FHTR
MCID: HYP750
MIFTS: 62

Hypertriglyceridemia, Familial (FHTR)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hypertriglyceridemia, Familial

MalaCards integrated aliases for Hypertriglyceridemia, Familial:

Name: Hypertriglyceridemia, Familial 56 73
Hypertriglyceridemia 56 36 29 54 6 39 17 71
Hypertriglyceridemia, Susceptibility to 56 29 13 6 39
Hypertriglyceridemias Familial 54
Fhtr 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hypertriglyceridemia, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 145750
KEGG 36 H01637
MeSH 43 D006953
MedGen 41 C0020480
SNOMED-CT via HPO 68 263681008 74728003
UMLS 71 C0020557

Summaries for Hypertriglyceridemia, Familial

KEGG : 36 Hypertriglyceridemia (HTG) is a condition with fasting triglyceride (TG) levels in blood continuing to rise. HTG generally refers to an increase of plasma triglyceride (TG) concentrations above the 95th percentile for age and gender of a reference population. HTG has generally been classified as primary when a definite familial or inherited basis is suspected, whereas secondary HTG refers to cases where there coexist one or more identifiable secondary conditions such as metabolic syndrome, type 2 diabetes (T2D), alcohol consumption, various medications, renal insufficiency, pregnancy, etc. Genetic conditions with HTG include familial HTG (FHTG), familial combined hyperlipidemia (FCHL) [DS:H00153], and familial dysbetalipoproteinemia (Type III hyperlipidemia) [DS:H00156]. Three drug classes are clinically available for treatment of HTG, fibrates, niacin and n-3 fatty acids. Each of these classes has limitations. There is inconsistency in the evidence base for cardiovascular risk reduction using fibrates, the use of niacin is associated with significant side effects, and there are limited data on the use of n-3 fatty acids to reduce cardiovascular risk.

MalaCards based summary : Hypertriglyceridemia, Familial, also known as hypertriglyceridemia, is related to apolipoprotein c-ii deficiency and lipase deficiency, combined, and has symptoms including hypertriglyceridemic waist An important gene associated with Hypertriglyceridemia, Familial is APOA5 (Apolipoprotein A5), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Ciprofibrate and Liraglutide have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and kidney, and related phenotypes are hypertriglyceridemia and glucose intolerance

OMIM : 56 Most individuals with familial hypertriglyceridemia have a hyperlipoproteinemia IV (144600) phenotype. Relatives of affected persons (ascertained in a study of survivors of coronary occlusion) were found to have normal cholesterol distribution and bimodal triglyceride distribution (Goldstein et al., 1973). Hypertriglyceridemia is not completely expressed in affected children. (145750)

UniProtKB/Swiss-Prot : 73 Hypertriglyceridemia, familial: A common inherited disorder in which the concentration of very low density lipoprotein (VLDL) is elevated in the plasma. This leads to increased risk of heart disease, obesity, and pancreatitis.

Related Diseases for Hypertriglyceridemia, Familial

Diseases in the Hypertriglyceridemia, Familial family:

Hypertriglyceridemia, Transient Infantile

Diseases related to Hypertriglyceridemia, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 453)
# Related Disease Score Top Affiliating Genes
1 apolipoprotein c-ii deficiency 32.7 LPL APOC2
2 lipase deficiency, combined 32.5 LPL LIPC
3 familial apolipoprotein c-ii deficiency 32.3 LPL APOC3 APOC2
4 hyperlipoproteinemia, type i 30.9 LPL LIPC APOE APOC3 APOC2 APOB
5 pancreatitis 30.8 LPL INS APOC2 APOA5
6 familial lipoprotein lipase deficiency 30.4 LPL LIPC APOE APOC3 APOC2 APOB
7 tangier disease 30.3 LPL CETP APOE APOB APOA2 APOA1
8 hyperinsulinism 30.1 SERPINE1 LPL INS APOB
9 hypoalphalipoproteinemia 30.1 LIPC APOA2 APOA1
10 hyperuricemia 30.0 INS APOE APOB
11 hyperglycemia 29.9 SERPINE1 LPL INS APOB
12 xanthomatosis 29.9 LPL APOE APOB
13 xanthoma disseminatum 29.9 APOE APOB
14 uremia 29.7 LPL INS APOC3 APOA1
15 peripheral artery disease 29.6 APOE APOB APOA1
16 glucose intolerance 29.5 SERPINE1 LPL INS APOB APOA1
17 acquired immunodeficiency syndrome 29.5 APOE APOB APOA1
18 hyperlipoproteinemia, type iv 29.5 SLC10A2 LPL CETP APOE APOC3 APOC2
19 intermediate coronary syndrome 29.4 INS APOB APOA1
20 homozygous familial hypercholesterolemia 29.4 LIPC APOE APOB APOA1
21 non-alcoholic steatohepatitis 29.3 SERPINE1 INS APOE
22 acute pancreatitis 29.2 LPL INS APOC2
23 arteries, anomalies of 29.2 SERPINE1 INS APOE APOB APOA1
24 abdominal obesity-metabolic syndrome 1 29.0 SERPINE1 LPL INS APOB
25 platelet glycoprotein iv deficiency 29.0 LPL INS APOE APOB
26 non-alcoholic fatty liver disease 28.9 SERPINE1 LPL INS APOC3 APOB APOA1
27 arteriosclerosis 28.8 SERPINE1 LPL INS APOE APOB APOA1
28 hyperlipoproteinemia, type iii 28.7 LPL LIPC CETP APOE APOB APOA5
29 polyneuropathy 28.7 INS APOA2 APOA1
30 sleep apnea 28.6 SERPINE1 INS APOE APOB
31 aortic atherosclerosis 28.6 LPL CETP APOE APOB APOA1
32 diabetes mellitus, type i 28.5 INS CETP APOB APOA1
33 huntington disease-like 1 28.4 CETP APOE APOB APOA2 APOA1
34 glucose metabolism disease 28.2 SERPINE1 INS APOE APOB APOA1
35 cerebrovascular disease 28.2 SERPINE1 LPL INS APOE APOB APOA1
36 abetalipoproteinemia 28.0 LPL CETP APOE APOC2 APOB APOA1
37 coronary stenosis 28.0 SERPINE1 LPL CETP APOE APOB APOA1
38 kidney disease 27.9 SERPINE1 INS CETP APOE APOC3 APOB
39 diabetes mellitus, noninsulin-dependent 27.8 SERPINE1 LPL LIPC INS CETP APOE
40 hyperlipoproteinemia, type v 27.6 LPL INS APOE APOC3 APOC2 APOB
41 hypothyroidism 27.6 SERPINE1 LPL LIPC INS CETP APOE
42 hyperalphalipoproteinemia 1 27.6 LPL LIPC CETP APOC3 APOB APOA2
43 peripheral vascular disease 27.5 SERPINE1 INS CETP APOB APOA2 APOA1
44 chronic kidney disease 27.5 SERPINE1 LPL LIPC INS CETP APOE
45 hypolipoproteinemia 27.4 LPL CETP APOE APOC3 APOC2 APOB
46 heart disease 27.3 SERPINE1 LPL INS CETP APOE APOC3
47 inherited metabolic disorder 27.3 LPL INS CETP APOE APOC3 APOB
48 lipid metabolism disorder 27.2 SERPINE1 LPL LIPC INS CETP APOE
49 hypercholesterolemia, familial, 1 27.1 LPL LIPC INS CETP APOE APOB
50 atherosclerosis susceptibility 27.0 SERPINE1 LPL LIPC INS CETP APOE

Graphical network of the top 20 diseases related to Hypertriglyceridemia, Familial:



Diseases related to Hypertriglyceridemia, Familial

Symptoms & Phenotypes for Hypertriglyceridemia, Familial

Human phenotypes related to Hypertriglyceridemia, Familial:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypertriglyceridemia 31 HP:0002155
2 glucose intolerance 31 HP:0001952
3 hypopituitarism 31 HP:0040075
4 precocious atherosclerosis 31 HP:0004416
5 increased vldl cholesterol concentration 31 HP:0003362
6 atheroeruptive xanthoma 31 HP:0001039

Symptoms via clinical synopsis from OMIM:

56
Lab:
hypertriglyceridemia
increased plasma vldl
plasma cholesterol and phospholipids usually normal
apolipoprotein c-ii deficiency

Vascular:
precocious atherosclerosis

Misc:
phenotype environmentally influenced, esp. by carbohydrate and ethanol consumption, uremia, hypopituitarism, contraceptive steroids, and glycogen storage disease i

Metabolic:
abnormal glucose tolerance

Skin:
atheroeruptive xanthoma

Clinical features from OMIM:

145750

UMLS symptoms related to Hypertriglyceridemia, Familial:


hypertriglyceridemic waist

GenomeRNAi Phenotypes related to Hypertriglyceridemia, Familial 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 Hypertriglyceridemia, Familial:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 APOA1 APOB APOE CELA2A INS LPL
2 homeostasis/metabolism MP:0005376 9.73 APOA1 APOA2 APOA5 APOB APOC2 APOE
3 liver/biliary system MP:0005370 9.23 APOA1 APOB APOE INS LIPI LPL

Drugs & Therapeutics for Hypertriglyceridemia, Familial

Drugs for Hypertriglyceridemia, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 320)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ciprofibrate Approved, Investigational Phase 4 52214-84-3 2763
2
Liraglutide Approved Phase 4 204656-20-2 44147092
3
Mycophenolic acid Approved Phase 4 24280-93-1 446541
4
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
5
Rilpivirine Approved Phase 4 500287-72-9
6
Darunavir Approved Phase 4 206361-99-1, 635728-49-3 213039
7
Cobicistat Approved Phase 4 1004316-88-4
8
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
9
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
10
Fosamprenavir Approved Phase 4 226700-79-4 131536
11
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
12
Atorvastatin Approved Phase 4 134523-00-5 60823
13
Bexarotene Approved, Investigational Phase 4 153559-49-0 82146
14
Simvastatin Approved Phase 4 79902-63-9 54454
15
Pravastatin Approved Phase 4 81093-37-0 54687
16
Ezetimibe Approved Phase 4 163222-33-1 150311
17
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
18
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
19
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
20
Atenolol Approved Phase 4 29122-68-7 2249
21
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
22
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
23
Polyestradiol phosphate Approved Phase 4 28014-46-2
24
Doxazosin Approved Phase 4 74191-85-8 3157
25
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
26
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
27
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
28
Clonidine Approved Phase 4 4205-90-7 2803
29
Ramipril Approved Phase 4 87333-19-5 5362129
30
Eplerenone Approved Phase 4 107724-20-9 150310 443872
31
Abacavir Approved, Investigational Phase 4 136470-78-5 441300 65140
32
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
33
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 10204 6013
34
Saxagliptin Approved Phase 4 361442-04-8 11243969
35
Glucagon Approved Phase 4 16941-32-5
36
Evolocumab Approved Phase 4 1256937-27-5
37
Fenofibrate Approved Phase 4 49562-28-9 3339
38 Fenofibric acid Approved Phase 4 42017-89-0
39
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
40
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
41
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
42 Coconut Approved Phase 4
43
Sorbitol Approved Phase 4 50-70-4 5780
44
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
45
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
46
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
47
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
48 Tocotrienol Investigational Phase 4 6829-55-6
49
Candesartan Experimental Phase 4 139481-59-7 2541
50 Chelating Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 408)
# Name Status NCT ID Phase Drugs
1 Dose Related Decrease in Triglycerides in Patients With Hypertriglyceridemia and Treated With Lovaza. Unknown status NCT00934219 Phase 4 Omega-3-Acid Ethyl Esters
2 Effects of Fish Oil Supplementation on Vascular Structure and Function in Hypertensive Patients With Hypertriglyceridemia Unknown status NCT01480687 Phase 4 Ciprofibrate
3 Effectiveness and Tolerability of Early Initiation of Combined Lipid -Lowering Therapy Included Simvastatin and Fenofibrate vs Simvastatin Alone in Patients With Type 2 Diabetes Mellitus, Hypertriglyceridemia and Acute Coronary Syndrome Unknown status NCT02015988 Phase 4 Fenofibrate;Simvastatin
4 Study of the Effects of Lovaza (Omega 3 Fatty Acids) On Lipoprotein Particles and Their Transcriptional Effects Unknown status NCT01301794 Phase 4
5 The Effect of Omega-3 Fatty Acids on Hypertriglyceridemia in Patients With Type 2 Diabetes Mellitus Unknown status NCT03120299 Phase 4 Omega-3 fatty acid;Placebos
6 Effect of Liraglutide on Fatty Liver Content Evaluated by Proton-spectroscopy (1H-spectroscopy) and Lipoprotein Kinetic, in Patients With Type 2 Diabetes Unknown status NCT02721888 Phase 4 Liraglutide;MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy)
7 To Compare the Efficacy and Safety Between Pioglitazone Added to Combination Therapy of Sulfonylurea Plus Metformin and Placebo Control Group in Patients With Type 2 Diabetes Unknown status NCT00991055 Phase 4 Pioglitazone
8 Placebo Controlled Study Using Lovaza as Treatment for Non-Alcoholic Fatty Liver Disease Unknown status NCT00941642 Phase 4 Lovaza;placebo control
9 The Effects of OMACOR on the LDL Sub-fraction in Korean Type 2 Diabetic Patients With Combined Hyperlipidemia Unknown status NCT00758927 Phase 4 Omega-3 acid 4 grams per day;Placebo control
10 Effects of a Chronical Treatment With Benfotiamine in People With Type 2 Diabetes Mellitus on Pre- and Postprandial Endothelial Function, as Well as on the Function of the Autonomic Nervous System Unknown status NCT00446810 Phase 4 Benfotiamine;Placebo
11 A Phase IV 48 Week, Open Label, Pilot Study of Darunavir Boosted by Cobicistat in Combination With Rilpivirine to Treat HIV+ Naïve Subjects (PREZENT) Unknown status NCT02404233 Phase 4 darunavir/cobicistat;rilpivirine
12 Efficacy and Safety of Certican® in Combination With Myfortic® in Adult Renal Allograft Recipients Following Calcineurin Inhibitor Withdrawal at Week 16 Compared to Patients Who Are Maintained on Tacrolimus and Myfortic® Unknown status NCT01399242 Phase 4 Certican
13 Effects of Fenofibrate on Adipocytokine Levels In Hypertriglyceridemic Patients Completed NCT00745407 Phase 4 fenofibrate
14 Vascular and Metabolic Effects of Fenofibrate/Omega vs Fenofibrate Completed NCT01666041 Phase 4 placebo;fenofibrate/omega;fenofibrate
15 Vascular and Metabolic Effects of Omega-3 Fatty Acids Completed NCT01660932 Phase 4 placebo;omega
16 Comparison of Fenofibrate and Niacin in Patients With Hypertriglyceridemia and Low High-Density Lipoprotein (HDL)-Cholesterol Completed NCT01122355 Phase 4 lipid modification
17 Estimation of Carbohydrate Metabolism Disorder Frequency in Hypertriglyceridemia Induced by Bexarotene Treatment of Cutaneous T Cell Lymphoma - Pilote Study Completed NCT01569724 Phase 4
18 Differential Metabolic Effects of Fenofibrate and Fatty Acid Completed NCT01003847 Phase 4 fenofibrate, fatty acid, placebo
19 A Double-blind, Double Dummy, Phase IV, Randomized, Multicenter, Parallel Group, Placebo Controlled Trial to Evaluate the Effect of Rosuvastatin on Triglycerides Levels in Mexican Hypertriglyceridemic Patients Completed NCT00473655 Phase 4 rosuvastatin
20 Efficacy and Safety of Prescription Omega-3 Fatty Acid Added to Stable Statin Therapy in Patients With Type 2 Diabetes and Hypertriglyceridemia Completed NCT02305355 Phase 4 Omega-3-acids ethylesters 90 4g;Pravastatin, Simvastatin, Atorvastatin, Rosuvastatin
21 Omega-3 Fatty Acids (Lovaza) for Second Generation Antipsychotic-Associated Hypertriglyceridemia Completed NCT00833976 Phase 4 Lovaza
22 A Randomized, Double-Blind, Placebo-Controlled Study of N-3 Fatty Acid on Plasma Triglyceride Levels in Hypertriglyceridemic HIV Patients Receiving Highly Active Antiretroviral Therapy Completed NCT00346697 Phase 4 Omega-3 fatty acid administration;Placebo
23 A Pilot, Open-Label Study of Adjunctive Therapy With Lovaza® in Hypertriglyceridemic, HIV-Infected Subjects Who Switched Protease Inhibitor to Once-Daily Lexiva® 1400mg Plus Norvir® 100mg Plus Optimized Background Completed NCT01010399 Phase 4 fosamprenavir/ritonavir
24 Effects of Exenatide on Postprandial Hyperlipidemia and Inflammation Completed NCT00974272 Phase 4 Exenatide
25 Regulation of Lipoprotein Kinetics by Atorvastatin and Fenofibrate With the Metabolic Syndrome Completed NCT00632840 Phase 4 Atorvastatin and fenofibrate
26 A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Phase IV Study to Assess the Efficacy and Safety of Adjunctive Omacor Therapy in Hypertriglyceridemic Subjects Treated With Antara, Followed by an 8-week Extension Completed NCT00246636 Phase 4 Antara (fenofibrate) + Lovaza;Antara (fenofibrate)
27 A Second Open-Label Extension of a Double-Blind, Parallel, Phase IV Study to Assess the Efficacy and Safety of Adjunctive Lovaza® (Formerly Known as Omacor®) Therapy in Hypertriglyceridemic Subjects Treated With Antara™ Completed NCT00891293 Phase 4 Antara (fenofibrate) + Lovaza (omega-3-acid ethyl esters)
28 Effects of Omega-3 Fatty Acids From Fish Oil on the Gene Expression in Healthy Humans and Humans With Hypertriglyceridemia Completed NCT01089231 Phase 4
29 Effect of Crocus Sativus (Saffron) and Berberis Vulgaris (Barberry Fruit) on Metabolic Syndrome Completed NCT01625442 Phase 4 Saffron tablet;Barberry tablet;Placebo
30 Exploratory Study of the Effect of Omega-3-acid Ethyl Esters on Vascular Endothelial Function in Patients With Hyperlipidemia by Flow Mediated Dilation Completed NCT02824432 Phase 4 TAK-085
31 Effects of Fenofibrate on Endothelial Progenitor Cell Levels in Diabetic Patients With Retinopathy. A Randomized Controlled Trial. Completed NCT01927315 Phase 4 Fenofibrate 145 mg;Placebo
32 An Open-label, Multi-center Study to Evaluate the Efficacy and Safety of Statin-fenofibrate Combination Therapy in Dyslipidemic Chinese Patients Completed NCT01462877 Phase 4 fenofibrate
33 Multicenter,Double Blind,Randomized, 2-period, Crossover Study to Compare Ezetimibe/Simvastatin (10mg/10 mg) Combination Tablet Versus Simvastatin 80mg Tablet on Postprandial Arterial Endothelial Function in Patients With Metabolic Syndrome Completed NCT00817843 Phase 4 Simvastatin;Simvastatin/Ezetimibe
34 Effect of Plant Sterols Esterified to Fish Oil Fatty Acids on Plasma Lipid Levels in Healthy, Hyperlipidemic Subjects Completed NCT00441480 Phase 4
35 Effect of Different Enteral Nutrition Formulas on Glucose Homeostasis Completed NCT03012867 Phase 4
36 The Role of Lovaza® on Microvascular Function and Lipoprotein Profile in Type 2 Diabetes Completed NCT00931879 Phase 4 omega-3-ethyl esters;Placebo
37 Study of Niacin and Rosiglitazone in Dysmetabolic Dyslipidemia Completed NCT00304993 Phase 4 fenofibrate;niacin;rosiglitazone
38 Qualitative and Quantitative Characterization of HDL in T2D After Fenofibrate or Niacin Treatment in Spanish Population Completed NCT02153879 Phase 4 Fenofibrate;Niacin plus laropiprant
39 Mentored Patient Oriented Research Career Development Award Completed NCT00361075 Phase 4 transdermal estradiol patch (Vivelle), oral estrogen (Estrace), progesterone (Prometrium)
40 Nephropathy in Type 2 Diabetes: Effects of an Intensive Multifactorial Intervention Trial on Cardio-renal Events. Completed NCT00535925 Phase 4 SoC therapy;irbesartan;ramipril;hydrochlorothiazide;furosemide;amlodipine;atenolol;doxazosin;clonidine;insulin;simvastatin;fibrate;erythropoietin;aspirin
41 The Impact of Omega Three Fatty Acids on Vascular Function in HIV Completed NCT01041521 Phase 4 Lovaza
42 The Effects of Night-time Versus Morning Administration of Eplerenone on the Diurnal Variation of Plasminogen Activator Inhibitor-1 Completed NCT00515021 Phase 4 Eplerenone (Morning);Eplerenone (Night-time)
43 Weight Loss Improves Renal Hemodynamics in Patients With Metabolic Syndrome Completed NCT01356394 Phase 4
44 Effects of Treatment With Omacor for 6 Weeks on Preprandial and Postprandial Endothelial Function Following a High Fat Meal in Patients With Type 2 Diabetes Mellitus Completed NCT00328536 Phase 4 Omacor
45 The Effects of Ezetimibe on Postprandial Hyperlipidemia and Endothelial Dysfunction in Patients With the Metabolic Syndrome. Completed NCT00189085 Phase 4 simvastatin and ezetimibe
46 A Phase IV-III Comparative, Randomized, Open-label Study to Evaluate the Efficacy for the Recovery of Peripheral Fat (or of the Extremities) of Lopinavir/Ritonavir in Monotherapy Versus Abacavir/Lamivudine and Lopinavir/Ritonavir Completed NCT00865007 Phase 4 Monotherapy (Lopinavir/ritonavir);Monotherapy (Lopinavir/ritonavir) + ABC/3TC
47 Niacin, N-3 Fatty Acids and Insulin Resistance Completed NCT00286234 Phase 4 omega-3 acid ethyl esters;extended release niacin;placebo;omega-3 acid ethyl esters;combined treatment
48 Efficacy and Safety of a Mixed Extract of Fenugreek Seed and Lespedeza Cuneata in the Treatment of Testosterone Deficiency Syndrome: A Randomized, Double-blind, Placebo-Controlled Clinical Trial Completed NCT03057899 Phase 4 TFG capsules (200 mg /capsule);Placebo oral capsule
49 Omega-3 PUFA Suppress Adipochemokines Completed NCT02010359 Phase 4 Lovaza;Placebo
50 Early Effect Of Bezafibrate On Fibrinogen Levels, Inflammatory Response And Clinical Impact, In Patients With ST Elevation Acute Myocardial Infarction Completed NCT02291796 Phase 4 Bezafibrate

Search NIH Clinical Center for Hypertriglyceridemia, Familial

Inferred drug relations via UMLS 71 / NDF-RT 50 :


atorvastatin
Atorvastatin calcium
cerivastatin
Cerivastatin sodium
Cholestyramine Resin
Clofibrate
colesevelam
Colesevelam hydrochloride
Colestipol
Colestipol Hydrochloride
Fenofibrate
fluvastatin
Fluvastatin sodium
Gemfibrozil
Lovastatin
pitavastatin
Pravastatin
Pravastatin Sodium
rosuvastatin
Simvastatin

Genetic Tests for Hypertriglyceridemia, Familial

Genetic tests related to Hypertriglyceridemia, Familial:

# Genetic test Affiliating Genes
1 Hypertriglyceridemia 29
2 Hypertriglyceridemia, Susceptibility to 29

Anatomical Context for Hypertriglyceridemia, Familial

MalaCards organs/tissues related to Hypertriglyceridemia, Familial:

40
Liver, Heart, Kidney, Endothelial, Testes, Lung, Brain

Publications for Hypertriglyceridemia, Familial

Articles related to Hypertriglyceridemia, Familial:

(show top 50) (show all 10863)
# Title Authors PMID Year
1
A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia. 54 6 56 61
12915450 2003
2
An APOA5 3' UTR variant associated with plasma triglycerides triggers APOA5 downregulation by creating a functional miR-485-5p binding site. 61 6 56
24387992 2014
3
Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia. 61 56
24268658 2013
4
Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 6 61
22962670 2012
5
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. 61 56
20657596 2010
6
Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans. 61 6
12719377 2003
7
Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene. 61 6
12764676 2003
8
Cardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective study. 56 61
10859281 2000
9
A major susceptibility locus influencing plasma triglyceride concentrations is located on chromosome 15q in Mexican Americans. 61 56
10729112 2000
10
Pancreatitis, familial hypertriglyceridemia, and pregnancy. 56 61
7355961 1980
11
Hypertriglyceridemia associated with deficiency of apolipoprotein C-II. 56 61
565877 1978
12
Segregation and linkage analyses of a large pedigree with hypertriglyceridemia. 56 61
610428 1977
13
Evidence for diabetes mellitus and genetic forms of hypertriglyceridemia as independent entities. 61 56
1165727 1975
14
Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. 61 56
4718953 1973
15
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 56
25487149 2015
16
Differential pattern of RP1 mutations in retinitis pigmentosa. 6
20664799 2010
17
Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels. 6
12417524 2002
18
Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides. 6
12417525 2002
19
An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing. 6
11588264 2001
20
Linkage of human apolipoproteins A-I and C-III genes. 56
6308458 1983
21
DNA polymorphism adjacent to human apoprotein A-1 gene: relation to hypertriglyceridaemia. 56
6131168 1983
22
The effect of PPAR-alpha agonism on apolipoprotein metabolism in humans. 61 54
20005515 2010
23
Apolipoprotein C-III and the metabolic basis for hypertriglyceridemia and the dense low-density lipoprotein phenotype. 61 54
20368524 2010
24
Relationships between serum lipid, lipoprotein, triglyceride-rich lipoprotein, and high-density lipoprotein particle concentrations in post-renal transplant patients. 54 61
20349521 2010
25
Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study. 54 61
20429872 2010
26
[Paraoxonase 1 (PON1) activity and lipid parameters in Tunisian smokers]. 54 61
20348046 2010
27
Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease. 54 61
20335584 2010
28
[Prevalence of liver disease markers among patients with metabolic risk factors]. 61 54
20394204 2010
29
The common biological basis for common complex diseases: evidence from lipoprotein lipase gene. 61 54
19639021 2010
30
Alipogene tiparvovec, an adeno-associated virus encoding the Ser(447)X variant of the human lipoprotein lipase gene for the treatment of patients with lipoprotein lipase deficiency. 54 61
20072945 2009
31
Lipid modification in type 2 diabetes: the role of LDL and HDL. 61 54
19650852 2009
32
Causes of dysregulation of lipid metabolism in chronic renal failure. 61 54
20017835 2009
33
Association between sequence variant of c.553 G > T in the apolipoprotein A5 gene and metabolic syndrome, insulin resistance, and carotid atherosclerosis. 61 54
19665689 2009
34
Metabolic consequences of peritoneal dialysis treatment. 61 54
19859052 2009
35
Correlation of non-high-density lipoprotein cholesterol and low-density lipoprotein cholesterol with apolipoprotein B during simvastatin + fenofibrate therapy in patients with combined hyperlipidemia (a subanalysis of the SAFARI trial). 61 54
19660610 2009
36
Glycated albumin and direct low density lipoprotein cholesterol levels in type 2 diabetes mellitus. 54 61
19465013 2009
37
[Gene-nutrient interaction and its association with obesity and diabetes mellitus]. 54 61
19768241 2009
38
Apolipoprotein B100 acts as a molecular link between lipid-induced endoplasmic reticulum stress and hepatic insulin resistance. 54 61
19434737 2009
39
Plasma phospholipid transfer protein (PLTP): review of an emerging cardiometabolic risk factor. 61 54
19413703 2009
40
TRIB3 functional Q84R polymorphism is a risk factor for metabolic syndrome and carotid atherosclerosis. 54 61
19389818 2009
41
Lipoprotein lipase mutation S447X associated with pancreatic calcification and steatorrhea in hyperlipidemic pancreatitis. 54 61
19034041 2009
42
The link between human and transgenic animal studies involving postprandial hypertriglyceridemia and CETP gene polymorphisms. 61 54
19557147 2009
43
Metabolic syndrome-From human organ disease to laminar failure in equids. 61 54
19110319 2009
44
Inflammatory NF-kappaB activation promotes hepatic apolipoprotein B100 secretion: evidence for a link between hepatic inflammation and lipoprotein production. 54 61
19342510 2009
45
Refining lipoprotein assessment in diabetes: apolipoprotein B makes sense. 61 54
19454383 2009
46
Liver-specific loss of lipolysis-stimulated lipoprotein receptor triggers systemic hyperlipidemia in mice. 61 54
19188430 2009
47
Bexarotene induces dyslipidemia by increased very low-density lipoprotein production and cholesteryl ester transfer protein-mediated reduction of high-density lipoprotein. 54 61
19147676 2009
48
Capillary isotachophoresis study of lipoprotein network sensitive to apolipoprotein E phenotype. 1. ApoE distribution between lipoproteins. 54 61
19139973 2009
49
Plasma apolipoprotein AV levels in mice are positively associated with plasma triglyceride levels. 61 54
19141870 2009
50
Mutation screening of apical sodium-dependent bile acid transporter (SLC10A2): novel haplotype block including six newly identified variants linked to reduced expression. 54 61
19184108 2009

Variations for Hypertriglyceridemia, Familial

ClinVar genetic disease variations for Hypertriglyceridemia, Familial:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CELA2A NM_033440.3(CELA2A):c.209C>T (p.Thr70Met)SNV Pathogenic 633595 1:15788135-15788135 1:15461640-15461640
2 CELA2A NM_033440.3(CELA2A):c.253C>A (p.Leu85Met)SNV Pathogenic 633593 1:15789253-15789253 1:15462758-15462758
3 CELA2A NM_033440.3(CELA2A):c.361G>A (p.Asp121Asn)SNV Pathogenic 633592 1:15789885-15789885 1:15463390-15463390
4 CELA2A NM_033440.3(CELA2A):c.639+1G>CSNV Pathogenic 633594 1:15792640-15792640 1:15466145-15466145
5 APOA5 NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter)SNV Pathogenic 381733 rs201079485 11:116661656-116661656 11:116790940-116790940
6 APOA5 NM_001371904.1(APOA5):c.553G>T (p.Gly185Cys)SNV risk factor 4402 rs2075291 11:116661392-116661392 11:116790676-116790676
7 APOA5 NM_001371904.1(APOA5):c.56C>G (p.Ser19Trp)SNV risk factor 4403 rs3135506 11:116662407-116662407 11:116791691-116791691
8 APOA5 NM_001371904.1(APOA5):c.*158C>TSNV risk factor 127141 rs2266788 11:116660686-116660686 11:116789970-116789970
9 46;XY;t(16;20)(q23.1;p11.22)Translocation Uncertain significance 267924
10 LIPI NM_001302998.2(LIPI):c.164G>A (p.Cys55Tyr)SNV Uncertain significance 1822 rs11909217 21:15561623-15561623 21:14189302-14189302
11 RP1 NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr)SNV Benign/Likely benign 5969 rs2293869 8:55539395-55539395 8:54626835-54626835

UniProtKB/Swiss-Prot genetic disease variations for Hypertriglyceridemia, Familial:

73
# Symbol AA change Variation ID SNP ID
1 LIPI p.Cys55Tyr VAR_023760 rs11909217

Expression for Hypertriglyceridemia, Familial

Search GEO for disease gene expression data for Hypertriglyceridemia, Familial.

Pathways for Hypertriglyceridemia, Familial

Pathways related to Hypertriglyceridemia, Familial according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.87 SLC10A2 LPL LIPI LIPC INS CETP
2
Show member pathways
12.47 LPL APOE APOC3 APOC2 APOB APOA2
3
Show member pathways
12.16 SERPINE1 INS APOE APOB APOA1
4
Show member pathways
12.03 LPL APOE APOC3 APOC2 APOB APOA2
5
Show member pathways
11.9 LPL LIPI LIPC CETP APOE APOC3
6 11.81 SERPINE1 LPL INS
7 11.76 APOE APOA5 APOA1
8
Show member pathways
11.73 LPL LIPC CETP APOE APOC3 APOC2
9
Show member pathways
11.65 APOE APOB APOA1
10 11.54 LPL APOC3 APOA5 APOA2 APOA1
11 11.08 APOC3 APOA5 APOA2 APOA1
12 10.9 APOB APOA1
13 10.77 APOA2 APOA1

GO Terms for Hypertriglyceridemia, Familial

Cellular components related to Hypertriglyceridemia, Familial according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.21 SERPINE1 LPL LIPI LIPC INS CETP
2 extracellular exosome GO:0070062 10.1 SERPINE1 CETP APOE APOC3 APOB APOA2
3 extracellular space GO:0005615 10.1 SERPINE1 LPL LIPI LIPC INS CETP
4 endoplasmic reticulum lumen GO:0005788 10.02 LIPC INS APOE APOB APOA5 APOA2
5 early endosome GO:0005769 10 APOE APOC3 APOC2 APOB APOA5 APOA2
6 collagen-containing extracellular matrix GO:0062023 9.84 SERPINE1 APOE APOC3 APOA1
7 low-density lipoprotein particle GO:0034362 9.8 APOE APOC2 APOB APOA5 APOA1
8 chylomicron GO:0042627 9.76 LPL APOE APOC3 APOC2 APOB APOA5
9 spherical high-density lipoprotein particle GO:0034366 9.73 APOC3 APOC2 APOA2 APOA1
10 blood microparticle GO:0072562 9.72 APOE APOA2 APOA1
11 intermediate-density lipoprotein particle GO:0034363 9.72 APOE APOC3 APOC2 APOB APOA1
12 endocytic vesicle lumen GO:0071682 9.67 APOE APOB APOA1
13 high-density lipoprotein particle GO:0034364 9.56 LIPC CETP APOE APOC2 APOB APOA5
14 endosome lumen GO:0031904 9.52 INS APOB
15 discoidal high-density lipoprotein particle GO:0034365 9.51 APOE APOA1
16 very-low-density lipoprotein particle GO:0034361 9.23 LPL APOE APOC3 APOC2 APOB APOA5

Biological processes related to Hypertriglyceridemia, Familial according to GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.23 LPL LIPI LIPC CETP APOE APOC3
2 cellular protein metabolic process GO:0044267 10.11 INS APOE APOB APOA5 APOA2 APOA1
3 lipid transport GO:0006869 10.11 CETP APOE APOC3 APOC2 APOB APOA5
4 lipid catabolic process GO:0016042 10.09 LPL LIPI LIPC APOC3 APOC2 APOB
5 post-translational protein modification GO:0043687 10.08 APOE APOB APOA5 APOA2 APOA1
6 cholesterol metabolic process GO:0008203 10.06 LIPC CETP APOE APOB APOA2 APOA1
7 response to drug GO:0042493 10.03 LPL APOC2 APOA2 APOA1
8 triglyceride metabolic process GO:0006641 10.02 LPL CETP APOE APOC3 APOA5 APOA2
9 retinoid metabolic process GO:0001523 10.02 LPL APOE APOC3 APOC2 APOB APOA2
10 intermembrane lipid transfer GO:0120009 10 CETP APOE APOB APOA2 APOA1
11 triglyceride catabolic process GO:0019433 10 LPL LIPI LIPC APOC3 APOB APOA5
12 steroid metabolic process GO:0008202 9.98 CETP APOE APOB APOA1
13 cholesterol transport GO:0030301 9.97 LIPC CETP APOB APOA2 APOA1
14 lipoprotein metabolic process GO:0042157 9.97 APOE APOC3 APOB APOA5 APOA2 APOA1
15 low-density lipoprotein particle remodeling GO:0034374 9.96 LIPC CETP APOE APOB APOA2
16 reverse cholesterol transport GO:0043691 9.95 LIPC CETP APOE APOC3 APOC2 APOA2
17 chylomicron remnant clearance GO:0034382 9.93 LIPC APOE APOC3 APOC2 APOB
18 chylomicron assembly GO:0034378 9.93 APOE APOC3 APOC2 APOB APOA2 APOA1
19 receptor-mediated endocytosis GO:0006898 9.92 APOE APOB APOA1
20 positive regulation of lipid biosynthetic process GO:0046889 9.92 INS APOE APOA5 APOA1
21 high-density lipoprotein particle assembly GO:0034380 9.92 APOE APOA5 APOA2 APOA1
22 high-density lipoprotein particle clearance GO:0034384 9.91 APOE APOC2 APOA2 APOA1
23 phospholipid efflux GO:0033700 9.91 APOE APOC3 APOC2 APOA5 APOA2 APOA1
24 high-density lipoprotein particle remodeling GO:0034375 9.91 LIPC CETP APOE APOC3 APOC2 APOA2
25 regulation of lipid metabolic process GO:0019216 9.9 APOA5 APOA2 APOA1
26 positive regulation of catalytic activity GO:0043085 9.9 APOE APOC2 APOA2
27 fatty acid biosynthetic process GO:0006633 9.89 LPL LIPI LIPC
28 positive regulation of cholesterol esterification GO:0010873 9.89 APOE APOA5 APOA2 APOA1
29 very-low-density lipoprotein particle remodeling GO:0034372 9.87 LPL LIPC CETP APOE APOC2 APOA5
30 negative regulation of lipid catabolic process GO:0050995 9.85 INS APOC3 APOA2
31 phosphatidylcholine metabolic process GO:0046470 9.84 CETP APOA5 APOA1
32 positive regulation of fatty acid biosynthetic process GO:0045723 9.84 APOC2 APOA5 APOA1
33 positive regulation of lipoprotein lipase activity GO:0051006 9.83 APOC2 APOA5 APOA1
34 positive regulation of triglyceride catabolic process GO:0010898 9.83 APOC2 APOA5 APOA1
35 regulation of Cdc42 protein signal transduction GO:0032489 9.83 APOE APOC3 APOA1
36 lipoprotein biosynthetic process GO:0042158 9.82 APOE APOB APOA1
37 regulation of intestinal cholesterol absorption GO:0030300 9.82 APOA5 APOA2 APOA1
38 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.81 APOC2 APOA5 APOA2
39 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.8 APOC3 APOA2 APOA1
40 chylomicron remodeling GO:0034371 9.8 LPL APOE APOC3 APOC2 APOB APOA2
41 negative regulation of protein secretion GO:0050709 9.75 INS APOE
42 artery morphogenesis GO:0048844 9.74 APOE APOB
43 positive regulation of receptor-mediated endocytosis GO:0048260 9.74 SERPINE1 APOA5
44 positive regulation of nitric-oxide synthase activity GO:0051000 9.74 INS APOE
45 positive regulation of cholesterol efflux GO:0010875 9.74 APOE APOA1
46 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.74 LPL APOB
47 fatty acid homeostasis GO:0055089 9.74 INS APOE
48 lipoprotein transport GO:0042953 9.74 APOC2 APOB
49 negative regulation of blood coagulation GO:0030195 9.73 SERPINE1 APOE
50 positive regulation of lipid storage GO:0010884 9.73 LPL APOB

Molecular functions related to Hypertriglyceridemia, Familial according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.97 SERPINE1 LPL APOE APOA2 APOA1
2 lipid binding GO:0008289 9.91 CETP APOE APOC3 APOC2 APOA5 APOA2
3 heparin binding GO:0008201 9.88 LPL LIPI LIPC APOE APOB APOA5
4 lipid transporter activity GO:0005319 9.8 APOE APOB APOA2 APOA1
5 carboxylic ester hydrolase activity GO:0052689 9.77 LPL LIPI LIPC
6 phosphatidylcholine binding GO:0031210 9.76 CETP APOA5 APOA2 APOA1
7 phospholipase activity GO:0004620 9.73 LPL LIPI LIPC
8 phospholipid binding GO:0005543 9.73 APOE APOC3 APOB APOA5 APOA2 APOA1
9 cholesterol binding GO:0015485 9.72 CETP APOC3 APOA5 APOA2 APOA1
10 low-density lipoprotein particle receptor binding GO:0050750 9.71 APOE APOB APOA5
11 lipase activity GO:0016298 9.7 LPL LIPI LIPC
12 lipoprotein particle binding GO:0071813 9.69 LPL APOE APOA1
13 lipoprotein lipase activity GO:0004465 9.65 LPL LIPI LIPC
14 triglyceride lipase activity GO:0004806 9.64 LPL LIPC
15 high-density lipoprotein particle binding GO:0008035 9.63 APOA2