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 57 72
Hypertriglyceridemia 57 36 29 54 6 39 17 70
Hypertriglyceridemia, Susceptibility to 57 29 13 6 39
Hypertriglyceridemias Familial 54
Fhtr 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
hypertriglyceridemia, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 145750
KEGG 36 H01637
MeSH 44 D006953
MedGen 41 C0020480
SNOMED-CT via HPO 68 263681008 74728003
UMLS 70 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 Metformin and Ciprofibrate 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® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 457)
# Related Disease Score Top Affiliating Genes
1 apolipoprotein c-ii deficiency 31.8 LPL APOC2
2 lipase deficiency, combined 31.7 LPL LIPC
3 acute pancreatitis 31.2 LPL INS APOC2
4 pancreatitis 31.1 LPL INS APOC2 APOA5
5 familial lipoprotein lipase deficiency 30.6 LPL LIPC APOE APOC3 APOC2 APOB
6 hyperinsulinism 30.3 SERPINE1 LPL INS APOB
7 hyperglycemia 30.1 SERPINE1 LPL INS APOB
8 uremia 30.1 LPL INS APOC3
9 hypoalphalipoproteinemia 30.1 LIPC APOA2 APOA1
10 xanthomatosis 29.9 LPL APOE APOB
11 tangier disease 29.8 LPL CETP APOE APOC3 APOB APOA2
12 xanthoma disseminatum 29.8 APOE APOB
13 peripheral artery disease 29.6 APOE APOB APOA1
14 hyperlipoproteinemia, type i 29.6 LPL LIPC CETP APOE APOC3 APOC2
15 non-alcoholic steatohepatitis 29.5 SERPINE1 INS APOE
16 intermediate coronary syndrome 29.5 INS APOB APOA1
17 arteries, anomalies of 29.5 SERPINE1 INS APOE APOB APOA1
18 sitosterolemia 29.4 APOC2 APOB APOA5 APOA1
19 familial apolipoprotein c-ii deficiency 29.4 LPL CETP APOE APOC3 APOC2 APOB
20 arteriosclerosis 29.4 SERPINE1 INS APOE APOB APOA1
21 nephrotic syndrome 29.4 LPL CETP APOE APOB APOA1
22 non-alcoholic fatty liver disease 29.4 SERPINE1 LPL INS APOE APOC3 APOB
23 type 1 diabetes mellitus 29.3 INS CETP APOB APOA1
24 hyperlipoproteinemia, type iv 29.3 SLC10A2 LPL CREB3L3 CETP APOE APOC3
25 hypothyroidism 29.3 LIPC INS CETP APOB APOA1
26 aortic atherosclerosis 29.1 LPL CETP APOE APOB
27 platelet glycoprotein iv deficiency 29.1 LPL INS APOE APOB
28 homozygous familial hypercholesterolemia 29.1 LIPC APOE APOB APOA2 APOA1
29 hyperlipidemia, familial combined, 3 29.1 LPL LIPC INS CETP APOE APOC3
30 polyneuropathy 29.0 INS APOA2 APOA1
31 abdominal obesity-metabolic syndrome 1 28.9 SERPINE1 LPL INS APOB APOA1
32 prediabetes syndrome 28.9 SERPINE1 INS APOB APOA1
33 sleep apnea 28.9 SERPINE1 INS APOE APOB
34 huntington disease-like 1 28.7 CETP APOE APOB APOA2 APOA1
35 hypercholesterolemia, familial, 1 28.7 SLC10A2 LPL LIPC INS CETP APOE
36 peripheral vascular disease 28.6 SERPINE1 CETP APOB APOA2 APOA1
37 cerebrovascular disease 28.6 SERPINE1 LPL INS APOE APOB APOA1
38 kidney disease 28.6 SERPINE1 INS CETP APOE APOC3 APOB
39 type 2 diabetes mellitus 28.5 SERPINE1 LPL LIPC INS CETP APOE
40 coronary stenosis 28.4 SERPINE1 LPL CETP APOE APOB APOA1
41 abetalipoproteinemia 28.4 LPL CETP APOE APOC2 APOB APOA1
42 lipid metabolism disorder 28.3 SERPINE1 LPL LIPC INS CETP APOE
43 chronic kidney disease 28.3 SERPINE1 LPL LIPC INS CETP APOE
44 hyperlipoproteinemia, type iii 28.2 LPL LIPC CETP APOE APOC2 APOB
45 hyperalphalipoproteinemia 1 28.1 LPL LIPC CETP APOC3 APOB APOA2
46 hypolipoproteinemia 28.0 LPL CETP APOE APOC3 APOC2 APOB
47 hyperlipoproteinemia, type v 28.0 LPL LOC108491825 INS APOE APOC3 APOC2
48 heart disease 27.9 SERPINE1 LPL INS CETP APOE APOC3
49 coronary heart disease 1 27.9 SERPINE1 LPL LIPC INS CETP APOE
50 inherited metabolic disorder 27.9 LPL INS CETP APOE APOC3 APOB

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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 APOA1 APOA2 APOA5 APOB APOC2 APOE
2 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 189)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 4091 14219
2
Ciprofibrate Approved, Investigational Phase 4 52214-84-3 2763
3
Saxagliptin Approved Phase 4 361442-04-8 11243969
4
Glucagon Approved Phase 4 16941-32-5
5
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
6
Pravastatin Approved Phase 4 81093-37-0 54687
7
Simvastatin Approved Phase 4 79902-63-9 54454
8
Atorvastatin Approved Phase 4 134523-00-5 60823
9
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
10
Bexarotene Approved, Investigational Phase 4 153559-49-0 82146
11
Amlodipine Approved Phase 4 88150-42-9 2162
12
Clonidine Approved Phase 4 4205-90-7 2803
13
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
14
Ramipril Approved Phase 4 87333-19-5 5362129
15
Doxazosin Approved Phase 4 74191-85-8 3157
16
Atenolol Approved Phase 4 29122-68-7 2249
17
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
18
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
19
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
20
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
21
Ezetimibe Approved Phase 4 163222-33-1 150311
22
Fenofibrate Approved Phase 4 49562-28-9 3339
23 Fenofibric acid Approved Phase 4 42017-89-0
24
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
25
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
26
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
27 Hypoglycemic Agents Phase 4
28
protease inhibitors Phase 4
29 HIV Protease Inhibitors Phase 4
30 Dipeptidyl-Peptidase IV Inhibitors Phase 4
31 Glucagon-Like Peptide 1 Phase 4
32 Incretins Phase 4
33 Hormone Antagonists Phase 4
34 Lipid Regulating Agents Phase 4
35 Clofibric Acid Phase 4 882-09-7
36 Platelet Aggregation Inhibitors Phase 4
37 Nicotinic Acids Phase 4
38 Eicosapentaenoic acid ethyl ester Phase 4
39 Vitamin B3 Phase 4
40 Cytochrome P-450 Enzyme Inhibitors Phase 4
41 Anti-Retroviral Agents Phase 4
42 Antiviral Agents Phase 4
43 Anti-HIV Agents Phase 4
44 Analgesics, Non-Narcotic Phase 4
45 Analgesics Phase 4
46 Fibrinolytic Agents Phase 4
47 Antirheumatic Agents Phase 4
48 Cyclooxygenase Inhibitors Phase 4
49 Antipyretics Phase 4
50 Anti-Inflammatory Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 232)
# 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 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
3 Effects of Fish Oil Supplementation on Vascular Structure and Function in Hypertensive Patients With Hypertriglyceridemia Unknown status NCT01480687 Phase 4 Ciprofibrate
4 Randomized, Controlled, Open-label Trial of Intravenous Intensive Insulin for Severe/Moderate Hypertriglyceridemia Pancreatitis. Unknown status NCT03501680 Phase 4 Insulin
5 Randomized, Controlled, Multicenter Studies of the Effects of Intravenous Administration of Insulin and Plasma Exchange on Triglyceride Levels in Early Stage of Hypertriglyceridemia-induced Pancreatitis Unknown status NCT03342807 Phase 4 Insulin
6 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
7 Study of the Effects of Lovaza (Omega 3 Fatty Acids) On Lipoprotein Particles and Their Transcriptional Effects Unknown status NCT01301794 Phase 4
8 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
9 Effects of Dipeptidyl Peptidase-4 Inhibition With Saxagliptin on Fasting and Postprandial Triglyceride Concentrations Unknown status NCT01527747 Phase 4 Saxagliptin
10 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
11 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
12 Estimation of Carbohydrate Metabolism Disorder Frequency in Hypertriglyceridemia Induced by Bexarotene Treatment of Cutaneous T Cell Lymphoma - Pilote Study Completed NCT01569724 Phase 4
13 Effect of Crocus Sativus (Saffron) and Berberis Vulgaris (Barberry Fruit) on Metabolic Syndrome Completed NCT01625442 Phase 4 Saffron tablet;Barberry tablet;Placebo
14 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
15 Comparison of Fenofibrate and Niacin in Patients With Hypertriglyceridemia and Low High-Density Lipoprotein (HDL)-Cholesterol Completed NCT01122355 Phase 4 lipid modification
16 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
17 Effects of Omega-3 Fatty Acids From Fish Oil on the Gene Expression in Healthy Humans and Humans With Hypertriglyceridemia Completed NCT01089231 Phase 4
18 Omega-3 Fatty Acids (Lovaza) for Second Generation Antipsychotic-Associated Hypertriglyceridemia Completed NCT00833976 Phase 4 Lovaza
19 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)
20 Effect of Vascepa on Progression of Coronary Atherosclerosis in Persons With Elevated Triglycerides (200-499) on Statin Therapy Completed NCT02926027 Phase 4 Vascepa;placebo
21 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
22 Differential Metabolic Effects of Fenofibrate and Fatty Acid Completed NCT01003847 Phase 4 fenofibrate, fatty acid, placebo
23 The Role of Lovaza® on Microvascular Function and Lipoprotein Profile in Type 2 Diabetes Completed NCT00931879 Phase 4 omega-3-ethyl esters;Placebo
24 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)
25 Vascular and Metabolic Effects of Fenofibrate/Omega vs Fenofibrate Completed NCT01666041 Phase 4 placebo;fenofibrate/omega;fenofibrate
26 Vascular and Metabolic Effects of Omega-3 Fatty Acids Completed NCT01660932 Phase 4 placebo;omega
27 Effects of Fenofibrate on Adipocytokine Levels In Hypertriglyceridemic Patients Completed NCT00745407 Phase 4 fenofibrate
28 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
29 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
30 The Impact of Omega Three Fatty Acids on Vascular Function in HIV Completed NCT01041521 Phase 4 Lovaza
31 Regulation of Lipoprotein Kinetics by Atorvastatin and Fenofibrate With the Metabolic Syndrome Completed NCT00632840 Phase 4 Atorvastatin and fenofibrate
32 A Multi-center, Randomized, Open-label, Active-controlled, Phase IV Clinical Trial to Evaluate the Efficacy and Safety of EzetimiBe/Rosuvastatin Diabetic Dislipidemia With Hypertriglyceridaemia Recruiting NCT04700436 Phase 4 Rosuzet tablet 10/5 mg (Ezetimibe 10 mg/Rosuvastatin 5 mg)
33 Mechanisms of Atheroprotection by Fenofibric Acid (ABT 335) Added to a Statin in Subjects With Insulin Resistance (Hypertriglyceridemia and Low HDL-C) Terminated NCT01025492 Phase 4 Trilipix;placebo
34 Rosiglitazone And Fenofibrate Additive Effects on Lipids (RAFAEL) Terminated NCT00819910 Phase 4 Rosiglitazone;Placebo (Rosiglitazone);Placebo (Fenofibrate);Fenofibrate
35 A Double-Blind, Placebo-Controlled, Parallel-Group, Multi-Center Study to Investigate the Effect of Omacor (n-3 PUFA) on Lipid Parameters in HIV Infected Subjects Treated With HAART Terminated NCT00598910 Phase 4 Omacor;Placebo
36 Effects of Lovaza Monotherapy vs. Placebo on Composition and Function of HDL and Other Lipoproteins, and on Other Lipid-Related Parameters Withdrawn NCT01180764 Phase 4 Lovaza (Omega-3 acid ethyl esters);Placebo
37 Open-label Study to Evaluate the Effects of Once Daily Extraneal (7.5% Icodextrin) Peritoneal Dialysis Solution on Triglyceride Levels in Peritoneal Dialysis Patients Withdrawn NCT00397358 Phase 4 Extraneal (7.5% icodextrin) Peritoneal Dialysis Solution
38 A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Phase III Study to Assess Efficacy and Safety of AKR-963 Therapy in Subjects With Severe Hypertriglyceridemia Unknown status NCT01229566 Phase 3 AKR-963
39 A 12-Week, Randomized, Double-Blind, Corn Oil-Controlled Phase 3 Study to Assess the Efficacy and Safety of Omega-3-Acid Ethyl Esters 90 Soft Capsules in Subjects With Severe Hypertriglyceridemia Unknown status NCT02625870 Phase 3 Omega-3-Acid Ethyl Esters 90 Soft Capsules;Corn Oil
40 Evaluation of the Efficacy and Safety of AMR101 (Ethyl Icosapentate) in Patients With Fasting Triglyceride Levels ≥ 500 mg/dL and ≤ 2000 mg/dL Completed NCT01047683 Phase 3 AMR101 (ethyl icosapentate);AMR101 (ethyl icosapentate);Placebo;Placebo
41 Evaluation of the Effect of Two Doses of AMR101 (Ethyl Icosapentate) on Fasting Serum Triglyceride Levels in Patients With Persistent High Triglyceride Levels (≥ 200 mg/dL and < 500 mg/dL) Despite Statin Therapy Completed NCT01047501 Phase 3 AMR101 (ethyl icosapentate);AMR101 (ethyl icosapentate);Placebo;Placebo
42 Phase 3 Study of Vitamin D and Omega-3 Supplementation to Reduce Risk of Metabolic Syndrome Completed NCT01326442 Phase 3
43 An Open Label Safety and Efficacy Trial of Fenofibrate in Persons With SCI Completed NCT02455336 Phase 2, Phase 3 Fenofibrate
44 A Placebo-Controlled, Multicenter, Randomized, Double-Blind, Parallel Group Study to Investigate the Efficacy and Safety of Omega-3-acid Ethyl Ester Over 12 Weeks in Chinese Subjects With Hypertriglyceridemia Completed NCT04756180 Phase 3 Omega-3-acid ethyl ester or Placebo
45 Phase 3, Multi-Site, Double-Blind, Randomized, Forced Titration, Parallel Group Evaluation Of The Efficacy, Safety, And Tolerability Of Fixed Combination Torcetrapib (CP 529,414)/Atorvastatin Administered Orally, Once Daily (Qd) For Eighteen Weeks, Compared With Atorvastatin Alone, In Subjects With Fredrickson Type IV Hypertriglyceridemia Completed NCT00134498 Phase 3 torcetrapib/atorvastatin;atorvastatin
46 A Phase 3, Multi-center, Multi-national, Placebo-controlled, Randomized, Double-blind 26 Week Study to Assess the Safety and Efficacy of CaPre® in Patients With Severe Hypertriglyceridemia Completed NCT03361501 Phase 3 CaPre;Placebo
47 Efficacy and Safety of Epanova® (Omefas) in Severe Hypertriglyceridemia Completed NCT01242527 Phase 2, Phase 3 placebo;omefas;omefas;omefas
48 The COMPASS Study: A Randomized, Double-Blind, Placebo-Controlled Phase 3 Study of ISIS 304801 Administered Subcutaneously to Patients With Hypertriglyceridemia Completed NCT02300233 Phase 3 volanesorsen;Placebo
49 Totum-63 Effect on Glucose and Lipid Homeostasis in People With Abdominal Obesity Associated With Impaired Glucose Tolerance or Untreated Type 2 Diabetes and Hypertriglyceridemia Completed NCT02868177 Phase 2, Phase 3
50 MND-2119 Phase 3 Study to Evaluate the Efficacy and Safety of MND-2119 Compared to EPADEL CAPSULES 300 in Patients With Hypertriglyceridemia Completed NCT03693131 Phase 3 Icosapent (MND-2119);Icosapent (EPADEL CAPSULES 300)

Search NIH Clinical Center for Hypertriglyceridemia, Familial

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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, Thyroid, Lung, Brain

Publications for Hypertriglyceridemia, Familial

Articles related to Hypertriglyceridemia, Familial:

(show top 50) (show all 11324)
# Title Authors PMID Year
1
A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia. 61 54 6 57
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 57
24387992 2014
3
Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia. 61 57
24268658 2013
4
Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia. 61 6
23307945 2013
5
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. 57 61
20657596 2010
6
Cardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective study. 57 61
10859281 2000
7
A major susceptibility locus influencing plasma triglyceride concentrations is located on chromosome 15q in Mexican Americans. 57 61
10729112 2000
8
Pancreatitis, familial hypertriglyceridemia, and pregnancy. 57 61
7355961 1980
9
Hypertriglyceridemia associated with deficiency of apolipoprotein C-II. 57 61
565877 1978
10
Segregation and linkage analyses of a large pedigree with hypertriglyceridemia. 61 57
610428 1977
11
Evidence for diabetes mellitus and genetic forms of hypertriglyceridemia as independent entities. 61 57
1165727 1975
12
Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. 57 61
4718953 1973
13
CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation. 6
31358993 2019
14
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. 57
25487149 2015
15
Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides. 6
12417525 2002
16
Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels. 6
12417524 2002
17
An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing. 6
11588264 2001
18
Linkage of human apolipoproteins A-I and C-III genes. 57
6308458 1983
19
DNA polymorphism adjacent to human apoprotein A-1 gene: relation to hypertriglyceridaemia. 57
6131168 1983
20
The effect of PPAR-alpha agonism on apolipoprotein metabolism in humans. 54 61
20005515 2010
21
Relationships between serum lipid, lipoprotein, triglyceride-rich lipoprotein, and high-density lipoprotein particle concentrations in post-renal transplant patients. 61 54
20349521 2010
22
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
23
Apolipoprotein C-III and the metabolic basis for hypertriglyceridemia and the dense low-density lipoprotein phenotype. 61 54
20368524 2010
24
Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease. 61 54
20335584 2010
25
[Prevalence of liver disease markers among patients with metabolic risk factors]. 61 54
20394204 2010
26
[Paraoxonase 1 (PON1) activity and lipid parameters in Tunisian smokers]. 61 54
20348046 2010
27
The common biological basis for common complex diseases: evidence from lipoprotein lipase gene. 54 61
19639021 2010
28
Lipid modification in type 2 diabetes: the role of LDL and HDL. 61 54
19650852 2009
29
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
30
Causes of dysregulation of lipid metabolism in chronic renal failure. 54 61
20017835 2009
31
Association between sequence variant of c.553 G > T in the apolipoprotein A5 gene and metabolic syndrome, insulin resistance, and carotid atherosclerosis. 54 61
19665689 2009
32
Metabolic consequences of peritoneal dialysis treatment. 54 61
19859052 2009
33
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
34
Glycated albumin and direct low density lipoprotein cholesterol levels in type 2 diabetes mellitus. 54 61
19465013 2009
35
TRIB3 functional Q84R polymorphism is a risk factor for metabolic syndrome and carotid atherosclerosis. 54 61
19389818 2009
36
Plasma phospholipid transfer protein (PLTP): review of an emerging cardiometabolic risk factor. 54 61
19413703 2009
37
Apolipoprotein B100 acts as a molecular link between lipid-induced endoplasmic reticulum stress and hepatic insulin resistance. 61 54
19434737 2009
38
[Gene-nutrient interaction and its association with obesity and diabetes mellitus]. 54 61
19768241 2009
39
Lipoprotein lipase mutation S447X associated with pancreatic calcification and steatorrhea in hyperlipidemic pancreatitis. 54 61
19034041 2009
40
Inflammatory NF-kappaB activation promotes hepatic apolipoprotein B100 secretion: evidence for a link between hepatic inflammation and lipoprotein production. 61 54
19342510 2009
41
Metabolic syndrome-From human organ disease to laminar failure in equids. 61 54
19110319 2009
42
The link between human and transgenic animal studies involving postprandial hypertriglyceridemia and CETP gene polymorphisms. 54 61
19557147 2009
43
Plasma apolipoprotein AV levels in mice are positively associated with plasma triglyceride levels. 54 61
19141870 2009
44
Refining lipoprotein assessment in diabetes: apolipoprotein B makes sense. 61 54
19454383 2009
45
Mutation screening of apical sodium-dependent bile acid transporter (SLC10A2): novel haplotype block including six newly identified variants linked to reduced expression. 61 54
19184108 2009
46
Capillary isotachophoresis study of lipoprotein network sensitive to apolipoprotein E phenotype. 1. ApoE distribution between lipoproteins. 61 54
19139973 2009
47
Bexarotene induces dyslipidemia by increased very low-density lipoprotein production and cholesteryl ester transfer protein-mediated reduction of high-density lipoprotein. 61 54
19147676 2009
48
Liver-specific loss of lipolysis-stimulated lipoprotein receptor triggers systemic hyperlipidemia in mice. 54 61
19188430 2009
49
The apolipoprotein A5 -1131T>C promoter polymorphism in Koreans: association with plasma APOA5 and serum triglyceride concentrations, LDL particle size and coronary artery disease. 54 61
19159622 2009
50
Characterization of hypertriglyceridemia and response to treatment with insulin in horses, ponies, and donkeys: 44 cases (1995-2005). 61 54
19335242 2009

Variations for Hypertriglyceridemia, Familial

ClinVar genetic disease variations for Hypertriglyceridemia, Familial:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CREB3L3 NM_032607.3(CREB3L3):c.732dup (p.Lys245fs) Duplication Pathogenic 979022 rs780374391 GRCh37: 19:4168364-4168365
GRCh38: 19:4168367-4168368
2 CELA2A NM_033440.3(CELA2A):c.361G>A (p.Asp121Asn) SNV Pathogenic 633592 rs1352544800 GRCh37: 1:15789885-15789885
GRCh38: 1:15463390-15463390
3 CELA2A NM_033440.3(CELA2A):c.253C>A (p.Leu85Met) SNV Pathogenic 633593 rs558493952 GRCh37: 1:15789253-15789253
GRCh38: 1:15462758-15462758
4 CELA2A NM_033440.3(CELA2A):c.639+1G>C SNV Pathogenic 633594 rs752331004 GRCh37: 1:15792640-15792640
GRCh38: 1:15466145-15466145
5 CELA2A NM_033440.3(CELA2A):c.209C>T (p.Thr70Met) SNV Pathogenic 633595 rs372947070 GRCh37: 1:15788135-15788135
GRCh38: 1:15461640-15461640
6 APOA5 NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter) SNV Pathogenic 381733 rs201079485 GRCh37: 11:116661656-116661656
GRCh38: 11:116790940-116790940
7 APOA5 NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter) SNV Pathogenic 381733 rs201079485 GRCh37: 11:116661656-116661656
GRCh38: 11:116790940-116790940
8 CREB3L3 NM_032607.3(CREB3L3):c.718G>A (p.Glu240Lys) SNV Likely pathogenic 917849 GRCh37: 19:4168351-4168351
GRCh38: 19:4168354-4168354
9 APOA5 NM_001371904.1(APOA5):c.553G>T (p.Gly185Cys) SNV risk factor 4402 rs2075291 GRCh37: 11:116661392-116661392
GRCh38: 11:116790676-116790676
10 APOA5 , LOC108491825 NM_001371904.1(APOA5):c.56C>G (p.Ser19Trp) SNV risk factor 4403 rs3135506 GRCh37: 11:116662407-116662407
GRCh38: 11:116791691-116791691
11 APOA5 NM_001371904.1(APOA5):c.*158C>T SNV risk factor 127141 rs2266788 GRCh37: 11:116660686-116660686
GRCh38: 11:116789970-116789970
12 APOA5 NM_001371904.1(APOA5):c.553G>T (p.Gly185Cys) SNV Uncertain significance 4402 rs2075291 GRCh37: 11:116661392-116661392
GRCh38: 11:116790676-116790676
13 LIPI NM_001302998.2(LIPI):c.164G>A (p.Cys55Tyr) SNV Uncertain significance 1822 rs11909217 GRCh37: 21:15561623-15561623
GRCh38: 21:14189302-14189302
14 GCKR NM_001486.4(GCKR):c.307G>A (p.Val103Met) SNV Uncertain significance 225370 rs146175795 GRCh37: 2:27721143-27721143
GRCh38: 2:27498276-27498276
15 LPL NM_000237.3(LPL):c.784C>T (p.Gln262Ter) SNV Uncertain significance 523886 rs1297688787 GRCh37: 8:19813360-19813360
GRCh38: 8:19955849-19955849
16 RP1 NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr) SNV Benign 5969 rs2293869 GRCh37: 8:55539395-55539395
GRCh38: 8:54626835-54626835

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

72
# 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
13.9 SLC10A2 LPL LIPI LIPC INS CREB3L3
2
Show member pathways
12.52 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
11.94 LPL LIPI LIPC CREB3L3 CETP APOE
6 11.81 SERPINE1 LPL INS
7 11.77 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 11.04 APOC3 APOA5 APOA2 APOA1
12 10.9 APOB APOA1
13 10.76 APOA2 APOA1

GO Terms for Hypertriglyceridemia, Familial

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.22 SERPINE1 LPL LIPI LIPC INS CETP
2 extracellular region GO:0005576 10.21 SERPINE1 LPL LIPI LIPC INS CETP
3 endoplasmic reticulum lumen GO:0005788 10.02 LIPC INS APOE APOB APOA5 APOA2
4 early endosome GO:0005769 10 APOE APOC3 APOC2 APOB APOA5 APOA2
5 collagen-containing extracellular matrix GO:0062023 9.84 SERPINE1 APOE APOC3 APOA1
6 chylomicron GO:0042627 9.76 LPL APOE APOC3 APOC2 APOB APOA5
7 spherical high-density lipoprotein particle GO:0034366 9.73 APOC3 APOC2 APOA2 APOA1
8 blood microparticle GO:0072562 9.72 APOE APOA2 APOA1
9 low-density lipoprotein particle GO:0034362 9.72 APOE APOC2 APOB APOA5 APOA1
10 endocytic vesicle lumen GO:0071682 9.67 APOE APOB APOA1
11 intermediate-density lipoprotein particle GO:0034363 9.65 APOE APOC3 APOC2 APOB APOA1
12 high-density lipoprotein particle GO:0034364 9.56 LIPC CETP APOE APOC2 APOB APOA5
13 endosome lumen GO:0031904 9.52 INS APOB
14 discoidal high-density lipoprotein particle GO:0034365 9.51 APOE APOA1
15 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 68)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.24 LPL LIPI LIPC CETP APOE APOC3
2 lipid transport GO:0006869 10.13 CETP APOE APOC3 APOC2 APOB APOA5
3 cellular protein metabolic process GO:0044267 10.11 INS APOE APOB APOA5 APOA2 APOA1
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 10.07 LIPC CETP APOE APOB APOA2 APOA1
7 retinoid metabolic process GO:0001523 10.05 LPL APOE APOC3 APOC2 APOB APOA2
8 triglyceride metabolic process GO:0006641 10.02 LPL CETP APOE APOC3 APOA5 APOA2
9 triglyceride catabolic process GO:0019433 10.01 LPL LIPI LIPC APOC3 APOB APOA5
10 intermembrane lipid transfer GO:0120009 10 CETP APOE APOB APOA2 APOA1
11 steroid metabolic process GO:0008202 9.98 CETP APOE APOB APOA1
12 cholesterol transport GO:0030301 9.97 LIPC CETP APOB APOA2 APOA1
13 low-density lipoprotein particle remodeling GO:0034374 9.96 LIPC CETP APOE APOB APOA2
14 lipoprotein metabolic process GO:0042157 9.95 APOE APOC3 APOB APOA5 APOA2 APOA1
15 reverse cholesterol transport GO:0043691 9.95 LIPC CETP APOE APOC3 APOC2 APOA2
16 chylomicron assembly GO:0034378 9.93 APOE APOC3 APOC2 APOB APOA2 APOA1
17 positive regulation of lipid biosynthetic process GO:0046889 9.92 INS APOE APOA5 APOA1
18 high-density lipoprotein particle assembly GO:0034380 9.92 APOE APOA5 APOA2 APOA1
19 phospholipid efflux GO:0033700 9.91 APOE APOC3 APOC2 APOA5 APOA2 APOA1
20 high-density lipoprotein particle remodeling GO:0034375 9.91 LIPC CETP APOE APOC3 APOC2 APOA2
21 regulation of lipid metabolic process GO:0019216 9.9 APOA5 APOA2 APOA1
22 high-density lipoprotein particle clearance GO:0034384 9.9 APOE APOC2 APOA2 APOA1
23 fatty acid biosynthetic process GO:0006633 9.89 LPL LIPI LIPC
24 chylomicron remnant clearance GO:0034382 9.89 LIPC APOE APOC3 APOC2 APOB
25 positive regulation of cholesterol esterification GO:0010873 9.88 APOE APOA5 APOA2 APOA1
26 very-low-density lipoprotein particle remodeling GO:0034372 9.87 LPL LIPC CETP APOE APOC2 APOA5
27 phosphatidylcholine metabolic process GO:0046470 9.84 CETP APOA5 APOA1
28 negative regulation of lipid catabolic process GO:0050995 9.84 INS APOC3 APOA2
29 positive regulation of fatty acid biosynthetic process GO:0045723 9.83 APOC2 APOA5 APOA1
30 positive regulation of lipoprotein lipase activity GO:0051006 9.83 APOC2 APOA5 APOA1
31 positive regulation of triglyceride catabolic process GO:0010898 9.83 APOC2 APOA5 APOA1
32 regulation of Cdc42 protein signal transduction GO:0032489 9.82 APOE APOC3 APOA1
33 lipoprotein biosynthetic process GO:0042158 9.82 APOE APOB APOA1
34 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.81 APOC3 APOA2 APOA1
35 triglyceride-rich lipoprotein particle remodeling GO:0034370 9.8 APOC2 APOA5 APOA2
36 chylomicron remodeling GO:0034371 9.8 LPL APOE APOC3 APOC2 APOB APOA2
37 artery morphogenesis GO:0048844 9.74 APOE APOB
38 positive regulation of nitric-oxide synthase activity GO:0051000 9.74 INS APOE
39 negative regulation of protein secretion GO:0050709 9.74 INS APOE
40 positive regulation of receptor-mediated endocytosis GO:0048260 9.74 SERPINE1 APOA5
41 positive regulation of cholesterol efflux GO:0010875 9.73 APOE APOA1
42 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 LPL APOB
43 fatty acid homeostasis GO:0055089 9.73 INS APOE
44 phospholipid homeostasis GO:0055091 9.73 CETP APOA1
45 positive regulation of lipid storage GO:0010884 9.73 LPL APOB
46 negative regulation of blood coagulation GO:0030195 9.73 SERPINE1 APOE
47 very-low-density lipoprotein particle assembly GO:0034379 9.72 APOC3 APOB
48 regulation of lipoprotein lipase activity GO:0051004 9.72 LPL LIPC
49 positive regulation of lipid catabolic process GO:0050996 9.72 APOA5 APOA2
50 positive regulation of cholesterol storage GO:0010886 9.71 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 10 SERPINE1 LPL APOE APOA2 APOA1
2 lipid binding GO:0008289 9.95 CETP APOE APOC3 APOC2 APOA5 APOA2
3 heparin binding GO:0008201 9.85 LPL LIPI LIPC APOE APOB APOA5
4 phosphatidylcholine binding GO:0031210 9.8 CETP APOA5 APOA2 APOA1
5 carboxylic ester hydrolase activity GO:0052689 9.77 LPL LIPI LIPC
6 lipid transporter activity GO:0005319 9.76 APOE APOB 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 triglyceride lipase activity GO:0004806 9.72 LPL LIPI LIPC
10 cholesterol binding GO:0015485 9.72 CETP APOC3 APOA5 APOA2 APOA1
11 low-density lipoprotein particle receptor binding GO:0050750 9.71 APOE APOB APOA5
12 lipase activity GO:0016298 9.7 LPL LIPI LIPC
13 lipoprotein particle binding GO:0071813 9.69 LPL APOE APOA1
14 lipoprotein lipase activity GO:0004465 9.65 LPL LIPI LIPC
15 high-density lipoprotein particle binding GO:0008035 9.64 APOA2 APOA1
16 heparan sulfate proteoglycan binding GO:0043395 9.63 LPL APOE
17 apolipoprotein binding GO:0034185 9.63 LPL LIPC
18 phospholipase A1 activity GO:0008970 9.62 LPL LIPC
19 phosphatidylserine 1-acylhydrolase activity GO:0052739 9.62 LPL LIPC
20 1-acyl-2-lysophosphatidylserine acylhydrolase activity GO:0052740 9.61 LPL LIPC
21 lipase binding GO:0035473 9.61 APOB APOA5
22 high-density lipoprotein particle receptor binding GO:0070653 9.61 APOC3 APOA2 APOA1
23 triglyceride binding GO:0017129 9.58 LPL CETP
24 lipoprotein lipase activator activity GO:0060230 9.58 APOC2 APOA5
25 apolipoprotein receptor binding GO:0034190 9.57 APOA2 APOA1
26 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.46 APOE APOA5 APOA2 APOA1
27 lipase inhibitor activity GO:0055102 9.26 APOC3 APOC2 APOA2 APOA1
28 intermembrane cholesterol transfer activity GO:0120020 9.02 CETP APOE APOB APOA2 APOA1

Sources for Hypertriglyceridemia, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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