase Deficiency:

id Genetic test Affiliating Genes
1 Familial Lipoprotein Lipase Deficiency 24 LPL

Anatomical Context for Familial Lipoprotein Lipase Deficiency

MalaCards organs/tissues related to Familial Lipoprotein Lipase Deficiency:

39
Skin, Pancreas, Liver, Spleen

Publications for Familial Lipoprotein Lipase Deficiency

Articles related to Familial Lipoprotein Lipase Deficiency:

(show all 27)
id 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
[A gene analysis of familial lipoprotein lipase deficiency in China]. ( 10431049 )
1999
9
Neonatal pancreatitis associated with familial lipoprotein lipase deficiency. ( 10400113 )
1999
10
Triglyceride-induced diabetes associated with familial lipoprotein lipase deficiency. ( 10342813 )
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
Lipolysis of triglyceride-rich lipoproteins activates coagulant factor XII: a study in familial lipoprotein-lipase deficiency. ( 1418087 )
1992
17
Management of patients with severe hypertriglyceridaemia during pregnancy: report of two cases with familial lipoprotein lipase deficiency. ( 1554674 )
1992
18
Adipose cell size and distribution in familial lipoprotein lipase deficiency. ( 1330953 )
1992
19
A missense (Asp250-->Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency. ( 1619366 )
1992
20
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. ( 1752947 )
1991
21
Occurrence of multiple aberrantly spliced mRNAs upon a donor splice site mutation that causes familial lipoprotein lipase deficiency. ( 1761570 )
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)
id 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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 APOA5 APOC2 GPIHBP1 LIPC LMF1 LPL
2
Show member pathways
12.17 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
Show member pathways
11.65 LIPC LPL PNLIP
6 11.33 APOA5 LPL
7
Show member pathways
11.2 LIPC PNLIP
8
Show member pathways
11.16 LIPC LPL
9
Show member pathways
11.09 APOA5 APOC2 LIPC LPL
10 10.36 LIPC PNLIP

GO Terms for Familial Lipoprotein Lipase Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.73 APOA5 APOC2 GPIHBP1 LIPC LPL PNLIP
2 extracellular space GO:0005615 9.67 APOA5 APOC2 LIPC LPL
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 24)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.9 APOC2 LIPC LPL PNLIP
2 lipid catabolic process GO:0016042 9.81 APOC2 LIPC LPL PNLIP
3 lipid transport GO:0006869 9.75 APOA5 APOC2 GPIHBP1
4 retinoid metabolic process GO:0001523 9.73 APOC2 GPIHBP1 LPL PNLIP
5 triglyceride metabolic process GO:0006641 9.72 APOA5 LMF1 LPL
6 triglyceride catabolic process GO:0019433 9.7 APOA5 LIPC LPL
7 reverse cholesterol transport GO:0043691 9.67 APOA5 APOC2 LIPC
8 lipoprotein metabolic process GO:0042157 9.67 APOA5 APOC2 GPIHBP1 LPL
9 lipid digestion GO:0044241 9.65 LIPC LMF1 PNLIP
10 cholesterol homeostasis GO:0042632 9.65 APOA5 APOC2 GPIHBP1 LIPC LPL
11 chylomicron remodeling GO:0034371 9.63 APOC2 GPIHBP1 LPL
12 fatty acid biosynthetic process GO:0006633 9.62 LIPC LPL
13 cholesterol efflux GO:0033344 9.61 APOA5 APOC2
14 high-density lipoprotein particle remodeling GO:0034375 9.61 APOC2 LIPC
15 phospholipid efflux GO:0033700 9.59 APOA5 APOC2
16 positive regulation of fatty acid biosynthetic process GO:0045723 9.58 APOA5 APOC2
17 chylomicron remnant clearance GO:0034382 9.58 APOC2 LIPC LMF1
18 positive regulation of triglyceride catabolic process GO:0010898 9.57 APOA5 APOC2
19 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.56 APOA5 APOC2
20 positive regulation of very-low-density lipoprotein particle remodeling GO:0010902 9.54 APOA5 APOC2
21 very-low-density lipoprotein particle remodeling GO:0034372 9.5 APOC2 LIPC LPL
22 regulation of lipoprotein lipase activity GO:0051004 9.46 GPIHBP1 LIPC LMF1 LPL
23 positive regulation of lipoprotein lipase activity GO:0051006 9.26 APOA5 APOC2 GPIHBP1 LMF1
24 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:

id Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.61 APOA5 APOC2 GPIHBP1
2 heparin binding GO:0008201 9.58 APOA5 LIPC LPL
3 enzyme activator activity GO:0008047 9.46 APOA5 APOC2
4 apolipoprotein binding GO:0034185 9.37 LIPC LPL
5 phospholipase activity GO:0004620 9.32 LIPC LPL
6 lipase binding GO:0035473 9.26 APOA5 GPIHBP1
7 lipoprotein lipase activator activity GO:0060230 9.16 APOA5 APOC2
8 carboxylic ester hydrolase activity GO:0052689 9.13 LIPC LPL PNLIP
9 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
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60 QIAGEN
65 SNOMED-CT via Orphanet
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68 Tocris
69 UMLS
70 UMLS via Orphanet
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