MCID: FML026
MIFTS: 53

Familial Lipoprotein Lipase Deficiency

Categories: Blood diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Familial Lipoprotein Lipase Deficiency

MalaCards integrated aliases for Familial Lipoprotein Lipase Deficiency:

Name: Familial Lipoprotein Lipase Deficiency 12 24 53 25 15
Familial Lpl Deficiency 12 24 53 25
Hyperlipoproteinemia Type I 25 44 73
Familial Fat-Induced Hypertriglyceridemia 53 25
Lipoprotein Lipase Deficiency, Familial 53 25
Familial Hyperlipoproteinemia Type I 12 76
Familial Chylomicronemia Syndrome 12 29
Endogenous Hypertriglyceridaemia 53 25
Familial Hyperchylomicronemia 53 25
Burger-Grutz Syndrome 53 25
Hyperchylomicronemia 12 76
Lipase D Deficiency 53 25
Lipd Deficiency 53 25
Fredrickson Type I Hyperlipoproteinemia 12
Hypercholesterinaemic Xanthomatosis 12
Lipoprotein Lipase Deficiency 53
Hyperlipoproteinemia Type Ia 25
Fredrickson Type I Lipaemia 12
Type I Hyperlipoproteinemia 53
Mixed Hyperglyceridemia 12
Lpl Deficiency 53

Classifications:



Summaries for Familial Lipoprotein Lipase Deficiency

NIH Rare Diseases : 53 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.

MalaCards based summary : Familial Lipoprotein Lipase Deficiency, also known as familial lpl deficiency, is related to lipase deficiency, combined and hyperlipoproteinemia, type v. 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 Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and spleen, and related phenotypes are depressivity and diabetes mellitus

Disease Ontology : 12 A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.

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.

Wikipedia : 76 Hyperlipidemia is abnormally elevated levels of any or all lipids or lipoproteins in the blood. It is... more...

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 43)
# Related Disease Score Top Affiliating Genes
1 lipase deficiency, combined 32.1 LPL LMF1 LIPC
2 hyperlipoproteinemia, type v 31.9 LPL APOC2 APOA5
3 pancreatitis 29.9 PNLIP LPL APOC2 APOA5
4 acute pancreatitis 29.7 PNLIP LPL APOC2
5 apolipoprotein c-ii deficiency 29.7 LPL GPIHBP1 APOC2
6 lipid metabolism disorder 29.3 LPL LIPC APOC3 APOA5
7 hypertriglyceridemia, familial 29.0 APOA5 APOC2 APOC3 LPL LIPC
8 hyperlipoproteinemia, type i 11.7
9 recurrent acute pancreatitis 10.1 LPL GPIHBP1
10 glycogen storage disease ia 10.0 LPL APOC2
11 atherosclerosis susceptibility 10.0
12 hypertriglyceridemia, transient infantile 10.0
13 encephalopathy 10.0
14 nodular nonsuppurative panniculitis 10.0 PNLIP LIPC
15 hepatic lipase deficiency 10.0 PNLIP LPL LIPC
16 steatorrhea 9.9 PNLIP APOC2
17 biotinidase deficiency 9.9
18 chronic kidney failure 9.9
19 diabetes mellitus 9.9
20 ischemic heart disease 9.9
21 thrombocytopenia 9.9
22 heart disease 9.9
23 pancytopenia 9.9
24 urticaria 9.9
25 kidney disease 9.9
26 frontal fibrosing alopecia 9.9
27 hypoglycemia 9.9
28 hypobetalipoproteinemia, familial, 2 9.9 LPL APOC3
29 hyperlipoproteinemia, type iii 9.9 LPL LIPC APOA5
30 bardet-biedl syndrome 2 9.8 LPL APOC3
31 hypoalphalipoproteinemia, primary 9.8 LPL LIPC APOC3
32 hyperalphalipoproteinemia 1 9.8 LPL LIPC APOC3
33 uremia 9.7 LPL APOC3
34 lecithin:cholesterol acyltransferase deficiency 9.7 LPL APOC3 APOC2
35 maturity-onset diabetes of the young 9.7 LPL APOC3 APOC2
36 hyperlipidemia, combined, 1 9.6 LPL LIPC APOC3 APOA5
37 coronary heart disease 1 9.6 LPL LIPC APOC3 APOA5
38 hyperlipidemia, familial combined 9.6 LPL APOC3 APOC2 APOA5
39 hyperlipoproteinemia, type iv 9.6 LPL APOC3 APOC2 APOA5
40 familial hyperlipidemia 9.6 LPL LIPC APOC3 APOC2
41 hypercholesterolemia, familial 9.5 LPL LIPC APOC3 APOC2
42 diabetes mellitus, noninsulin-dependent 9.5 LPL LIPC APOC3 APOC2
43 body mass index quantitative trait locus 11 9.4 PNLIP LPL LIPC APOC3 APOA5

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

Human phenotypes related to Familial Lipoprotein Lipase Deficiency:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 depressivity 32 very rare (1%) HP:0000716
2 diabetes mellitus 32 very rare (1%) HP:0000819
3 failure to thrive 32 occasional (7.5%) HP:0001508
4 nausea and vomiting 32 occasional (7.5%) HP:0002017
5 hypertriglyceridemia 32 obligate (100%) HP:0002155
6 pulmonary embolism 32 very rare (1%) HP:0002204
7 hepatic steatosis 32 frequent (33%) HP:0001397
8 jaundice 32 very rare (1%) HP:0000952
9 memory impairment 32 very rare (1%) HP:0002354
10 dementia 32 very rare (1%) HP:0000726
11 episodic abdominal pain 32 hallmark (90%) HP:0002574
12 abnormal emotion/affect behavior 32 very rare (1%) HP:0100851
13 hepatosplenomegaly 32 hallmark (90%) HP:0001433
14 recurrent pancreatitis 32 hallmark (90%) HP:0100027
15 eruptive xanthomas 32 frequent (33%) HP:0001013
16 acute pancreatitis 32 hallmark (90%) HP:0001735
17 lipemia retinalis 32 hallmark (90%) HP:0000660
18 perianal abscess 32 very rare (1%) HP:0009789
19 increased circulating chylomicron concentration 32 obligate (100%) HP:0012238

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.92 APOA5 APOC3 LIPC LPL

Drugs & Therapeutics for Familial Lipoprotein Lipase Deficiency

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

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 3 22916-47-8 4189
2
Mycophenolic acid Approved Phase 2, Phase 3,Phase 3 24280-93-1 446541
3
Fosamprenavir Approved Phase 3,Phase 1,Phase 2 226700-79-4 131536
4
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
6
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
7
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
8
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
9 Anti-Infective Agents Phase 2, Phase 3,Phase 3
10 Calcineurin Inhibitors Phase 2, Phase 3,Phase 3
11 Cyclosporins Phase 2, Phase 3,Phase 3
12 Antifungal Agents Phase 2, Phase 3,Phase 3
13 Dermatologic Agents Phase 2, Phase 3,Phase 3
14 Immunologic Factors Phase 2, Phase 3,Phase 3
15 Antirheumatic Agents Phase 2, Phase 3,Phase 3
16 Anti-Bacterial Agents Phase 2, Phase 3,Phase 3
17 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 3
18 Antitubercular Agents Phase 2, Phase 3,Phase 3
19 Immunosuppressive Agents Phase 2, Phase 3,Phase 3
20 Peripheral Nervous System Agents Phase 2, Phase 3
21 Hormones Phase 2, Phase 3
22 Methylprednisolone acetate Phase 2, Phase 3
23 Antineoplastic Agents, Hormonal Phase 2, Phase 3
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
25 Anti-Inflammatory Agents Phase 2, Phase 3
26 Hormone Antagonists Phase 2, Phase 3
27 Autonomic Agents Phase 2, Phase 3
28 Prednisolone acetate Phase 2, Phase 3
29 Neuroprotective Agents Phase 2, Phase 3
30 Antiemetics Phase 2, Phase 3
31 Gastrointestinal Agents Phase 2, Phase 3
32 glucocorticoids 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 Liver Extracts Phase 2
37 Calcium, Dietary Phase 2
38
Heparin Approved, Investigational 9005-49-6 772 46507594
39 Fibrinolytic Agents
40 Anticoagulants
41 calcium heparin

Interventional clinical trials:

(show all 19)
# 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 Orlistat for the Treatment of Type I Hyperlipoproteinemia Recruiting NCT02767531 Phase 2 Orlistat
10 Phase 2 Study of AKCEA-ANGPTL3-LRX (ISIS 703802) in Patients With Familial Chylomicronemia Syndrome (FCS) Active, not recruiting NCT03360747 Phase 2 AKCEA-ANGPTL3-LRX
11 Gemcabene for the Treatment of Pediatric NAFLD Active, not recruiting NCT03436420 Phase 2 Gemcabene
12 Alipogene Tiparvovec for the Treatment of LPLD Patients Withdrawn NCT02904772 Phase 2 alipogene tiparvovec;Prednisolone;Cyclosporins;Mycophenolate mofetil
13 Study of ARO-APOC3 in Healthy Volunteers, Hypertriglyceridemic Patients and Patients With Familial Chylomicronemia Syndrome (FCS) Not yet recruiting NCT03783377 Phase 1 ARO-APOC3;sterile normal saline (0.9% NaCl)
14 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
15 Biomarker for Homozygous Familial Hypercholesterolemia Recruiting NCT03198897
16 Lipoprotein Lipase Enzyme Activity Assay Validation and Clinical Assessment Active, not recruiting NCT02656095 Heparin
17 Glybera Registry, Lipoprotein Lipase Deficient (LPLD) Patients Active, not recruiting NCT03293810
18 Volanesorsen Early Access Program for Patients With Familial Chylomicronemia Syndrome (FCS) Available NCT03544060 Volanesorsen
19 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:

# Genetic test Affiliating Genes
1 Familial Chylomicronemia Syndrome 29

Anatomical Context for Familial Lipoprotein Lipase Deficiency

MalaCards organs/tissues related to Familial Lipoprotein Lipase Deficiency:

41
Liver, Skin, Spleen, Pancreas, Kidney, Heart

Publications for Familial Lipoprotein Lipase Deficiency

Articles related to Familial Lipoprotein Lipase Deficiency:

(show all 29)
# 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
Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy. ( 10199753 )
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
[A gene analysis of familial lipoprotein lipase deficiency in China]. ( 10431049 )
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
Adipose cell size and distribution in familial lipoprotein lipase deficiency. ( 1330953 )
1992
18
A missense (Asp250-->Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency. ( 1619366 )
1992
19
Management of patients with severe hypertriglyceridaemia during pregnancy: report of two cases with familial lipoprotein lipase deficiency. ( 1554674 )
1992
20
A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency. ( 1562620 )
1992
21
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
22
Occurrence of multiple aberrantly spliced mRNAs upon a donor splice site mutation that causes familial lipoprotein lipase deficiency. ( 1761570 )
1991
23
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. ( 1752947 )
1991
24
Gene polymorphism identified by PvuII in familial lipoprotein lipase deficiency. ( 2574035 )
1989
25
Detection of familial LPL deficiency by PvuII RFLP. ( 2566974 )
1989
26
Familial lipoprotein lipase deficiency: abnormal lipoproteins and defective metabolism of low density lipoproteins in cultured human skin fibroblasts. ( 3401291 )
1988
27
An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia. ( 3630977 )
1987
28
Postheparin plasma lipoprotein lipase activity in heterozygotes of familial lipoprotein lipase deficiency. ( 3983953 )
1985
29
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

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 APOA5 APOC2 APOC3 GPIHBP1 LIPC LMF1
2
Show member pathways
12.26 APOC2 APOC3 GPIHBP1 LPL PNLIP
3
Show member pathways
11.88 APOC2 APOC3 GPIHBP1 LPL PNLIP
4
Show member pathways
11.76 APOA5 APOC2 APOC3 GPIHBP1 LIPC LMF1
5 11.45 APOA5 APOC3 LPL
6
Show member pathways
11.43 APOA5 APOC2 APOC3 LIPC LPL
7
Show member pathways
11.36 LIPC LPL
8 11.33 LIPC LPL PNLIP
9
Show member pathways
11.24 LIPC PNLIP
10
Show member pathways
11.2 LIPC LPL
11 10.87 APOA5 APOC3
12 10.47 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 9.88 APOA5 APOC2 APOC3 LIPC LPL PNLIP
2 extracellular region GO:0005576 9.8 APOA5 APOC2 APOC3 GPIHBP1 LIPC LPL
3 high-density lipoprotein particle GO:0034364 9.46 APOA5 APOC2 GPIHBP1 LIPC
4 low-density lipoprotein particle GO:0034362 9.43 APOA5 APOC2
5 spherical high-density lipoprotein particle GO:0034366 9.37 APOC2 APOC3
6 intermediate-density lipoprotein particle GO:0034363 9.32 APOC2 APOC3
7 very-low-density lipoprotein particle GO:0034361 9.26 APOA5 APOC2 APOC3 LPL
8 chylomicron GO:0042627 8.92 APOA5 APOC2 APOC3 LPL

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.96 APOC2 APOC3 LIPC LPL PNLIP
2 lipid catabolic process GO:0016042 9.85 APOC2 APOC3 LIPC LPL PNLIP
3 lipid transport GO:0006869 9.79 APOA5 APOC2 APOC3
4 triglyceride metabolic process GO:0006641 9.78 APOA5 APOC3 LMF1 LPL
5 triglyceride catabolic process GO:0019433 9.73 APOA5 APOC3 LIPC LPL
6 cholesterol efflux GO:0033344 9.71 APOA5 APOC2 APOC3
7 reverse cholesterol transport GO:0043691 9.71 APOA5 APOC2 APOC3 LIPC
8 high-density lipoprotein particle remodeling GO:0034375 9.7 APOC2 APOC3 LIPC
9 phospholipid efflux GO:0033700 9.69 APOA5 APOC2 APOC3
10 chylomicron remodeling GO:0034371 9.67 APOC2 APOC3 LPL
11 positive regulation of lipoprotein lipase activity GO:0051006 9.67 APOA5 APOC2 GPIHBP1 LMF1
12 fatty acid biosynthetic process GO:0006633 9.63 LIPC LPL
13 retinoid metabolic process GO:0001523 9.63 APOC2 APOC3
14 lipoprotein metabolic process GO:0042157 9.62 APOA5 APOC3
15 positive regulation of fatty acid biosynthetic process GO:0045723 9.62 APOA5 APOC2
16 regulation of lipoprotein lipase activity GO:0051004 9.62 GPIHBP1 LIPC LMF1 LPL
17 chylomicron assembly GO:0034378 9.61 APOC2 APOC3
18 positive regulation of triglyceride catabolic process GO:0010898 9.6 APOA5 APOC2
19 negative regulation of receptor-mediated endocytosis GO:0048261 9.59 APOC2 APOC3
20 negative regulation of lipid metabolic process GO:0045833 9.58 APOC2 APOC3
21 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.58 APOC2 APOC3
22 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.57 APOA5 APOC2
23 very-low-density lipoprotein particle remodeling GO:0034372 9.56 APOA5 APOC2 LIPC LPL
24 positive regulation of very-low-density lipoprotein particle remodeling GO:0010902 9.55 APOA5 APOC2
25 chylomicron remnant clearance GO:0034382 9.46 APOC2 APOC3 LIPC LMF1
26 cholesterol homeostasis GO:0042632 9.43 APOA5 APOC2 APOC3 GPIHBP1 LIPC LPL
27 triglyceride homeostasis GO:0070328 9.1 APOA5 APOC2 APOC3 GPIHBP1 LIPC LPL

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.65 APOA5 LIPC LPL
2 lipid binding GO:0008289 9.56 APOA5 APOC2 APOC3 GPIHBP1
3 enzyme activator activity GO:0008047 9.51 APOA5 APOC2
4 cholesterol binding GO:0015485 9.49 APOA5 APOC3
5 lipase activity GO:0016298 9.46 LIPC PNLIP
6 apolipoprotein binding GO:0034185 9.43 LIPC LPL
7 phospholipase activity GO:0004620 9.4 LIPC LPL
8 lipase binding GO:0035473 9.37 APOA5 GPIHBP1
9 lipase inhibitor activity GO:0055102 9.32 APOC2 APOC3
10 lipoprotein lipase activator activity GO:0060230 9.16 APOA5 APOC2
11 carboxylic ester hydrolase activity GO:0052689 9.13 LIPC LPL PNLIP
12 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....