Thrombophilia Due to Thrombin Defect (THPH1)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Thrombophilia Due to Thrombin Defect

MalaCards integrated aliases for Thrombophilia Due to Thrombin Defect:

Name: Thrombophilia Due to Thrombin Defect 57 12 72 29 13 6 15
Venous Thromboembolism 57 72 6 17 70
Thrombophilia Due to Factor 2 Defect 57 12 20 72
Venous Thrombosis 57 72 54 70
Thromboembolism 57 54 6 70
Venous Thromboembolism, Susceptibility to 57 29 6
Thph1 57 12 72
Venous Thrombosis, Protection Against 57 6
Venous Thrombosis, Susceptibility to 29 6
Thromboembolism, Susceptibility to 57 29
Prothrombin-Related Thrombophilia 12 20
Hyperprothrombinemia 20 70
Thrombophilia,due to Thrombin Defect 39
Prothrombin 20210g>a Thrombophilia 20
Prothrombin G20210a Thrombophilia 20
Factor Ii-Related Thrombophilia 20
Prothrombin Thrombophilia 20
F2-Related Thrombophilia 20



57 (Updated 20-May-2021)
autosomal dominant

onset in childhood


thrombophilia due to thrombin defect:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


External Ids:

Disease Ontology 12 DOID:0111907
OMIM® 57 188050
OMIM Phenotypic Series 57 PS188050
MeSH 44 D019851
UMLS 70 C0040038 C0042487 C1861172 more

Summaries for Thrombophilia Due to Thrombin Defect

GARD : 20 Prothrombin-related thrombophilia affects the way the blood clots. Individuals who have a thrombophilia have an increased risk to form abnormal blood clots in blood vessels. Symptoms of prothrombin-related thrombophilia include a higher than average risk to develop blood clots in the deep veins of the legs ( deep venous thrombosis ) and blood clots in the lungs ( pulmonary embolism ). Many people with prothrombin-related thrombophilia never develop abnormal blood clots. This condition is caused by a particular genetic variant (written G20210A or 20210G>A) in the F2 gene and is inherited in an autosomal dominant pattern. Prothrombin-related thrombophilia is diagnosed based on the symptoms, physical exam, blood tests, and imaging studies. The diagnosis may be confirmed by the results of genetic testing. Treatment is focused on preventing blood clots and may include blood thinning medication s.

MalaCards based summary : Thrombophilia Due to Thrombin Defect, also known as venous thromboembolism, is related to may-thurner syndrome and prothrombin thrombophilia. An important gene associated with Thrombophilia Due to Thrombin Defect is F2 (Coagulation Factor II, Thrombin), and among its related pathways/superpathways are Collagen chain trimerization and Response to elevated platelet cytosolic Ca2+. The drugs Atorvastatin and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and brain, and related phenotypes are pulmonary embolism and deep venous thrombosis

Disease Ontology : 12 A thrombophilia characterized by recurrent thrombophilia that has material basis in heterozygous mutation in F2 on chromosome 11p11.2.

OMIM® : 57 Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic, acquired, and circumstantial predisposing factors. Venous thromboembolism most commonly manifests as deep vein thrombosis, which may progress to pulmonary embolism if the clot dislodges and travels to the lung. Other manifestations include thromboses of the cerebral or visceral veins and recurrent pregnancy loss (summary by Seligsohn and Lubetsky, 2001 and Varga and Kujovich, 2012). (188050) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Thrombophilia due to thrombin defect: A multifactorial disorder of hemostasis characterized by abnormal platelet aggregation in response to various agents and recurrent thrombi formation.

Related Diseases for Thrombophilia Due to Thrombin Defect

Diseases in the Thrombophilia family:

Thrombophilia Due to Thrombin Defect Thrombophilia Due to Activated Protein C Resistance
Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator Thrombophilia Due to Thrombomodulin Defect
Thrombophilia Due to Decreased Release of Plat Rare Hereditary Thrombophilia

Diseases related to Thrombophilia Due to Thrombin Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1405)
# Related Disease Score Top Affiliating Genes
1 may-thurner syndrome 32.3 F5 APOH
2 prothrombin thrombophilia 32.1 MTHFR HABP2 F2 F13A1
3 post-thrombotic syndrome 31.4 SERPINE1 SERPINC1 PLAT F8 F5 F3
4 homocysteinemia 31.4 THBD SERPINE1 SERPINC1 MTHFR F5 F2
5 protein c deficiency 31.2 THBD SERPINE1 SERPINC1 PROC MTHFR F5
6 polycythemia 31.2 SERPINC1 F5 F2
7 papilledema 31.1 SERPINC1 F3 F2 APOH
8 thoracic outlet syndrome 31.1 SERPINC1 F2
9 intracranial hypotension 31.1 SERPINC1 F3 F2
10 venous insufficiency 31.1 SERPINE1 PLAT MTHFR F5 F2
11 protein s deficiency 31.0 THBD SERPINC1 PROC MTHFR FGA F5
12 chronic venous insufficiency 31.0 SERPINE1 PLAT MTHFR F2
13 cerebral sinovenous thrombosis 30.9 MTHFR F5 F3 F2 APOH
14 mastoiditis 30.9 SERPINC1 MTHFR F2
15 lateral sinus thrombosis 30.9 SERPINC1 MTHFR F2
16 hemoglobinuria 30.9 THBD SERPINC1 F2
17 varicose veins 30.9 THBD SERPINC1 PLAT MTHFR F5 F2
18 paroxysmal nocturnal hemoglobinuria 30.8 THBD SERPINC1 F2
19 intracranial hypertension 30.8 SERPINE1 SERPINC1 MTHFR F5 F3 F2
20 hemophilia a 30.8 F8 F5 F3
21 lemierre's syndrome 30.8 MTHFR F3 F2
22 cardiovascular system disease 30.8 THBD SERPINE1 SERPINC1 PLAT PF4 MTHFR
23 esophageal varix 30.7 SERPINC1 F3 F2
24 heparin-induced thrombocytopenia 30.7 SERPINC1 PF4 F3 F10
25 compartment syndrome 30.7 SERPINC1 F8 F3 F2
26 cavernous sinus thrombosis 30.7 SERPINC1 F3 F2
27 thrombophilia due to activated protein c resistance 30.6 THBD SERPINE1 SERPINC1 MTHFR F8 F5
28 sudden sensorineural hearing loss 30.5 MTHFR F5 F2
29 factor xii deficiency 30.5 SERPINC1 F5 F3 APOH
30 thrombocytosis 30.5 SERPINC1 PF4 FGA F3 F2
31 polycythemia vera 30.5 THBD PF4 F5 F2
32 homocystinuria 30.5 THBD SERPINC1 MTHFR F8 F5
33 splenic infarction 30.5 SERPINC1 F3 F2 APOH
34 limb ischemia 30.5 SERPINE1 PLAT F2
35 sagittal sinus thrombosis 30.5 THBD SERPINC1 F8 F5 F3 F2
36 eclampsia 30.5 THBD SERPINC1 MTHFR F2
37 pregnancy loss, recurrent 1 30.4 F5 APOH
38 active peptic ulcer disease 30.4 F3 F2
39 acquired hemophilia a 30.4 F8 F5 F3
40 sticky platelet syndrome 30.4 SERPINE1 SERPINC1 F5
41 portal vein thrombosis 30.4 SERPINE1 SERPINC1 PROC PLAT MTHFR F5
42 thrombotic microangiopathy 30.4 THBD F3
43 atherosclerosis susceptibility 30.3 THBD SERPINE1 MTHFR F3
44 inflammatory bowel disease 30.3 SERPINC1 PROCR MTHFR F5 F3 F2
45 thrombasthenia 30.3 MTHFR F5 F3 F2
46 severe pre-eclampsia 30.3 SERPINC1 F5 APOH
47 intracranial embolism 30.3 SERPINC1 PLAT F3 F2
48 respiratory failure 30.3 THBD PF4 FGA F3 F2
49 antithrombin iii deficiency 30.3 SERPINC1 PF4 MTHFR FGA F5 F2
50 mitral valve stenosis 30.3 SERPINC1 PF4 FGA F3 F2

Comorbidity relations with Thrombophilia Due to Thrombin Defect via Phenotypic Disease Network (PDN): (show all 13)

Active Peptic Ulcer Disease Acute Cystitis
Decubitus Ulcer Deficiency Anemia
Familial Atrial Fibrillation Femoral Vein Thrombophlebitis
Heart Disease Hypertension, Essential
Hypothyroidism Osteoporosis
Peripheral Vascular Disease Protein-Energy Malnutrition
Schizophreniform Disorder

Graphical network of the top 20 diseases related to Thrombophilia Due to Thrombin Defect:

Diseases related to Thrombophilia Due to Thrombin Defect

Symptoms & Phenotypes for Thrombophilia Due to Thrombin Defect

Human phenotypes related to Thrombophilia Due to Thrombin Defect:

# Description HPO Frequency HPO Source Accession
1 pulmonary embolism 31 HP:0002204
2 deep venous thrombosis 31 HP:0002625
3 thromboembolism 31 HP:0001907
4 cerebral venous thrombosis 31 HP:0005305
5 recurrent thrombophlebitis 31 HP:0004419

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory Lung:
pulmonary embolism

Neurologic Central Nervous System:
cerebral thrombosis

Cardiovascular Vascular:
deep vein thrombosis
thrombosis, recurrent

Clinical features from OMIM®:

188050 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Thrombophilia Due to Thrombin Defect:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 APOH F10 F13A1 F13B F2 F3
2 cardiovascular system MP:0005385 10.27 F10 F13A1 F2 F3 F5 FGA
3 hematopoietic system MP:0005397 10.17 F13A1 F3 F8 FGA PF4 PLAT
4 immune system MP:0005387 10.11 F2 F3 F8 FGA HABP2 PLAT
5 mortality/aging MP:0010768 10.09 APOH F10 F13A1 F2 F3 F5
6 integument MP:0010771 10.02 F13A1 F2 F3 F5 FGA MTHFR
7 liver/biliary system MP:0005370 9.86 F5 FGA HABP2 MTHFR PROC SERPINC1
8 reproductive system MP:0005389 9.61 F10 F13A1 F2 F8 FGA MTHFR
9 respiratory system MP:0005388 9.17 F13A1 F2 F3 PLAT PROC SERPINE1

Drugs & Therapeutics for Thrombophilia Due to Thrombin Defect

Drugs for Thrombophilia Due to Thrombin Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 349)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Atorvastatin Approved Phase 4 134523-00-5 60823
Polyestradiol phosphate Approved Phase 4 28014-46-2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
Norethindrone Approved Phase 4 68-22-4 6230
Tranylcypromine Approved, Investigational Phase 4 155-09-9 441233
Dydrogesterone Approved, Investigational, Withdrawn Phase 4 152-62-5 9051
fluindione Approved, Investigational Phase 4 957-56-2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
Acetaminophen Approved Phase 4 103-90-2 1983
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
Phenindione Approved, Investigational Phase 4 83-12-5 4760
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
Streptokinase Approved, Investigational Phase 4 9002-01-1
Dipyridamole Approved Phase 4 58-32-2 3108
Nadroparin Approved, Investigational Phase 4
Ketoconazole Approved, Investigational Phase 4 65277-42-1 47576
Dronedarone Approved Phase 4 141626-36-0, 141625-93-6 154087
Rabeprazole Approved, Investigational Phase 4 117976-89-3 5029
Verapamil Approved Phase 4 52-53-9 2520
Vitamin K1 Approved, Investigational Phase 4 84-80-0 5284607
Apixaban Approved Phase 4 503612-47-3 10182969
Phenprocoumon Approved, Investigational Phase 4 435-97-2 9908 54680692
Ranibizumab Approved Phase 4 347396-82-1 459903
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
Coumarin Experimental Phase 4 91-64-5 323
28 Menaquinone Investigational Phase 4 1182-68-9
29 Contraceptive Agents Phase 4
30 Estradiol 3-benzoate Phase 4
31 Estradiol 17 beta-cypionate Phase 4
32 Norethindrone Acetate Phase 4
33 Psychotropic Drugs Phase 4
34 Antidepressive Agents Phase 4
35 Monoamine Oxidase Inhibitors Phase 4
36 Anti-Anxiety Agents Phase 4
Terephthalic acid Phase 4 100-21-0 7489
38 Antifungal Agents Phase 4
39 Tin Fluorides Phase 4
40 Dermatologic Agents Phase 4
41 Vasoconstrictor Agents Phase 4
42 Antibodies, Antiphospholipid Phase 4
43 Clavulanic Acids Phase 4
44 Amoxicillin-Potassium Clavulanate Combination Phase 4
45 beta-Lactamase Inhibitors Phase 4
46 Antivitamins K Phase 4
47 Salicylates Phase 4
48 Keratolytic Agents Phase 4
49 Protamines Phase 4
50 Vasodilator Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 1355)
# Name Status NCT ID Phase Drugs
1 The Danish Non-vitamin K Antagonist Oral Anticoagulation Study. A Cluster Randomized Study Comparing Safety and Efficacy of Edoxaban, Apixaban, Rivaroxaban and Dabigatran for Oral Anticoagulation in Patients With Venous Thromboembolism. Unknown status NCT03129555 Phase 4 Dabigatran Etexilate Oral Capsule;Rivaroxaban Oral Tablet;Edoxaban Oral Tablet;Apixaban Oral Tablet
2 Comparison of Topical Tranexamic Acid and Floseal® on Blood Loss After Total Knee Arthroplasty in Patients With a Thromboembolic Risk Unknown status NCT02865174 Phase 4 Topical tranexamic acid;Floseal®;Enoxaparin
3 Weight Based Enoxaparin for Venous Thromboembolism Prophylaxis in Trauma Patients Unknown status NCT01916707 Phase 4 Dosing of enoxaparin for VTE prophylaxis
4 A Double-blind Randomized Trial to Compare the Efficacy of Intermittent Pneumatic Compression (IPC) With and Without Early Anticoagulant Treatment for Prevention of Venous Thromboembolism (VTE) in Patients With Acute Primary Intracerebral Hemorrhage (ICH) Unknown status NCT00699465 Phase 4 enoxaparin;enoxaparin placebo
5 Evaluation of Venous Thromboembolism Prevention in High-Risk Trauma Patients: A Prospective Randomized Trial of Standard Enoxaparin Versus Two Anti-Xa Adjusted Dosing Strategies Unknown status NCT02412982 Phase 4 Enoxaparin 40 mg q12h;Enoxaparin 30 mg q8h
6 A Randomized Study Aimed at Comparing Activated Partial Thromboplastin Time and Anti-Xa Activity and in Patients Requiring Unfractionated Heparin Infusion Unknown status NCT03426982 Phase 4 Unfractionated heparin;Unfractionated heparin
7 Two Weeks of Low Molecular Weight Heparin for Distal Vein Thrombosis (TWISTER) Unknown status NCT01252420 Phase 4 Enoxaparin
8 Comparison of Ultra-low-dose Oral Versus Trans-dermal Hormone Therapy on Coagulation Activation and Metabolic Risk Factors for Cardiovascular Disease Unknown status NCT02264743 Phase 4 Femoston Conti;EVOREL® CONTI
9 Outcome of Percutaneous Mechanical Thrombectomy to Treat Acute Deep Venous Thrombosis Unknown status NCT02959801 Phase 4
10 Dose Effect of Tranexamic Acid on the Incidence of Deep Venous Thrombus in Cardiac Surgery With Cardiopulmonary Bypass Unknown status NCT03838328 Phase 4 Tranexamic Acid
11 Effect of Anticoagulation After Endoscopic Therapy in Cirrhotic Patients With Portal Vein Thrombosis:A Zelen-design Multicenter Randomized Controlled Trial Unknown status NCT02630095 Phase 4 Nadroparin Calcium and Warfarin
12 Study of the OmniWave Endovascular System in Subjects With Lower and Upper Extremity Deep Vein Thrombosis - SONIC I Study Unknown status NCT00640731 Phase 4
13 Applying Pharmacogenetics to Warfarin Dosing in Chinese Patients Unknown status NCT01610141 Phase 4
14 Rosuvastatin for Prevention of Deep Vein Thrombosis in Patients Undergoing Total Knee Replacement Arthroplasty: STOP DVT - A Prospective Randomized Controlled Trial Unknown status NCT01021488 Phase 4 Rosuvastatin 20mg/d for 14days;enoxaparin only
15 Reload of High Dose Atorvastatin for Preventing Deep Vein Thrombosis in Statin Users Undergoing Total Knee Replacement Arthroplasty: RE-STOP-DVT Study- A Prospective Randomized Controlled Trial Unknown status NCT01063426 Phase 4 High dose Atorvastatin+enoxaparin;Enoxaparin
16 Efficacy and Safety of Warfarin Anticoagulation for Prevention of Portal Vein Thrombosis in Liver Cirrhotic Patients With Hypersplenism After Laparoscopic Splenectomy Unknown status NCT02238444 Phase 4 Warfarin;Dipyridamole;Aspirin;Low Molecular Weight Heparin
17 A Zelen-design Randomized Controlled Trial of the Effect of Anticoagulation After Endoscopic Therapy in Cirrhotic Patients With Portal Vein Thrombosis Unknown status NCT02398357 Phase 4 Nadroparin Calcium and Warfarin
18 Residual Vein Thrombosis Establishes the Optimal Duration of Low Molecular Weight Heparins in Cancer Patients With Deep Vein Thrombosis of the Lower Limbs Unknown status NCT00450645 Phase 4 low molecular weight heparin
19 MGuard vs bAre-metal Stents Plus Manual Thrombectomy in Real World STEMI Patients: a Prospective Multicenter Randomized Trial Unknown status NCT01124942 Phase 4
20 Thromboprophylaxis During Bariatric Surgery Unknown status NCT00444652 Phase 4 Enoxaparin
21 Comparison of Low-Molecular-Weight Heparin (LMWH) and Unfractionated Heparin (UFH) in Combination With Thrombolytic Treatment of Acute Massive Pulmonary Thromboembolism Unknown status NCT01956955 Phase 4 enoxaparin ,alteplase, unfractionated heparin
22 Low Dose Rt-PA Plus LMWH Compared With LMWH Alone for the Treatment of Normotensive Pulmonary Embolism Patients With Acute RV Dysfunction: A Randomized,Multi-Center,Controlled Trial Unknown status NCT01531829 Phase 4 Recombinant tissue plasminogen activator (rt-PA);Low Molecular Weight Heparin
23 Prospective, Pharmacokinetic Study for Determination of the Relationship Between Lean Body Weight and Anti-Xa Activity 4 Hours After Subcutaneous Injection of 5700 IU Nadroparin in Morbidly Obese Patients After Bariatric Surgery. Unknown status NCT02295150 Phase 4 Nadroparin
24 Venous Thromboembolism Prevention in the Morbidly Obese Medically Ill Patient: A Pharmacological Analysis of the Predictability of Prophylactic Weight-Based Enoxaparin Dosing. Completed NCT00585182 Phase 4 Enoxaparin 0.5 mg/kg once daily
25 A Randomized Trial of the Effect of Low-Molecular-Weight Heparin Versus Warfarin Sodium on the Mortality in the Long-Term Treatment of Proximal Deep Vein Thrombosis (Main LITE Study) Completed NCT00203580 Phase 4 Tinzaparin sodium
26 Efficacy and Safety of Warfarin Anticoagulation for Prevention of Portal Vein Thrombosis in Liver Cirrhotic Patients After Laparoscopic Splenectomy and Azygoportal Disconnection for Portal Hypertension Completed NCT02247414 Phase 4 Warfarin;Dipyridamole;Aspirin;Low Molecular Weight Heparin
27 PREPIC 2 : Interruption of Inferior Vena Cava by a Retrievable Filter for the Prevention of Recurrent Pulmonary Embolism : a Randomised, Open Label Study Completed NCT00457158 Phase 4
28 Safety of Fondaparinux as Postpartum Venous Thromboembolism Prophylaxis Completed NCT04447378 Phase 4 Fondaparinux 2.5Mg/0.5Ml Inj Syr
29 Cystic Fibrosis and Totally Implantable Vascular Access Devices: Evaluation of the Incidence of Venous Thrombosis Related to the Catheter and Study of the Genetic and Acquired Risk Factors Completed NCT00244270 Phase 4
30 Apixaban for Primary Prevention of Venous Thromboembolism in Patients With Multiple Myeloma Receiving Immunomodulatory Therapy Completed NCT02958969 Phase 4 Apixaban
31 Venous Thromboembolic Prophylaxis After Major Trauma: A Randomized Controlled Trial of Three Times a Day Unfractionated Heparin Versus Twice a Day Enoxaparin Completed NCT01729559 Phase 4 5000 Units unfractionated Heparin Q 8 hr;30mg enoxaparin Q12 hr
32 Phase IV, Randomized, Open-Label Trial Comparing Long-Term Subcutaneous Low-Molecular Weight Heparin With Oral Anticoagulant Therapy in the Treatment of Deep Venous Thrombosis Completed NCT00689520 Phase 4 tinzaparin;acenocoumarol
33 D-dimer Test to Establish Duration of Anticoagulation After a First Idiopathic Episode of Venous Thromboembolism; the Prospective Randomized "Prolong" Study Completed NCT00264277 Phase 4 Vitamin K antagonist (Coumarin anticoagulants)
34 The Efficacy of Subcutaneous Enoxaparin Once Daily in the Treatment of Acute Venous Thromboembolic Disease: an Open-labelled, Non-comparative, Multicentric, Phase IV Trial Completed NCT00265993 Phase 4 enoxaparin
35 Clinically-Important Venous Thromboembolism Following Lower Extremity Fractures: Epidemiology & Prevention Completed NCT00187408 Phase 4 Low Molecular Weight Heparin (dalteparin)
36 APB Study: Apixaban Pharmacokinetics in Bariatric Patients Completed NCT02406885 Phase 4 Apixaban
37 EUropean Pharmacogenetics of AntiCoagulant Therapy - Warfarin Completed NCT01119300 Phase 4
38 EUropean Pharmacogenetics of AntiCoagulant Therapy - Phenprocoumon Completed NCT01119274 Phase 4
39 Use of Fondaparinux in Critically Ill Patients With Renal Failure Completed NCT01467583 Phase 4 Fondaparinux
40 REVERSEII: Validation of the "Men and HERDOO2"- A Clinical Decision Rule to Identify Patients With "Unprovoked" Venous Thromboembolism Who Can Discontinue Anticoagulants After 6 Months of Treatment. Completed NCT00967304 Phase 4
41 Comparison of Bleeding Risk Between Rivaroxaban and Apixaban for the Treatment of Acute Venous Thromboembolism: The Pilot Study Completed NCT02559856 Phase 4 Apixaban;Rivaroxaban
42 EUropean Pharmacogenetics of AntiCoagulant Therapy - Acenocoumarol Completed NCT01119261 Phase 4
43 Weight-Adjusted Dosing of Tinzaparin in Pregnancy Completed NCT00851864 Phase 4 Tinzaparin
44 Spreading and Improving DVT Prophylaxis at Mayo Clinic (DVT-P-Spread) Completed NCT01304108 Phase 4
45 Reversion of the Anticoagulant Effect of the New Antithrombotic Agents Anti-Xa and Anti IIa by Specific and Non-specific Haemostatic Drugs,: an Ex-Vivo Study in Healthy Volunteers Completed NCT01210755 Phase 4 Rivaroxaban, Dabigatran;Dabigatran; Rivaroxaban
46 Plasma Anti-FXa Concentration After Continuous Intravenous Infusion and Subcutaneous Dosing of Enoxaparin for Thromboprophylaxis in Critically Ill Patients Completed NCT02095509 Phase 4 Enoxaparin
47 A Double-Blind, Placebo-Controlled, Parallel, Multicenter Study on Extended VTE Prophylaxis in Acutely Ill Medical Patients With Prolonged Immobilization Completed NCT00077753 Phase 4 enoxaparin sodium
48 Evaluation of Non-Surgical Venous Thromboembolism Prophylaxis Dosing Strategies: Enoxaparin 20mg Versus 30mg Subcutaneously Once Daily in Elderly Patients With Impaired Renal Function Completed NCT03158792 Phase 4 Enoxaparin 20Mg/0.2mL Prefilled Syringe;Enoxaparin 60Mg/0.6Ml Inj Syringe 0.6Ml
49 Randomized Clinical Trial of Dalteparin for Primary Venous Thromboembolism (VTE) Prophylaxis in Pancreatic Cancer Patients Undergoing Chemotherapy Treatment. Completed NCT00966277 Phase 4 Dalteparin
50 Prospective, Multicenter Study Investigating Efficacy and Safety of Oral Rivaroxaban for the Prevention of Recurrent Venous Thromboembolism in Korean Patients With Cancers Completed NCT01989845 Phase 4 Rivaroxaban

Search NIH Clinical Center for Thrombophilia Due to Thrombin Defect

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

ardeparin sodium
Dalteparin Sodium
Danaparoid sodium
heparin calcium
heparin sodium
heparin sodium, bovine
heparin sodium, porcine
Papaverine Hydrochloride
Tinzaparin sodium
Warfarin Sodium

Genetic Tests for Thrombophilia Due to Thrombin Defect

Genetic tests related to Thrombophilia Due to Thrombin Defect:

# Genetic test Affiliating Genes
1 Thrombophilia Due to Thrombin Defect 29 F13A1 F2 HABP2 MTHFR
2 Venous Thrombosis, Susceptibility to 29
3 Venous Thromboembolism, Susceptibility to 29
4 Thromboembolism, Susceptibility to 29

Anatomical Context for Thrombophilia Due to Thrombin Defect

MalaCards organs/tissues related to Thrombophilia Due to Thrombin Defect:

Lung, Heart, Brain, Liver, Breast, Kidney, Endothelial

Publications for Thrombophilia Due to Thrombin Defect

Articles related to Thrombophilia Due to Thrombin Defect:

(show top 50) (show all 22460)
# Title Authors PMID Year
The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. 57 6 54
10477778 1999
A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. 6 57 54
8916933 1996
Thrombosis from a prothrombin mutation conveying antithrombin resistance. 6 57
22716977 2012
Clinical and analytical relevance of the combination of prothrombin 20210A/A and factor V Leiden: results from a large family. 6 57
10233438 1999
Frequent factor II G20210A mutation in idiopathic portal vein thrombosis. 57 6
9869612 1999
Marburg I polymorphism of factor VII-activating protease is associated with idiopathic venous thromboembolism. 61 54 6
15486068 2005
Management of inherited thrombophilia: guide for genetics professionals. 61 57
21707594 2012
The genetics of venous thromboembolism. A meta-analysis involving approximately 120,000 cases and 180,000 controls. 61 6
19652888 2009
Predictive value of factor V Leiden and prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic review. 6 61
19531787 2009
Functional polymorphisms of FGA, encoding alpha fibrinogen, are associated with susceptibility to venous thromboembolism in a Taiwanese population. 61 6
16362348 2006
alpha-fibrinogen Thr312Ala polymorphism and venous thromboembolism. 6 61
10910940 2000
Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism. 6 61
10406905 1999
A comparison of three months of anticoagulation with extended anticoagulation for a first episode of idiopathic venous thromboembolism. 57 61
10089183 1999
A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene. 61 6
9694698 1998
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 6
31064749 2019
Prevalence and Geographical Variation of Prothrombin G20210A Mutation in Patients with Cerebral Vein Thrombosis: A Systematic Review and Meta-Analysis. 6
27031503 2016
HABP2 Mutation and Nonmedullary Thyroid Cancer. 6
26581002 2015
HABP2 Mutation and Nonmedullary Thyroid Cancer. 6
26581003 2015
HABP2 Mutation and Nonmedullary Thyroid Cancer. 6
26581004 2015
HABP2 Mutation and Nonmedullary Thyroid Cancer. 6
26581001 2015
HABP2 Mutation and Nonmedullary Thyroid Cancer. 6
26581005 2015
Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer. 6
26222560 2015
A mutation in the HFE gene is associated with altered brain iron profiles and increased oxidative stress in mice. 6
23429074 2013
Effect of HFE variants on sphingolipid expression by SH-SY5Y human neuroblastoma cells. 6
21243428 2011
HFE polymorphisms affect cellular glutamate regulation. 6
19560233 2011
Mutant HFE H63D protein is associated with prolonged endoplasmic reticulum stress and increased neuronal vulnerability. 6
21349849 2011
A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1. 57
20226436 2010
Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants. 6
19159930 2009
HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity. 6
19554541 2009
Factor XIII Val34Leu variant and the risk of myocardial infarction: a meta-analysis. 6
17393027 2007
Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites approximately 24,000 years ago. 6
16493002 2006
A novel polymorphism in the factor XIII B-subunit (His95Arg): relationship to subunit dissociation and venous thrombosis. 6
16241947 2005
Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. 6
15534175 2004
The prothrombin 3'end formation signal reveals a unique architecture that is sensitive to thrombophilic gain-of-function mutations. 6
15059842 2004
Genetic variants of coagulation factor XIII, postmenopausal estrogen therapy, and risk of nonfatal myocardial infarction. 6
12456499 2003
Marburg I polymorphism of factor VII--activating protease: a prominent risk predictor of carotid stenosis. 6
12578864 2003
The frequent Marburg I polymorphism impairs the pro-urokinase activating potency of the factor VII activating protease (FSAP). 6
12138371 2002
The effect of the Val34Leu polymorphism in the factor XIII gene in infants with a birth weight below 1500 g. 6
12072871 2002
Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium? 6
11904676 2002
A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. 6
11874997 2002
Unilateral chronic thromboembolic pulmonary disease associated with combined inherited thrombophilia. 6
11796466 2002
[A family with multiple thrombosis including infancy occurrence]. 57
11570053 2001
Thrombophilic gene mutations and recurrent spontaneous abortion: prothrombin mutation increases the risk in the first trimester. 6
11506076 2001
Increased efficiency of mRNA 3' end formation: a new genetic mechanism contributing to hereditary thrombophilia. 6
11443298 2001
Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause? 6
11358905 2001
Genetic susceptibility to venous thrombosis. 57
11309638 2001
The factor XIII V34L polymorphism accelerates thrombin activation of factor XIII and affects cross-linked fibrin structure. 6
10910914 2000
Budd-Chiari syndrome in a patient heterozygous for both factor V Leiden and the G20210A mutation on the prothrombin gene. 6
10544935 1999
Factor XIII Val34Leu is a genetic factor involved in the etiology of venous thrombosis. 6
10365735 1999
The 20210A allele of the prothrombin gene is an independent risk factor for perception deafness in patients with venous thromboembolic antecedents. 6
10336270 1999

Variations for Thrombophilia Due to Thrombin Defect

ClinVar genetic disease variations for Thrombophilia Due to Thrombin Defect:

6 (show top 50) (show all 263)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F13A1 NM_000129.3(F13A1):c.103G>T (p.Val35Leu) SNV protective 16532 rs5985 GRCh37: 6:6318795-6318795
GRCh38: 6:6318562-6318562
2 F2 NM_000506.5(F2):c.*97G>A SNV Pathogenic 13310 rs1799963 GRCh37: 11:46761055-46761055
GRCh38: 11:46739505-46739505
3 F2 NM_000506.5(F2):c.1787G>A (p.Arg596Gln) SNV Pathogenic 692073 rs387907201 GRCh37: 11:46760876-46760876
GRCh38: 11:46739326-46739326
4 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775) copy number gain Pathogenic 523241 GRCh37: 1:12019879-12028775
5 F2 NM_000506.5(F2):c.*97G>A SNV risk factor 13310 rs1799963 GRCh37: 11:46761055-46761055
GRCh38: 11:46739505-46739505
6 PROC NM_000312.3(PROC):c.814C>T (p.Arg272Cys) SNV Likely pathogenic 671 rs121918154 GRCh37: 2:128185950-128185950
GRCh38: 2:127428374-127428374
7 PROC NM_000312.3(PROC):c.125G>A (p.Arg42His) SNV Likely pathogenic 161333 rs369504169 GRCh37: 2:128178913-128178913
GRCh38: 2:127421337-127421337
8 PROC NM_000312.3(PROC):c.352T>C (p.Phe118Leu) SNV Likely pathogenic 469122 rs1553424043 GRCh37: 2:128180699-128180699
GRCh38: 2:127423123-127423123
9 HABP2 NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu) SNV risk factor 5974 rs7080536 GRCh37: 10:115348046-115348046
GRCh38: 10:113588287-113588287
10 PROC NM_000312.3(PROC):c.238-2A>G SNV Likely pathogenic 627040 rs1573442055 GRCh37: 2:128180491-128180491
GRCh38: 2:127422915-127422915
11 FGA NM_021871.4(FGA):c.991A>G (p.Thr331Ala) SNV risk factor 16420 rs6050 GRCh37: 4:155507590-155507590
GRCh38: 4:154586438-154586438
12 F13B NM_001994.2(F13B):c.344G>A (p.Arg115His) SNV risk factor 16520 rs6003 GRCh37: 1:197031021-197031021
GRCh38: 1:197061891-197061891
13 F2 NM_000506.4(F2):c.1787G>T (p.Arg596Leu) SNV Conflicting interpretations of pathogenicity 31922 rs387907201 GRCh37: 11:46760876-46760876
GRCh38: 11:46739326-46739326
14 F5 NM_000130.5(F5):c.2241_2243AGA[2] (p.Glu750del) Microsatellite Uncertain significance 293620 rs575766548 GRCh37: 1:169512079-169512081
GRCh38: 1:169542841-169542843
15 MTHFR NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) SNV Uncertain significance 3520 rs1801133 GRCh37: 1:11856378-11856378
GRCh38: 1:11796321-11796321
16 SERPINC1 NM_000488.3(SERPINC1):c.89T>A (p.Val30Glu) SNV Uncertain significance 18012 rs2227624 GRCh37: 1:173884010-173884010
GRCh38: 1:173914872-173914872
17 F5 NM_000130.5(F5):c.*1237G>A SNV Uncertain significance 876255 GRCh37: 1:169482314-169482314
GRCh38: 1:169513076-169513076
18 F5 NM_000130.5(F5):c.*872C>T SNV Uncertain significance 874467 GRCh37: 1:169482679-169482679
GRCh38: 1:169513441-169513441
19 F5 NM_000130.5(F5):c.*288T>C SNV Uncertain significance 876512 GRCh37: 1:169483263-169483263
GRCh38: 1:169514025-169514025
20 F5 NM_000130.5(F5):c.1158A>G (p.Gln386=) SNV Uncertain significance 876513 GRCh37: 1:169521933-169521933
GRCh38: 1:169552695-169552695
21 F5 NM_000130.4(F5):c.1128G>T (p.Arg376Ser) SNV Uncertain significance 627209 rs373172802 GRCh37: 1:169521963-169521963
GRCh38: 1:169552725-169552725
22 F5 NM_000130.5(F5):c.586+11C>A SNV Uncertain significance 876600 GRCh37: 1:169529781-169529781
GRCh38: 1:169560543-169560543
23 F5 NM_000130.5(F5):c.5729C>T (p.Pro1910Leu) SNV Uncertain significance 876651 GRCh37: 1:169494134-169494134
GRCh38: 1:169524896-169524896
24 F5 NM_000130.5(F5):c.5446C>T (p.Pro1816Ser) SNV Uncertain significance 876694 GRCh37: 1:169497306-169497306
GRCh38: 1:169528068-169528068
25 F5 NM_000130.5(F5):c.4347G>A (p.Pro1449=) SNV Uncertain significance 876842 GRCh37: 1:169509981-169509981
GRCh38: 1:169540743-169540743
26 F2 NM_000506.5(F2):c.814G>A (p.Val272Met) SNV Uncertain significance 877749 GRCh37: 11:46747663-46747663
GRCh38: 11:46726113-46726113
27 F2 NM_000506.5(F2):c.843C>T (p.Gly281=) SNV Uncertain significance 708725 rs147699032 GRCh37: 11:46747692-46747692
GRCh38: 11:46726142-46726142
28 F2 NM_000506.5(F2):c.874+13G>A SNV Uncertain significance 877750 GRCh37: 11:46747736-46747736
GRCh38: 11:46726186-46726186
29 F2 NM_000506.4(F2):c.1824C>T (p.Arg608=) SNV Uncertain significance 256314 rs3136532 GRCh37: 11:46760913-46760913
GRCh38: 11:46739363-46739363
30 F2 NM_000506.5(F2):c.*9T>G SNV Uncertain significance 877790 GRCh37: 11:46760967-46760967
GRCh38: 11:46739417-46739417
31 F2 NM_000506.5(F2):c.191C>T (p.Thr64Met) SNV Uncertain significance 878742 GRCh37: 11:46741363-46741363
GRCh38: 11:46719813-46719813
32 F2 NM_000506.5(F2):c.234G>A (p.Thr78=) SNV Uncertain significance 878743 GRCh37: 11:46741406-46741406
GRCh38: 11:46719856-46719856
33 F2 NM_000506.5(F2):c.285G>A (p.Thr95=) SNV Uncertain significance 878744 GRCh37: 11:46742359-46742359
GRCh38: 11:46720809-46720809
34 F2 NM_000506.5(F2):c.1037C>T (p.Ser346Leu) SNV Uncertain significance 878783 GRCh37: 11:46748294-46748294
GRCh38: 11:46726744-46726744
35 F2 NC_000011.10:g.46739508C>A SNV Uncertain significance 878831 GRCh37: 11:46761058-46761058
GRCh38: 11:46739508-46739508
36 F2 NM_000506.5(F2):c.495G>A (p.Thr165=) SNV Uncertain significance 756801 rs144857547 GRCh37: 11:46745004-46745004
GRCh38: 11:46723454-46723454
37 F2 NM_000506.5(F2):c.1298+11G>C SNV Uncertain significance 879371 GRCh37: 11:46749724-46749724
GRCh38: 11:46728174-46728174
38 PROC NM_000312.3(PROC):c.386G>A (p.Arg129His) SNV Uncertain significance 627207 rs746190838 GRCh37: 2:128180733-128180733
GRCh38: 2:127423157-127423157
39 F5 NM_000130.4(F5):c.1128G>T (p.Arg376Ser) SNV Uncertain significance 627209 rs373172802 GRCh37: 1:169521963-169521963
GRCh38: 1:169552725-169552725
40 F5 NM_000130.4(F5):c.911G>A (p.Gly304Glu) SNV Uncertain significance 627404 rs865947251 GRCh37: 1:169525925-169525925
GRCh38: 1:169556687-169556687
41 F5 NM_000130.4(F5):c.*363T>G SNV Uncertain significance 293566 rs115882472 GRCh37: 1:169483188-169483188
GRCh38: 1:169513950-169513950
42 F5 NM_000130.4(F5):c.5788+4A>T SNV Uncertain significance 293577 rs759428783 GRCh37: 1:169494071-169494071
GRCh38: 1:169524833-169524833
43 F5 NM_000130.4(F5):c.538G>A (p.Glu180Lys) SNV Uncertain significance 293638 rs143152035 GRCh37: 1:169529840-169529840
GRCh38: 1:169560602-169560602
44 F5 NM_000130.4(F5):c.3261C>G (p.Pro1087=) SNV Uncertain significance 293612 rs886045549 GRCh37: 1:169511067-169511067
GRCh38: 1:169541829-169541829
45 F2 NM_000506.4(F2):c.1472+9C>T SNV Uncertain significance 304817 rs886048336 GRCh37: 11:46750396-46750396
GRCh38: 11:46728846-46728846
46 F5 NM_000130.4(F5):c.1034G>A (p.Arg345Gln) SNV Uncertain significance 293632 rs201078171 GRCh37: 1:169524504-169524504
GRCh38: 1:169555266-169555266
47 F5 NM_000130.4(F5):c.1659G>A (p.Glu553=) SNV Uncertain significance 293625 rs370739570 GRCh37: 1:169515783-169515783
GRCh38: 1:169546545-169546545
48 F5 NM_000130.5(F5):c.374G>A (p.Gly125Asp) SNV Uncertain significance 873809 GRCh37: 1:169530004-169530004
GRCh38: 1:169560766-169560766
49 F5 NM_000130.5(F5):c.5431A>T (p.Met1811Leu) SNV Uncertain significance 873864 GRCh37: 1:169497321-169497321
GRCh38: 1:169528083-169528083
50 F5 NM_000130.4(F5):c.5265A>G (p.Ile1755Met) SNV Uncertain significance 579171 rs41272455 GRCh37: 1:169499000-169499000
GRCh38: 1:169529762-169529762

Expression for Thrombophilia Due to Thrombin Defect

Search GEO for disease gene expression data for Thrombophilia Due to Thrombin Defect.

Pathways for Thrombophilia Due to Thrombin Defect

Pathways related to Thrombophilia Due to Thrombin Defect according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
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11.69 PROC F2 F10
8 11.63 THBD SERPINE1 F3
9 10.72 PROC F2 F10
10 10.55 SERPINE1 PLAT

GO Terms for Thrombophilia Due to Thrombin Defect

Cellular components related to Thrombophilia Due to Thrombin Defect according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.11 TNXA SERPINE1 SERPINC1 PROCR PLOD1 PLAT
2 extracellular region GO:0005576 10.06 SERPINE1 SERPINC1 PROCR PROC PLAT PF4
3 cell surface GO:0009986 9.91 THBD PROCR PLAT FGA F3 APOH
4 endoplasmic reticulum lumen GO:0005788 9.87 SERPINC1 PROC FGA F8 F5 F2
5 extracellular space GO:0005615 9.83 THBD SERPINE1 SERPINC1 PROCR PROC PLAT
6 platelet alpha granule lumen GO:0031093 9.73 SERPINE1 PF4 FGA F8 F5 F13A1
7 blood microparticle GO:0072562 9.71 SERPINC1 FGA F2 F13A1
8 Golgi lumen GO:0005796 9.67 PROC F2 F10
9 platelet alpha granule GO:0031091 9.48 FGA F5
10 intrinsic component of external side of plasma membrane GO:0031233 9.37 F3 F10
11 collagen-containing extracellular matrix GO:0062023 9.32 TNXA SERPINE1 SERPINC1 PLAT PF4 FGA

Biological processes related to Thrombophilia Due to Thrombin Defect according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.97 PROC PLAT HABP2 F2 F10
2 cellular protein metabolic process GO:0044267 9.91 SERPINC1 PROC FGA F5 F2
3 ER to Golgi vesicle-mediated transport GO:0006888 9.89 PROC F8 F5 F2 F10
4 platelet activation GO:0030168 9.83 PF4 FGA F8 F2
5 hemostasis GO:0007599 9.73 THBD SERPINC1 PROCR PROC FGA F8
6 platelet degranulation GO:0002576 9.7 SERPINE1 PF4 FGA F8 F5 F13A1
7 fibrinolysis GO:0042730 9.67 SERPINE1 PLAT FGA F2
8 blood coagulation, intrinsic pathway GO:0007597 9.65 F8 F2 APOH
9 positive regulation of blood coagulation GO:0030194 9.63 SERPINE1 F2 APOH
10 negative regulation of blood coagulation GO:0030195 9.62 THBD SERPINE1 PROC APOH
11 regulation of blood coagulation GO:0030193 9.61 SERPINC1 F2 APOH
12 plasminogen activation GO:0031639 9.58 PLAT FGA APOH
13 negative regulation of platelet activation GO:0010544 9.57 THBD F2
14 negative regulation of coagulation GO:0050819 9.56 PROCR PROC
15 negative regulation of fibrinolysis GO:0051918 9.56 THBD SERPINE1 F2 APOH
16 blood coagulation, fibrin clot formation GO:0072378 9.55 FGA F13A1
17 blood coagulation, extrinsic pathway GO:0007598 9.54 F3 F10
18 blood coagulation GO:0007596 9.47 THBD SERPINC1 PROCR PROC PLAT HABP2

Molecular functions related to Thrombophilia Due to Thrombin Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.65 PROC PLAT HABP2 F2 F10
2 phospholipid binding GO:0005543 9.54 F3 F10 APOH
3 protease binding GO:0002020 9.5 SERPINE1 SERPINC1 F3
4 heparin binding GO:0008201 9.46 SERPINC1 PF4 F2 APOH
5 serine-type peptidase activity GO:0008236 9.35 PROC PLAT HABP2 F2 F10
6 serine-type endopeptidase activity GO:0004252 9.1 PROC PLAT HABP2 F3 F2 F10

Sources for Thrombophilia Due to Thrombin Defect

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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