MCID: LPP001
MIFTS: 59

Lipoprotein Lipase Deficiency

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

Aliases & Classifications for Lipoprotein Lipase Deficiency

MalaCards integrated aliases for Lipoprotein Lipase Deficiency:

Name: Lipoprotein Lipase Deficiency 54 71 13
Lpl Deficiency 56 71
Familial Lipoprotein Lipase Deficiency 56
Familial Hyperchylomicronemia Syndrome 69
Familial Chylomicronemia Syndrome 29
Hyperlipoproteinemia Type Ia 71
Hyperlipoproteinemia Type 1a 71
Hyperlipoproteinemia Type I 69
Familial Chylomicronemia 71
Lipoprotein Lipase 13

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive
multiple alleles and compounds


HPO:

32
lipoprotein lipase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lipoprotein Lipase Deficiency

UniProtKB/Swiss-Prot : 71 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 lpl deficiency, is related to familial lipoprotein lipase deficiency and lipase deficiency, combined, and has symptoms including failure to thrive, hypertriglyceridemia and hypercholesterolemia. 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 Miconazole and Mycophenolate mofetil have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and bone, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

Wikipedia : 72 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 80)
id Related Disease Score Top Affiliating Genes
1 familial lipoprotein lipase deficiency 12.7
2 lipase deficiency, combined 11.2
3 aquagenic syringeal acrokeratoderm 10.6 APOA1 LCAT
4 xk aprosencephaly 10.5 APOB APOE
5 hypercholesterolemia, due to ligand-defective apo b 10.4 APOB APOE
6 lipoprotein glomerulopathy 10.4 APOE LCAT
7 abducens nerve neoplasm 10.4 APOB LPL PNLIP
8 short stature, brachydactyly, intellectual developmental disability, and seizures 10.4 APOA1 LCAT
9 amyloidosis nodular localized cutaneous 10.4 APOA1 LCAT LPA
10 pars planitis 10.3 APOA1 APOE
11 cirrhotic cardiomyopathy 10.3 APOE LPL
12 familial osteochondritis dissecans 10.3 APOA1 APOE LCAT
13 candidal paronychia 10.3 APOB PNLIP
14 hypertriglyceridemia 10.3
15 immunodeficiency 19 10.3 APOE INS LPL
16 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency 10.3 APOB APOE LCAT
17 dental anomalies and short stature 10.3 APOA1 APOB LPA
18 pancreatitis 10.3
19 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 10.3 APOB APOE LPL
20 atopic dermatitis 3 10.3 APOC3 LPA
21 hypobetalipoproteinemia 10.2 APOB APOE LCAT
22 angina pectoris 10.2 APOA1 APOB LPA
23 otospondylomegaepiphyseal dysplasia 10.2 APOA1 APOB C3
24 cataract, autosomal dominant congenital 4 10.2 APOB APOE INS
25 ovarian clear cell malignant adenofibroma 10.2 APOA1 APOB INS
26 iron metabolism disease 10.1 APOE PLTP
27 amelogenesis imperfecta, type iia3 10.1 APOA1 APOE LPL PNLIP
28 legg-calve-perthes disease 10.1 APOA1 APOB
29 malignant fibrous histiocytoma of bone 10.1 APOB APOE LPA LPL
30 islet cell tumor 10.0 APOA1 APOB APOE LPL
31 fetal parvovirus syndrome 10.0 APOA1 APOB INS LCAT
32 mental retardation, autosomal dominant 45 10.0 APOB APOE LCAT LPA
33 intramuscular hemangioma 10.0 APOC3 INS LPL
34 migraine with or without aura 1 10.0 APOA1 APOB APOE LPA
35 glossopharyngeal nerve disease 10.0 APOA1 APOB APOE LPA
36 monocarboxylate transporter 1 deficiency 9.9 INS LCAT
37 endotheliitis 9.9
38 atherosclerosis 9.9
39 hepatitis 9.9
40 muscular dystrophy, limb-girdle, type ic 9.8 BTD LPL
41 hypertension, essential 9.8 APOA1 APOB INS LPA LPL
42 macular degeneration, age-related, 1 9.8 APOB APOE C3 CETP
43 ischemic heart disease 9.7
44 thrombocytopenia 9.7
45 heart disease 9.7
46 pancytopenia 9.7
47 urticaria 9.7
48 acute pancreatitis 9.7
49 kidney disease 9.7
50 aneurysm 9.7

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 via clinical synopsis from OMIM:

54

Lab:
hypercholesterolemia
hyperlipidemia
hyperlipemia
hyperchylomicronemia
fat-induced hyperlipemia
more
Skin:
jaundice
eruptive xanthomas

Cardiac:
no precocious atherosclerosis

GI:
splenomegaly
pancreatitis
hepatosplenomegaly
episodic abdominal pain
nausea and vomiting
more
Eyes:
lipemia retinalis


Clinical features from OMIM:

238600

Human phenotypes related to Lipoprotein Lipase Deficiency:

32 (show all 24)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 occasional (7.5%) HP:0001508
2 hypertriglyceridemia 32 obligate (100%) HP:0002155
3 hypercholesterolemia 32 HP:0003124
4 splenomegaly 32 HP:0001744
5 jaundice 32 very rare (1%) HP:0000952
6 hyperlipidemia 32 HP:0003077
7 vomiting 32 HP:0002013
8 depression 32 very rare (1%) HP:0000716
9 pancreatitis 32 HP:0001733
10 memory impairment 32 very rare (1%) HP:0002354
11 hepatic steatosis 32 frequent (33%) HP:0001397
12 diabetes mellitus 32 very rare (1%) HP:0000819
13 dementia 32 very rare (1%) HP:0000726
14 nausea 32 HP:0002018
15 pulmonary embolism 32 very rare (1%) HP:0002204
16 hepatosplenomegaly 32 hallmark (90%) HP:0001433
17 episodic abdominal pain 32 hallmark (90%) HP:0002574
18 lipemia retinalis 32 hallmark (90%) HP:0000660
19 perianal abscess 32 very rare (1%) HP:0009789
20 eruptive xanthomas 32 frequent (33%) HP:0001013
21 nausea and vomiting 32 occasional (7.5%) HP:0002017
22 hyperchylomicronemia 32 obligate (100%) HP:0012238
23 recurrent pancreatitis 32 hallmark (90%) HP:0100027
24 acute pancreatitis 32 hallmark (90%) HP:0001735

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 LPL PLTP APOA1 APOB APOC3 APOE
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 APOA1 APOB APOE C3 INS LCAT
3 liver/biliary system MP:0005370 9.76 LPL PNLIP APOA1 APOB APOE C3
4 muscle MP:0005369 9.43 APOE BTD C3 INS LPL APOB
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 all 39)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
2
Mycophenolate mofetil Approved, Investigational Phase 2, Phase 3 128794-94-5 5281078
3
Mycophenolic acid Approved Phase 2, Phase 3 24280-93-1 446541
4
Fosamprenavir Approved Phase 3,Phase 1,Phase 2 226700-79-4 131536
5
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
6
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
7 Anti-Bacterial Agents Phase 2, Phase 3
8 Antibiotics, Antitubercular Phase 2, Phase 3
9 Antifungal Agents Phase 2, Phase 3
10 Anti-Infective Agents Phase 2, Phase 3
11 Antirheumatic Agents Phase 2, Phase 3
12 Calcineurin Inhibitors Phase 2, Phase 3
13 Cyclosporins 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 15)

id 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 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 Alipogene Tiparvovec for the Treatment of LPLD Patients Withdrawn NCT02904772 Phase 2 alipogene tiparvovec;Prednisolone;Cyclosporins;Mycophenolate mofetil
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 GENIALL Lipoprotein Lipase Deficiency (LPLD) Disease Registry Recruiting NCT03293810
13 Biomarker for Homozygous Familial Hypercholesterolemia Recruiting NCT03198897
14 Lipoprotein Lipase Enzyme Activity Assay Validation and Clinical Assessment Active, not recruiting NCT02656095 Heparin
15 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 Familial Chylomicronemia Syndrome 29

Anatomical Context for Lipoprotein Lipase Deficiency

MalaCards organs/tissues related to Lipoprotein Lipase Deficiency:

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

Publications for Lipoprotein Lipase Deficiency

Articles related to Lipoprotein Lipase Deficiency:

(show top 50) (show all 163)
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
The impact of lipoprotein lipase deficiency on health-related quality of life: a detailed, structured, qualitative study. ( 28927429 )
2017
5
Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis. ( 28695157 )
2017
6
Lipoprotein Lipase Deficiency (R243H) in a Type 2 Diabetes Patient with Multiple Arterial Aneurysms. ( 27150867 )
2016
7
Lipaemia in lipoprotein lipase deficiency. ( 27329915 )
2016
8
Lipoprotein lipase deficiency presenting with neonatal perianal abscesses. ( 26825936 )
2016
9
Lipaemia in lipoprotein lipase deficiency. ( 27329913 )
2016
10
The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency. ( 28284702 )
2016
11
Long-Term Retrospective Analysis of Gene Therapy with Alipogene Tiparvovec and Its Effect on Lipoprotein Lipase Deficiency-Induced Pancreatitis. ( 27412455 )
2016
12
Cost-Effectiveness Analysis of Glybera for The Treatment of Lipoprotein Lipase Deficiency. ( 26534236 )
2015
13
Issues Affecting Quality of Life and Disease Burden in Lipoprotein Lipase Deficiency (Lpld) - First Step Towards a Pro Measure in Lpld. ( 26533960 )
2015
14
Alipogene tiparvovec: a review of its use in adults with familial lipoprotein lipase deficiency. ( 25559420 )
2015
15
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
16
A 19 year follow-up of a woman with lipoprotein lipase deficiency treated with biliopancreatic diversion. ( 26734140 )
2015
17
Lipoprotein lipase deficiency leads to I+-synuclein aggregation and ubiquitin C-terminal hydrolase L1 reduction. ( 25595992 )
2015
18
Association of CTRC and SPINK1 gene variants with recurrent hospitalizations for pancreatitis or acute abdominal pain in lipoprotein lipase deficiency. ( 24795752 )
2014
19
Lipoprotein lipase deficiency: clinical, biochemical and molecular characteristics in three patients with novel mutations in the LPL gene. ( 25863041 )
2014
20
Adipose-specific lipoprotein lipase deficiency more profoundly affects brown than white fat biology. ( 23542081 )
2013
21
Lipoprotein abnormalities in compound heterozygous lipoprotein lipase deficiency after treatment with a low-fat diet and orlistat. ( 23415432 )
2013
22
Gestational hyperlipidemia and acute pancreatitis with underlying partial lipoprotein lipase deficiency and apolipoprotein E3/E2 genotype. ( 24009459 )
2013
23
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
24
Alipogene tiparvovec: gene therapy for lipoprotein lipase deficiency. ( 23126631 )
2013
25
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
26
Metabolic surgery for the treatment of hypertriglyceridemia-related pancreatitis due to familial lipoprotein lipase deficiency. ( 24680758 )
2013
27
Severe Hypertriglyceridemia in a Newborn with Monogenic Lipoprotein Lipase Deficiency: An Unconventional Therapeutic Approach with Exchange Transfusion. ( 24142281 )
2013
28
Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial. ( 22717743 )
2013
29
Molecular analysis of chylomicronemia in a clinical laboratory setting: Diagnosis of 13 cases of lipoprotein lipase deficiency. ( 24291057 )
2013
30
Alipogene tiparvovec for the treatment of lipoprotein lipase deficiency. ( 23527320 )
2013
31
Lipoprotein lipase deficiency in chronic kidney disease is accompanied by down-regulation of endothelial GPIHBP1 expression. ( 22009636 )
2012
32
Gene therapy for lipoprotein lipase deficiency. ( 22691709 )
2012
33
Lipoprotein lipase deficiency in an infant. ( 22080683 )
2011
34
A sweet heart: increased cardiac glucose uptake in patients with lipoprotein lipase deficiency. ( 21845510 )
2011
35
11-Year follow-up in biliopancreatic diversion for recurrent pancreatitis due to lipoprotein lipase deficiency. ( 21415674 )
2011
36
Lipoprotein lipase deficiency with visceral xanthomas. ( 20143060 )
2010
37
Review of the clinical development of alipogene tiparvovec gene therapy for lipoprotein lipase deficiency. ( 20427244 )
2010
38
Hyperlipidemia resulting in abnormal density and signal intensity of blood in a neonate with lipoprotein lipase deficiency. ( 20037129 )
2010
39
Lipoprotein lipase deficiency is associated with elevated acylation stimulating protein plasma levels. ( 19237736 )
2009
40
Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review. ( 19295657 )
2009
41
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
42
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
43
Enhanced susceptibility to pancreatitis in severe hypertriglyceridaemic lipoprotein lipase-deficient mice and agonist-like function of pancreatic lipase in pancreatic cells. ( 18936103 )
2009
44
Presynaptic defects underlying impaired learning and memory function in lipoprotein lipase-deficient mice. ( 19357293 )
2009
45
Xanthoma of bone associated with lipoprotein lipase deficiency. ( 18828009 )
2008
46
Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations. ( 18275685 )
2008
47
Spontaneous atherosclerosis in aged lipoprotein lipase-deficient mice with severe hypertriglyceridemia on a normal chow diet. ( 18032735 )
2008
48
[Familial lipoprotein lipase deficiency]. ( 17824045 )
2007
49
A novel complex deletion-insertion mutation mediated by Alu repetitive elements leads to lipoprotein lipase deficiency. ( 17706445 )
2007
50
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

Variations for Lipoprotein Lipase Deficiency

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

71 (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:

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
11.67 APOA1 APOB APOE
6 11.56 APOA1 APOC3 LPL PLTP
7
Show member pathways
11.28 APOA1 APOB PNLIP
8
Show member pathways
11.06 APOA1 APOB APOC3 APOE CETP LCAT
9 11.02 APOA1 APOC3 PLTP
10 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 17)
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 9.84 APOA1 APOB APOC3 APOE
3 blood microparticle GO:0072562 9.83 APOA1 APOE C3 PON1
4 extracellular space GO:0005615 9.77 APOA1 APOB APOC3 APOE BTD C3
5 secretory granule lumen GO:0034774 9.74 APOA1 C3 INS
6 very-low-density lipoprotein particle GO:0034361 9.72 APOA1 APOB APOC3 APOE LPL
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 chylomicron GO:0042627 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 endosome lumen GO:0031904 9.56 APOB INS
13 extracellular matrix GO:0031012 9.55 APOE LPL
14 high-density lipoprotein particle GO:0034364 9.55 APOA1 APOE CETP LCAT PON1
15 extracellular region GO:0005576 9.5 APOA1 APOB APOC3 APOE BTD C3
16 discoidal high-density lipoprotein particle GO:0034365 9.21 APOA1
17 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 49)
id Name GO ID Score Top Affiliating Genes
1 lipid catabolic process GO:0016042 9.98 APOB APOC3 LPL PLA2G7 PNLIP
2 steroid metabolic process GO:0008202 9.97 APOA1 APOB APOE CETP LCAT
3 lipid transport GO:0006869 9.95 APOA1 APOB APOC3 APOE CETP LPA
4 retinoid metabolic process GO:0001523 9.91 APOA1 APOB APOC3 APOE LPL PNLIP
5 triglyceride metabolic process GO:0006641 9.89 APOC3 APOE CETP LPL
6 triglyceride homeostasis GO:0070328 9.89 APOA1 APOC3 APOE CETP LPL
7 cholesterol transport GO:0030301 9.87 APOA1 APOB CETP LCAT
8 cholesterol efflux GO:0033344 9.86 APOA1 APOB APOC3 APOE
9 lipoprotein metabolic process GO:0042157 9.85 APOA1 APOB APOC3 APOE
10 triglyceride catabolic process GO:0019433 9.85 APOA1 APOB APOC3 APOE LPL
11 chylomicron assembly GO:0034378 9.84 APOA1 APOB APOC3 APOE
12 phospholipid metabolic process GO:0006644 9.83 APOA1 LCAT LPL
13 very-low-density lipoprotein particle remodeling GO:0034372 9.81 APOE CETP LCAT LPL
14 positive regulation of cholesterol efflux GO:0010875 9.8 APOE PLTP PON1
15 phospholipid efflux GO:0033700 9.79 APOA1 APOC3 APOE
16 phosphatidylcholine metabolic process GO:0046470 9.79 CETP LCAT PON1
17 chylomicron remnant clearance GO:0034382 9.78 APOB APOC3 APOE
18 lipoprotein biosynthetic process GO:0042158 9.78 APOA1 APOB APOE LCAT
19 regulation of Cdc42 protein signal transduction GO:0032489 9.77 APOA1 APOC3 APOE
20 reverse cholesterol transport GO:0043691 9.77 APOA1 APOC3 APOE CETP LCAT
21 low-density lipoprotein particle remodeling GO:0034374 9.72 APOB APOE CETP LPA PLA2G7
22 lipid homeostasis GO:0055088 9.71 APOE CETP
23 artery morphogenesis GO:0048844 9.7 APOB APOE
24 positive regulation of nitric-oxide synthase activity GO:0051000 9.7 APOE INS
25 cholesterol homeostasis GO:0042632 9.7 APOA1 APOB APOC3 APOE CETP LCAT
26 negative regulation of lipid catabolic process GO:0050995 9.69 APOC3 INS
27 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.69 APOB LPL
28 high-density lipoprotein particle assembly GO:0034380 9.69 APOA1 APOE
29 fatty acid homeostasis GO:0055089 9.68 APOE INS
30 positive regulation of lipid biosynthetic process GO:0046889 9.68 APOE INS
31 positive regulation of lipid storage GO:0010884 9.68 APOB C3
32 very-low-density lipoprotein particle assembly GO:0034379 9.68 APOB APOC3
33 phospholipid homeostasis GO:0055091 9.67 APOA1 CETP
34 positive regulation of cholesterol esterification GO:0010873 9.67 APOA1 APOE
35 high-density lipoprotein particle clearance GO:0034384 9.67 APOA1 APOE
36 neuron projection regeneration GO:0031102 9.66 APOA1 APOE
37 positive regulation of cholesterol storage GO:0010886 9.65 APOB LPL
38 very-low-density lipoprotein particle clearance GO:0034447 9.65 APOB APOE
39 lipoprotein catabolic process GO:0042159 9.65 APOB APOE
40 chylomicron remodeling GO:0034371 9.65 APOA1 APOB APOC3 APOE LPL
41 phospholipid transport GO:0015914 9.64 APOA1 CETP
42 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.63 APOA1 APOC3
43 lipid metabolic process GO:0006629 9.44 APOA1 APOB APOC3 APOE C3 CETP
44 high-density lipoprotein particle remodeling GO:0034375 9.43 APOA1 APOC3 APOE CETP LCAT PLTP
45 positive regulation of dendritic spine maintenance GO:1902952 9.34 APOE
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 post-translational protein modification GO:0043687 10 APOA1 APOB APOE C3
49 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 lipid binding GO:0008289 9.8 APOA1 APOB APOC3 APOE CETP PLTP
2 heparin binding GO:0008201 9.78 APOB APOE LPA LPL
3 low-density lipoprotein particle receptor binding GO:0050750 9.56 APOB APOE
4 cholesterol binding GO:0015485 9.56 APOA1 APOC3 APOE CETP
5 triglyceride lipase activity GO:0004806 9.55 LPL PNLIP
6 apolipoprotein binding GO:0034185 9.54 LPA LPL
7 lipase inhibitor activity GO:0055102 9.52 APOA1 APOC3
8 lipoprotein particle binding GO:0071813 9.51 APOA1 APOE
9 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.49 APOA1 APOE
10 high-density lipoprotein particle receptor binding GO:0070653 9.46 APOA1 APOC3
11 cholesterol transporter activity GO:0017127 9.46 APOA1 APOB APOE CETP
12 triglyceride binding GO:0017129 9.43 CETP LPL
13 phospholipid binding GO:0005543 9.43 APOA1 APOB APOC3 APOE PLA2G7 PON1
14 phosphatidylcholine binding GO:0031210 9.4 APOA1 CETP
15 phospholipid transporter activity GO:0005548 9.37 APOA1 CETP
16 lipid transporter activity GO:0005319 8.92 APOA1 APOB APOE CETP

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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