LPL DEFICIENCY
MCID: LPP001
MIFTS: 63

Lipoprotein Lipase Deficiency (LPL DEFICIENCY) malady

Categories: Genetic diseases, Metabolic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Lipoprotein Lipase Deficiency

Aliases & Descriptions for Lipoprotein Lipase Deficiency:

Name: Lipoprotein Lipase Deficiency 54 66 13
Hyperlipoproteinemia Type I 29 69
Familial Chylomicronemia 66 29
Lpl Deficiency 56 66
Familial Lipoprotein Lipase Deficiency 56
Hyperlipoproteinemia, Type I 54
Hyperlipoproteinemia Type Ia 66
Hyperlipoproteinemia Type 1a 66
Lipoprotein Lipase 13

Characteristics:

HPO:

32
lipoprotein lipase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 238600
Orphanet 56 ORPHA309015
ICD10 via Orphanet 34 E78.3

Summaries for Lipoprotein Lipase Deficiency

UniProtKB/Swiss-Prot : 66 Lipoprotein lipase deficiency: Recessive disorder usually manifesting in childhood. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis.

MalaCards based summary : Lipoprotein Lipase Deficiency, also known as hyperlipoproteinemia type i, is related to hypertriglyceridemia and familial lipoprotein lipase deficiency, and has symptoms including nausea, vomiting and nausea and vomiting. An important gene associated with 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 heart, endothelial and monocytes, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

Wikipedia : 71 Lipoprotein lipase deficiency (also known as \"familial chylomicronemia syndrome\", \"chylomicronemia\",... more...

Description from OMIM: 238600

Related Diseases for Lipoprotein Lipase Deficiency

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

(show top 50) (show all 77)
id Related Disease Score Top Affiliating Genes
1 hypertriglyceridemia 29.4 APOA1 APOB APOC3 APOE CETP LCAT
2 familial lipoprotein lipase deficiency 12.7
3 lipase deficiency, combined 11.2
4 alport syndrome and thin basement membrane nephropathy 10.3 APOE LPL
5 pancreatitis 10.3
6 arena syndrome 10.3 APOA1 LCAT
7 zap-70 deficiency 10.3 APOB APOE
8 keratoconus 4 10.3 APOB APOE
9 abducens nerve neoplasm 10.2 LPL PNLIP
10 lipoprotein glomerulopathy 10.2 APOE LCAT
11 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome 10.2 APOB APOE LPL
12 tyrosinemia, type ii 10.2 APOA1 LCAT
13 atopic dermatitis 4 10.2 APOC3 LPA
14 dentinogenesis imperfecta type 2 10.2 APOB APOE LCAT
15 familial progressive cardiac conduction defect 10.2 APOA1 APOE LCAT
16 hypercholesterolemia, due to ligand-defective apo b 10.2 APOB APOE LCAT
17 myxofibrosarcoma 10.2 APOE LPL
18 anaplastic ganglioglioma 10.1 APOA1 LCAT LPA
19 pars planitis 10.1 APOA1 APOE
20 spinocerebellar ataxia 20 10.1 APOA1 APOB LPA
21 c1s deficiency 10.1 APOE INS LPL
22 cataract 20, multiple types 10.1 APOB INS LPL
23 cetp-related hyperalphalipoproteinemia 10.1 APOB APOE INS
24 congenital chloride diarrhea 10.1 APOA1 APOB LPA
25 craniodiaphyseal dysplasia 10.1 APOA1 APOB C3
26 hyperchlorhidrosis, isolated 10.1 APOA1 APOE LPL PNLIP
27 posterior uveal melanoma 10.1 APOA1 APOB INS
28 albinism, oculocutaneous, type v 10.1 APOA1 APOB APOE LPA
29 alzheimer disease 19, late onset 10.0 APOB APOE LCAT LPA
30 optic nerve neoplasm 10.0 APOA1 APOB APOE LPA
31 fetal warfarin syndrome 10.0 APOA1 APOB INS LCAT
32 primary pigmented nodular adrenocortical disease 10.0 APOA1 APOB APOE INS
33 body dysmorphic disorder 10.0 APOA1 APOB INS
34 iron metabolism disease 10.0 APOE PLTP
35 joint disorders 10.0 APOA1 APOB APOE INS LPL
36 muscular dystrophy, limb-girdle, type ic 10.0 BTD LPL
37 thymus adenosquamous carcinoma 9.9 APOA1 C3 LCAT
38 asphyxia neonatorum 9.9 APOE LPA LPL PON1
39 dyserythropoietic anemia, congenital, type ii 9.9 APOA1 APOC3 APOE LCAT LPA
40 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.9 APOB APOE C3 CETP
41 endotheliitis 9.9
42 atherosclerosis 9.9
43 hepatitis 9.9
44 mannosidosis, beta 9.9 APOA1 APOB APOE CETP LCAT LPL
45 bird fancier's lung 9.9 APOA1 APOB APOE LCAT LPA LPL
46 skin squamous cell carcinoma 9.8 APOA1 APOB APOE CETP LPA LPL
47 bleeding disorder, east texas type 9.8 APOA1 APOB APOC3 APOE INS LPL
48 gait apraxia 9.8 APOA1 APOB APOE CETP PON1
49 stone in bladder diverticulum 9.8 APOA1 APOB APOE CETP LCAT LPA
50 cervix small cell carcinoma 9.8 APOA1 APOB APOE INS PON1

Comorbidity relations with Lipoprotein Lipase Deficiency via Phenotypic Disease Network (PDN):


Hypertension, Essential Intermediate Coronary Syndrome
Ischemic Heart Disease

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



Diseases related to Lipoprotein Lipase Deficiency

Symptoms & Phenotypes for Lipoprotein Lipase Deficiency

Symptoms by clinical synopsis from OMIM:

238600

Clinical features from OMIM:

238600

Human phenotypes related to Lipoprotein Lipase Deficiency:

32 (show all 24)
id Description HPO Frequency HPO Source Accession
1 nausea 32 HP:0002018
2 vomiting 32 HP:0002013
3 nausea and vomiting 32 HP:0002017
4 hepatosplenomegaly 32 HP:0001433
5 depression 32 HP:0000716
6 diabetes mellitus 32 HP:0000819
7 failure to thrive 32 HP:0001508
8 splenomegaly 32 HP:0001744
9 hypertriglyceridemia 32 HP:0002155
10 pulmonary embolism 32 HP:0002204
11 hepatic steatosis 32 HP:0001397
12 jaundice 32 HP:0000952
13 pancreatitis 32 HP:0001733
14 memory impairment 32 HP:0002354
15 hyperlipidemia 32 HP:0003077
16 dementia 32 HP:0000726
17 hypercholesterolemia 32 HP:0003124
18 episodic abdominal pain 32 HP:0002574
19 recurrent pancreatitis 32 HP:0100027
20 eruptive xanthomas 32 HP:0001013
21 acute pancreatitis 32 HP:0001735
22 hyperchylomicronemia 32 HP:0012238
23 perianal abscess 32 HP:0009789
24 lipemia retinalis 32 HP:0000660

GenomeRNAi Phenotypes related to 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 9.56 APOA1 APOB APOC3 APOE CETP LPA
2 Increased LDL uptake GR00340-A-1 8.8 APOA1 APOE LPL

MGI Mouse Phenotypes related to Lipoprotein Lipase Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 APOA1 APOB APOE BTD C3 INS
2 cardiovascular system MP:0005385 9.92 APOE C3 INS LCAT LPL PON1
3 liver/biliary system MP:0005370 9.76 APOA1 APOB APOE C3 INS LCAT
4 muscle MP:0005369 9.43 APOB APOE BTD C3 INS LPL
5 vision/eye MP:0005391 9.17 APOB APOE BTD C3 INS LCAT

Drugs & Therapeutics for Lipoprotein Lipase Deficiency

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

(show top 50) (show all 90)
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
Simvastatin Approved Phase 3 79902-63-9 54454
9
Fluvastatin Approved Phase 3 93957-54-1 1548972
10
Pitavastatin Approved Phase 3 147511-69-1, 147526-32-7 6366718 5282452
11
Pravastatin Approved Phase 3 81093-37-0 54687
12
Emtricitabine Approved, Investigational Phase 3 143491-57-0 60877
13
Lopinavir Approved Phase 3 192725-17-0 92727
14
Ritonavir Approved, Investigational Phase 3,Phase 2 155213-67-5 392622
15
Tenofovir Approved, Investigational Phase 3 147127-20-6 464205
16
Tipranavir Approved, Investigational Phase 2, Phase 3 174484-41-4 65027
17
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
18
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
19
Nicotinamide Approved, Nutraceutical Phase 3 98-92-0 936
20 Anti-Bacterial Agents Phase 2, Phase 3
21 Antibiotics, Antitubercular Phase 2, Phase 3
22 Antifungal Agents Phase 2, Phase 3
23 Anti-Infective Agents Phase 2, Phase 3
24 Antirheumatic Agents Phase 2, Phase 3
25 Calcineurin Inhibitors Phase 2, Phase 3
26 Dermatologic Agents Phase 2, Phase 3
27 Immunosuppressive Agents Phase 2, Phase 3
28 Antiemetics Phase 2, Phase 3
29 Anti-Inflammatory Agents Phase 2, Phase 3
30 Antineoplastic Agents, Hormonal Phase 2, Phase 3
31 Autonomic Agents Phase 2, Phase 3
32 Gastrointestinal Agents Phase 2, Phase 3
33 glucocorticoids Phase 2, Phase 3
34 Hormone Antagonists Phase 2, Phase 3
35 Hormones Phase 2, Phase 3
36 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
37 Methylprednisolone acetate Phase 2, Phase 3
38 Methylprednisolone Hemisuccinate Phase 2, Phase 3
39 Neuroprotective Agents Phase 2, Phase 3
40 Peripheral Nervous System Agents Phase 2, Phase 3
41 Prednisolone acetate Phase 2, Phase 3
42 Prednisolone hemisuccinate Phase 2, Phase 3
43 Prednisolone phosphate Phase 2, Phase 3
44 Protective Agents Phase 2, Phase 3
45 Antibodies Phase 3
46 Antibodies, Monoclonal Phase 3
47 Atorvastatin Calcium Phase 3 134523-03-8
48 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
49 Immunoglobulins Phase 3
50 Pharmaceutical Solutions Phase 3,Phase 2

Interventional clinical trials:

(show all 34)
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 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
3 The APPROACH Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Patients With Familial Chylomicronemia Syndrome Completed NCT02211209 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 Efficacy and Safety of Alirocumab (SAR236553/REGN727) Versus Placebo on Top of Lipid-Modifying Therapy in Patients With Heterozygous Familial Hypercholesterolemia Not Adequately Controlled With Their Lipid-Modifying Therapy Completed NCT01623115 Phase 3
6 A 52 Week Study To Assess The Use Of Bococizumab (PF-04950615; RN316) In Subjects With Heterozygous Familial Hypercholesterolemia Completed NCT01968980 Phase 3
7 Efficacy and Safety Evaluation of Alirocumab in Patients With Heterozygous Familial Hypercholesterolemia or High Cardiovascular Risk Patients With Hypercholesterolemia on Lipid Modifying Therapy (ODYSSEY JAPAN) Completed NCT02107898 Phase 3
8 Lipid Efficacy Study (0524B-022)(COMPLETED) Completed NCT00269217 Phase 3
9 A Study of the Safety and Efficacy of Anacetrapib (MK-0859) When Added to Ongoing Statin Therapy in Japanese Participants With Heterozygous Familial Hypercholesterolemia (MK-0859-050) Completed NCT01824238 Phase 3
10 Atorvastatin Three Year Pediatric Study Completed NCT00827606 Phase 3
11 Lipid Efficacy and Safety in Participants With Mixed Hyperlipidemia (MK-0524B-024) Completed NCT00289900 Phase 3
12 Study Comparing Lopinavir/Ritonavir (LPV/r) + Emtricitabine/Tenofovir Disoproxil Fumarate (FTC/TDF) With a Nucleoside Sparing Regimen Consisting of Lopinavir/Ritonavir + Raltegravir (RAL) Completed NCT00711009 Phase 3
13 Rollover Trial Safety and Tolerability of Combination Tipranavir and Ritonavir Use in HIV 1 Infected Subjects Completed NCT00146328 Phase 2, Phase 3
14 The Approach Open Label Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Patients With Familial Chylomicronemia Syndrome Recruiting NCT02658175 Phase 3
15 Extension to a Randomized, Double-blind, Placebo Controlled Study of LCQ908 in Subjects With Familial Chylomicronemia Syndrome. Terminated NCT01589237 Phase 3
16 Efficacy and Tolerability of Anacetrapib Added to Ongoing Lipid-Lowering Therapy in Adult Participants With Homozygous Familial Hypercholesterolemia (HoFH) (MK-0859-042) Terminated NCT01841684 Phase 3
17 Efficacy and Safety Study of Eprotirome in HeFH Patients Who Are on Optimal Standard of Care Terminated NCT01410383 Phase 3
18 Pilot Study To Assess CAT-2003 in Patients With Chylomicronemia Completed NCT02098278 Phase 2
19 Safety, Tolerability,Pharmacokinetics(PK)and Pharmacodynamics(PD)Assessment of LCQ908 in Patients With Severe Hypertriglyceridemia Completed NCT01146522 Phase 1, Phase 2
20 A Pilot Study to Evaluate the Lipid Effects of TRIA-662 Completed NCT02008084 Phase 2
21 Study to Evaluate the Effects of MBX-8025 in Patients With HoFH Completed NCT02472535 Phase 2
22 48-Week Study Of GW433908 And Ritonavir Or GW433908 Alone, Twice Daily In Pediatric Patients With HIV Infection Completed NCT00089583 Phase 2
23 Orlistat for the Treatment of Type I Hyperlipoproteinemia Recruiting NCT02767531 Phase 2
24 Alipogene Tiparvovec for the Treatment of LPLD Patients Recruiting NCT02904772 Phase 2
25 Phase 2 Study of Orlistat and SLx-4090 for the Treatment of Type 1 Hyperlipoproteinemia Recruiting NCT01675154 Phase 2
26 Study Of An Investigational Regimen Including FDA Approved HIV Drugs In HIV-Infected Pediatric Subjects Active, not recruiting NCT00071760 Phase 2
27 Phase I Study of Ex Vivo Liver-Directed Gene Therapy for Familial Hypercholesterolemia Completed NCT00004809 Phase 1
28 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
29 Effect of Weight Loss on Cholesterol Metabolism in Hereditary Hypercholesterolemias and Overweight or Obesity. Completed NCT01995149
30 Following Lipectomy to Understand Adipose Tissue Re-accumulation Completed NCT00995631
31 Russian Familial Hypercholesterolemia Registry Recruiting NCT02208869
32 Pediatric Population Screening for Type 1 Diabetes and Familial Hypercholesterolemia in Lower Saxony, Germany Enrolling by invitation NCT02750527
33 Lipoprotein Lipase Enzyme Activity Assay Validation and Clinical Assessment Not yet recruiting NCT02656095
34 Duration of Effect of Alipogene Tiparvovec Treatment, Which Was Administered in Other Studies Terminated NCT01447901

Search NIH Clinical Center for Lipoprotein Lipase Deficiency

Genetic Tests for Lipoprotein Lipase Deficiency

Genetic tests related to Lipoprotein Lipase Deficiency:

id Genetic test Affiliating Genes
1 Hyperlipoproteinemia, Type I 29
2 Familial Chylomicronemia Syndrome 29

Anatomical Context for Lipoprotein Lipase Deficiency

MalaCards organs/tissues related to Lipoprotein Lipase Deficiency:

39
Heart, Endothelial, Monocytes, Bone, Skin, Kidney

Publications for Lipoprotein Lipase Deficiency

Articles related to Lipoprotein Lipase Deficiency:

(show top 50) (show all 160)
id Title Authors Year
1
Eruptive Xanthomas in Lipoprotein Lipase Deficiency. ( 28529016 )
2017
2
Homozygous LPL p.Gly188Glu Mutation in a Mexican Girl With Lipoprotein Lipase Deficiency. ( 28445021 )
2017
3
Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomy. ( 28438574 )
2017
4
Lipoprotein Lipase Deficiency (R243H) in a Type 2 Diabetes Patient with Multiple Arterial Aneurysms. ( 27150867 )
2016
5
The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency. ( 28284702 )
2016
6
Long-Term Retrospective Analysis of Gene Therapy with Alipogene Tiparvovec and Its Effect on Lipoprotein Lipase Deficiency-Induced Pancreatitis. ( 27412455 )
2016
7
Lipoprotein lipase deficiency presenting with neonatal perianal abscesses. ( 26825936 )
2016
8
Lipaemia in lipoprotein lipase deficiency. ( 27329915 )
2016
9
Lipaemia in lipoprotein lipase deficiency. ( 27329913 )
2016
10
A 19 year follow-up of a woman with lipoprotein lipase deficiency treated with biliopancreatic diversion. ( 26734140 )
2015
11
Issues Affecting Quality of Life and Disease Burden in Lipoprotein Lipase Deficiency (Lpld) - First Step Towards a Pro Measure in Lpld. ( 26533960 )
2015
12
Cost-Effectiveness Analysis of Glybera for The Treatment of Lipoprotein Lipase Deficiency. ( 26534236 )
2015
13
Type I hyperlipidaemia caused by lipoprotein lipase deficiency in a nurseling: the role of the clinical laboratory in processing biological samples and contributing to the diagnosis and therapeutic follow-up of patients. ( 26489817 )
2015
14
Lipoprotein lipase deficiency leads to I+-synuclein aggregation and ubiquitin C-terminal hydrolase L1 reduction. ( 25595992 )
2015
15
Alipogene tiparvovec: a review of its use in adults with familial lipoprotein lipase deficiency. ( 25559420 )
2015
16
Lipoprotein lipase deficiency: clinical, biochemical and molecular characteristics in three patients with novel mutations in the LPL gene. ( 25863041 )
2014
17
Association of CTRC and SPINK1 gene variants with recurrent hospitalizations for pancreatitis or acute abdominal pain in lipoprotein lipase deficiency. ( 24795752 )
2014
18
Alipogene tiparvovec for the treatment of lipoprotein lipase deficiency. ( 23527320 )
2013
19
Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial. ( 22717743 )
2013
20
Gestational hyperlipidemia and acute pancreatitis with underlying partial lipoprotein lipase deficiency and apolipoprotein E3/E2 genotype. ( 24009459 )
2013
21
Alipogene tiparvovec: gene therapy for lipoprotein lipase deficiency. ( 23126631 )
2013
22
Severe Hypertriglyceridemia in a Newborn with Monogenic Lipoprotein Lipase Deficiency: An Unconventional Therapeutic Approach with Exchange Transfusion. ( 24142281 )
2013
23
Adipose-specific lipoprotein lipase deficiency more profoundly affects brown than white fat biology. ( 23542081 )
2013
24
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
25
Molecular analysis of chylomicronemia in a clinical laboratory setting: Diagnosis of 13 cases of lipoprotein lipase deficiency. ( 24291057 )
2013
26
Metabolic surgery for the treatment of hypertriglyceridemia-related pancreatitis due to familial lipoprotein lipase deficiency. ( 24680758 )
2013
27
Lipoprotein abnormalities in compound heterozygous lipoprotein lipase deficiency after treatment with a low-fat diet and orlistat. ( 23415432 )
2013
28
Immune responses to intramuscular administration of alipogene tiparvovec (AAV1-LPLS447X) in a phase II clinical trial of Lipoprotein Lipase deficiency (LPLD) gene therapy. ( 24299335 )
2013
29
Lipoprotein lipase deficiency in chronic kidney disease is accompanied by down-regulation of endothelial GPIHBP1 expression. ( 22009636 )
2012
30
Gene therapy for lipoprotein lipase deficiency. ( 22691709 )
2012
31
11-Year follow-up in biliopancreatic diversion for recurrent pancreatitis due to lipoprotein lipase deficiency. ( 21415674 )
2011
32
Lipoprotein lipase deficiency in an infant. ( 22080683 )
2011
33
A sweet heart: increased cardiac glucose uptake in patients with lipoprotein lipase deficiency. ( 21845510 )
2011
34
Review of the clinical development of alipogene tiparvovec gene therapy for lipoprotein lipase deficiency. ( 20427244 )
2010
35
Hyperlipidemia resulting in abnormal density and signal intensity of blood in a neonate with lipoprotein lipase deficiency. ( 20037129 )
2010
36
Lipoprotein lipase deficiency with visceral xanthomas. ( 20143060 )
2010
37
Lipoprotein lipase deficiency is associated with elevated acylation stimulating protein plasma levels. ( 19237736 )
2009
38
Enhanced susceptibility to pancreatitis in severe hypertriglyceridaemic lipoprotein lipase-deficient mice and agonist-like function of pancreatic lipase in pancreatic cells. ( 18936103 )
2009
39
Alipogene tiparvovec, an adeno-associated virus encoding the Ser(447)X variant of the human lipoprotein lipase gene for the treatment of patients with lipoprotein lipase deficiency. ( 20072945 )
2009
40
The role of free fatty acids, pancreatic lipase and Ca+ signalling in injury of isolated acinar cells and pancreatitis model in lipoprotein lipase-deficient mice. ( 18983441 )
2009
41
Presynaptic defects underlying impaired learning and memory function in lipoprotein lipase-deficient mice. ( 19357293 )
2009
42
Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations. ( 18275685 )
2008
43
Spontaneous atherosclerosis in aged lipoprotein lipase-deficient mice with severe hypertriglyceridemia on a normal chow diet. ( 18032735 )
2008
44
Xanthoma of bone associated with lipoprotein lipase deficiency. ( 18828009 )
2008
45
[Familial lipoprotein lipase deficiency]. ( 17824045 )
2007
46
A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency. ( 17706445 )
2007
47
Glucose-stimulated insulin response in non-diabetic patients with lipoprotein lipase deficiency and hypertriglyceridemia. ( 16256241 )
2006
48
Correction of feline lipoprotein lipase deficiency with adeno-associated virus serotype 1-mediated gene transfer of the lipoprotein lipase S447X beneficial mutation. ( 16716106 )
2006
49
A novel substitution at the translation initiator codon (ATG-->ATC) of the lipoprotein lipase gene is mainly responsible for lipoprotein lipase deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis. ( 16431216 )
2006
50
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. ( 15877202 )
2005

Variations for Lipoprotein Lipase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Lipoprotein Lipase Deficiency:

66 (show top 50) (show all 70)
id Symbol AA change Variation ID SNP ID
1 LPL p.Arg102Ser VAR_004211 rs118204073
2 LPL p.Trp113Gly VAR_004212
3 LPL p.Trp113Arg VAR_004213 rs118204069
4 LPL p.His163Arg VAR_004214
5 LPL p.Gly169Glu VAR_004215 rs118204063
6 LPL p.Gly181Ser VAR_004216
7 LPL p.Asp183Gly VAR_004217 rs118204064
8 LPL p.Asp183Asn VAR_004218
9 LPL p.Pro184Arg VAR_004219
10 LPL p.Ala185Thr VAR_004220 rs748349562
11 LPL p.Ser199Cys VAR_004221 rs118204072
12 LPL p.Ala203Thr VAR_004222 rs118204056
13 LPL p.Asp207Glu VAR_004223 rs118204076
14 LPL p.His210Gln VAR_004224
15 LPL p.Gly215Glu VAR_004225 rs118204057
16 LPL p.Ser220Arg VAR_004226 rs757546424
17 LPL p.Ile221Thr VAR_004227 rs118204061
18 LPL p.Gly222Glu VAR_004228 rs118204075
19 LPL p.Asp231Glu VAR_004229 rs118204067
20 LPL p.Ile232Ser VAR_004230 rs770601263
21 LPL p.Pro234Leu VAR_004231 rs118204060
22 LPL p.Cys243Ser VAR_004232
23 LPL p.Arg270His VAR_004233 rs118204062
24 LPL p.Ser271Thr VAR_004234 rs28934893
25 LPL p.Asp277Asn VAR_004235 rs118204068
26 LPL p.Ser278Cys VAR_004236
27 LPL p.Ser286Gly VAR_004237
28 LPL p.Ser286Arg VAR_004238
29 LPL p.Asn318Ser VAR_004239 rs268
30 LPL p.Met328Thr VAR_004240
31 LPL p.Leu330Pro VAR_004241
32 LPL p.Ala361Thr VAR_004242 rs118204071
33 LPL p.Leu392Val VAR_004243 rs118204078
34 LPL p.Glu437Lys VAR_004245
35 LPL p.Glu437Val VAR_004246
36 LPL p.Asp36Asn VAR_011948 rs1801177
37 LPL p.Ala288Thr VAR_011949 rs1800011
38 LPL p.Asn70Ser VAR_057914
39 LPL p.Val96Leu VAR_057915 rs373088068
40 LPL p.Ala98Thr VAR_057916 rs145657341
41 LPL p.Thr128Ala VAR_057917
42 LPL p.Gly132Arg VAR_057918
43 LPL p.Gly181Val VAR_057919
44 LPL p.Asp183His VAR_057920 rs781614031
45 LPL p.Gly186Glu VAR_057921
46 LPL p.Glu190Gly VAR_057922
47 LPL p.Asp201Val VAR_057923
48 LPL p.Val208Ile VAR_057924 rs568397156
49 LPL p.His210Asp VAR_057925
50 LPL p.Gly215Arg VAR_057926

ClinVar genetic disease variations for Lipoprotein Lipase Deficiency:

6 (show all 38)
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
37 LPL NM_000237.2(LPL): c.928T> C (p.Cys310Arg) single nucleotide variant Likely pathogenic rs886037774 GRCh37 Chromosome 8, 19813504: 19813504
38 LPL NM_000237.2(LPL): c.1187A> T (p.Glu396Val) single nucleotide variant Likely pathogenic rs886037775 GRCh38 Chromosome 8, 19960948: 19960948

Expression for Lipoprotein Lipase Deficiency

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

Pathways for Lipoprotein Lipase Deficiency

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

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 APOA1 APOB APOC3 APOE BTD CETP
2
Show member pathways
12.47 APOA1 APOB APOC3 APOE BTD LPL
3
Show member pathways
12.19 APOA1 APOB APOC3 APOE CETP LCAT
4
Show member pathways
12.18 APOA1 APOB APOC3 APOE LPL PNLIP
5
Show member pathways
12.11 APOA1 APOB APOE INS
6
Show member pathways
11.69 APOA1 APOB APOE
7 11.56 APOA1 APOC3 LPL PLTP
8
Show member pathways
11.28 APOA1 APOB PNLIP
9
Show member pathways
11.06 APOA1 APOB APOC3 APOE CETP LCAT
10 11.02 APOA1 APOC3 PLTP
11 10.94 APOA1 APOB BTD PNLIP

GO Terms for Lipoprotein Lipase Deficiency

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.88 APOA1 APOB APOE C3 INS
2 early endosome GO:0005769 9.83 APOA1 APOB APOC3 APOE
3 blood microparticle GO:0072562 9.81 APOA1 APOE C3 PON1
4 extracellular space GO:0005615 9.77 APOA1 APOB APOC3 APOE BTD C3
5 secretory granule lumen GO:0034774 9.72 APOA1 C3 INS
6 high-density lipoprotein particle GO:0034364 9.72 APOA1 APOE CETP LCAT PON1
7 low-density lipoprotein particle GO:0034362 9.71 APOA1 APOB APOE PLA2G7
8 intermediate-density lipoprotein particle GO:0034363 9.67 APOA1 APOB APOC3 APOE
9 very-low-density lipoprotein particle GO:0034361 9.65 APOA1 APOB APOC3 APOE LPL
10 endocytic vesicle lumen GO:0071682 9.63 APOA1 APOB APOE
11 spherical high-density lipoprotein particle GO:0034366 9.61 APOA1 APOC3 PON1
12 chylomicron GO:0042627 9.55 APOA1 APOB APOC3 APOE LPL
13 endosome lumen GO:0031904 9.54 APOB INS
14 extracellular region GO:0005576 9.5 APOA1 APOB APOC3 APOE BTD C3
15 extracellular exosome GO:0070062 10.19 APOA1 APOB APOC3 APOE BTD C3

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

(show all 48)
id Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.99 APOA1 APOB APOE C3
2 lipid catabolic process GO:0016042 9.99 APOB APOC3 LPL PLA2G7 PNLIP
3 steroid metabolic process GO:0008202 9.98 APOA1 APOB APOE CETP LCAT
4 receptor-mediated endocytosis GO:0006898 9.95 APOA1 APOB APOE CETP
5 lipid transport GO:0006869 9.95 APOA1 APOB APOC3 APOE CETP LPA
6 retinoid metabolic process GO:0001523 9.93 APOA1 APOB APOC3 APOE LPL PNLIP
7 triglyceride metabolic process GO:0006641 9.9 APOC3 APOE CETP LPL
8 triglyceride homeostasis GO:0070328 9.89 APOA1 APOC3 APOE CETP LPL
9 triglyceride catabolic process GO:0019433 9.88 APOA1 APOB APOC3 APOE LPL
10 cholesterol efflux GO:0033344 9.87 APOA1 APOB APOC3 APOE
11 cholesterol transport GO:0030301 9.86 APOA1 APOB CETP LCAT
12 lipoprotein biosynthetic process GO:0042158 9.85 APOA1 APOB APOE LCAT
13 chylomicron assembly GO:0034378 9.84 APOA1 APOB APOC3 APOE
14 phospholipid metabolic process GO:0006644 9.83 APOA1 LCAT LPL
15 reverse cholesterol transport GO:0043691 9.83 APOA1 APOC3 APOE CETP LCAT
16 very-low-density lipoprotein particle remodeling GO:0034372 9.81 APOE CETP LCAT LPL
17 positive regulation of cholesterol efflux GO:0010875 9.8 APOE PLTP PON1
18 cholesterol homeostasis GO:0042632 9.8 APOA1 APOB APOC3 APOE CETP LCAT
19 phospholipid efflux GO:0033700 9.79 APOA1 APOC3 APOE
20 phosphatidylcholine metabolic process GO:0046470 9.79 CETP LCAT PON1
21 chylomicron remnant clearance GO:0034382 9.78 APOB APOC3 APOE
22 low-density lipoprotein particle remodeling GO:0034374 9.77 APOB APOE CETP LPA PLA2G7
23 lipid metabolic process GO:0006629 9.77 APOA1 APOB APOC3 APOE C3 CETP
24 regulation of Cdc42 protein signal transduction GO:0032489 9.75 APOA1 APOC3 APOE
25 chylomicron remodeling GO:0034371 9.72 APOA1 APOB APOC3 APOE LPL
26 lipid homeostasis GO:0055088 9.7 APOE CETP
27 artery morphogenesis GO:0048844 9.7 APOB APOE
28 positive regulation of nitric-oxide synthase activity GO:0051000 9.7 APOE INS
29 negative regulation of lipid catabolic process GO:0050995 9.69 APOC3 INS
30 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.69 APOB LPL
31 high-density lipoprotein particle assembly GO:0034380 9.68 APOA1 APOE
32 fatty acid homeostasis GO:0055089 9.68 APOE INS
33 positive regulation of lipid biosynthetic process GO:0046889 9.68 APOE INS
34 positive regulation of lipid storage GO:0010884 9.68 APOB C3
35 very-low-density lipoprotein particle assembly GO:0034379 9.67 APOB APOC3
36 phospholipid homeostasis GO:0055091 9.67 APOA1 CETP
37 positive regulation of cholesterol esterification GO:0010873 9.67 APOA1 APOE
38 high-density lipoprotein particle clearance GO:0034384 9.66 APOA1 APOE
39 positive regulation of cholesterol storage GO:0010886 9.65 APOB LPL
40 neuron projection regeneration GO:0031102 9.65 APOA1 APOE
41 very-low-density lipoprotein particle clearance GO:0034447 9.64 APOB APOE
42 lipoprotein catabolic process GO:0042159 9.64 APOB APOE
43 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.63 APOA1 APOC3
44 high-density lipoprotein particle remodeling GO:0034375 9.63 APOA1 APOC3 APOE CETP LCAT PLTP
45 lipoprotein metabolic process GO:0042157 9.23 APOA1 APOB APOC3 APOE CETP LCAT
46 transport GO:0006810 10.24 APOA1 APOB APOC3 APOE CETP LPA
47 cellular protein metabolic process GO:0044267 10.03 APOA1 APOB APOE C3 INS
48 cholesterol metabolic process GO:0008203 10 APOA1 APOB APOE CETP LCAT PON1

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.73 APOB APOE LPA LPL
2 lipid binding GO:0008289 9.73 APOA1 APOB APOC3 APOE CETP PLTP
3 cholesterol binding GO:0015485 9.62 APOA1 APOC3 APOE CETP
4 phosphatidylcholine binding GO:0031210 9.56 APOA1 CETP
5 triglyceride lipase activity GO:0004806 9.55 LPL PNLIP
6 low-density lipoprotein particle receptor binding GO:0050750 9.54 APOB APOE
7 apolipoprotein binding GO:0034185 9.52 LPA LPL
8 phospholipid transporter activity GO:0005548 9.51 APOA1 CETP
9 lipase inhibitor activity GO:0055102 9.49 APOA1 APOC3
10 lipoprotein particle binding GO:0071813 9.48 APOA1 APOE
11 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.46 APOA1 APOE
12 lipid transporter activity GO:0005319 9.46 APOA1 APOB APOE CETP
13 high-density lipoprotein particle receptor binding GO:0070653 9.4 APOA1 APOC3
14 triglyceride binding GO:0017129 9.37 CETP LPL
15 cholesterol transporter activity GO:0017127 9.26 APOA1 APOB APOE CETP
16 phospholipid binding GO:0005543 9.1 APOA1 APOB APOC3 APOE PLA2G7 PON1

Sources for 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
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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