MCID: FML026
MIFTS: 52

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 25 20 43 58 15
Familial Lpl Deficiency 12 25 20 43
Familial Fat-Induced Hypertriglyceridemia 20 43
Lipoprotein Lipase Deficiency, Familial 20 43
Familial Hyperlipoproteinemia Type I 12 73
Endogenous Hypertriglyceridaemia 20 43
Familial Hyperchylomicronemia 20 43
Hyperlipoproteinemia Type I 43 70
Burger-Grutz Syndrome 20 43
Hyperchylomicronemia 12 73
Lipase D Deficiency 20 43
Lipd Deficiency 20 43
Lpl Deficiency 20 58
Fredrickson Type I Hyperlipoproteinemia 12
Familial Hyperlipo-Proteinemia Type 1 6
Hypercholesterinaemic Xanthomatosis 12
Familial Chylomicronemia Syndrome 12
Lipoprotein Lipase Deficiency 20
Hyperlipoproteinemia Type Ia 43
Fredrickson Type I Lipaemia 12
Type I Hyperlipoproteinemia 20
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 44 D008072
NCIt 50 C84771
SNOMED-CT 67 34171006
ICD10 32 E78.3
ICD10 via Orphanet 33 E78.3
UMLS via Orphanet 71 C0023817
Orphanet 58 ORPHA309015
UMLS 70 C0023817

Summaries for Familial Lipoprotein Lipase Deficiency

MedlinePlus Genetics : 43 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 Neuroprotective Agents have been mentioned in the context of this disorder. Affiliated tissues include spleen, liver and pancreas, 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.

GARD : 20 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 : 73 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 132)
# Related Disease Score Top Affiliating Genes
1 apolipoprotein c-ii deficiency 32.1 LPL GPIHBP1 APOC2
2 lipase deficiency, combined 32.0 PNLIP LPL LMF1 LIPC GPIHBP1
3 hyperlipoproteinemia, type v 30.9 LPL APOE APOC3 APOC2 APOB APOA5
4 acute pancreatitis 30.6 PNLIP LPL APOC2
5 pancreatitis 30.2 PNLIP LPL LMF1 APOC2 APOA5
6 xanthomatosis 30.0 LPL APOE APOB
7 abdominal obesity-metabolic syndrome 1 29.9 LPL APOB APOA1
8 gallbladder disease 29.7 APOE APOB APOA1
9 hypercholesterolemia, familial, 1 29.6 LPL LIPC APOE APOB APOA1
10 lecithin:cholesterol acyltransferase deficiency 29.6 LPL APOE APOB APOA1
11 familial apolipoprotein c-ii deficiency 29.5 VLDLR PNLIP LPL LMF1 GPIHBP1 APOE
12 homozygous familial hypercholesterolemia 29.4 LIPC APOE APOB APOA1
13 lipid metabolism disorder 29.4 LPL LIPC APOE APOC3 APOB APOA5
14 inherited metabolic disorder 29.3 LPL APOE APOC3 APOB APOA1
15 non-alcoholic fatty liver disease 29.3 LPL APOE APOC3 APOB APOA1
16 chronic kidney disease 29.2 LPL LIPC APOE APOB APOA1
17 arteriosclerosis 29.2 APOE APOB APOA1
18 hypertriglyceridemia, familial 29.1 LPL LIPC APOE APOC3 APOC2 APOB
19 coronary heart disease 1 29.0 LPL LIPC APOE APOC3 APOB APOA5
20 lipoprotein quantitative trait locus 28.9 LPL LIPC APOE APOC3 APOB APOA5
21 hyperlipoproteinemia, type iii 28.8 LPL LIPC APOE APOC2 APOB APOA5
22 vascular disease 28.7 LPL LIPC APOE APOC3 APOC2 APOB
23 cardiovascular system disease 28.7 LPL LIPC APOE APOC3 APOB APOA5
24 hyperlipidemia, familial combined, 3 28.6 LPL LIPC APOE APOC3 APOC2 APOB
25 familial hyperlipidemia 28.5 PNLIP LPL LIPC APOE APOC3 APOC2
26 hypolipoproteinemia 28.5 LPL APOE APOC3 APOC2 APOB APOA1
27 nephrotic syndrome 28.4 LPL APOE APOB APOA1 ANGPTL4 ANGPTL3
28 atherosclerosis susceptibility 28.3 LPL LIPC APOE APOC3 APOB APOA1
29 familial hypercholesterolemia 28.3 LPL LIPC APOE APOC3 APOB APOA5
30 body mass index quantitative trait locus 11 28.1 PNLIP LPL LIPC APOE APOC3 APOB
31 hyperlipoproteinemia, type i 27.9 PNLIP LPL LMF1 LIPC GPIHBP1 APOE
32 diabetes mellitus 27.1 PNLIP LPL LIPC APOE APOC3 APOC2
33 hyperlipoproteinemia, type id 11.1
34 familial chylomicronemia due to inhibition of lipoprotein lipase activity 11.1
35 familial apolipoprotein a5 deficiency 11.1
36 apolipoprotein c-iii deficiency 10.2 LPL APOC3
37 cholesterol ester storage disease 10.2 PNLIP GPIHBP1
38 huntington disease-like 2 10.1
39 alcohol use disorder 10.1
40 xanthoma disseminatum 10.1 APOE APOB
41 defective apolipoprotein b-100 10.1 APOE APOB
42 systemic lupus erythematosus 10.1
43 hypercholesterolemia, familial, 2 10.1 APOE APOB
44 generalized atherosclerosis 10.1 APOE APOB
45 silent myocardial infarction 10.1 APOB APOA1
46 pancreatitis, hereditary 10.1
47 huntington disease-like 3 10.1
48 autosomal recessive disease 10.1
49 hyperinsulinism 10.1
50 splenomegaly 10.1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 ANGPTL3 ANGPTL4 APOA1 APOA5 APOB APOC2
2 adipose tissue MP:0005375 9.63 ANGPTL3 ANGPTL4 APOE LPL PNLIP VLDLR
3 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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fosamprenavir Approved Phase 3 226700-79-4 131536
2 Neuroprotective Agents Phase 2, Phase 3
3 Gastrointestinal Agents Phase 2, Phase 3
4 Antiemetics Phase 2, Phase 3
5 Protective Agents Phase 2, Phase 3
6
Orlistat Approved, Investigational Phase 2 96829-58-2 3034010
7 Lipid Regulating Agents Phase 2
8 Anti-Obesity Agents Phase 2
9
Heparin Approved, Investigational 9005-49-6 772 9812414
10 Anticoagulants
11 Fibrinolytic Agents
12 calcium heparin

Interventional clinical trials:

(show all 21)
# 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 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) Completed NCT02658175 Phase 3 Volanesorsen
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 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
6 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study of AKCEA-APOCIII-LRx Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Recruiting NCT04568434 Phase 3 AKCEA-APOCIII-LRx;Placebo
7 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
8 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
9 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
10 Orlistat for the Treatment of Type I Hyperlipoproteinemia Active, not recruiting NCT02767531 Phase 2 Orlistat
11 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
12 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 Completed NCT03783377 Phase 1 ARO-APOC3;sterile normal saline (0.9% NaCl)
13 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
14 Lipoprotein Lipase Enzyme Activity Assay Validation and Clinical Assessment Completed NCT02656095 Heparin
15 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
16 InFocus France Epidemiological Study of Health Burden in Major Hypertriglyceridemia Completed NCT04223908
17 Postprandial Fatty Acid Metabolism in Subjects With Lipoprotein Lipase Deficiency Recruiting NCT04227678 Heparin
18 Glybera Registry, Long-term Safety and Efficacy Follow-up in Lipoprotein Lipase Deficient (LPLD) Patients Treated With Alipogene Tiparvovec (GLYBERA®) Active, not recruiting NCT03293810
19 BioHoFH - Biomarker for Homozygous Familial Hypercholesterolemia AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT03198897
20 Volanesorsen (ISIS 304801) Early Access Program for Patients With Familial Chylomicronemia Syndrome (FCS) Available NCT03544060 Volanesorsen
21 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
Spleen, Liver, Pancreas, Eye, Retina, Skin, Endothelial

Publications for Familial Lipoprotein Lipase Deficiency

Articles related to Familial Lipoprotein Lipase Deficiency:

(show top 50) (show all 140)
# 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 25 6
11334614 2001
2
Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis. 25 6
16174715 2005
3
Apolipoprotein B-100-containing lipoprotein metabolism in subjects with lipoprotein lipase gene mutations. 6 61
22095987 2012
4
Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Québec. 61 6
1511985 1992
5
Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Québec. 61 6
1576758 1992
6
A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency. 61 6
1562620 1992
7
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. 61 6
1752947 1991
8
Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family. 6 61
1907278 1991
9
High-density lipoprotein subpopulation profiles in lipoprotein lipase and hepatic lipase deficiency. 6
27573733 2016
10
Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency. 6
27055971 2016
11
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia. 6
25966443 2015
12
Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650). 6
17717288 2007
13
Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutations. 6
16972177 2006
14
Combination of circulating antilipoprotein lipase (Anti-LPL) antibody and heterozygous S172 fsX179 mutation of LPL gene leading to chronic hyperchylomicronemia. 6
15840743 2005
15
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. 6
15877202 2005
16
Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys(239)-->Trp, associated with recurrent severe pancreatitis. 6
11134145 2000
17
Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)). 6
10735636 2000
18
Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event. 6
9714430 1998
19
A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase. 6
8858123 1996
20
The mutation Gly142-->Glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes. 6
8567671 1996
21
Lipoprotein lipase: role of intramolecular disulfide bonds in enzyme catalysis. 6
7818530 1995
22
A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity. 6
8135797 1994
23
Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries. 6
7906986 1994
24
A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia). 6
8288243 1993
25
Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes. 6
8325986 1993
26
Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene. 6
8486765 1993
27
Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene. 6
8099055 1993
28
A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia. 6
8096693 1993
29
Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization. 6
1400331 1992
30
A G----C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family. 6
1530621 1992
31
A missense mutation (Asp250----Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries. 6
1639392 1992
32
Trp64----nonsense mutation in the lipoprotein lipase gene. 6
1512512 1992
33
A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia. 6
1598907 1992
34
The molecular defects in lipoprotein lipase deficient patients. 6
1505655 1992
35
The lipoprotein lipase Gly188----Glu mutation in South Africans of Indian descent: evidence suggesting common origins and an increased frequency. 6
1351946 1992
36
Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript. 6
1737848 1992
37
A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians. 6
2038366 1991
38
Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin. 6
1674945 1991
39
Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene. 6
2010533 1991
40
Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia. 6
1872917 1991
41
Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome. 6
1702428 1991
42
Founder effect in familial hyperchylomicronemia among French Canadians of Quebec. 6
1937490 1991
43
Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene. 6
2121025 1990
44
Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation. 6
2394828 1990
45
A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries. 6
1975597 1990
46
Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene. 6
2349938 1990
47
Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176----Thr) leads to abnormal heparin binding and loss of enzymic activity. 6
2110364 1990
48
Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency. 6
1969408 1990
49
Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency. 6
2294743 1990
50
A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency. 6
2536938 1989

Variations for Familial Lipoprotein Lipase Deficiency

ClinVar genetic disease variations for Familial Lipoprotein Lipase Deficiency:

6 (show top 50) (show all 167)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LPL NM_000237.3(LPL):c.607G>A (p.Ala203Thr) SNV Pathogenic 1519 rs118204056 GRCh37: 8:19811696-19811696
GRCh38: 8:19954185-19954185
2 LPL NM_000237.3(LPL):c.397C>T (p.Gln133Ter) SNV Pathogenic 1524 rs118204058 GRCh37: 8:19809427-19809427
GRCh38: 8:19951916-19951916
3 LPL NM_000237.3(LPL):c.811T>A (p.Ser271Thr) SNV Pathogenic 1525 rs118204059 GRCh37: 8:19813387-19813387
GRCh38: 8:19955876-19955876
4 LPL NM_000237.3(LPL):c.250-1G>A SNV Pathogenic 1526 rs1563572716 GRCh37: 8:19809279-19809279
GRCh38: 8:19951768-19951768
5 LPL NM_000237.3(LPL):c.693C>G (p.Asp231Glu) SNV Pathogenic 1528 rs118204067 GRCh37: 8:19811782-19811782
GRCh38: 8:19954271-19954271
6 LPL NM_000237.3(LPL):c.300C>A (p.Tyr100Ter) SNV Pathogenic 1531 rs118204074 GRCh37: 8:19809330-19809330
GRCh38: 8:19951819-19951819
7 LPL NM_000237.3(LPL):c.506G>A (p.Gly169Glu) SNV Pathogenic 1532 rs118204063 GRCh37: 8:19810897-19810897
GRCh38: 8:19953386-19953386
8 LPL NM_000237.3(LPL):c.548A>G (p.Asp183Gly) SNV Pathogenic 1533 rs118204064 GRCh37: 8:19811637-19811637
GRCh38: 8:19954126-19954126
9 LPL NM_000237.3(LPL):c.249+1G>A SNV Pathogenic 1535 rs1563569634 GRCh37: 8:19805852-19805852
GRCh38: 8:19948341-19948341
10 LPL NM_000237.3(LPL):c.264T>A (p.Tyr88Ter) SNV Pathogenic 1536 rs118204065 GRCh37: 8:19809294-19809294
GRCh38: 8:19951783-19951783
11 LPL NM_000237.3(LPL):c.1227G>A (p.Trp409Ter) SNV Pathogenic 1537 rs118204066 GRCh37: 8:19818499-19818499
GRCh38: 8:19960988-19960988
12 LPL NM_000237.3(LPL):c.742del (p.Ala248fs) Deletion Pathogenic 1538 rs1563575252 GRCh37: 8:19811831-19811831
GRCh38: 8:19954320-19954320
13 LPL NM_000237.3(LPL):c.829G>A (p.Asp277Asn) SNV Pathogenic 1539 rs118204068 GRCh37: 8:19813405-19813405
GRCh38: 8:19955894-19955894
14 LPL NM_000237.3(LPL):c.272G>A (p.Trp91Ter) SNV Pathogenic 1541 rs118204070 GRCh37: 8:19809302-19809302
GRCh38: 8:19951791-19951791
15 LPL NM_000237.3(LPL):c.88+1G>C SNV Pathogenic 1542 rs766134215 GRCh37: 8:19797040-19797040
GRCh38: 8:19939529-19939529
16 LPL NM_000237.3(LPL):c.1081G>A (p.Ala361Thr) SNV Pathogenic 1543 rs118204071 GRCh37: 8:19816833-19816833
GRCh38: 8:19959322-19959322
17 LPL NM_000237.3(LPL):c.596C>G (p.Ser199Cys) SNV Pathogenic 1544 rs118204072 GRCh37: 8:19811685-19811685
GRCh38: 8:19954174-19954174
18 LPL NM_000237.3(LPL):c.306A>C (p.Arg102Ser) SNV Pathogenic 1545 rs118204073 GRCh37: 8:19809336-19809336
GRCh38: 8:19951825-19951825
19 LPL NM_000237.3(LPL):c.665G>A (p.Gly222Glu) SNV Pathogenic 1546 rs118204075 GRCh37: 8:19811754-19811754
GRCh38: 8:19954243-19954243
20 LPL NM_000237.3(LPL):c.621C>G (p.Asp207Glu) SNV Pathogenic 1547 rs118204076 GRCh37: 8:19811710-19811710
GRCh38: 8:19954199-19954199
21 LPL NM_000237.3(LPL):c.808C>T (p.Arg270Cys) SNV Pathogenic 1548 rs118204077 GRCh37: 8:19813384-19813384
GRCh38: 8:19955873-19955873
22 LPL NM_000237.3(LPL):c.1174C>G (p.Leu392Val) SNV Pathogenic 1551 rs118204078 GRCh37: 8:19818446-19818446
GRCh38: 8:19960935-19960935
23 LPL NM_000237.3(LPL):c.1334G>A (p.Cys445Tyr) SNV Pathogenic 1553 rs118204079 GRCh37: 8:19819637-19819637
GRCh38: 8:19962126-19962126
24 LPL NM_000237.3(LPL):c.755T>C (p.Ile252Thr) SNV Pathogenic 1554 rs118204080 GRCh37: 8:19811844-19811844
GRCh38: 8:19954333-19954333
25 LPL NM_000237.3(LPL):c.798C>G (p.Cys266Trp) SNV Pathogenic 1557 rs118204082 GRCh37: 8:19813374-19813374
GRCh38: 8:19955863-19955863
26 LPL LPL, INS Insertion Pathogenic 1520 GRCh37:
GRCh38:
27 LPL nsv513798 Duplication Pathogenic 1521 GRCh37:
GRCh38:
28 LPL LPL, 6-KB DEL Deletion Pathogenic 1523 GRCh37:
GRCh38:
29 LPL LPL, 1-BP DEL, CODON 172 Deletion Pathogenic 1558 GRCh37:
GRCh38:
30 LPL NM_000237.3(LPL):c.929G>A (p.Cys310Tyr) SNV Pathogenic 979021 rs1409123950 GRCh37: 8:19813505-19813505
GRCh38: 8:19955994-19955994
31 LPL NM_000237.3(LPL):c.701C>T (p.Pro234Leu) SNV Pathogenic 1527 rs118204060 GRCh37: 8:19811790-19811790
GRCh38: 8:19954279-19954279
32 LPL NM_000237.3(LPL):c.337T>C (p.Trp113Arg) SNV Pathogenic 1540 rs118204069 GRCh37: 8:19809367-19809367
GRCh38: 8:19951856-19951856
33 LPL NM_000237.3(LPL):c.644G>A (p.Gly215Glu) SNV Pathogenic 1522 rs118204057 GRCh37: 8:19811733-19811733
GRCh38: 8:19954222-19954222
34 LPL NM_000237.3(LPL):c.662T>C (p.Ile221Thr) SNV Pathogenic 1529 rs118204061 GRCh37: 8:19811751-19811751
GRCh38: 8:19954240-19954240
35 LPL NM_000237.3(LPL):c.809G>A (p.Arg270His) SNV Pathogenic 1530 rs118204062 GRCh37: 8:19813385-19813385
GRCh38: 8:19955874-19955874
36 LPL NM_000237.3(LPL):c.987C>A (p.Tyr329Ter) SNV Pathogenic 1556 rs118204081 GRCh37: 8:19813563-19813563
GRCh38: 8:19956052-19956052
37 LPL NM_000237.3(LPL):c.644G>A (p.Gly215Glu) SNV Pathogenic 1522 rs118204057 GRCh37: 8:19811733-19811733
GRCh38: 8:19954222-19954222
38 LPL NM_000237.3(LPL):c.1139+1G>A SNV Likely pathogenic 973587 GRCh37: 8:19816892-19816892
GRCh38: 8:19959381-19959381
39 LPL NM_000237.3(LPL):c.1160_1161insT (p.Lys387fs) Insertion Likely pathogenic 973588 GRCh37: 8:19818432-19818433
GRCh38: 8:19960921-19960922
40 LPL NM_000237.3(LPL):c.784C>T (p.Gln262Ter) SNV Likely pathogenic 523886 rs1297688787 GRCh37: 8:19813360-19813360
GRCh38: 8:19955849-19955849
41 LPL NM_000237.3(LPL):c.991A>G (p.Lys331Glu) SNV Likely pathogenic 1030690 GRCh37: 8:19813567-19813567
GRCh38: 8:19956056-19956056
42 LPL NM_000237.3(LPL):c.928T>C (p.Cys310Arg) SNV Likely pathogenic 226449 rs886037774 GRCh37: 8:19813504-19813504
GRCh38: 8:19955993-19955993
43 LPL NM_000237.3(LPL):c.1187A>T (p.Glu396Val) SNV Likely pathogenic 226450 rs886037775 GRCh37: 8:19818459-19818459
GRCh38: 8:19960948-19960948
44 LPL NM_000237.3(LPL):c.797G>A (p.Cys266Tyr) SNV Likely pathogenic 522719 rs1554517725 GRCh37: 8:19813373-19813373
GRCh38: 8:19955862-19955862
45 LPL NM_000237.3(LPL):c.998G>A (p.Arg333His) SNV Uncertain significance 632073 rs144466625 GRCh37: 8:19813574-19813574
GRCh38: 8:19956063-19956063
46 LPL NM_000237.3(LPL):c.36C>A (p.Ala12=) SNV Uncertain significance 908632 GRCh37: 8:19796987-19796987
GRCh38: 8:19939476-19939476
47 LPL NM_000237.3(LPL):c.81C>A (p.Ala27=) SNV Uncertain significance 908633 GRCh37: 8:19797032-19797032
GRCh38: 8:19939521-19939521
48 LPL NM_000237.3(LPL):c.112G>A (p.Glu38Lys) SNV Uncertain significance 755163 rs557015233 GRCh37: 8:19805714-19805714
GRCh38: 8:19948203-19948203
49 LPL NM_000237.3(LPL):c.134C>A (p.Thr45Asn) SNV Uncertain significance 908634 GRCh37: 8:19805736-19805736
GRCh38: 8:19948225-19948225
50 LPL NM_000237.3(LPL):c.249G>A (p.Thr83=) SNV Uncertain significance 908635 GRCh37: 8:19805851-19805851
GRCh38: 8:19948340-19948340

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
13.82 VLDLR PNLIP LPL LMF1 LIPC GPIHBP1
2
Show member pathways
12.46 PNLIP LPL GPIHBP1 APOE APOC3 APOC2
3
Show member pathways
12.09 PNLIP LPL GPIHBP1 APOE APOC3 APOC2
4
Show member pathways
12 VLDLR PNLIP LPL LMF1 LIPC GPIHBP1
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 11.65 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 10.15 VLDLR PNLIP LPL LIPC APOE APOC3
3 early endosome GO:0005769 9.98 APOE APOC3 APOC2 APOB APOA5 APOA1
4 collagen-containing extracellular matrix GO:0062023 9.91 APOE APOC3 APOA1 ANGPTL4 ANGPTL3
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 9.52 APOE APOA1
14 chylomicron GO:0042627 9.5 LPL APOE APOC3 APOC2 APOB APOA5
15 very-low-density lipoprotein particle GO:0034361 9.23 VLDLR LPL APOE APOC3 APOC2 APOB

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

(show top 50) (show all 60)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.11 VLDLR PNLIP LPL LIPC APOE APOC3
2 lipid transport GO:0006869 10.08 VLDLR APOE APOC3 APOC2 APOB APOA5
3 lipid catabolic process GO:0016042 10.07 PNLIP LPL LIPC APOC3 APOC2 APOB
4 cholesterol metabolic process GO:0008203 10.05 VLDLR LIPC APOE APOB APOA1 ANGPTL3
5 post-translational protein modification GO:0043687 10.02 APOE APOB APOA5 APOA1
6 cellular protein metabolic process GO:0044267 10 APOE APOB APOA5 APOA1
7 receptor-mediated endocytosis GO:0006898 9.98 VLDLR APOE APOB APOA1
8 steroid metabolic process GO:0008202 9.97 VLDLR APOE APOB APOA1
9 triglyceride metabolic process GO:0006641 9.97 LPL LMF1 APOE APOC3 APOA5
10 triglyceride catabolic process GO:0019433 9.96 LPL LIPC APOC3 APOB APOA5
11 lipoprotein metabolic process GO:0042157 9.95 APOE APOC3 APOB APOA5 APOA1
12 reverse cholesterol transport GO:0043691 9.92 LIPC APOE APOC3 APOC2 APOA1
13 high-density lipoprotein particle remodeling GO:0034375 9.91 LIPC APOE APOC3 APOC2 APOA1
14 regulation of lipid metabolic process GO:0019216 9.89 APOA5 APOA1 ANGPTL4
15 phospholipid efflux GO:0033700 9.89 APOE APOC3 APOC2 APOA5 APOA1
16 phospholipid metabolic process GO:0006644 9.88 LPL APOA1 ANGPTL3
17 positive regulation of lipoprotein lipase activity GO:0051006 9.88 GPIHBP1 APOC2 APOA5 APOA1
18 chylomicron assembly GO:0034378 9.88 APOE APOC3 APOC2 APOB APOA1
19 cholesterol efflux GO:0033344 9.88 APOE APOC3 APOC2 APOB APOA5 APOA1
20 intermembrane lipid transfer GO:0120009 9.85 APOE APOB APOA1
21 regulation of lipoprotein lipase activity GO:0051004 9.85 LPL LMF1 LIPC GPIHBP1 ANGPTL3
22 artery morphogenesis GO:0048844 9.83 APOE APOB ANGPTL3
23 cholesterol transport GO:0030301 9.83 LIPC APOB APOA1
24 positive regulation of lipid biosynthetic process GO:0046889 9.83 APOE APOA5 APOA1
25 chylomicron remnant clearance GO:0034382 9.83 LIPC APOE APOC3 APOC2 APOB
26 low-density lipoprotein particle remodeling GO:0034374 9.82 LIPC APOE APOB
27 positive regulation of fatty acid biosynthetic process GO:0045723 9.82 APOC2 APOA5 APOA1
28 high-density lipoprotein particle assembly GO:0034380 9.81 APOE APOA5 APOA1
29 high-density lipoprotein particle clearance GO:0034384 9.81 APOE APOC2 APOA1
30 positive regulation of triglyceride catabolic process GO:0010898 9.8 APOC2 APOA5 APOA1
31 positive regulation of cholesterol esterification GO:0010873 9.8 APOE APOA5 APOA1
32 very-low-density lipoprotein particle remodeling GO:0034372 9.8 LPL LIPC APOE APOC2 APOA5 APOA1
33 chylomicron remodeling GO:0034371 9.8 LPL GPIHBP1 APOE APOC3 APOC2 APOB
34 negative regulation of lipoprotein lipase activity GO:0051005 9.79 APOC3 ANGPTL4 ANGPTL3
35 regulation of Cdc42 protein signal transduction GO:0032489 9.79 APOE APOC3 APOA1
36 very-low-density lipoprotein particle clearance GO:0034447 9.78 VLDLR APOE APOB
37 lipoprotein biosynthetic process GO:0042158 9.77 APOE APOB APOA1
38 retinoid metabolic process GO:0001523 9.76 PNLIP LPL GPIHBP1 APOE APOC3 APOC2
39 lipid storage GO:0019915 9.73 APOA1 ANGPTL3
40 positive regulation of cholesterol efflux GO:0010875 9.73 APOE APOA1
41 phosphatidylcholine metabolic process GO:0046470 9.72 APOA5 APOA1
42 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.72 LPL APOB
43 phospholipid homeostasis GO:0055091 9.72 APOA1 ANGPTL3
44 positive regulation of lipid storage GO:0010884 9.72 LPL APOB
45 very-low-density lipoprotein particle assembly GO:0034379 9.71 APOC3 APOB
46 positive regulation of lipid catabolic process GO:0050996 9.71 APOA5 ANGPTL3
47 positive regulation of cholesterol storage GO:0010886 9.71 LPL APOB
48 negative regulation of receptor-mediated endocytosis GO:0048261 9.7 APOC3 APOC2
49 negative regulation of lipid metabolic process GO:0045833 9.7 APOC3 APOC2
50 lipoprotein catabolic process GO:0042159 9.7 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 9.96 LPL APOE APOA1 ANGPTL4 ANGPTL3
2 lipid binding GO:0008289 9.88 GPIHBP1 APOE APOC3 APOC2 APOA5 APOA1
3 cholesterol binding GO:0015485 9.75 APOC3 APOA5 APOA1
4 carboxylic ester hydrolase activity GO:0052689 9.74 PNLIP LPL LIPC
5 lipid transporter activity GO:0005319 9.7 APOE APOB APOA1
6 triglyceride lipase activity GO:0004806 9.69 PNLIP LPL LIPC
7 low-density lipoprotein particle receptor binding GO:0050750 9.67 APOE APOB APOA5
8 intermembrane cholesterol transfer activity GO:0120020 9.65 APOE APOB APOA1
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 heparan sulfate proteoglycan binding GO:0043395 9.61 LPL APOE
13 phospholipase A1 activity GO:0008970 9.61 LPL LIPC
14 apolipoprotein binding GO:0034185 9.61 VLDLR LPL LIPC
15 phosphatidylserine 1-acylhydrolase activity GO:0052739 9.6 LPL LIPC
16 1-acyl-2-lysophosphatidylserine acylhydrolase activity GO:0052740 9.59 LPL LIPC
17 lipoprotein lipase activity GO:0004465 9.58 LPL LIPC
18 high-density lipoprotein particle receptor binding GO:0070653 9.55 APOC3 APOA1
19 phospholipid binding GO:0005543 9.55 APOE APOC3 APOB APOA5 APOA1
20 lipoprotein lipase activator activity GO:0060230 9.54 APOC2 APOA5
21 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.54 APOE APOA5 APOA1
22 lipase inhibitor activity GO:0055102 9.5 APOC3 APOC2 APOA1
23 lipase binding GO:0035473 9.43 GPIHBP1 APOB APOA5
24 heparin binding GO:0008201 9.43 LPL LIPC APOE APOB APOA5 ANGPTL3
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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