THPH1
MCID: THR092
MIFTS: 74

Thrombophilia Due to Thrombin Defect (THPH1)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare 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 74 13
Venous Thrombosis 57 74 29 55 6 72
Venous Thromboembolism 57 74 17 72
Thromboembolism 57 55 6 72
Venous Thromboembolism, Susceptibility to 57 29 6
Venous Thrombosis, Protection Against 57 6
Thrombophilia Due to Factor 2 Defect 57 74
Venous Thrombosis, Susceptibility to 29 6
Thromboembolism, Susceptibility to 57 29
Thph1 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood


HPO:

32
thrombophilia due to thrombin defect:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


Classifications:



External Ids:

MeSH 44 D019851
UMLS 72 C0040038 C0042487 C1861172

Summaries for Thrombophilia Due to Thrombin Defect

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)

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

UniProtKB/Swiss-Prot : 74 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
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 1475)
# Related Disease Score Top Affiliating Genes
1 may-thurner syndrome 33.4 F5 APOH
2 protein s deficiency 32.5 SERPINC1 MTHFR F5 F3 F2 APOH
3 post-thrombotic syndrome 32.4 SERPINE1 SERPINC1 F8 F5 F2
4 antithrombin iii deficiency 32.4 SERPINC1 MTHFR F5 F2 F10 APOH
5 homocysteinemia 32.3 SERPINC1 MTHFR F5 F2 CBS
6 portal vein thrombosis 32.1 SERPINE1 SERPINC1 MTHFR F5 F2 APOH
7 papilledema 31.4 F2 APOH
8 heparin-induced thrombocytopenia 31.2 SERPINC1 F3 F10
9 thrombocytosis 31.1 SERPINC1 F3 F2
10 cerebral sinovenous thrombosis 31.0 F5 F3 F2 APOH
11 sagittal sinus thrombosis 31.0 SERPINC1 F5 F3 F2
12 prothrombin deficiency 30.7 F3 F2
13 lemierre's syndrome 30.7 SERPINE1 MTHFR F3
14 pregnancy loss, recurrent 1 30.7 F5 APOH
15 intracranial embolism 30.6 SERPINC1 PLAT F2
16 mesenteric vascular occlusion 30.6 MTHFR F2
17 cerebral palsy 30.5 MTHFR F5 F2
18 factor xii deficiency 30.5 SERPINC1 F5 F3 APOH
19 homocystinuria 30.4 SERPINC1 MTHFR F5 CBS
20 severe pre-eclampsia 30.4 SERPINC1 F5 APOH
21 budd-chiari syndrome 30.4 SERPINC1 MTHFR F5 F3 F2 APOH
22 sticky platelet syndrome 30.4 SERPINE1 SERPINC1 F5
23 varicose veins 30.4 VWF SERPINC1 MTHFR F5 F2
24 eclampsia 30.4 THBD SERPINC1 MTHFR F2
25 thrombasthenia 30.4 MTHFR F5 F3 F2
26 acquired hemophilia a 30.3 F8 F5 F3
27 intracranial hypertension 30.3 SERPINE1 SERPINC1 MTHFR F5 F3 F2
28 coronary heart disease 1 30.3 SERPINE1 PLAT MTHFR
29 sudden sensorineural hearing loss 30.2 MTHFR F5 F2 APOH
30 vasculitis 30.2 VWF THBD APOH
31 leech infestation 30.2 SERPINC1 F3 F2 F10
32 protein c deficiency 30.2 THBD SERPINC1 PROC MTHFR F5 F2
33 venous insufficiency 30.2 VWF SERPINE1 PLAT F2
34 central retinal vein occlusion 30.2 SERPINC1 MTHFR F5 F2 APOH
35 amaurosis fugax 30.1 SERPINE1 MTHFR F5
36 endocarditis 30.1 SERPINC1 PLAT F2 APOH
37 hemoglobin e disease 30.1 F5 F2
38 acquired hemophilia 30.0 F8 F5 F3 F10
39 infective endocarditis 30.0 SERPINE1 F2 APOH
40 active peptic ulcer disease 30.0 VWF F2
41 hemophilia b 30.0 SERPINC1 F8 F3 F2 F10
42 femoral neuropathy 30.0 F3 F2
43 hemophilia 30.0 VWF F8 F3 F2
44 factor vii deficiency 29.9 F8 F3 F2 F10
45 ischemic colitis 29.9 SERPINE1 SERPINC1 F5 F2 APOH
46 coronary artery anomaly 29.9 SERPINE1 PLAT F5 F2
47 fibrinolytic defect 29.9 SERPINE1 SERPINC1 PLAT
48 behcet syndrome 29.9 THBD SERPINC1 F5 APOH
49 neonatal stroke 29.9 SERPINE1 PROC MTHFR
50 carotid artery thrombosis 29.9 SERPINE1 PLAT F3 F10

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:

32
# Description HPO Frequency HPO Source Accession
1 thromboembolism 32 HP:0001907
2 pulmonary embolism 32 HP:0002204
3 deep venous thrombosis 32 HP:0002625
4 cerebral venous thrombosis 32 HP:0005305
5 recurrent thrombophlebitis 32 HP:0004419

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
pulmonary embolism

Neurologic Central Nervous System:
cerebral thrombosis

Cardiovascular Vascular:
deep vein thrombosis
thrombosis, recurrent

Clinical features from OMIM:

188050

MGI Mouse Phenotypes related to Thrombophilia Due to Thrombin Defect:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 APOH F10 F13A1 F2 F3 F5
2 cardiovascular system MP:0005385 10.27 F10 F13A1 F2 F3 F5 PLAT
3 hematopoietic system MP:0005397 10.17 F13A1 F2 F3 F8 PLAT PROC
4 immune system MP:0005387 10.11 F2 F3 F8 HABP2 PLAT PROC
5 mortality/aging MP:0010768 10.09 APOH F10 F13A1 F2 F3 F5
6 integument MP:0010771 9.92 F2 F3 F5 MTHFR PLAT PLOD1
7 liver/biliary system MP:0005370 9.8 F5 HABP2 MTHFR PROC SERPINC1 SERPINE1
8 reproductive system MP:0005389 9.56 F10 F13A1 F2 F8 MTHFR PLAT
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 525)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acenocoumarol Approved, Investigational Phase 4 152-72-7 9052 54676537
2
Norethindrone Approved Phase 4 68-22-4 6230
3
Tinzaparin Approved Phase 4 9005-49-6, 9041-08-1 25244225
4 Bemiparin Approved, Investigational Phase 4 91449-79-5
5
Tranylcypromine Approved, Investigational Phase 4 155-09-9 441233
6
Acetaminophen Approved Phase 4 103-90-2 1983
7
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
8
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
9
Zoledronic Acid Approved Phase 4 118072-93-8 68740
10
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
11
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
12
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
13
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
14
Epoprostenol Approved Phase 4 35121-78-9, 61849-14-7 5282411 5280427
15
Streptokinase Approved, Investigational Phase 4 9002-01-1
16
Apixaban Approved Phase 4 503612-47-3 10182969
17
Dalteparin Approved Phase 4 9005-49-6
18
Edoxaban Approved Phase 4 480449-70-5
19
Betrixaban Approved, Investigational Phase 4 330942-05-7
20
tannic acid Approved Phase 4 1401-55-4
21
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
22
Ticagrelor Approved Phase 4 274693-27-5 9871419
23
Dipyridamole Approved Phase 4 58-32-2 3108
24
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
25
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
26
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
27
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
28
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
29
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
30
Ferrous fumarate Approved Phase 4 141-01-5
31
Verapamil Approved Phase 4 52-53-9 2520
32
Desogestrel Approved Phase 4 54024-22-5 40973
33
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715 40976
34
Methyltestosterone Approved Phase 4 58-18-4 6010
35
Testosterone enanthate Approved Phase 4 315-37-7 9416
36
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
37
Salmon Calcitonin Approved, Investigational Phase 4 47931-85-1 16129616
38
Phenprocoumon Approved, Investigational Phase 4 435-97-2 9908 54680692
39
Atorvastatin Approved Phase 4 134523-00-5 60823
40
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
41
Racepinephrine Approved Phase 4 329-65-7 838
42
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
43
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
44
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
45
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
46
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
47
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
48
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
49
Morphine Approved, Investigational Phase 4 57-27-2 5288826
50
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474

Interventional clinical trials:

(show top 50) (show all 1693)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Weight Based Enoxaparin for Venous Thromboembolism Prophylaxis in Trauma Patients Unknown status NCT01916707 Phase 4 Dosing of enoxaparin for VTE prophylaxis
4 Thromboprophylaxis During Bariatric Surgery Unknown status NCT00444652 Phase 4 Enoxaparin
5 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
6 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
7 Fixed-dose vs. Phenotype-based PrAsugrel Dose to MATCH Therapeutic Zone in Asians With Acute Coronary Syndrome Unknown status NCT01951001 Phase 4 Prasugrel
8 Comparison of Topical and Infusion Tranexamic Acid on Blood Loss and Risk of Deep Vein Thrombosis After Total Knee Arthroplasty Unknown status NCT02453802 Phase 4 Tranexamic Acid 5%,5ml/amp;Tranexamic Acid 5%,5ml/amp;rivaroxaban (10mg);0.9% Normal Saline;0.9% Normal Saline
9 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
10 Randomized Controlled Trial of Patient Self-Testing of Warfarin Therapy Using an Internet Based Expert System Unknown status NCT00594828 Phase 4
11 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
12 Outcome of Percutaneous Mechanical Thrombectomy to Treat Acute Deep Venous Thrombosis Unknown status NCT02959801 Phase 4
13 Study of the OmniWave Endovascular System in Subjects With Lower and Upper Extremity Deep Vein Thrombosis - SONIC I Study Unknown status NCT00640731 Phase 4
14 Tranexamic Acid in Knee Joint Surgery - a Randomised Controlled Trial Unknown status NCT02278263 Phase 4 Tranexamic Acid;Normal saline (0.9% NaCl)
15 Validation of a Device for Performing Valgus and Varus Stress X-rays of the Knee Unknown status NCT02444663 Phase 4
16 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
17 Two Weeks of Low Molecular Weight Heparin for Distal Vein Thrombosis (TWISTER) Unknown status NCT01252420 Phase 4 Enoxaparin
18 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
19 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
20 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
21 Low Dose Prolonged Infusion of Tissue Type Plasminogen Activator Therapy in Massive Pulmonary Embolism: AYKAN Trial Unknown status NCT02029456 Phase 4 25 mg Actilyse ( Boehringer Ingelheim, Germany) infusion in 6 hours
22 A Safety and Efficacy Study for Implantation and Retrieval Procedures Using the VENATECH® Retrieval Filter System Unknown status NCT02674672 Phase 4
23 The VICTORIA Study (Vascular CalcIfiCation and sTiffness Induced by ORal antIcoAgulation) Comparison Anti-vitamin K Versus Anti-Xa. Unknown status NCT02161965 Phase 4 Rivaroxaban;Fluindione;Warfarin
24 Applying Pharmacogenetics to Warfarin Dosing in Chinese Patients Unknown status NCT01610141 Phase 4
25 Effect of Mosapride on Postoperative Ileus in Patients Undergoing Colorectal Surgery Unknown status NCT02056405 Phase 4 Mosapride;Placebo
26 Safety and Efficacy of Transvenous Pulmonary Isolation for the Treatment of Atrial Fibrillation: A Prospective Randomized Study Comparing Radiofrequency Energy With Cryoenergy Unknown status NCT00773539 Phase 4
27 Comparison of Combined Topical Tranexamic Acid With Floseal® With Intravenous Tranexamic Acid on Blood Loss in Total Knee Arthroplasty Unknown status NCT03328832 Phase 4 Topical tranexamic acid;Floseal®;rivaroxaban (10mg)
28 Rule Out Transcatheter Aortic Valve Thrombosis With Post Implantation Computed Tomography Unknown status NCT02826200 Phase 4 Acenocoumarol
29 Phenprocoumon Versus Dabigatran in Subjects With Atrial Fibrillation and Left Atrial Thrombus - a Prospective, Randomized, Controlled, Open-label One Year Follow-up Pilot Study Unknown status NCT02591225 Phase 4 Dabigatranetexilate;Phenprocoumon
30 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
31 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
32 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)
33 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
34 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
35 Use of Fondaparinux in Critically Ill Patients With Renal Failure Completed NCT01467583 Phase 4 Fondaparinux
36 A Non-Randomized Prospective Study of IVC Filter Retrieval Completed NCT00196118 Phase 4
37 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
38 Residual Vein Thrombosis (RVT) Establishes the Optimal Duration of Oral Anticoagulants After a First Episode of Deep Vein Thrombosis of the Lower Limbs Completed NCT00438230 Phase 4 Warfarin
39 Plasma Anti-FXa Concentration After Continuous Intravenous Infusion and Subcutaneous Dosing of Enoxaparin for Thromboprophylaxis in Critically Ill Patients Completed NCT02095509 Phase 4 Enoxaparin
40 Absence of Residual Vein Thrombosis After an Episode of Unprovoked Deep Vein Thrombosis: Short-Term Anticoagulation is Safe. Completed NCT00623987 Phase 4 warfarin accordingly INR value
41 A Phase IV, Open-Label, Multi-center Study to Evaluate the Safety of Apixaban in Indian Subjects Undergoing Elective Total Knee Replacement or Total Hip Replacement Surgery Completed NCT01884337 Phase 4 Apixaban
42 A Pilot Study in Cancer Patients With Central Venous Catheter Associated Deep Vein Thrombosis in the Upper Extremity Treated With Rivaroxaban (Catheter 2) Completed NCT01708850 Phase 4 Rivaroxaban
43 Randomized Clinical Trial of Dalteparin for Primary Venous Thromboembolism (VTE) Prophylaxis in Pancreatic Cancer Patients Undergoing Chemotherapy Treatment. Completed NCT00966277 Phase 4 Dalteparin
44 Comparison of Bleeding Risk Between Rivaroxaban and Apixaban for the Treatment of Acute Venous Thromboembolism: The Pilot Study Completed NCT02559856 Phase 4 Apixaban;Rivaroxaban
45 Weight-Adjusted Dosing of Tinzaparin in Pregnancy Completed NCT00851864 Phase 4 Tinzaparin
46 FRAG-A001-401: Dalteparin Sodium Injection (Fragmin), Multicenter, Open-Label, Single-arm, Long Term (52 Weeks) Study for Understanding the Safety and Efficacy in Subjects With Malignancies and Symptomatic Venous Thromboembolism Completed NCT00942968 Phase 4 dalteparin
47 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
48 Spreading and Improving DVT Prophylaxis at Mayo Clinic (DVT-P-Spread) Completed NCT01304108 Phase 4
49 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
50 9-10 Days Versus Prolonged Thromboprophylaxis in Patients Without Evidence of Ultrasound Proximal Thromboembolism After Total Knee Joint Replacement: a Randomized Controlled Trial Completed NCT00362492 Phase 4

Search NIH Clinical Center for Thrombophilia Due to Thrombin Defect

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Acenocoumarol
Acetylsalicylic acid
anisindione
apixaban
ardeparin
ardeparin sodium
argatroban
Betrixaban
Dalteparin
Dalteparin
Dalteparin Sodium
danaparoid
Danaparoid sodium
Dextran
Dicumarol
Enoxaparin
fondaparinux
heparin
Heparin
heparin calcium
heparin sodium
HEPARIN SODIUM (BEEF LUNG)
heparin sodium, bovine
heparin sodium, porcine
lepirudin
Nadroparin
Papaverine
Papaverine Hydrochloride
Phenprocoumon
rivaroxaban
Streptokinase
tinzaparin
Tinzaparin
Tinzaparin sodium
Urokinase
Warfarin
Warfarin
Warfarin Sodium
WARFARIN SODIUM ISOPROPANOL COMPLEX

Genetic Tests for Thrombophilia Due to Thrombin Defect

Genetic tests related to Thrombophilia Due to Thrombin Defect:

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

Anatomical Context for Thrombophilia Due to Thrombin Defect

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

41
Testes, Lung, Liver, Brain, Heart, Breast, Kidney

Publications for Thrombophilia Due to Thrombin Defect

Articles related to Thrombophilia Due to Thrombin Defect:

(show top 50) (show all 25138)
# Title Authors PMID Year
1
The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. 9 38 8 71
10477778 1999
2
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. 9 38 8 71
8916933 1996
3
Frequent factor II G20210A mutation in idiopathic portal vein thrombosis. 38 8 71
9869612 1999
4
Thrombosis from a prothrombin mutation conveying antithrombin resistance. 8 71
22716977 2012
5
Clinical and analytical relevance of the combination of prothrombin 20210A/A and factor V Leiden: results from a large family. 8 71
10233438 1999
6
Mutations within the protein Z-dependent protease inhibitor gene are associated with venous thromboembolic disease: a new form of thrombophilia. 9 38 71
15461625 2004
7
A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1. 38 8
20226436 2010
8
A novel polymorphism in the factor XIII B-subunit (His95Arg): relationship to subunit dissociation and venous thrombosis. 38 71
16241947 2005
9
Marburg I polymorphism of factor VII-activating protease is associated with idiopathic venous thromboembolism. 9 71
15486068 2005
10
Genetic susceptibility to venous thrombosis. 38 8
11309638 2001
11
Born to clot: the European burden. 38 71
10233439 1999
12
Factor XIII Val34Leu is a genetic factor involved in the etiology of venous thrombosis. 38 71
10365735 1999
13
Venous thrombosis as a chronic disease. 38 8
10089190 1999
14
Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A. 38 71
9531249 1998
15
HABP2 Mutation and Nonmedullary Thyroid Cancer. 71
26581001 2015
16
HABP2 Mutation and Nonmedullary Thyroid Cancer. 71
26581003 2015
17
HABP2 Mutation and Nonmedullary Thyroid Cancer. 71
26581004 2015
18
HABP2 Mutation and Nonmedullary Thyroid Cancer. 71
26581005 2015
19
HABP2 Mutation and Nonmedullary Thyroid Cancer. 71
26581002 2015
20
Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer. 71
26222560 2015
21
Management of inherited thrombophilia: guide for genetics professionals. 8
21707594 2012
22
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. 71
19531787 2009
23
Factor XIII Val34Leu variant and the risk of myocardial infarction: a meta-analysis. 71
17393027 2007
24
Prothrombin-Related Thrombophilia 71
20301327 2006
25
Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites approximately 24,000 years ago. 71
16493002 2006
26
Functional polymorphisms of FGA, encoding alpha fibrinogen, are associated with susceptibility to venous thromboembolism in a Taiwanese population. 71
16362348 2006
27
Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. 71
15534175 2004
28
Genetic variants of coagulation factor XIII, postmenopausal estrogen therapy, and risk of nonfatal myocardial infarction. 71
12456499 2003
29
Marburg I polymorphism of factor VII--activating protease: a prominent risk predictor of carotid stenosis. 71
12578864 2003
30
The frequent Marburg I polymorphism impairs the pro-urokinase activating potency of the factor VII activating protease (FSAP). 71
12138371 2002
31
The effect of the Val34Leu polymorphism in the factor XIII gene in infants with a birth weight below 1500 g. 71
12072871 2002
32
Unilateral chronic thromboembolic pulmonary disease associated with combined inherited thrombophilia. 71
11796466 2002
33
[A family with multiple thrombosis including infancy occurrence]. 8
11570053 2001
34
Thrombophilic gene mutations and recurrent spontaneous abortion: prothrombin mutation increases the risk in the first trimester. 71
11506076 2001
35
Increased efficiency of mRNA 3' end formation: a new genetic mechanism contributing to hereditary thrombophilia. 71
11443298 2001
36
The factor XIII V34L polymorphism accelerates thrombin activation of factor XIII and affects cross-linked fibrin structure. 71
10910914 2000
37
alpha-fibrinogen Thr312Ala polymorphism and venous thromboembolism. 71
10910940 2000
38
Budd-Chiari syndrome in a patient heterozygous for both factor V Leiden and the G20210A mutation on the prothrombin gene. 71
10544935 1999
39
Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism. 71
10406905 1999
40
The 20210A allele of the prothrombin gene is an independent risk factor for perception deafness in patients with venous thromboembolic antecedents. 71
10336270 1999
41
A comparison of three months of anticoagulation with extended anticoagulation for a first episode of idiopathic venous thromboembolism. 8
10089183 1999
42
Simultaneous genotyping for factor V Leiden and prothrombin G20210A variant by a multiplex PCR-SSCP assay on whole blood. 71
10348711 1999
43
The prevalence of the prothrombin 20210 G-->A mutation is not increased in angiographically confirmed coronary artery disease. 71
10348710 1999
44
The 20210 G to A prothrombin polymorphism and late complications in type 1 diabetes mellitus. 71
10348712 1999
45
The 20210 G-->A mutation in the 3'-untranslated region of the prothrombin gene and the risk for arterial thrombotic disease. 71
10027711 1999
46
A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene. 71
9694698 1998
47
Geographic distribution of the 20210 G to A prothrombin variant. 71
9569177 1998
48
Factor XIII Val 34 Leu: a novel association with primary intracerebral hemorrhage. 71
9550516 1998
49
Budd-Chiari syndrome in a patient heterozygous for the G20210A mutation of the prothrombin gene. 71
9493607 1998
50
Association of a common polymorphism in the factor XIII gene with myocardial infarction. 71
9459313 1998

Variations for Thrombophilia Due to Thrombin Defect

ClinVar genetic disease variations for Thrombophilia Due to Thrombin Defect:

6 (show top 50) (show all 166)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PLOD1 GRCh37/hg19 1p36.22(chr1: 12019879-12028775) copy number gain Pathogenic 1:12019879-12028775 :0-0
2 F2 NM_000506.4(F2): c.*97G> A single nucleotide variant Pathogenic rs1799963 11:46761055-46761055 11:46739505-46739505
3 PLOD1 GRCh37/hg19 1p36.22(chr1: 12019879-12028775) copy number gain Pathogenic 1:12019879-12028775 :0-0
4 PLOD1 GRCh37/hg19 1p36.22(chr1: 12019879-12028775) copy number gain Pathogenic 1:12019879-12028775 :0-0
5 MTHFR NM_005957.4(MTHFR): c.665C> T (p.Ala222Val) single nucleotide variant drug response rs1801133 1:11856378-11856378 1:11796321-11796321
6 F2 NM_000506.4(F2): c.1602G> A (p.Pro534=) single nucleotide variant Conflicting interpretations of pathogenicity rs5900 11:46751059-46751059 11:46729509-46729509
7 F2 NM_000506.4(F2): c.1233G> A (p.Pro411=) single nucleotide variant Conflicting interpretations of pathogenicity rs5898 11:46749648-46749648 11:46728098-46728098
8 F2 NM_000506.4(F2): c.1787G> T (p.Arg596Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs387907201 11:46760876-46760876 11:46739326-46739326
9 MTHFR NM_005957.4(MTHFR): c.1556G> T (p.Arg519Leu) single nucleotide variant Uncertain significance rs45449298 1:11852411-11852411 1:11792354-11792354
10 SERPINA10 NM_001100607.3(SERPINA10): c.972G> A (p.Trp324Ter) single nucleotide variant Uncertain significance rs61754487 14:94754643-94754643 14:94288306-94288306
11 F5 NM_000130.4(F5): c.*1488T> C single nucleotide variant Uncertain significance rs75764442 1:169482063-169482063 1:169512825-169512825
12 F5 NM_000130.4(F5): c.*441C> T single nucleotide variant Uncertain significance rs188490117 1:169483110-169483110 1:169513872-169513872
13 F5 NM_000130.4(F5): c.*157A> T single nucleotide variant Uncertain significance rs886045539 1:169483394-169483394 1:169514156-169514156
14 F5 NM_000130.4(F5): c.*104A> C single nucleotide variant Uncertain significance rs886045540 1:169483447-169483447 1:169514209-169514209
15 F5 NM_000130.4(F5): c.6459T> C (p.Tyr2153=) single nucleotide variant Uncertain significance rs773618429 1:169484751-169484751 1:169515513-169515513
16 F5 NM_000130.4(F5): c.5721T> C (p.Cys1907=) single nucleotide variant Uncertain significance rs886045543 1:169494142-169494142 1:169524904-169524904
17 F5 NM_000130.4(F5): c.5589C> A (p.Pro1863=) single nucleotide variant Uncertain significance rs148772659 1:169497163-169497163 1:169527925-169527925
18 F5 NM_000130.4(F5): c.5534A> G (p.His1845Arg) single nucleotide variant Uncertain significance rs200865371 1:169497218-169497218 1:169527980-169527980
19 F5 NM_000130.4(F5): c.5490G> A (p.Leu1830=) single nucleotide variant Uncertain significance rs149092241 1:169497262-169497262 1:169528024-169528024
20 F5 NM_000130.4(F5): c.*1432C> T single nucleotide variant Uncertain significance rs886045536 1:169482119-169482119 1:169512881-169512881
21 F5 NM_000130.4(F5): c.*598T> G single nucleotide variant Uncertain significance rs544753372 1:169482953-169482953 1:169513715-169513715
22 F2 NM_000506.4(F2): c.1726-59G> A single nucleotide variant Uncertain significance rs3136516 11:46760756-46760756 11:46739206-46739206
23 F2 NM_000506.4(F2): c.*96C> T single nucleotide variant Uncertain significance rs72550707 11:46761054-46761054 11:46739504-46739504
24 F5 NM_000130.4(F5): c.*476C> T single nucleotide variant Uncertain significance rs72708017 1:169483075-169483075 1:169513837-169513837
25 F5 NM_000130.4(F5): c.*400C> G single nucleotide variant Uncertain significance rs886045537 1:169483151-169483151 1:169513913-169513913
26 F5 NM_000130.4(F5): c.*396C> A single nucleotide variant Uncertain significance rs181328696 1:169483155-169483155 1:169513917-169513917
27 F5 NM_000130.4(F5): c.*216T> A single nucleotide variant Uncertain significance rs186962725 1:169483335-169483335 1:169514097-169514097
28 F5 NM_000130.4(F5): c.6360G> A (p.Lys2120=) single nucleotide variant Uncertain significance rs757104503 1:169484850-169484850 1:169515612-169515612
29 F5 NM_000130.4(F5): c.6309G> A (p.Leu2103=) single nucleotide variant Uncertain significance rs35369423 1:169487686-169487686 1:169518448-169518448
30 F5 NM_000130.4(F5): c.5788+4A> T single nucleotide variant Uncertain significance rs759428783 1:169494071-169494071 1:169524833-169524833
31 F5 NM_000130.4(F5): c.*1170G> A single nucleotide variant Uncertain significance rs191866237 1:169482381-169482381 1:169513143-169513143
32 F5 NM_000130.4(F5): c.5054C> G (p.Thr1685Ser) single nucleotide variant Uncertain significance rs6011 1:169500178-169500178 1:169530940-169530940
33 F5 NM_000130.4(F5): c.4405T> C (p.Ser1469Pro) single nucleotide variant Uncertain significance rs144262027 1:169509923-169509923 1:169540685-169540685
34 F5 NM_000130.4(F5): c.3851C> T (p.Thr1284Ile) single nucleotide variant Uncertain significance rs139573207 1:169510477-169510477 1:169541239-169541239
35 F5 NM_000130.4(F5): c.3442T> C (p.Ser1148Pro) single nucleotide variant Uncertain significance rs369276714 1:169510886-169510886 1:169541648-169541648
36 F5 NM_000130.4(F5): c.2222A> G (p.Asn741Ser) single nucleotide variant Uncertain significance rs144979314 1:169512106-169512106 1:169542868-169542868
37 F5 NM_000130.4(F5): c.1034G> A (p.Arg345Gln) single nucleotide variant Uncertain significance rs201078171 1:169524504-169524504 1:169555266-169555266
38 F5 NM_000130.4(F5): c.936C> T (p.Thr312=) single nucleotide variant Uncertain significance rs758832130 1:169525900-169525900 1:169556662-169556662
39 F5 NM_000130.4(F5): c.886G> A (p.Ala296Thr) single nucleotide variant Uncertain significance rs748350385 1:169525950-169525950 1:169556712-169556712
40 F5 NM_000130.4(F5): c.885C> T (p.Thr295=) single nucleotide variant Uncertain significance rs148752831 1:169525951-169525951 1:169556713-169556713
41 F5 NM_000130.4(F5): c.538G> A (p.Glu180Lys) single nucleotide variant Uncertain significance rs143152035 1:169529840-169529840 1:169560602-169560602
42 F5 NM_000130.4(F5): c.437G> A (p.Arg146Gln) single nucleotide variant Uncertain significance rs145625079 1:169529941-169529941 1:169560703-169560703
43 F5 NM_000130.4(F5): c.*2053G> C single nucleotide variant Uncertain significance rs886045534 1:169481498-169481498 1:169512260-169512260
44 F5 NM_000130.4(F5): c.5124C> T (p.Tyr1708=) single nucleotide variant Uncertain significance rs199568344 1:169500108-169500108 1:169530870-169530870
45 F5 NM_000130.4(F5): c.4835A> T (p.Asp1612Val) single nucleotide variant Uncertain significance rs141589936 1:169505880-169505880 1:169536642-169536642
46 F5 NM_000130.4(F5): c.4356C> A (p.Ser1452Arg) single nucleotide variant Uncertain significance rs751749207 1:169509972-169509972 1:169540734-169540734
47 F5 NM_000130.4(F5): c.4035A> G (p.Gln1345=) single nucleotide variant Uncertain significance rs886045547 1:169510293-169510293 1:169541055-169541055
48 F5 NM_000130.4(F5): c.3949G> A (p.Gly1317Ser) single nucleotide variant Uncertain signifi