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 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
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
Familial Chylomiconemia Syndrome 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:



External Ids:

Disease Ontology 12 DOID:14118
ICD10 33 E78.3
ICD9CM 35 272.3
MeSH 44 D008072
NCIt 50 C84771
UMLS 73 C0023817

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 hyperlipoproteinemia, type v and pancreatitis. 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 skin, pancreas and liver, and related phenotypes are Decreased free cholesterol and homeostasis/metabolism

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 28)
# Related Disease Score Top Affiliating Genes
1 hyperlipoproteinemia, type v 30.9 APOA5 APOC2 LPL
2 pancreatitis 28.4 APOA5 APOC2 LPL PNLIP
3 hyperlipoproteinemia, type i 11.4
4 recurrent acute pancreatitis 10.2 GPIHBP1 LPL
5 hyperlipidemia, familial combined 10.1 APOA5 LPL
6 homozygous familial hypercholesterolemia 10.1 LIPC LPL
7 hypoalphalipoproteinemia, primary 10.1 LIPC LPL
8 nodular nonsuppurative panniculitis 9.9 LIPC PNLIP
9 hyperalphalipoproteinemia 1 9.9 LIPC LPL
10 hepatitis 9.9
11 type i 9.9
12 hepatic lipase deficiency 9.8 LIPC LPL PNLIP
13 hyperlipidemia, combined, 1 9.7 APOA5 LIPC LPL
14 steatorrhea 9.7 APOC2 PNLIP
15 hyperlipoproteinemia, type iii 9.6 APOA5 LIPC LPL
16 coronary heart disease 1 9.6 APOA5 LIPC LPL
17 lipid metabolism disorder 9.6 APOA5 LIPC LPL
18 lipase deficiency, combined 9.6 LIPC LMF1 LPL
19 lecithin:cholesterol acyltransferase deficiency 9.4 APOC2 LPL
20 apolipoprotein c-ii deficiency 9.4 APOC2 GPIHBP1 LPL
21 coronary artery anomaly 9.4 APOA5 LIPC LPL
22 acute pancreatitis 9.4 APOC2 LPL PNLIP
23 familial hyperlipidemia 9.3 APOC2 LIPC LPL
24 hypercholesterolemia, familial 9.2 APOC2 LIPC LPL
25 body mass index quantitative trait locus 11 9.1 APOA5 LIPC LPL PNLIP
26 hyperlipoproteinemia, type iv 8.7 APOA5 APOC2 LIPC LPL
27 hypertriglyceridemia, familial 8.7 APOA5 APOC2 LIPC LPL
28 diabetes mellitus, noninsulin-dependent 8.5 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:

26
# 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:

46
# 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,Phase 3 22916-47-8 4189
2
Mycophenolic acid Approved Phase 2, Phase 3,Phase 3 24280-93-1 446541
3
Mycophenolate mofetil Approved, Investigational Phase 2, Phase 3,Phase 3 128794-94-5 5281078
4
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
5
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
6
Fosamprenavir Approved Phase 3,Phase 1,Phase 2 226700-79-4 131536
7 Cyclosporins Phase 2, Phase 3,Phase 3
8 Dermatologic Agents Phase 2, Phase 3,Phase 3
9 Anti-Bacterial Agents Phase 2, Phase 3,Phase 3
10 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 3
11 Immunosuppressive Agents Phase 2, Phase 3,Phase 3
12 Anti-Infective Agents Phase 2, Phase 3,Phase 3
13 Antifungal Agents Phase 2, Phase 3,Phase 3
14 Antitubercular Agents Phase 2, Phase 3,Phase 3
15 Antirheumatic Agents Phase 2, Phase 3,Phase 3
16 Calcineurin Inhibitors Phase 2, Phase 3,Phase 3
17 Prednisolone acetate Phase 2, Phase 3
18 glucocorticoids Phase 2, Phase 3
19 Methylprednisolone acetate Phase 2, Phase 3
20 Methylprednisolone Hemisuccinate Phase 2, Phase 3
21 Gastrointestinal Agents Phase 2, Phase 3
22 Neuroprotective Agents 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 Peripheral Nervous System Agents Phase 2, Phase 3
27 Prednisolone hemisuccinate Phase 2, Phase 3
28 Prednisolone phosphate Phase 2, Phase 3
29 Antiemetics Phase 2, Phase 3
30 Protective Agents Phase 2, Phase 3
31 Anti-Inflammatory Agents Phase 2, Phase 3
32 Autonomic Agents Phase 2, Phase 3
33 Antineoplastic Agents, Hormonal Phase 2, Phase 3
34
Orlistat Approved, Investigational Phase 2 96829-58-2 3034010
35 Anti-Obesity Agents Phase 2
36
Heparin Approved, Investigational 9005-49-6 772 46507594
37 calcium heparin
38 Fibrinolytic Agents
39 Anticoagulants
40 Calcium, Dietary

Interventional clinical trials:

(show all 18)
# 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 Gemcabene for the Treatment of Pediatric NAFLD 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 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
14 Biomarker for Homozygous Familial Hypercholesterolemia Recruiting NCT03198897
15 Lipoprotein Lipase Enzyme Activity Assay Validation and Clinical Assessment Active, not recruiting NCT02656095 Heparin
16 Glybera Registry, Lipoprotein Lipase Deficient (LPLD) Patients Active, not recruiting NCT03293810
17 Volanesorsen Early Access Program for Patients With Familial Chylomicronemia Syndrome (FCS) Available NCT03544060 Volanesorsen
18 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:

41
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
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
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
21
Occurrence of multiple aberrantly spliced mRNAs upon a donor splice site mutation that causes familial lipoprotein lipase deficiency. ( 1761570 )
1991
22
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. ( 1752947 )
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

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 cholesterol homeostasis GO:0042632 9.72 APOA5 APOC2 GPIHBP1 LIPC LPL
4 retinoid metabolic process GO:0001523 9.71 APOC2 GPIHBP1 LPL PNLIP
5 triglyceride metabolic process GO:0006641 9.69 APOA5 LMF1 LPL
6 triglyceride catabolic process GO:0019433 9.67 APOA5 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 lipoprotein lipase activity GO:0051006 9.56 APOA5 APOC2 GPIHBP1 LMF1
15 positive regulation of triglyceride catabolic process GO:0010898 9.55 APOA5 APOC2
16 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.54 APOA5 APOC2
17 chylomicron remnant clearance GO:0034382 9.54 APOC2 LIPC LMF1
18 positive regulation of very-low-density lipoprotein particle remodeling GO:0010902 9.52 APOA5 APOC2
19 very-low-density lipoprotein particle remodeling GO:0034372 9.46 APOA5 APOC2 LIPC LPL
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 9.58 APOA5 LIPC LPL
3 enzyme activator activity GO:0008047 9.48 APOA5 APOC2
4 lipase activity GO:0016298 9.43 LIPC PNLIP
5 apolipoprotein binding GO:0034185 9.37 LIPC LPL
6 carboxylic ester hydrolase activity GO:0052689 9.33 LIPC LPL PNLIP
7 phospholipase activity GO:0004620 9.32 LIPC LPL
8 lipase binding GO:0035473 9.26 APOA5 GPIHBP1
9 lipoprotein lipase activator activity GO:0060230 8.96 APOA5 APOC2
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
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
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