MCID: FML026
MIFTS: 49

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 53 25 15
Familial Lpl Deficiency 12 24 53 25
Familial Chylomicronemia Syndrome 12 59 29
Hyperlipoproteinemia Type I 25 44 72
Familial Fat-Induced Hypertriglyceridemia 53 25
Lipoprotein Lipase Deficiency, Familial 53 25
Familial Hyperlipoproteinemia Type I 12 75
Endogenous Hypertriglyceridaemia 53 25
Familial Hyperchylomicronemia 53 25
Burger-Grutz Syndrome 53 25
Hyperchylomicronemia 12 75
Lipase D Deficiency 53 25
Lipd Deficiency 53 25
Fredrickson Type I Hyperlipoproteinemia 12
Hypercholesterinaemic Xanthomatosis 12
Lipoprotein Lipase Deficiency 53
Hyperlipoproteinemia Type Ia 25
Fredrickson Type I Lipaemia 12
Type I Hyperlipoproteinemia 53
Mixed Hyperglyceridemia 12
Lpl Deficiency 53

Characteristics:

Orphanet epidemiological data:

59
familial chylomicronemia syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United States),1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:14118
ICD9CM 35 272.3
MeSH 44 D008072
NCIt 50 C84771
SNOMED-CT 68 34171006
ICD10 33 E78.3
ICD10 via Orphanet 34 E78.3
Orphanet 59 ORPHA444490
UMLS 72 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 lipase deficiency, combined and hyperlipoproteinemia, type v. 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 Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and pancreas, and related phenotypes are hypertriglyceridemia and increased circulating chylomicron concentration

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 : 53 Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines.

Wikipedia : 75 Hyperlipidemia is abnormally elevated levels of any or all lipids or lipoproteins in the blood. It is... more...

GeneReviews: NBK1308

Related Diseases for Familial Lipoprotein Lipase Deficiency

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

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 lipase deficiency, combined 32.6 LPL LMF1
2 hyperlipoproteinemia, type v 32.1 LPL APOC2 APOA5
3 apolipoprotein c-ii deficiency 31.9 LPL GPIHBP1 APOC2
4 recurrent acute pancreatitis 30.2 LPL GPIHBP1
5 steatorrhea 30.1 PNLIP APOC2
6 acute pancreatitis 30.0 PNLIP LPL APOC2
7 familial hyperlipidemia 29.8 LPL APOC3 APOC2
8 lipid metabolism disorder 29.7 LPL APOC3 APOA5
9 lecithin:cholesterol acyltransferase deficiency 29.6 LPL APOC3 APOC2
10 hyperlipoproteinemia, type iii 29.6 LPL APOA5
11 coronary artery anomaly 29.2 LPL APOA5
12 coronary heart disease 1 29.1 LPL APOC3 APOA5
13 pancreatitis 29.0 PNLIP LPL APOC2 APOA5
14 hypertriglyceridemia, familial 29.0 LPL APOC3 APOC2 APOA5
15 diabetes mellitus, noninsulin-dependent 28.7 LPL APOC3 APOC2
16 body mass index quantitative trait locus 11 28.5 PNLIP LPL APOC3 APOA5
17 hyperlipoproteinemia, type i 11.9
18 hepatic lipase deficiency 10.2 PNLIP LPL
19 hypercholesterolemia, familial, 1 10.2
20 glycogen storage disease ia 10.2 LPL APOC2
21 atherosclerosis susceptibility 10.1
22 huntington disease-like 2 10.1
23 familial hypercholesterolemia 10.1
24 alcohol use disorder 10.1
25 hypobetalipoproteinemia, familial, 2 10.1 LPL APOC3
26 systemic lupus erythematosus 10.1
27 myeloma, multiple 10.0
28 ocular motor apraxia 10.0
29 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
30 cyanosis, transient neonatal 10.0
31 hyperlipoproteinemia, type id 10.0
32 exanthem 10.0
33 transient neonatal diabetes mellitus 10.0
34 neonatal diabetes mellitus 10.0
35 cholestasis 10.0
36 ischemia 10.0
37 head injury 10.0
38 obsolete: combined hyperlipidemia 10.0
39 hyperalphalipoproteinemia 1 10.0 LPL APOC3
40 hyperlipidemia, familial combined, 3 10.0
41 pancreatitis, hereditary 10.0
42 huntington disease-like 3 10.0
43 autosomal recessive disease 10.0
44 hyperinsulinism 10.0
45 splenomegaly 10.0
46 rapidly involuting congenital hemangioma 10.0
47 beta-thalassemia 10.0
48 thalassemia 10.0
49 insulinoma 10.0
50 hypoglycemia 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

Human phenotypes related to Familial Lipoprotein Lipase Deficiency:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia 59 32 obligate (100%) Obligate (100%) HP:0002155
2 increased circulating chylomicron concentration 32 obligate (100%) HP:0012238
3 episodic abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002574
4 hepatosplenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001433
5 recurrent pancreatitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100027
6 acute pancreatitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001735
7 lipemia retinalis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000660
8 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0001397
9 eruptive xanthomas 59 32 frequent (33%) Frequent (79-30%) HP:0001013
10 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
11 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%) HP:0002017
12 depressivity 59 32 very rare (1%) Very rare (<4-1%) HP:0000716
13 diabetes mellitus 59 32 very rare (1%) Very rare (<4-1%) HP:0000819
14 pulmonary embolism 59 32 very rare (1%) Very rare (<4-1%) HP:0002204
15 memory impairment 59 32 very rare (1%) Very rare (<4-1%) HP:0002354
16 jaundice 59 32 very rare (1%) Very rare (<4-1%) HP:0000952
17 dementia 59 32 very rare (1%) Very rare (<4-1%) HP:0000726
18 abnormal emotion/affect behavior 59 32 very rare (1%) Very rare (<4-1%) HP:0100851
19 perianal abscess 59 32 very rare (1%) Very rare (<4-1%) HP:0009789
20 hyperlipidemia 59 Obligate (100%)
21 decreased body weight 59 Occasional (29-5%)
22 precocious atherosclerosis 59 Excluded (0%)
23 hyperchylomicronemia 59 Obligate (100%)

GenomeRNAi Phenotypes related to Familial Lipoprotein Lipase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.8 APOA5 APOC3 LPL

Drugs & Therapeutics for Familial Lipoprotein Lipase Deficiency

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fosamprenavir Approved Phase 3 226700-79-4 131536
2
Tocopherol Approved, Investigational Phase 1, Phase 2 1406-66-2, 54-28-4 14986
3
Orlistat Approved, Investigational Phase 2 96829-58-2 3034010
4
Vitamin E Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-02-9 14985
5 Tocotrienol Investigational Phase 1, Phase 2 6829-55-6
6 Omega 3 Fatty Acid Phase 1, Phase 2
7 Tocotrienols Phase 1, Phase 2
8 Tocopherols Phase 1, Phase 2
9 Vitamins Phase 1, Phase 2
10 Sunflower Phase 1, Phase 2
11 Lipid Regulating Agents Phase 2
12 Anti-Obesity Agents Phase 2
13
Heparin Approved, Investigational 9005-49-6 46507594 772
14
Calcium Approved, Nutraceutical 7440-70-2 271
15 Fibrinolytic Agents
16 Anticoagulants
17 calcium heparin
18 Calcium, Dietary

Interventional clinical trials:

(show all 22)
# 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 Phase 2 Study of Orlistat and SLx-4090 for Teh Treatment of Type 1 Hyperlipoproteinemia Recruiting NCT01675154 Phase 2 SLx-4090 placebo;Orlistat Placebo;Orlistat;Slx-4090
12 Orlistat for the Treatment of Type I Hyperlipoproteinemia Active, not recruiting NCT02767531 Phase 2 Orlistat
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 BioHoFH - Biomarker for Homozygous Familial Hypercholesterolemia AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT03198897
19 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
20 Glybera Registry, Long-term Safety and Efficacy Follow-up in Lipoprotein Lipase Deficient (LPLD) Patients Treated With Alipogene Tiparvovec (GLYBERA®) Active, not recruiting NCT03293810
21 Volanesorsen (ISIS 304801) Early Access Program for Patients With Familial Chylomicronemia Syndrome (FCS) Available NCT03544060 Volanesorsen
22 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

Cochrane evidence based reviews: hyperlipoproteinemia type i

Genetic Tests for Familial Lipoprotein Lipase Deficiency

Genetic tests related to Familial Lipoprotein Lipase Deficiency:

# Genetic test Affiliating Genes
1 Familial Chylomicronemia Syndrome 29

Anatomical Context for Familial Lipoprotein Lipase Deficiency

MalaCards organs/tissues related to Familial Lipoprotein Lipase Deficiency:

41
Skin, Liver, Pancreas, Spleen, Eye, Retina, Endothelial

Publications for Familial Lipoprotein Lipase Deficiency

Articles related to Familial Lipoprotein Lipase Deficiency:

(show top 50) (show all 153)
# 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. 38 4 71
11334614 2001
2
Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase. 4 71
19304573 2009
3
Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis. 4 71
16174715 2005
4
Familial Lipoprotein Lipase Deficiency 38 71
20301485 1999
5
Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Québec. 38 71
1511985 1992
6
Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Québec. 38 71
1576758 1992
7
A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency. 38 71
1562620 1992
8
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. 38 71
1752947 1991
9
Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family. 38 71
1907278 1991
10
Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain. 71
24847059 2014
11
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. 71
24614124 2014
12
Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 71
22962670 2012
13
Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. 71
22239554 2012
14
GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia. 71
21816778 2011
15
Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia. 71
20026666 2010
16
Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects. 71
20124439 2010
17
Combination of circulating antilipoprotein lipase (Anti-LPL) antibody and heterozygous S172 fsX179 mutation of LPL gene leading to chronic hyperchylomicronemia. 71
15840743 2005
18
Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy. 71
12783430 2003
19
Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys(239)-->Trp, associated with recurrent severe pancreatitis. 71
11134145 2000
20
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)). 71
10735636 2000
21
Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event. 71
9714430 1998
22
A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase. 71
8858123 1996
23
The mutation Gly142-->Glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes. 71
8567671 1996
24
Lipoprotein lipase: role of intramolecular disulfide bonds in enzyme catalysis. 71
7818530 1995
25
Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana. 71
7815420 1994
26
A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity. 71
8135797 1994
27
Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries. 71
7906986 1994
28
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). 71
8288243 1993
29
Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes. 71
8325986 1993
30
A missense mutation (Trp 26-->Arg) in exon 3 of the apolipoprotein CII gene in a patient with apolipoprotein CII deficiency (apo CII-Wakayama). 71
8323539 1993
31
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. 71
8486765 1993
32
Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene. 71
8099055 1993
33
A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia. 71
8096693 1993
34
Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization. 71
1400331 1992
35
A G----C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family. 71
1530621 1992
36
A missense mutation (Asp250----Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries. 71
1639392 1992
37
A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia. 71
1598907 1992
38
Trp64----nonsense mutation in the lipoprotein lipase gene. 71
1512512 1992
39
Apolipoprotein C-II deficiency syndrome due to apo C-IIHamburg: clinical and biochemical features and HphI restriction enzyme polymorphism. 71
1349286 1992
40
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. 71
1737848 1992
41
The lipoprotein lipase Gly188----Glu mutation in South Africans of Indian descent: evidence suggesting common origins and an increased frequency. 71
1351946 1992
42
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. 71
1674945 1991
43
A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians. 71
2038366 1991
44
Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene. 71
2010533 1991
45
Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia. 71
1872917 1991
46
Founder effect in familial hyperchylomicronemia among French Canadians of Quebec. 71
1937490 1991
47
Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome. 71
1702428 1991
48
Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene. 71
2121025 1990
49
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. 71
1975597 1990
50
Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation. 71
2394828 1990

Variations for Familial Lipoprotein Lipase Deficiency

Expression for Familial Lipoprotein Lipase Deficiency

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

Pathways for Familial Lipoprotein Lipase Deficiency

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 PNLIP LPL LMF1 GPIHBP1 APOC3 APOC2
2
Show member pathways
12.26 PNLIP LPL GPIHBP1 APOC3 APOC2
3
Show member pathways
11.7 PNLIP LPL LMF1 GPIHBP1 APOC3 APOC2
4
Show member pathways
11.68 PNLIP LPL GPIHBP1 APOC3 APOC2
5
Show member pathways
11.53 LPL APOC3 APOC2 APOA5
6 11.38 LPL APOC3 APOA5
7 11.22 PNLIP LPL
8 10.82 APOC3 APOA5

GO Terms for Familial Lipoprotein Lipase Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.85 PNLIP LPL GPIHBP1 APOC3 APOC2 APOA5
2 extracellular space GO:0005615 9.83 PNLIP LPL APOC3 APOC2 APOA5
3 low-density lipoprotein particle GO:0034362 9.4 APOC2 APOA5
4 spherical high-density lipoprotein particle GO:0034366 9.32 APOC3 APOC2
5 intermediate-density lipoprotein particle GO:0034363 9.26 APOC3 APOC2
6 very-low-density lipoprotein particle GO:0034361 9.26 LPL APOC3 APOC2 APOA5
7 high-density lipoprotein particle GO:0034364 9.16 APOC2 APOA5
8 chylomicron GO:0042627 8.92 LPL APOC3 APOC2 APOA5

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.91 PNLIP LPL APOC3 APOC2
2 lipid catabolic process GO:0016042 9.8 PNLIP LPL APOC3 APOC2
3 lipid transport GO:0006869 9.77 APOC3 APOC2 APOA5
4 triglyceride catabolic process GO:0019433 9.7 LPL APOC3 APOA5
5 cholesterol efflux GO:0033344 9.69 APOC3 APOC2 APOA5
6 reverse cholesterol transport GO:0043691 9.65 APOC3 APOC2 APOA5
7 retinoid metabolic process GO:0001523 9.63 APOC3 APOC2
8 phospholipid efflux GO:0033700 9.63 APOC3 APOC2 APOA5
9 lipoprotein metabolic process GO:0042157 9.62 APOC3 APOA5
10 high-density lipoprotein particle remodeling GO:0034375 9.62 APOC3 APOC2
11 positive regulation of fatty acid biosynthetic process GO:0045723 9.61 APOC2 APOA5
12 very-low-density lipoprotein particle remodeling GO:0034372 9.61 LPL APOC2 APOA5
13 chylomicron assembly GO:0034378 9.59 APOC3 APOC2
14 positive regulation of triglyceride catabolic process GO:0010898 9.58 APOC2 APOA5
15 negative regulation of receptor-mediated endocytosis GO:0048261 9.58 APOC3 APOC2
16 regulation of lipoprotein lipase activity GO:0051004 9.58 LPL LMF1 GPIHBP1
17 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.57 APOC3 APOC2
18 negative regulation of lipid metabolic process GO:0045833 9.56 APOC3 APOC2
19 triglyceride metabolic process GO:0006641 9.56 LPL LMF1 APOC3 APOA5
20 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.55 APOC2 APOA5
21 cholesterol homeostasis GO:0042632 9.55 LPL GPIHBP1 APOC3 APOC2 APOA5
22 positive regulation of very-low-density lipoprotein particle remodeling GO:0010902 9.54 APOC2 APOA5
23 chylomicron remodeling GO:0034371 9.54 LPL APOC3 APOC2
24 chylomicron remnant clearance GO:0034382 9.5 LMF1 APOC3 APOC2
25 positive regulation of lipoprotein lipase activity GO:0051006 9.26 LMF1 GPIHBP1 APOC2 APOA5
26 triglyceride homeostasis GO:0070328 9.02 LPL GPIHBP1 APOC3 APOC2 APOA5

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

# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.46 APOC3 APOA5
2 enzyme activator activity GO:0008047 9.43 APOC2 APOA5
3 carboxylic ester hydrolase activity GO:0052689 9.4 PNLIP LPL
4 cholesterol binding GO:0015485 9.37 APOC3 APOA5
5 triglyceride lipase activity GO:0004806 9.32 PNLIP LPL
6 lipase inhibitor activity GO:0055102 9.26 APOC3 APOC2
7 lipid binding GO:0008289 9.26 GPIHBP1 APOC3 APOC2 APOA5
8 lipase binding GO:0035473 9.16 GPIHBP1 APOA5
9 lipoprotein lipase activator activity GO:0060230 8.62 APOC2 APOA5

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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