HLPP1
MCID: HYP768
MIFTS: 67

Hyperlipoproteinemia, Type I (HLPP1)

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Hyperlipoproteinemia, Type I

MalaCards integrated aliases for Hyperlipoproteinemia, Type I:

Name: Hyperlipoproteinemia, Type I 56 36 29 6
Familial Chylomicronemia Syndrome 12 52 58 29 15
Lipoprotein Lipase Deficiency 56 74 73 13 39
Hyperlipemia, Idiopathic, Burger-Grutz Type 56 73
Hyperlipemia, Essential Familial 56 73
Hyperchylomicronemia, Familial 56 73
Hyperlipoproteinemia, Type Ia 56 73
Hyperlipoproteinemia Type I 74 71
Chylomicronemia, Familial 56 73
Lipase D Deficiency 56 73
Lipd Deficiency 56 73
Lpl Deficiency 56 73
High Density Lipoprotein Cholesterol Level Qtl 11 56
Familial Hyperchylomicronemia Syndrome 71
Familial Hyperchylomicronemia 74
Hyperlipoproteinemia Type 1 52
Hyperlipoproteinemia 1 73
Lipoprotein Lipase 6
Hlpp1 73

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM:

56
Inheritance:
autosomal recessive
multiple alleles and compounds


HPO:

31
hyperlipoproteinemia, type i:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare endocrine diseases


Summaries for Hyperlipoproteinemia, Type I

NIH Rare Diseases : 52 Hyperlipoproteinemia type 1 is an inherited condition that disrupts the normal breakdown of fats in the body, causing a large amount of fat to build up in the blood. This condition is characterized by inflammation of the pancreas (pancreatitis ), abdominal pain, enlargement of the liver and spleen (hepatosplenomegaly ), and small yellow skin lesions called eruptive xanthomas . Hyperlipoproteinemia type 1 is caused by mutations in the LPL gene . This condition is inherited in an autosomal recessive pattern. Treatment aims to control the symptoms through a low-fat diet.

MalaCards based summary : Hyperlipoproteinemia, Type I, also known as familial chylomicronemia syndrome, is related to apolipoprotein c-ii deficiency and familial apolipoprotein c-ii deficiency. An important gene associated with Hyperlipoproteinemia, Type I is LPL (Lipoprotein Lipase), and among its related pathways/superpathways are Glycerolipid metabolism and PPAR signaling pathway. The drugs Heparin and Metformin have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and pancreas, and related phenotypes are hypertriglyceridemia and increased circulating chylomicron concentration

Disease Ontology : 12 A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia.

KEGG : 36 Type I hyperlipoproteinemia is an autosomal recessive disorder caused by deficiency of lipoprotein lipase or its activator apolipoprotein C-II. The defects result in a massive increase in chylomicron and triglyceride levels in plasma.

UniProtKB/Swiss-Prot : 73 Hyperlipoproteinemia 1: An autosomal recessive metabolic disorder characterized by defective breakdown of dietary fats, impaired clearance of chylomicrons from plasma causing the plasma to have a milky appearance, and severe hypertriglyceridemia. On a normal diet, patients often present with abdominal pain, hepatosplenomegaly, lipemia retinalis, eruptive xanthomata, and massive hypertriglyceridemia, sometimes complicated with acute pancreatitis.

Wikipedia : 74 Lipoprotein lipase deficiency is a genetic disorder in which a person has a defective gene for... more...

More information from OMIM: 238600

Related Diseases for Hyperlipoproteinemia, Type I

Diseases in the Hyperlipoproteinemia, Type Iii family:

Hyperlipoproteinemia, Type Iv Hyperlipoproteinemia, Type V
Hyperlipoproteinemia, Type I Hyperlipoproteinemia, Type Id

Diseases related to Hyperlipoproteinemia, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 323)
# Related Disease Score Top Affiliating Genes
1 apolipoprotein c-ii deficiency 32.5 LPL GPIHBP1 APOC2
2 familial apolipoprotein c-ii deficiency 31.9 LPL LMF1 GPIHBP1 APOC3 APOC2
3 lipase deficiency, combined 31.6 PNLIP LPL LMF1 LIPG LIPC GPIHBP1
4 acute pancreatitis 30.9 PNLIP LPL APOC2
5 hyperlipoproteinemia, type v 30.7 LPL APOE APOC3 APOC2 APOB APOA5
6 uremia 30.6 LPL APOC3 APOA1
7 pancreatitis 30.5 PNLIP LPL LMF1 APOC2 APOA5
8 apolipoprotein c-iii deficiency 30.4 LPL APOC3
9 hypoalphalipoproteinemia 30.2 LIPC APOA1
10 platelet glycoprotein iv deficiency 30.1 LPL APOE APOB
11 non-alcoholic fatty liver disease 30.0 LPL APOC3 APOB APOA1
12 cerebrovascular disease 30.0 LPL APOE APOB APOA1
13 xanthomatosis 29.9 LPL APOE APOB
14 aortic atherosclerosis 29.9 LPL APOE APOB APOA1
15 familial lcat deficiency 29.9 APOE APOA1
16 coronary stenosis 29.7 LPL APOE APOB APOA1
17 peripheral artery disease 29.5 APOE APOB APOA1
18 heart disease 29.5 LPL APOE APOC3 APOB APOA5 APOA1
19 lecithin:cholesterol acyltransferase deficiency 29.5 LPL APOE APOB APOA1
20 overnutrition 29.4 LPL APOB APOA1
21 arteriosclerosis 29.4 LPL APOE APOB APOA1
22 tangier disease 29.3 LPL APOE APOB APOA1
23 hyperalphalipoproteinemia 1 29.3 LPL LIPC APOC3 APOB APOA1
24 hypercholesterolemia, familial, 1 29.2 LPL LIPC APOE APOB APOA1
25 hypertension, essential 29.2 LPL LIN9 APOE APOC3 APOB APOA1
26 homozygous familial hypercholesterolemia 29.1 LIPC APOE APOB APOA1
27 hepatic lipase deficiency 29.0 PNLIP LPL LIPC APOE APOA1
28 hypothyroidism 28.8 LPL LIPC APOE APOB APOA1
29 chronic kidney disease 28.8 LPL LIPC APOE APOB APOA1
30 inherited metabolic disorder 28.8 LPL LIN9 APOE APOC3 APOB APOA1
31 hyperlipidemia, familial combined, 3 28.8 LPL LIPC APOE APOC3 APOB APOA5
32 coronary heart disease 1 28.7 LPL LIPC APOE APOC3 APOB APOA5
33 hyperlipoproteinemia, type iii 28.6 LPL LIPC APOE APOB APOA5 APOA1
34 lipid metabolism disorder 28.5 LPL LIPG LIPC APOE APOC3 APOB
35 abetalipoproteinemia 28.4 LPL DGAT1 APOE APOC2 APOB APOA1
36 myocardial infarction 28.4 LPL LIPC APOE APOC3 APOB APOA5
37 vascular disease 28.3 LPL LIPC APOE APOC3 APOC2 APOB
38 familial lipoprotein lipase deficiency 28.2 PNLIP LPL LMF1 LIPC LIN9 GPIHBP1
39 familial hypercholesterolemia 28.2 LPL LIPC APOE APOC3 APOB APOA5
40 hypolipoproteinemia 28.2 LPL LIPG APOE APOC3 APOC2 APOB
41 atherosclerosis susceptibility 28.1 LPL LIPG LIPC APOE APOC3 APOB
42 hypertriglyceridemia, familial 28.0 LPL LIPC APOE APOC3 APOC2 APOB
43 cardiovascular system disease 27.9 LPL LIPG LIPC APOE APOC3 APOB
44 familial hyperlipidemia 27.8 PNLIP LPL LIPC APOE APOC3 APOC2
45 diabetes mellitus 27.6 PNLIP LPL LIPC APOE APOC3 APOC2
46 diabetes mellitus, noninsulin-dependent 26.1 PNLIP LPL LIPC LIN9 DGAT1 APOE
47 body mass index quantitative trait locus 11 26.0 PNLIP LPL LIPG LIPC LIN9 DGAT1
48 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase 12.3
49 hyperlipoproteinemia, type id 11.3
50 familial chylomicronemia due to inhibition of lipoprotein lipase activity 11.3

Comorbidity relations with Hyperlipoproteinemia, Type I via Phenotypic Disease Network (PDN):


Hypertension, Essential Intermediate Coronary Syndrome

Graphical network of the top 20 diseases related to Hyperlipoproteinemia, Type I:



Diseases related to Hyperlipoproteinemia, Type I

Symptoms & Phenotypes for Hyperlipoproteinemia, Type I

Human phenotypes related to Hyperlipoproteinemia, Type I:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertriglyceridemia 58 31 obligate (100%) Obligate (100%) HP:0002155
2 increased circulating chylomicron concentration 31 obligate (100%) HP:0012238
3 hepatosplenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001433
4 episodic abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002574
5 acute pancreatitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001735
6 recurrent pancreatitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100027
7 lipemia retinalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000660
8 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0001397
9 eruptive xanthomas 58 31 frequent (33%) Frequent (79-30%) HP:0001013
10 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
11 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002017
12 memory impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0002354
13 depressivity 58 31 very rare (1%) Very rare (<4-1%) HP:0000716
14 jaundice 58 31 very rare (1%) Very rare (<4-1%) HP:0000952
15 diabetes mellitus 58 31 very rare (1%) Very rare (<4-1%) HP:0000819
16 pulmonary embolism 58 31 very rare (1%) Very rare (<4-1%) HP:0002204
17 dementia 58 31 very rare (1%) Very rare (<4-1%) HP:0000726
18 abnormal emotion/affect behavior 58 31 very rare (1%) Very rare (<4-1%) HP:0100851
19 perianal abscess 58 31 very rare (1%) Very rare (<4-1%) HP:0009789
20 hyperlipidemia 58 31 Obligate (100%) HP:0003077
21 splenomegaly 31 HP:0001744
22 vomiting 31 HP:0002013
23 hypercholesterolemia 31 HP:0003124
24 decreased body weight 58 Occasional (29-5%)
25 pancreatitis 31 HP:0001733
26 precocious atherosclerosis 58 Excluded (0%)
27 nausea 31 HP:0002018
28 hyperchylomicronemia 58 Obligate (100%)
29 lactescent serum 31 HP:0031028

Symptoms via clinical synopsis from OMIM:

56
G I:
splenomegaly
nausea and vomiting
hepatosplenomegaly
pancreatitis
episodic abdominal pain
more
Lab:
hyperlipidemia
hypercholesterolemia
hyperchylomicronemia
hyperlipemia
fat-induced hyperlipemia
more
Cardiac:
no precocious atherosclerosis

Skin:
jaundice
eruptive xanthomas

Eyes:
lipemia retinalis

Clinical features from OMIM:

238600

GenomeRNAi Phenotypes related to Hyperlipoproteinemia, Type I 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 Hyperlipoproteinemia, Type I:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 ANGPTL3 ANGPTL4 APOA1 APOA5 APOB APOC2
2 adipose tissue MP:0005375 9.63 ANGPTL3 ANGPTL4 APOE DGAT1 LPL PNLIP
3 liver/biliary system MP:0005370 9.23 ANGPTL3 APOA1 APOB APOE DGAT1 LMF1

Drugs & Therapeutics for Hyperlipoproteinemia, Type I

Drugs for Hyperlipoproteinemia, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 105)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
2
Metformin Approved Phase 4 657-24-9 14219 4091
3
Lixisenatide Approved Phase 4 320367-13-3
4
Ezetimibe Approved Phase 4 163222-33-1 150311
5
Simvastatin Approved Phase 4 79902-63-9 54454
6 Coconut Approved Phase 4
7
Atorvastatin Approved Phase 4 134523-00-5 60823
8
Methyltestosterone Approved Phase 4 58-18-4 6010
9
Testosterone enanthate Approved Phase 4 315-37-7 9416
10
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 10204 6013
11
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
12
Fenofibrate Approved Phase 4 49562-28-9 3339
13
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
14 calcium heparin Phase 4
15 Glucagon-Like Peptide 1 Phase 4
16 4-phenylbutyric acid Phase 4
17 Anticholesteremic Agents Phase 4
18 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
19 Antineoplastic Agents, Hormonal Phase 4
20 Hormones Phase 4
21 Hormone Antagonists Phase 4
22 Pharmaceutical Solutions Phase 4
23 Testosterone 17 beta-cypionate Phase 4
24 Anabolic Agents Phase 4
25 Androgens Phase 4
26 Lipid Regulating Agents Phase 4
27 Hypolipidemic Agents Phase 4
28 Hypoglycemic Agents Phase 4
29 Antimetabolites Phase 4
30
Medroxyprogesterone acetate Approved, Investigational Phase 2, Phase 3 71-58-9
31
Fosamprenavir Approved Phase 3 226700-79-4 131536
32 Antiemetics Phase 2, Phase 3
33 Neuroprotective Agents Phase 2, Phase 3
34 Protective Agents Phase 2, Phase 3
35 Estrogens Phase 2, Phase 3
36 Contraceptive Agents Phase 2, Phase 3
37 Contraceptive Agents, Male Phase 2, Phase 3
38 Contraceptives, Oral Phase 2, Phase 3
39 Estrogens, Conjugated (USP) Phase 2, Phase 3
40
Medroxyprogesterone Phase 2, Phase 3 520-85-4 10631
41 Omega 3 Fatty Acid Phase 3
42
Tocopherol Approved, Investigational Phase 1, Phase 2 1406-66-2, 54-28-4 14986
43
Orlistat Approved, Investigational Phase 2 96829-58-2 3034010
44
Vitamin E Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-02-9 14985
45 Tocotrienol Investigational Phase 1, Phase 2 6829-55-6
46 Vitamins Phase 1, Phase 2
47 Sunflower Phase 1, Phase 2
48 Tocotrienols Phase 1, Phase 2
49 Tocopherols Phase 1, Phase 2
50 Anti-Obesity Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 83)
# Name Status NCT ID Phase Drugs
1 Study of the Effects of Lovaza (Omega 3 Fatty Acids) On Lipoprotein Particles and Their Transcriptional Effects Unknown status NCT01301794 Phase 4
2 The Effect of Lixisenatide on Postprandial Lipid and Glucose Metabolism in Patients With Type 2 Diabetes Completed NCT02049034 Phase 4
3 Mechanism of Fatty Acid-induced Impairment of Glucose-stimulated Insulin Secretion - Effect of Buphenyl Completed NCT00533559 Phase 4 sodium phenylbutyrate;Placebo
4 Effects of Statin and Ezetimibe Association on Kinetics of Artificial Chilomicrons in Men With Stable Coronary Heart Disease. Completed NCT00481351 Phase 4 Simvastatin 20mg plus ezetimibe 10mg;ezetimibe;simvastatin 20mg;Simvastatin 80mg
5 Effect of Virgin Coconut Oil (VCO) on Cardiometabolic Parameters in Patients With Dyslipidemia: A Randomized, add-on, Placebo-controlled Clinical Trial Recruiting NCT03906539 Phase 4 Atorvastatin 10mg
6 52 Week RCT to Investigate the Effect of Testosterone Undecanoate vs Placebo on Intrahepatic Fat Content in Obese Men With T2DM and Hypogonadism and Subsequent 108 Week Open Label Phase to Investigate Effects on Cardiometabolic Parameters Not yet recruiting NCT03851627 Phase 4 Testosterone Undecanoate;Placebo
7 Rosiglitazone And Fenofibrate Additive Effects on Lipids (RAFAEL) Terminated NCT00819910 Phase 4 Rosiglitazone;Placebo (Rosiglitazone);Placebo (Fenofibrate);Fenofibrate
8 Diet and Weight Loss Study - a Weight Loss Trial to Determine Whether Dairy Products Augment Weight Loss for Adults Following an Energy-restricted Weight Loss Study Withdrawn NCT01337895 Phase 4
9 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
10 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
11 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
12 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
13 Estrogen, HDL, and Coronary Heart Disease in Women Completed NCT00083824 Phase 2, Phase 3 Estrogens, Conjugated (USP);Medroxyprogesterone 17-Acetate;Placebo
14 An Open Label Safety and Efficacy Trial of Fenofibrate in Persons With SCI Completed NCT02455336 Phase 2, Phase 3 Fenofibrate
15 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
16 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
17 Latinos Using Cardio Health Actions to Reduce Risk (LUCHAR): Effect of Omega-3 Fatty Acids on Vascular Function and Inflammation Terminated NCT00935766 Phase 3 Omega-3;Placebo
18 Impact of n-3 Fatty Acid Supplementation on the Metabolic Abnormalities in Children With NAFLD Unknown status NCT02201160 Phase 1, Phase 2
19 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
20 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
21 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
22 A Mechanistic Study of the Effects of LY518674 on HDL C Metabolism Completed NCT00327002 Phase 2 LY518674
23 A Randomized, Double Blind, Placebo-Controlled Study to Assess Efficacy, Safety and Tolerability of ISIS 304801 in Patients With Partial Lipodystrophy With an Open-Label Extension Completed NCT02639286 Phase 2 ISIS 304801;Placebo
24 Phase 2 Trial to Examine the Metabolic Effects of Fenofibrate in Burned Patients Completed NCT00361751 Phase 2 fenofibrate
25 Orlistat for the Treatment of Type I Hyperlipoproteinemia Active, not recruiting NCT02767531 Phase 2 Orlistat
26 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
27 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
28 A Randomized Placebo Controlled Double Blind Two Period Cross-Over Study to Assess the Safety and Pharmacokinetics and Pharmacodynamics of Oral Dosages of TRIA-662 (A Hypolipidemic Agent) in Healthy Volunteers Completed NCT01930240 Phase 1 TRIA-662;Placebo
29 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)
30 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
31 Short-term Investigation of Resveratrol on Lipid Turnover in Morbidly Obese Women Undergoing Gastric Bypass Surgery. Effects on Basal and Insulin Stimulated FFA and VLDL-triglyceride Metabolism and Liver VLDL-triglyceride Uptake. Unknown status NCT01826279
32 The Influence Of GIP (Glucose-Dependent Insulinotropic Polypeptide) Infusion On Hormone Sensitive Lipase, Lipoprotein Lipase And Adipokine Expression In Human Subcutaneous Adipose Tissue: An In Vivo Study Unknown status NCT00809029
33 Thyroid Dysfunction and Dyslipidemia in Patients With Chronic Kidney Diseases Unknown status NCT03277911
34 Mitochondrial Activity and Myosteatosis in the Cachexia of Cancers of the Upper Aerodigestive Tract Unknown status NCT03111771
35 Effects of Green Banana BIOmass Consumption in Patients With Pre-diabetes and Diabetes MELlitus (The BIOMEL Study) Unknown status NCT03230123
36 Lipoprotein Lipase Enzyme Activity Assay Validation and Clinical Assessment Completed NCT02656095 Heparin
37 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
38 InFocus France Epidemiological Study of Health Burden in Major Hypertriglyceridemia Completed NCT04223908
39 Effects of Water-Based Exercise on Lipid Profile and Lipoprotein Lipase of Dyslipidemic Premenopausal Women: A Randomized Controlled Trial Completed NCT02418715
40 Lipoprotein Lipase Expression in Chronic Lymphocytic Leukemia Completed NCT01460238
41 Systematic Study of Post Herapin Lipoprotein Lipase Activity and Lipoprotein Remodelling in Multifactorial Chylomicronemia Completed NCT02933138
42 Genetics, Metabolism and Weight Loss in Older, Obese Veterans Completed NCT00018330
43 Weight Set-Point and HDL Concentration in Runners Completed NCT00005342
44 Genetic Epidemiology of Lipoprotein-Lipid Levels Completed NCT00005335
45 High Density Lipoprotein Subspecies and Coronary Disease Completed NCT00005676
46 Serum ANGPTL3, ANGPTL8 and Glypican 4 Concentrations in Relation to the Development of Obesity in Korean Children: a Three Year Prospective Cohort Study Completed NCT02389556
47 Free Fatty Acids-Induced Hypertension, Endothelial Dysfunction, Inflammation, Insulin Resistance, and Autonomic Dysfunction in Lean and Obese Subjects (Aim #2) Completed NCT02406586 Salsalate;Carvedilol;Placebo;Intralipid 20%
48 Mediterranean vs. Low-Carbohydrate Diet : Which is the Best Dietary Approach for Treating Postprandial Lipid Abnormalities and Improving Glucose Control in Type 2 Diabetic Patients? Completed NCT00789295
49 Genetic Epidemiology of CHD Risk Factors in Blacks Completed NCT00005364
50 Genetic and Epidemiologic Studies of Premature Coronary Artery Disease - SCOR in Arteriosclerosis Completed NCT00005324

Search NIH Clinical Center for Hyperlipoproteinemia, Type I

Genetic Tests for Hyperlipoproteinemia, Type I

Genetic tests related to Hyperlipoproteinemia, Type I:

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

Anatomical Context for Hyperlipoproteinemia, Type I

MalaCards organs/tissues related to Hyperlipoproteinemia, Type I:

40
Liver, Skin, Pancreas, Spleen, Heart, Kidney, Endothelial

Publications for Hyperlipoproteinemia, Type I

Articles related to Hyperlipoproteinemia, Type I:

(show top 50) (show all 351)
# Title Authors PMID Year
1
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. 61 6 56
1674945 1991
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. 6 56
16174715 2005
3
Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency. 56 6
1969408 1990
4
Familial Lipoprotein Lipase Deficiency 6 61
20301485 1999
5
Prevention of recurrent pancreatitis in familial lipoprotein lipase deficiency with high-dose antioxidant therapy. 61 56
10199753 1999
6
Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study. 56 61
9738727 1998
7
Hemolysis in primary lipoprotein lipase deficiency. 56 61
7752915 1995
8
A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity. 61 6
8135797 1994
9
A G----C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family. 6 61
1530621 1992
10
Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Québec. 6 61
1576758 1992
11
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency. 6 61
1752947 1991
12
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
13
A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians. 6 61
2038366 1991
14
Molecular basis of lipoprotein lipase deficiency in two Austrian families with type I hyperlipoproteinemia. 61 6
1872917 1991
15
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 61
2121025 1990
16
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. 61 6
1975597 1990
17
Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation. 6 61
2394828 1990
18
Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene. 6 61
2349938 1990
19
Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency. 61 6
2294743 1990
20
Defective enzyme protein in lipoprotein lipase deficiency. 56 61
2511019 1989
21
A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency. 6 61
2536938 1989
22
An incomplete form of familial lipoprotein lipase deficiency presenting with type I hyperlipoproteinemia. 61 56
3630977 1987
23
Phenotypic heterogeneity in the extended pedigree of a proband with lipoprotein lipase deficiency. 6 61
6645961 1983
24
Initial diagnosis of lipoprotein lipase deficiency in a 75-year-old man. 56 61
6638056 1983
25
Heterogeneity of primary lipoprotein lipase deficiency. 56 61
7382827 1980
26
Inheritance of apolipoprotein C-II deficiency with hypertriglyceridemia and pancreatitis. 61 6
213719 1978
27
Juvenile familial hypertriglyceridemia and growth retardation. Clinical and biochemical observations in three siblings. 61 56
192555 1977
28
Targeting APOC3 in the familial chylomicronemia syndrome. 56
25470695 2014
29
Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain. 6
24847059 2014
30
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. 6
24614124 2014
31
Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 6
22962670 2012
32
Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. 6
22239554 2012
33
GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia. 6
21816778 2011
34
Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia. 6
20026666 2010
35
Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects. 6
20124439 2010
36
Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase. 6
19304573 2009
37
Combination of circulating antilipoprotein lipase (Anti-LPL) antibody and heterozygous S172 fsX179 mutation of LPL gene leading to chronic hyperchylomicronemia. 6
15840743 2005
38
Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy. 6
12783430 2003
39
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. 6
11334614 2001
40
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
41
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
42
Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event. 6
9714430 1998
43
A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase. 6
8858123 1996
44
The mutation Gly142-->Glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes. 6
8567671 1996
45
Lipoprotein lipase: role of intramolecular disulfide bonds in enzyme catalysis. 6
7818530 1995
46
Apolipoprotein CII-Padova (Tyr37-->stop) as a cause of chylomicronaemia in an Italian kindred from Siculiana. 6
7815420 1994
47
Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries. 6
7906986 1994
48
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
49
Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes. 6
8325986 1993
50
A missense mutation (Trp 26-->Arg) in exon 3 of the apolipoprotein CII gene in a patient with apolipoprotein CII deficiency (apo CII-Wakayama). 6
8323539 1993

Variations for Hyperlipoproteinemia, Type I

ClinVar genetic disease variations for Hyperlipoproteinemia, Type I:

6 (show top 50) (show all 149) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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

UniProtKB/Swiss-Prot genetic disease variations for Hyperlipoproteinemia, Type I:

73 (show top 50) (show all 68)
# Symbol AA change Variation ID SNP ID
1 LPL p.Arg102Ser VAR_004211 rs118204073
2 LPL p.Trp113Gly VAR_004212
3 LPL p.Trp113Arg VAR_004213 rs118204069
4 LPL p.His163Arg VAR_004214
5 LPL p.Gly169Glu VAR_004215 rs118204063
6 LPL p.Gly181Ser VAR_004216
7 LPL p.Asp183Gly VAR_004217 rs118204064
8 LPL p.Asp183Asn VAR_004218 rs781614031
9 LPL p.Pro184Arg VAR_004219
10 LPL p.Ala185Thr VAR_004220 rs748349562
11 LPL p.Ser199Cys VAR_004221 rs118204072
12 LPL p.Ala203Thr VAR_004222 rs118204056
13 LPL p.Asp207Glu VAR_004223 rs118204076
14 LPL p.His210Gln VAR_004224
15 LPL p.Gly215Glu VAR_004225 rs118204057
16 LPL p.Ser220Arg VAR_004226 rs757546424
17 LPL p.Ile221Thr VAR_004227 rs118204061
18 LPL p.Gly222Glu VAR_004228 rs118204075
19 LPL p.Asp231Glu VAR_004229 rs118204067
20 LPL p.Ile232Ser VAR_004230 rs770601263
21 LPL p.Pro234Leu VAR_004231 rs118204060
22 LPL p.Cys243Ser VAR_004232
23 LPL p.Arg270His VAR_004233 rs118204062
24 LPL p.Ser271Thr VAR_004234 rs118204059
25 LPL p.Asp277Asn VAR_004235 rs118204068
26 LPL p.Ser278Cys VAR_004236
27 LPL p.Ser286Gly VAR_004237
28 LPL p.Ser286Arg VAR_004238
29 LPL p.Met328Thr VAR_004240 rs118158205
30 LPL p.Leu330Pro VAR_004241
31 LPL p.Ala361Thr VAR_004242 rs118204071
32 LPL p.Leu392Val VAR_004243 rs118204078
33 LPL p.Glu437Lys VAR_004245
34 LPL p.Glu437Val VAR_004246
35 LPL p.Ala288Thr VAR_011949 rs1800011
36 LPL p.Asn70Ser VAR_057914
37 LPL p.Val96Leu VAR_057915 rs373088068
38 LPL p.Ala98Thr VAR_057916 rs145657341
39 LPL p.Thr128Ala VAR_057917
40 LPL p.Gly132Arg VAR_057918
41 LPL p.Gly181Val VAR_057919
42 LPL p.Asp183His VAR_057920 rs781614031
43 LPL p.Gly186Glu VAR_057921
44 LPL p.Glu190Gly VAR_057922
45 LPL p.Asp201Val VAR_057923
46 LPL p.Val208Ile VAR_057924 rs568397156
47 LPL p.His210Asp VAR_057925
48 LPL p.Gly215Arg VAR_057926
49 LPL p.Lys225Arg VAR_057927
50 LPL p.Val227Ala VAR_057928 rs528243561

Expression for Hyperlipoproteinemia, Type I

Search GEO for disease gene expression data for Hyperlipoproteinemia, Type I.

Pathways for Hyperlipoproteinemia, Type I

Pathways related to Hyperlipoproteinemia, Type I according to KEGG:

36
# Name Kegg Source Accession
1 Glycerolipid metabolism hsa00561
2 PPAR signaling pathway hsa03320

Pathways related to Hyperlipoproteinemia, Type I according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 PNLIP LPL LMF1 LIPG LIPC GPIHBP1
2
Show member pathways
12.69 LPL DGAT1 APOA5 APOA1 ANGPTL4
3
Show member pathways
12.47 PNLIP LPL GPIHBP1 APOE APOC3 APOC2
4
Show member pathways
12.09 PNLIP LPL GPIHBP1 APOE APOC3 APOC2
5
Show member pathways
12 PNLIP LPL LMF1 LIPG LIPC GPIHBP1
6 11.83 APOE APOA5 APOA1
7
Show member pathways
11.81 LPL LIPG LIPC DGAT1 APOE APOC3
8
Show member pathways
11.73 APOE APOB APOA1
9 11.69 LPL APOC3 APOA5 APOA1 ANGPTL4
10 11.55 PNLIP LPL LIPG LIPC DGAT1
11
Show member pathways
11.53 LPL LIPC DGAT1
12
Show member pathways
11.4 PNLIP DGAT1 APOB APOA1
13 11.09 APOC3 APOA5 APOA1
14 11.03 PNLIP APOB APOA1
15 10.67 PNLIP LIPG LIPC

GO Terms for Hyperlipoproteinemia, Type I

Cellular components related to Hyperlipoproteinemia, Type I according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.22 PNLIP LPL LIPG LIPC APOE APOC3
2 extracellular region GO:0005576 10.21 PNLIP LPL LIPG LIPC GPIHBP1 APOE
3 early endosome GO:0005769 10.03 LIPG APOE APOC3 APOC2 APOB APOA5
4 collagen-containing extracellular matrix GO:0062023 9.95 APOE APOC3 APOA1 ANGPTL4 ANGPTL3 ANGPTL1
5 endoplasmic reticulum lumen GO:0005788 9.91 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 9.67 APOE APOB APOA1
10 spherical high-density lipoprotein particle GO:0034366 9.63 APOC3 APOC2 APOA1
11 intermediate-density lipoprotein particle GO:0034363 9.55 APOE APOC3 APOC2 APOB APOA1
12 discoidal high-density lipoprotein particle GO:0034365 9.52 APOE APOA1
13 chylomicron GO:0042627 9.5 LPL APOE APOC3 APOC2 APOB APOA5
14 very-low-density lipoprotein particle GO:0034361 9.17 LPL APOE APOC3 APOC2 APOB APOA5

Biological processes related to Hyperlipoproteinemia, Type I according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.22 PNLIP LPL LIPG LIPC APOE APOC3
2 lipid catabolic process GO:0016042 10.11 PNLIP LPL LIPG LIPC APOC3 APOC2
3 lipid transport GO:0006869 10.06 APOE APOC3 APOC2 APOB APOA5 APOA1
4 post-translational protein modification GO:0043687 10.03 APOE APOB APOA5 APOA1
5 cellular protein metabolic process GO:0044267 10.01 APOE APOB APOA5 APOA1
6 triglyceride metabolic process GO:0006641 10.01 LPL LMF1 DGAT1 APOE APOC3 APOA5
7 cholesterol metabolic process GO:0008203 9.99 LIPC APOE APOB APOA1 ANGPTL3
8 lipoprotein metabolic process GO:0042157 9.97 APOE APOC3 APOB APOA5 APOA1
9 triglyceride catabolic process GO:0019433 9.97 LPL LIPG LIPC APOC3 APOB APOA5
10 positive regulation of lipoprotein lipase activity GO:0051006 9.96 LMF1 GPIHBP1 APOC2 APOA5 APOA1
11 phospholipid efflux GO:0033700 9.95 APOE APOC3 APOC2 APOA5 APOA1
12 cholesterol efflux GO:0033344 9.93 APOE APOC3 APOC2 APOB APOA5 APOA1
13 chylomicron assembly GO:0034378 9.92 APOE APOC3 APOC2 APOB APOA1
14 steroid metabolic process GO:0008202 9.91 APOE APOB APOA1
15 regulation of lipoprotein lipase activity GO:0051004 9.91 LPL LMF1 LIPC GPIHBP1 ANGPTL3
16 reverse cholesterol transport GO:0043691 9.91 LIPG LIPC APOE APOC3 APOC2 APOA1
17 regulation of lipid metabolic process GO:0019216 9.89 APOA5 APOA1 ANGPTL4
18 phospholipid metabolic process GO:0006644 9.89 LPL APOA1 ANGPTL3
19 fatty acid biosynthetic process GO:0006633 9.89 LPL LIPG LIPC
20 high-density lipoprotein particle remodeling GO:0034375 9.88 LIPG LIPC APOE APOC3 APOC2 APOA1
21 intermembrane lipid transfer GO:0120009 9.86 APOE APOB APOA1
22 chylomicron remnant clearance GO:0034382 9.85 LMF1 LIPC APOE APOC3 APOC2 APOB
23 artery morphogenesis GO:0048844 9.84 APOE APOB ANGPTL3
24 lipid storage GO:0019915 9.84 DGAT1 APOA1 ANGPTL3
25 cholesterol transport GO:0030301 9.83 LIPC APOB APOA1
26 positive regulation of lipid biosynthetic process GO:0046889 9.83 APOE APOA5 APOA1
27 positive regulation of fatty acid biosynthetic process GO:0045723 9.83 APOC2 APOA5 APOA1
28 low-density lipoprotein particle remodeling GO:0034374 9.82 LIPC APOE APOB
29 high-density lipoprotein particle assembly GO:0034380 9.82 APOE APOA5 APOA1
30 phospholipid homeostasis GO:0055091 9.81 LIPG APOA1 ANGPTL3
31 very-low-density lipoprotein particle assembly GO:0034379 9.81 DGAT1 APOC3 APOB
32 high-density lipoprotein particle clearance GO:0034384 9.8 APOE APOC2 APOA1
33 positive regulation of triglyceride catabolic process GO:0010898 9.8 APOC2 APOA5 APOA1
34 very-low-density lipoprotein particle remodeling GO:0034372 9.8 LPL LIPC APOE APOC2 APOA5 APOA1
35 chylomicron remodeling GO:0034371 9.8 LPL GPIHBP1 APOE APOC3 APOC2 APOB
36 positive regulation of cholesterol esterification GO:0010873 9.79 APOE APOA5 APOA1
37 negative regulation of lipoprotein lipase activity GO:0051005 9.79 APOC3 ANGPTL4 ANGPTL3
38 regulation of Cdc42 protein signal transduction GO:0032489 9.78 APOE APOC3 APOA1
39 lipoprotein biosynthetic process GO:0042158 9.77 APOE APOB APOA1
40 retinoid metabolic process GO:0001523 9.76 PNLIP LPL GPIHBP1 APOE APOC3 APOC2
41 triglyceride biosynthetic process GO:0019432 9.73 LPL DGAT1
42 positive regulation of cholesterol efflux GO:0010875 9.73 APOE APOA1
43 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 LPL APOB
44 fatty acid homeostasis GO:0055089 9.73 DGAT1 APOE
45 phospholipid catabolic process GO:0009395 9.73 LIPG ANGPTL3
46 phosphatidylcholine metabolic process GO:0046470 9.72 APOA5 APOA1
47 lipoprotein transport GO:0042953 9.72 APOC2 APOB
48 regulation of cholesterol metabolic process GO:0090181 9.72 LMF1 APOE
49 positive regulation of lipid storage GO:0010884 9.72 LPL APOB
50 positive regulation of lipid catabolic process GO:0050996 9.71 APOA5 ANGPTL3

Molecular functions related to Hyperlipoproteinemia, Type I according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 10.02 LPL APOE APOA1 ANGPTL4 ANGPTL3 ANGPTL1
2 lipid binding GO:0008289 9.99 GPIHBP1 APOE APOC3 APOC2 APOA5 APOA1
3 phospholipid binding GO:0005543 9.85 APOE APOC3 APOB APOA5 APOA1
4 cholesterol binding GO:0015485 9.78 APOC3 APOA5 APOA1
5 carboxylic ester hydrolase activity GO:0052689 9.78 PNLIP LPL LIPG LIPC
6 lipid transporter activity GO:0005319 9.76 APOE APOB APOA1
7 phospholipase activity GO:0004620 9.75 LPL LIPG LIPC
8 low-density lipoprotein particle receptor binding GO:0050750 9.74 APOE APOB APOA5
9 intermembrane cholesterol transfer activity GO:0120020 9.73 APOE APOB APOA1
10 phospholipase A1 activity GO:0008970 9.71 LPL LIPG LIPC
11 phosphatidylserine 1-acylhydrolase activity GO:0052739 9.7 LPL LIPG LIPC
12 1-acyl-2-lysophosphatidylserine acylhydrolase activity GO:0052740 9.67 LPL LIPG LIPC
13 apolipoprotein binding GO:0034185 9.62 LPL LIPC
14 heparan sulfate proteoglycan binding GO:0043395 9.61 LPL APOE
15 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.61 APOE APOA5 APOA1
16 lipoprotein lipase activator activity GO:0060230 9.6 APOC2 APOA5
17 high-density lipoprotein particle receptor binding GO:0070653 9.59 APOC3 APOA1
18 lipase inhibitor activity GO:0055102 9.58 APOC3 APOC2 APOA1
19 triglyceride lipase activity GO:0004806 9.56 PNLIP LPL LIPG LIPC
20 lipase binding GO:0035473 9.54 GPIHBP1 APOB APOA5
21 lipoprotein lipase activity GO:0004465 9.5 LPL LIPG LIPC
22 lipase activity GO:0016298 9.46 PNLIP LPL LIPG LIPC
23 lipoprotein particle binding GO:0071813 9.26 LPL GPIHBP1 APOE APOA1
24 heparin binding GO:0008201 9.17 LPL LIPG LIPC APOE APOB APOA5

Sources for Hyperlipoproteinemia, Type I

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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