MCID: FML026
MIFTS: 51

Familial Lipoprotein Lipase Deficiency

Categories: Endocrine diseases, Genetic 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 52 25 58 15
Familial Lpl Deficiency 12 24 52 25
Familial Fat-Induced Hypertriglyceridemia 52 25
Lipoprotein Lipase Deficiency, Familial 52 25
Familial Hyperlipoproteinemia Type I 12 74
Endogenous Hypertriglyceridaemia 52 25
Familial Hyperchylomicronemia 52 25
Hyperlipoproteinemia Type I 25 71
Burger-Grutz Syndrome 52 25
Hyperchylomicronemia 12 74
Lipase D Deficiency 52 25
Lipd Deficiency 52 25
Lpl Deficiency 52 58
Fredrickson Type I Hyperlipoproteinemia 12
Hypercholesterinaemic Xanthomatosis 12
Familial Chylomicronemia Syndrome 12
Lipoprotein Lipase Deficiency 52
Hyperlipoproteinemia Type Ia 25
Fredrickson Type I Lipaemia 12
Type I Hyperlipoproteinemia 52
Mixed Hyperglyceridemia 12

Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:14118
ICD9CM 34 272.3
MeSH 43 D008072
NCIt 49 C84771
SNOMED-CT 67 275598004
ICD10 32 E78.3
ICD10 via Orphanet 33 E78.3
UMLS via Orphanet 72 C0023817
Orphanet 58 ORPHA309015
UMLS 71 C0023817

Summaries for Familial Lipoprotein Lipase Deficiency

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. People with familial lipoprotein lipase deficiency typically develop signs and symptoms before age 10, with one-quarter showing symptoms by age 1. The first symptom of this condition is usually abdominal pain, which can vary from mild to severe. The abdominal pain is often due to inflammation of the pancreas (pancreatitis). These episodes of pancreatitis begin as sudden (acute) attacks. If left untreated, pancreatitis can develop into a chronic condition that can damage the pancreas and, in rare cases, be life-threatening. Affected individuals may also have an enlarged liver and spleen (hepatosplenomegaly). The higher the levels of fat in the body, the larger the liver and spleen become. As fat levels rise, certain white blood cells called macrophages take in excess fat in an attempt to rid fat from the bloodstream. After taking in fat, the macrophages travel to the liver and spleen, where the fatty cells accumulate. Approximately half of individuals with familial lipoprotein lipase deficiency develop small yellow deposits of fat under the skin called eruptive xanthomas. These fat deposits most commonly appear on the trunk, buttocks, knees, and arms. Eruptive xanthomas are small (about 1 millimeter in diameter), but individual xanthomas can cluster together to form larger patches. They are generally not painful unless exposed to repeated friction or abrasion. Eruptive xanthomas begin to appear when fat intake increases and levels rise; the deposits disappear when fat intake slows and levels decrease. The blood of people with familial lipoprotein lipase deficiency can have a milky appearance due to its high fat content. When fat levels get very high in people with this condition, fats can accumulate in blood vessels in the tissue that lines the back of the eye (the retina). The fat buildup gives this tissue a pale pink appearance when examined (lipemia retinalis). This fat accumulation does not affect vision and will disappear once fats from the diet are reduced and levels in the body decrease. In people with familial lipoprotein lipase deficiency, increased fat levels can also cause neurological features, such as depression, memory loss, and mild intellectual decline (dementia). These problems are remedied when dietary fat levels normalize.

MalaCards based summary : Familial Lipoprotein Lipase Deficiency, also known as familial lpl deficiency, is related to apolipoprotein c-ii deficiency and lipase deficiency, combined. 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 Fosamprenavir and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, spleen and liver, and related phenotypes are Decreased free cholesterol and Decreased LDL uptake

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.

NIH Rare Diseases : 52 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.

Wikipedia : 74 Hyperlipidemia is abnormally elevated levels of any or all lipids or lipoproteins in the blood.... 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 top 50) (show all 135)
# Related Disease Score Top Affiliating Genes
1 apolipoprotein c-ii deficiency 32.6 LPL GPIHBP1 APOC2
2 lipase deficiency, combined 32.2 PNLIP LPL LMF1 LIPC GPIHBP1
3 familial apolipoprotein c-ii deficiency 31.7 LPL LMF1 GPIHBP1 APOC3 APOC2
4 hyperlipoproteinemia, type v 31.4 LPL APOE APOC3 APOC2 APOB APOA5
5 acute pancreatitis 30.4 PNLIP LPL APOC2
6 pancreatitis 30.1 PNLIP LPL LMF1 APOC2 APOA5
7 xanthomatosis 29.9 LPL APOE APOB
8 lecithin:cholesterol acyltransferase deficiency 29.4 LPL APOE APOB APOA1
9 arteriosclerosis 29.4 LPL APOE APOB APOA1
10 hypercholesterolemia, familial, 1 29.3 LPL LIPC APOE APOB APOA1
11 homozygous familial hypercholesterolemia 29.2 LIPC APOE APOB APOA1
12 lipid metabolism disorder 28.9 LPL LIPC APOE APOC3 APOB APOA5
13 hypothyroidism 28.9 LPL LIPC APOE APOB APOA1
14 chronic kidney disease 28.9 LPL LIPC APOE APOB APOA1
15 hyperlipoproteinemia, type iii 28.6 LPL LIPC APOE APOB APOA5 APOA1
16 coronary heart disease 1 28.6 LPL LIPC APOE APOC3 APOB APOA5
17 inherited metabolic disorder 28.6 LPL LIN9 APOE APOC3 APOB APOA1
18 hypertriglyceridemia, familial 28.5 LPL LIPC APOE APOC3 APOC2 APOB
19 hyperlipidemia, familial combined, 3 28.3 LPL LIPC APOE APOC3 APOB APOA5
20 vascular disease 28.3 LPL LIPC APOE APOC3 APOC2 APOB
21 cardiovascular system disease 28.2 LPL LIPC APOE APOC3 APOB APOA5
22 familial hyperlipidemia 27.9 PNLIP LPL LIPC APOE APOC3 APOC2
23 atherosclerosis susceptibility 27.9 LPL LIPC APOE APOC3 APOB APOA1
24 hypolipoproteinemia 27.9 LPL APOE APOC3 APOC2 APOB APOA1
25 diabetes mellitus 27.7 PNLIP LPL LIPC APOE APOC3 APOC2
26 familial hypercholesterolemia 27.6 LPL LIPC APOE APOC3 APOB APOA5
27 body mass index quantitative trait locus 11 26.9 PNLIP LPL LIPC LIN9 APOE APOC3
28 diabetes mellitus, noninsulin-dependent 26.6 PNLIP LPL LIPC LIN9 APOE APOC3
29 hyperlipoproteinemia, type i 26.2 PNLIP LPL LMF1 LIPC LIN9 GPIHBP1
30 hyperlipoproteinemia, type id 11.3
31 familial chylomicronemia due to inhibition of lipoprotein lipase activity 11.3
32 familial apolipoprotein a5 deficiency 11.3
33 apolipoprotein c-iii deficiency 10.3 LPL APOC3
34 cholesterol ester storage disease 10.2 GPIHBP1 APOB
35 xanthoma disseminatum 10.2 APOE APOB
36 hypercholesterolemia, familial, 2 10.2 APOE APOB
37 defective apolipoprotein b-100 10.1 APOE APOB
38 lipoprotein glomerulopathy 10.1 APOE APOB
39 huntington disease-like 2 10.1
40 alcohol use disorder 10.1
41 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.1
42 generalized atherosclerosis 10.1 APOE APOB
43 silent myocardial infarction 10.1 APOB APOA1
44 lysosomal and lipase deficiency 10.1 LIN9 APOB
45 systemic lupus erythematosus 10.1
46 arcus corneae 10.1 APOB APOA1
47 myeloma, multiple 10.0
48 ocular motor apraxia 10.0
49 cyanosis, transient neonatal 10.0
50 exanthem 10.0

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 8.65 LIPC
2 Decreased LDL uptake GR00340-A-1 8.32 LPL

MGI Mouse Phenotypes related to Familial Lipoprotein Lipase Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 ANGPTL3 ANGPTL4 APOA1 APOA5 APOB APOC2
2 liver/biliary system MP:0005370 9.17 ANGPTL3 APOA1 APOB APOE LMF1 LPL

Drugs & Therapeutics for Familial Lipoprotein Lipase Deficiency

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fosamprenavir Approved Phase 3 226700-79-4 131536
2 Gastrointestinal Agents Phase 2, Phase 3
3 Antiemetics Phase 2, Phase 3
4 Neuroprotective Agents Phase 2, Phase 3
5 Protective Agents Phase 2, Phase 3
6
Tocopherol Approved, Investigational Phase 1, Phase 2 1406-66-2, 54-28-4 14986
7
Orlistat Approved, Investigational Phase 2 96829-58-2 3034010
8
Vitamin E Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-02-9 14985
9 Tocotrienol Investigational Phase 1, Phase 2 6829-55-6
10 Vitamins Phase 1, Phase 2
11 Omega 3 Fatty Acid Phase 1, Phase 2
12 Sunflower Phase 1, Phase 2
13 Tocotrienols Phase 1, Phase 2
14 Tocopherols Phase 1, Phase 2
15 Anti-Obesity Agents Phase 2
16 Lipid Regulating Agents Phase 2
17
Heparin Approved, Investigational 9005-49-6 46507594 772
18 Fibrinolytic Agents
19 Anticoagulants
20 calcium heparin

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 A Study to Determine the Safety and Efficacy in Lipoprotein Lipase-Deficient Subjects After Intramuscular Administration of AMT-011, an Adeno-Associated Viral Vector Expressing Human Lipoprotein LipaseS447X Unknown status NCT01109498 Phase 2, Phase 3 Mycophenolate mofetil;cyclosporine
2 An Open-label Study to Assess the Efficacy and Safety of Alipogene Tiparvovec (AMT-011), Human LPL [S447X], Expressed by an Adeno-Associated Viral Vector After Intramuscular Administration in LPL-deficient Adult Subjects Completed NCT00891306 Phase 2, Phase 3 mycophenolate mofetil;cyclosporine;methylprednisolone
3 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study of ISIS 304801 Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Completed NCT02211209 Phase 3 Volanesorsen;Placebo
4 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
5 ISIS 304801-CS7 The APPROACH Open Label Study Volanesorsen (ISIS 304801) An Open-Label Study of Volanesorsen Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Active, not recruiting NCT02658175 Phase 3 Volanesorsen
6 An Open Label, 52-week, Safety and Tolerability Extension to a Randomized, Double-blind, Placebo Controlled Study of LCQ908 in Subjects With Familial Chylomicronemia Syndrome. Terminated NCT01589237 Phase 3 LCQ908
7 Impact of n-3 Fatty Acid Supplementation on the Metabolic Abnormalities in Children With NAFLD Unknown status NCT02201160 Phase 1, Phase 2
8 A Phase 2 Open-Label Study to Assess the Pharmacodynamics, Pharmacokinetics, Safety and Tolerability of AKCEA-ANGPTL3-LRX (ISIS 703802) Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Completed NCT03360747 Phase 2 AKCEA-ANGPTL3-LRX
9 A Phase 2 Pilot Study to Assess the Safety and Efficacy of CAT-2003 in Patients With Chylomicronemia Completed NCT02098278 Phase 2 CAT-2003;Placebo
10 A Multiple-dose, Parallel Group Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of LCQ908 in Patients With Severe Hypertriglyceridemia and Chylomicronemia (Phenotypes I and V) Completed NCT01146522 Phase 1, Phase 2 LCQ908;Placebo
11 Orlistat for the Treatment of Type I Hyperlipoproteinemia Active, not recruiting NCT02767531 Phase 2 Orlistat
12 Phase 2 Study of Orlistat and SLx-4090 for Teh Treatment of Type 1 Hyperlipoproteinemia Active, not recruiting NCT01675154 Phase 2 SLx-4090 placebo;Orlistat Placebo;Orlistat;Slx-4090
13 An Open Label, Multi-centre Trial of Alipogene Tiparvovec for the Treatment of LPLD Patients Withdrawn NCT02904772 Phase 2 alipogene tiparvovec;Prednisolone;Cyclosporins;Mycophenolate mofetil
14 A Phase 1 Single and Multiple Dose-Escalating Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamic Effects of ARO-APOC3 in Adult Healthy Volunteers as Well as in Severely Hypertriglyceridemic Patients and Patients With Familial Chylomicronemia Syndrome Recruiting NCT03783377 Phase 1 ARO-APOC3;sterile normal saline (0.9% NaCl)
15 A Clinical Records Review Study of the Frequency and Severity of Acute Abdominal "Pancreatitis" Episodes Reported From LPLD Subjects Previously Recruited to Clinical Studies PREPARATION-02, CT-AMT-011-01 and CT-AMT-011-02 Unknown status NCT01448577
16 Lipoprotein Lipase Enzyme Activity Assay Validation and Clinical Assessment Completed NCT02656095 Heparin
17 Medical Complications in Familial and Multifactorial Chylomicronaemia Syndromes From a 10 Year Follow-up Linking Datasets Between Patient Medical Records and Patient Claims: the ESTHYM Study Completed NCT03912181
18 InFocus France Epidemiological Study of Health Burden in Major Hypertriglyceridemia Completed NCT04223908
19 Postprandial Fatty Acid Metabolism in Subjects With Lipoprotein Lipase Deficiency Recruiting NCT04227678 Heparin
20 Effect of Low-Fat Compared to Low-Carbohydrate Diet on Fasting Lipids and Metabolic Profile in Subjects With Multifactorial Chylomicronemia: A Randomized Crossover Study Recruiting NCT03898609
21 Glybera Registry, Long-term Safety and Efficacy Follow-up in Lipoprotein Lipase Deficient (LPLD) Patients Treated With Alipogene Tiparvovec (GLYBERA®) Active, not recruiting NCT03293810
22 BioHoFH - Biomarker for Homozygous Familial Hypercholesterolemia AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT03198897
23 Volanesorsen (ISIS 304801) Early Access Program for Patients With Familial Chylomicronemia Syndrome (FCS) Available NCT03544060 Volanesorsen
24 Prospective, Non-interventional, Non-randomised, Open-label, Adult Study to Assess the Long Term Biological Therapeutic Response to Alipogene Tiparvovec in Lipoprotein Lipase Deficiency (LPLD) and Comparing Postprandial Chylomicron Metabolism Following a Radiolabeled Meal in LPLD Subjects Previously Treated With Alipogene Tiparvovec (Studies CT-AMT-011-01 or -02) to Untreated LPLD Subjects (Study PREPARATION-02) and to Healthy Volunteers Terminated NCT01447901

Search NIH Clinical Center for Familial Lipoprotein Lipase Deficiency

Genetic Tests for Familial Lipoprotein Lipase Deficiency

Anatomical Context for Familial Lipoprotein Lipase Deficiency

MalaCards organs/tissues related to Familial Lipoprotein Lipase Deficiency:

40
Skin, Spleen, Liver, Pancreas, Eye, Retina, Endothelial

Publications for Familial Lipoprotein Lipase Deficiency

Articles related to Familial Lipoprotein Lipase Deficiency:

(show top 50) (show all 95)
# Title Authors PMID Year
1
Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6. 61 24
11334614 2001
2
Autoantibodies against GPIHBP1 as a Cause of Hypertriglyceridemia. 24
28402248 2017
3
Diagnostic algorithm for familial chylomicronemia syndrome. 24
27998715 2017
4
Novel therapeutics in hypertriglyceridemia. 24
26780002 2015
5
Chylomicronaemia--current diagnosis and future therapies. 24
25732519 2015
6
Effect of the DGAT1 inhibitor pradigastat on triglyceride and apoB48 levels in patients with familial chylomicronemia syndrome. 24
25889044 2015
7
Apolipoprotein C-II Tuzla: a novel large deletion in APOC2 caused by Alu-Alu homologous recombination in an infant with apolipoprotein C-II deficiency. 24
25172036 2015
8
Targeting APOC3 in the familial chylomicronemia syndrome. 24
25470695 2014
9
The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management. 24
24731657 2014
10
Severe hypertriglyceridemia with pancreatitis: thirteen years' treatment with lomitapide. 24
24366202 2014
11
Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency. 24
24291057 2014
12
Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial. 24
22717743 2013
13
Chylomicronemia mutations yield new insights into interactions between lipoprotein lipase and GPIHBP1. 24
22493000 2012
14
Lipase maturation factor 1: a lipase chaperone involved in lipid metabolism. 24
22063272 2012
15
Diagnosis and treatment of severe hypertriglyceridemia. 24
22458582 2012
16
Diagnosis and management of type I and type V hyperlipoproteinemia. 24
22129523 2012
17
Apolipoprotein A-V; a potent triglyceride reducer. 24
21831376 2011
18
Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase. 24
19304573 2009
19
Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia. 24
17994020 2007
20
Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons. 24
17403372 2007
21
APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency. 24
16531747 2006
22
Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis. 24
16174715 2005
23
Potential of essential fatty acid deficiency with extremely low fat diet in lipoprotein lipase deficiency during pregnancy: A case report. 24
15610556 2004
24
Mutations in the lipoprotein lipase gene as a cause of hypertriglyceridemia and pancreatitis in Taiwan. 24
12883259 2003
25
Successful pregnancy outcome in a patient with severe chylomicronemia due to compound heterozygosity for mutant lipoprotein lipase. 24
11983347 2002
26
Molecular pathobiology of the human lipoprotein lipase gene. 24
8843465 1996
27
Severe hypertriglyceridemia: role of familial and acquired disorders. 24
6827992 1983
28
Chylomicronemia syndrome in diabetes mellitus. 24
7344882 1981
29
Hyperlipidemic dementia. 24
4834546 1974
30
We FRET so You Don't Have To: New Models of the Lipoprotein Lipase Dimer. 61
29303250 2018
31
Severe hypertriglyceridemia in Japan: Differences in causes and therapeutic responses. 61
28958672 2017
32
Biochemical Analysis of the Lipoprotein Lipase Truncation Variant, LPLS447X, Reveals Increased Lipoprotein Uptake. 61
27984852 2017
33
[Familial hypertriglyceridemia: biochemical, clinical and molecular study in a Moroccan family]. 61
26104879 2015
34
Alipogene tiparvovec: a review of its use in adults with familial lipoprotein lipase deficiency. 61
25559420 2015
35
Metabolic surgery for the treatment of hypertriglyceridemia-related pancreatitis due to familial lipoprotein lipase deficiency. 61
24680758 2014
36
Safety profile of recombinant adeno-associated viral vectors: focus on alipogene tiparvovec (Glybera®). 61
24308784 2014
37
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. 61
23761384 2013
38
Apolipoprotein B-100-containing lipoprotein metabolism in subjects with lipoprotein lipase gene mutations. 61
22095987 2012
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. 61
20072945 2009
40
Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations. 61
18275685 2008
41
[Familial lipoprotein lipase deficiency]. 61
17824045 2007
42
Familial chylomicronemia syndrome. 61
15758547 2005
43
Missense mutation W86R in exon 3 of the lipoprotein lipase gene in a boy with chylomicronemia. 61
15115692 2004
44
[Chylomicronemia syndrome]. 61
11905095 2002
45
Deceptive hyperbilirubinaemia in a newborn with familial lipoprotein lipase deficiency. 61
11468054 2001
46
[Chylomicronemia syndrome in 45 years old man]. 61
11865593 2001
47
[Familial lipoprotein lipase deficiency]. 61
11347061 2001
48
Severe hypercholesterolemia in a double heterozygote for lipoprotein lipase deficiency (LPL(Arita)) and apolipoprotein epsilon4: a report of a family with LPL(Arita). 61
11403097 2001
49
A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency. 61
11068186 2000
50
Concentrations of electrophoretic and size subclasses of apolipoprotein A-I-containing particles in human peripheral lymph. 61
10978262 2000

Variations for Familial Lipoprotein Lipase Deficiency

ClinVar genetic disease variations for Familial Lipoprotein Lipase Deficiency:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LPL NM_000237.3(LPL):c.106G>A (p.Asp36Asn)SNV Benign/Likely benign, other 1552 rs1801177 8:19805708-19805708 8:19948197-19948197
2 LPL NM_000237.3(LPL):c.1334G>A (p.Cys445Tyr)SNV Pathogenic 1553 rs118204079 8:19819637-19819637 8:19962126-19962126
3 LPL NM_000237.3(LPL):c.755T>C (p.Ile252Thr)SNV Pathogenic 1554 rs118204080 8:19811844-19811844 8:19954333-19954333
4 LPL NM_000237.3(LPL):c.987C>A (p.Tyr329Ter)SNV Pathogenic 1556 rs118204081 8:19813563-19813563 8:19956052-19956052
5 LPL NM_000237.3(LPL):c.798C>G (p.Cys266Trp)SNV Pathogenic 1557 rs118204082 8:19813374-19813374 8:19955863-19955863
6 LPL LPL, 1-BP DEL, CODON 172deletion Pathogenic 1558
7 LPL NM_000237.3(LPL):c.607G>A (p.Ala203Thr)SNV Pathogenic 1519 rs118204056 8:19811696-19811696 8:19954185-19954185
8 LPL LPL, INSinsertion Pathogenic 1520
9 LPL nsv513798duplication Pathogenic 1521
10 LPL NM_000237.3(LPL):c.644G>A (p.Gly215Glu)SNV Pathogenic 1522 rs118204057 8:19811733-19811733 8:19954222-19954222
11 LPL LPL, 6-KB DELdeletion Pathogenic 1523
12 LPL NM_000237.3(LPL):c.397C>T (p.Gln133Ter)SNV Pathogenic 1524 rs118204058 8:19809427-19809427 8:19951916-19951916
13 LPL NM_000237.3(LPL):c.811T>A (p.Ser271Thr)SNV Pathogenic 1525 rs118204059 8:19813387-19813387 8:19955876-19955876
14 LPL NM_000237.3(LPL):c.250-1G>ASNV Pathogenic 1526 rs1563572716 8:19809279-19809279 8:19951768-19951768
15 LPL NM_000237.3(LPL):c.701C>T (p.Pro234Leu)SNV Pathogenic 1527 rs118204060 8:19811790-19811790 8:19954279-19954279
16 LPL NM_000237.3(LPL):c.693C>G (p.Asp231Glu)SNV Pathogenic 1528 rs118204067 8:19811782-19811782 8:19954271-19954271
17 LPL NM_000237.3(LPL):c.662T>C (p.Ile221Thr)SNV Pathogenic 1529 rs118204061 8:19811751-19811751 8:19954240-19954240
18 LPL NM_000237.3(LPL):c.809G>A (p.Arg270His)SNV Pathogenic 1530 rs118204062 8:19813385-19813385 8:19955874-19955874
19 LPL NM_000237.3(LPL):c.300C>A (p.Tyr100Ter)SNV Pathogenic 1531 rs118204074 8:19809330-19809330 8:19951819-19951819
20 LPL NM_000237.3(LPL):c.506G>A (p.Gly169Glu)SNV Pathogenic 1532 rs118204063 8:19810897-19810897 8:19953386-19953386
21 LPL NM_000237.3(LPL):c.548A>G (p.Asp183Gly)SNV Pathogenic 1533 rs118204064 8:19811637-19811637 8:19954126-19954126
22 LPL NM_000237.3(LPL):c.249+1G>ASNV Pathogenic 1535 rs1563569634 8:19805852-19805852 8:19948341-19948341
23 LPL NM_000237.3(LPL):c.264T>A (p.Tyr88Ter)SNV Pathogenic 1536 rs118204065 8:19809294-19809294 8:19951783-19951783
24 LPL NM_000237.3(LPL):c.1227G>A (p.Trp409Ter)SNV Pathogenic 1537 rs118204066 8:19818499-19818499 8:19960988-19960988
25 LPL NM_000237.3(LPL):c.742del (p.Ala248fs)deletion Pathogenic 1538 rs1563575252 8:19811831-19811831 8:19954320-19954320
26 LPL NM_000237.3(LPL):c.829G>A (p.Asp277Asn)SNV Pathogenic 1539 rs118204068 8:19813405-19813405 8:19955894-19955894
27 LPL NM_000237.3(LPL):c.337T>C (p.Trp113Arg)SNV Pathogenic 1540 rs118204069 8:19809367-19809367 8:19951856-19951856
28 LPL NM_000237.3(LPL):c.272G>A (p.Trp91Ter)SNV Pathogenic 1541 rs118204070 8:19809302-19809302 8:19951791-19951791
29 LPL NM_000237.3(LPL):c.88+1G>CSNV Pathogenic 1542 rs766134215 8:19797040-19797040 8:19939529-19939529
30 LPL NM_000237.3(LPL):c.1081G>A (p.Ala361Thr)SNV Pathogenic 1543 rs118204071 8:19816833-19816833 8:19959322-19959322
31 LPL NM_000237.3(LPL):c.596C>G (p.Ser199Cys)SNV Pathogenic 1544 rs118204072 8:19811685-19811685 8:19954174-19954174
32 LPL NM_000237.3(LPL):c.306A>C (p.Arg102Ser)SNV Pathogenic 1545 rs118204073 8:19809336-19809336 8:19951825-19951825
33 LPL NM_000237.3(LPL):c.665G>A (p.Gly222Glu)SNV Pathogenic 1546 rs118204075 8:19811754-19811754 8:19954243-19954243
34 LPL NM_000237.3(LPL):c.621C>G (p.Asp207Glu)SNV Pathogenic 1547 rs118204076 8:19811710-19811710 8:19954199-19954199
35 LPL NM_000237.3(LPL):c.808C>T (p.Arg270Cys)SNV Pathogenic 1548 rs118204077 8:19813384-19813384 8:19955873-19955873
36 LPL NM_000237.3(LPL):c.1174C>G (p.Leu392Val)SNV Pathogenic 1551 rs118204078 8:19818446-19818446 8:19960935-19960935
37 LPL NM_000237.3(LPL):c.797G>A (p.Cys266Tyr)SNV Likely pathogenic 522719 rs1554517725 8:19813373-19813373 8:19955862-19955862
38 LPL NM_000237.3(LPL):c.928T>C (p.Cys310Arg)SNV Likely pathogenic 226449 rs886037774 8:19813504-19813504 8:19955993-19955993
39 LPL NM_000237.3(LPL):c.1187A>T (p.Glu396Val)SNV Likely pathogenic 226450 rs886037775 8:19818459-19818459 8:19960948-19960948
40 LPL NM_000237.3(LPL):c.786G>A (p.Gln262=)SNV Conflicting interpretations of pathogenicity 362412 rs140986245 8:19813362-19813362 8:19955851-19955851
41 LPL NM_000237.3(LPL):c.1136C>T (p.Thr379Ile)SNV Conflicting interpretations of pathogenicity 495742 rs76708715 8:19816888-19816888 8:19959377-19959377
42 LPL NM_000237.3(LPL):c.345A>C (p.Ser115=)SNV Conflicting interpretations of pathogenicity 719805 8:19809375-19809375 8:19951864-19951864
43 LPL NM_000237.3(LPL):c.953A>G (p.Asn318Ser)SNV Conflicting interpretations of pathogenicity 1550 rs268 8:19813529-19813529 8:19956018-19956018
44 LPL NM_000237.3(LPL):c.290C>T (p.Ala97Val)SNV Conflicting interpretations of pathogenicity 723310 8:19809320-19809320 8:19951809-19951809
45 LPL NM_000237.3(LPL):c.528C>G (p.Val176=)SNV Conflicting interpretations of pathogenicity 747870 8:19810919-19810919 8:19953408-19953408
46 LPL NM_000237.3(LPL):c.687T>C (p.His229=)SNV Conflicting interpretations of pathogenicity 742198 8:19811776-19811776 8:19954265-19954265
47 LPL NM_000237.3(LPL):c.112G>A (p.Glu38Lys)SNV Conflicting interpretations of pathogenicity 755163 8:19805714-19805714 8:19948203-19948203
48 LPL NM_000237.3(LPL):c.189C>T (p.Ser63=)SNV Conflicting interpretations of pathogenicity 764668 8:19805791-19805791 8:19948280-19948280
49 LPL NM_000237.3(LPL):c.1325T>G (p.Val442Gly)SNV Conflicting interpretations of pathogenicity 766071 8:19819628-19819628 8:19962117-19962117
50 LPL NM_000237.3(LPL):c.-101C>TSNV Uncertain significance 911585 8:19796851-19796851 8:19939340-19939340

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 PNLIP LPL LMF1 LIPC GPIHBP1 APOE
2
Show member pathways
12.47 PNLIP LPL GPIHBP1 APOE APOC3 APOC2
3
Show member pathways
12.09 PNLIP LPL GPIHBP1 APOE APOC3 APOC2
4
Show member pathways
11.97 PNLIP LPL LMF1 LIPC GPIHBP1 APOE
5 11.8 APOE APOA5 APOA1
6
Show member pathways
11.73 LPL LIPC APOE APOC3 APOC2 APOB
7
Show member pathways
11.7 APOE APOB APOA1
8 11.61 LPL APOC3 APOA5 APOA1 ANGPTL4
9 11.44 PNLIP LPL LIPC
10
Show member pathways
11.3 PNLIP APOB APOA1
11 11.02 APOC3 APOA5 APOA1
12 10.96 PNLIP APOB APOA1
13 10.54 PNLIP LIPC

GO Terms for Familial Lipoprotein Lipase Deficiency

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.18 PNLIP LPL LIPC GPIHBP1 APOE APOC3
2 extracellular space GO:0005615 10.17 PNLIP LPL LIPC APOE APOC3 APOC2
3 collagen-containing extracellular matrix GO:0062023 9.92 APOE APOC3 APOA1 ANGPTL4 ANGPTL3
4 early endosome GO:0005769 9.91 APOE APOC3 APOC2 APOB APOA5 APOA1
5 endoplasmic reticulum lumen GO:0005788 9.89 LIPC APOE APOB APOA5 APOA1
6 high-density lipoprotein particle GO:0034364 9.73 LIPC APOE APOC2 APOB APOA5 APOA1
7 low-density lipoprotein particle GO:0034362 9.72 APOE APOC2 APOB APOA5 APOA1
8 blood microparticle GO:0072562 9.71 APOE APOA1 ANGPTL4
9 endocytic vesicle lumen GO:0071682 9.65 APOE APOB APOA1
10 spherical high-density lipoprotein particle GO:0034366 9.63 APOC3 APOC2 APOA1
11 clathrin-coated endocytic vesicle membrane GO:0030669 9.55 APOE APOB
12 intermediate-density lipoprotein particle GO:0034363 9.55 APOE APOC3 APOC2 APOB APOA1
13 discoidal high-density lipoprotein particle GO:0034365 9.51 APOE APOA1
14 chylomicron GO:0042627 9.5 LPL APOE APOC3 APOC2 APOB APOA5
15 very-low-density lipoprotein particle GO:0034361 9.17 LPL APOE APOC3 APOC2 APOB APOA5

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

(show top 50) (show all 62)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.21 PNLIP LPL LIPC APOE APOC3 APOC2
2 lipid transport GO:0006869 10.06 APOE APOC3 APOC2 APOB APOA5 APOA1
3 lipid catabolic process GO:0016042 10.05 PNLIP LPL LIPC APOC3 APOC2 APOB
4 post-translational protein modification GO:0043687 10.02 APOE APOB APOA5 APOA1
5 cellular protein metabolic process GO:0044267 10 APOE APOB APOA5 APOA1
6 cholesterol metabolic process GO:0008203 9.99 LIPC APOE APOB APOA1 ANGPTL3
7 triglyceride metabolic process GO:0006641 9.97 LPL LMF1 APOE APOC3 APOA5
8 triglyceride catabolic process GO:0019433 9.96 LPL LIPC APOC3 APOB APOA5
9 lipoprotein metabolic process GO:0042157 9.95 APOE APOC3 APOB APOA5 APOA1
10 reverse cholesterol transport GO:0043691 9.93 LIPC APOE APOC3 APOC2 APOA1
11 high-density lipoprotein particle remodeling GO:0034375 9.92 LIPC APOE APOC3 APOC2 APOA1
12 receptor-mediated endocytosis GO:0006898 9.91 APOE APOB APOA1
13 steroid metabolic process GO:0008202 9.9 APOE APOB APOA1
14 positive regulation of lipoprotein lipase activity GO:0051006 9.89 LMF1 GPIHBP1 APOC2 APOA5 APOA1
15 regulation of lipid metabolic process GO:0019216 9.88 APOA5 APOA1 ANGPTL4
16 phospholipid metabolic process GO:0006644 9.88 LPL APOA1 ANGPTL3
17 phospholipid efflux GO:0033700 9.88 APOE APOC3 APOC2 APOA5 APOA1
18 cholesterol efflux GO:0033344 9.88 APOE APOC3 APOC2 APOB APOA5 APOA1
19 intermembrane lipid transfer GO:0120009 9.85 APOE APOB APOA1
20 chylomicron assembly GO:0034378 9.85 APOE APOC3 APOC2 APOB APOA1
21 chylomicron remnant clearance GO:0034382 9.85 LMF1 LIPC APOE APOC3 APOC2 APOB
22 artery morphogenesis GO:0048844 9.83 APOE APOB ANGPTL3
23 cholesterol transport GO:0030301 9.83 LIPC APOB APOA1
24 regulation of lipoprotein lipase activity GO:0051004 9.83 LPL LMF1 LIPC GPIHBP1 ANGPTL3
25 positive regulation of lipid biosynthetic process GO:0046889 9.82 APOE APOA5 APOA1
26 positive regulation of fatty acid biosynthetic process GO:0045723 9.82 APOC2 APOA5 APOA1
27 low-density lipoprotein particle remodeling GO:0034374 9.81 LIPC APOE APOB
28 high-density lipoprotein particle assembly GO:0034380 9.81 APOE APOA5 APOA1
29 high-density lipoprotein particle clearance GO:0034384 9.8 APOE APOC2 APOA1
30 positive regulation of triglyceride catabolic process GO:0010898 9.8 APOC2 APOA5 APOA1
31 very-low-density lipoprotein particle remodeling GO:0034372 9.8 LPL LIPC APOE APOC2 APOA5 APOA1
32 chylomicron remodeling GO:0034371 9.8 LPL GPIHBP1 APOE APOC3 APOC2 APOB
33 positive regulation of cholesterol esterification GO:0010873 9.79 APOE APOA5 APOA1
34 negative regulation of lipoprotein lipase activity GO:0051005 9.79 APOC3 ANGPTL4 ANGPTL3
35 regulation of Cdc42 protein signal transduction GO:0032489 9.78 APOE APOC3 APOA1
36 lipoprotein biosynthetic process GO:0042158 9.77 APOE APOB APOA1
37 retinoid metabolic process GO:0001523 9.76 PNLIP LPL GPIHBP1 APOE APOC3 APOC2
38 lipid storage GO:0019915 9.73 APOA1 ANGPTL3
39 positive regulation of cholesterol efflux GO:0010875 9.73 APOE APOA1
40 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 LPL APOB
41 phosphatidylcholine metabolic process GO:0046470 9.72 APOA5 APOA1
42 lipoprotein transport GO:0042953 9.72 APOC2 APOB
43 regulation of cholesterol metabolic process GO:0090181 9.72 LMF1 APOE
44 positive regulation of lipid storage GO:0010884 9.71 LPL APOB
45 phospholipid homeostasis GO:0055091 9.71 APOA1 ANGPTL3
46 very-low-density lipoprotein particle assembly GO:0034379 9.71 APOC3 APOB
47 positive regulation of lipid catabolic process GO:0050996 9.71 APOA5 ANGPTL3
48 positive regulation of cholesterol storage GO:0010886 9.7 LPL APOB
49 negative regulation of receptor-mediated endocytosis GO:0048261 9.7 APOC3 APOC2
50 very-low-density lipoprotein particle clearance GO:0034447 9.69 APOE APOB

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.93 LPL APOE APOA1 ANGPTL4 ANGPTL3
2 lipid binding GO:0008289 9.88 GPIHBP1 APOE APOC3 APOC2 APOA5 APOA1
3 phospholipid binding GO:0005543 9.77 APOE APOC3 APOB APOA5 APOA1
4 cholesterol binding GO:0015485 9.74 APOC3 APOA5 APOA1
5 carboxylic ester hydrolase activity GO:0052689 9.73 PNLIP LPL LIPC
6 lipid transporter activity GO:0005319 9.69 APOE APOB APOA1
7 triglyceride lipase activity GO:0004806 9.67 PNLIP LPL LIPC
8 low-density lipoprotein particle receptor binding GO:0050750 9.65 APOE APOB APOA5
9 lipase activity GO:0016298 9.63 PNLIP LPL LIPC
10 phosphatidylcholine binding GO:0031210 9.62 APOA5 APOA1
11 phospholipase activity GO:0004620 9.62 LPL LIPC
12 apolipoprotein binding GO:0034185 9.61 LPL LIPC
13 heparan sulfate proteoglycan binding GO:0043395 9.61 LPL APOE
14 intermembrane cholesterol transfer activity GO:0120020 9.61 APOE APOB APOA1
15 phospholipase A1 activity GO:0008970 9.6 LPL LIPC
16 phosphatidylserine 1-acylhydrolase activity GO:0052739 9.59 LPL LIPC
17 1-acyl-2-lysophosphatidylserine acylhydrolase activity GO:0052740 9.58 LPL LIPC
18 lipoprotein lipase activity GO:0004465 9.58 LPL LIPC
19 lipoprotein lipase activator activity GO:0060230 9.55 APOC2 APOA5
20 high-density lipoprotein particle receptor binding GO:0070653 9.52 APOC3 APOA1
21 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.5 APOE APOA5 APOA1
22 lipase inhibitor activity GO:0055102 9.43 APOC3 APOC2 APOA1
23 heparin binding GO:0008201 9.43 LPL LIPC APOE APOB APOA5 ANGPTL3
24 lipase binding GO:0035473 9.33 GPIHBP1 APOB APOA5
25 lipoprotein particle binding GO:0071813 8.92 LPL GPIHBP1 APOE APOA1

Sources for Familial Lipoprotein Lipase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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