THPH1
MCID: THR092
MIFTS: 73

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 56 73 13
Venous Thrombosis 56 73 29 54 6 71
Venous Thromboembolism 56 73 17 71
Thromboembolism 56 54 6 71
Venous Thromboembolism, Susceptibility to 56 29 6
Venous Thrombosis, Protection Against 56 6
Thrombophilia Due to Factor 2 Defect 56 73
Venous Thrombosis, Susceptibility to 29 6
Thromboembolism, Susceptibility to 56 29
Thph1 56 73
Thrombophilia,due to Thrombin Defect 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood


HPO:

31
thrombophilia due to thrombin defect:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


Classifications:



External Ids:

OMIM 56 188050
OMIM Phenotypic Series 56 PS188050
MeSH 43 D019851
UMLS 71 C0040038 C0042487 C1861172

Summaries for Thrombophilia Due to Thrombin Defect

OMIM : 56 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 prothrombin-related thrombophilia. 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 Nadroparin 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 : 73 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 1466)
# Related Disease Score Top Affiliating Genes
1 may-thurner syndrome 33.1 F5 APOH
2 prothrombin-related thrombophilia 32.8 MTHFR HABP2 F2 F13A1
3 mitral valve stenosis 31.9 SERPINC1 PF4 F3 F2
4 antithrombin iii deficiency 31.6 SERPINC1 PF4 MTHFR F5 F2 F10
5 post-thrombotic syndrome 31.6 SERPINE1 SERPINC1 PLAT F8 F5 F3
6 homocysteinemia 31.5 THBD SERPINE1 SERPINC1 MTHFR F5 F2
7 intracranial hypotension 31.1 F3 F2
8 portal vein thrombosis 31.1 SERPINE1 SERPINC1 PROC PLAT MTHFR F5
9 papilledema 31.0 SERPINC1 F3 F2 APOH
10 portal hypertension 30.9 SERPINE1 F3 F2
11 mastoiditis 30.9 SERPINC1 MTHFR F2
12 lateral sinus thrombosis 30.9 SERPINC1 MTHFR F2
13 sagittal sinus thrombosis 30.8 SERPINC1 F5 F3 F2
14 cavernous sinus thrombosis 30.8 SERPINC1 F2
15 thoracic outlet syndrome 30.8 SERPINC1 PLAT F2
16 lemierre's syndrome 30.8 MTHFR F3 F2
17 chronic venous insufficiency 30.7 SERPINE1 PLAT MTHFR F2
18 cardiovascular system disease 30.7 THBD SERPINE1 SERPINC1 PLAT PF4 MTHFR
19 paroxysmal nocturnal hemoglobinuria 30.7 THBD SERPINC1 F2
20 esophageal varix 30.7 SERPINC1 F3 F2
21 hemoglobinuria 30.7 THBD SERPINC1 F2
22 venous insufficiency 30.7 SERPINE1 PLAT MTHFR F5 F2
23 cerebral sinovenous thrombosis 30.7 MTHFR F5 F3 F2 APOH
24 compartment syndrome 30.5 SERPINC1 F8 F3 F2
25 active peptic ulcer disease 30.4 F3 F2
26 pregnancy loss, recurrent 1 30.3 MTHFR F5 APOH
27 splenic infarction 30.3 SERPINC1 F3 F2 APOH
28 homocystinuria 30.3 THBD SERPINC1 MTHFR F5
29 heparin-induced thrombocytopenia 30.3 SERPINC1 PF4 F3 F10
30 factor xii deficiency 30.3 SERPINC1 F5 F3 APOH
31 varicose veins 30.3 THBD SERPINC1 PLAT MTHFR F5 F2
32 intracranial hypertension 30.3 SERPINE1 SERPINC1 MTHFR F5 F3 F2
33 thrombocytosis 30.2 SERPINC1 PF4 F3 F2
34 acquired hemophilia a 30.2 F8 F5 F3
35 waterhouse-friderichsen syndrome 30.2 SERPINC1 F2
36 sticky platelet syndrome 30.2 SERPINE1 SERPINC1 F5
37 raynaud phenomenon 30.2 THBD APOH
38 thrombasthenia 30.2 MTHFR F5 F3 F2
39 acute cor pulmonale 30.2 PLAT F3
40 coronary heart disease 1 30.2 SERPINE1 PLAT MTHFR
41 hemopericardium 30.1 F3 F2
42 thrombophlebitis migrans 30.1 SERPINC1 F3
43 hydrocephalus 30.1 PROC PLOD1 PLAT MTHFR
44 mediastinitis 30.1 F5 F2
45 intracranial embolism 30.1 SERPINC1 PLAT F3 F2
46 factor viii deficiency 30.1 F8 F5 F3 F2 F10
47 protein s deficiency 30.1 THBD SERPINE1 SERPINC1 PROC MTHFR F8
48 porencephaly 30.1 MTHFR F5 F2
49 intracranial hypertension, idiopathic 30.1 F3 F2
50 hepatic coma 30.1 SERPINC1 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:

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

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.27 APOH F10 F13A1 F2 F3 F5
2 cardiovascular system MP:0005385 10.21 F10 F13A1 F2 F3 F5 PLAT
3 hematopoietic system MP:0005397 10.14 F13A1 F2 F3 F8 PF4 PLAT
4 immune system MP:0005387 10.02 F2 F3 F8 HABP2 PLAT PROC
5 integument MP:0010771 9.86 F2 F3 F5 MTHFR PLAT PLOD1
6 mortality/aging MP:0010768 9.86 APOH F10 F13A1 F2 F3 F5
7 liver/biliary system MP:0005370 9.7 F5 HABP2 MTHFR PROC SERPINC1 SERPINE1
8 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 547)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acenocoumarol Approved, Investigational Phase 4 152-72-7 9052 54676537
2
Nadroparin Approved, Investigational Phase 4
3
Norethindrone Approved Phase 4 68-22-4 6230
4
Tinzaparin Approved Phase 4 9005-49-6, 9041-08-1 25244225
5 Bemiparin Approved, Investigational Phase 4 91449-79-5
6 fluindione Approved, Investigational Phase 4 957-56-2
7
Tranylcypromine Approved, Investigational Phase 4 155-09-9 441233
8
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
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 Approved, Vet_approved Phase 4 50-23-7 5754
12
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
13
Epoprostenol Approved Phase 4 61849-14-7, 35121-78-9 5280427 5282411
14
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
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
Dipyridamole Approved Phase 4 58-32-2 3108
23
Ticagrelor Approved Phase 4 274693-27-5 9871419
24
Dronedarone Approved Phase 4 141625-93-6, 141626-36-0 154087
25
Ketoconazole Approved, Investigational Phase 4 65277-42-1 47576
26
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
27 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
28
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
29
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
30
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
31
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
32
Ferrous fumarate Approved Phase 4 141-01-5
33
Salmon Calcitonin Approved, Investigational Phase 4 47931-85-1 16129616
34
Verapamil Approved Phase 4 52-53-9 2520
35
Drospirenone Approved Phase 4 67392-87-4 68873
36
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715 40976
37
Desogestrel Approved Phase 4 54024-22-5 40973
38
Metronidazole Approved Phase 4 443-48-1 4173
39
Methyltestosterone Approved Phase 4 58-18-4 6010
40
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
41
Testosterone enanthate Approved Phase 4 315-37-7 9416
42
Rabeprazole Approved, Investigational Phase 4 117976-89-3 5029
43
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
44
Phenprocoumon Approved, Investigational Phase 4 435-97-2 9908 54680692
45
Atorvastatin Approved Phase 4 134523-00-5 60823
46
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
47
Racepinephrine Approved Phase 4 329-65-7 838
48
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
49
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
50
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119

Interventional clinical trials:

(show top 50) (show all 1746)
# 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 Fixed-dose vs. Phenotype-based PrAsugrel Dose to MATCH Therapeutic Zone in Asians With Acute Coronary Syndrome Unknown status NCT01951001 Phase 4 Prasugrel
7 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
8 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
9 Randomized Controlled Trial of Patient Self-Testing of Warfarin Therapy Using an Internet Based Expert System Unknown status NCT00594828 Phase 4
10 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
11 Outcome of Percutaneous Mechanical Thrombectomy to Treat Acute Deep Venous Thrombosis Unknown status NCT02959801 Phase 4
12 Reducing Blood Loss During Total Knee Arthroplasty Using Tisseel: A Prospective Randomized Control Trial Unknown status NCT03310060 Phase 4 Tisseel;Tranexamic Acid
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 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
20 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
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 Effect of Mosapride on Postoperative Ileus in Patients Undergoing Colorectal Surgery Unknown status NCT02056405 Phase 4 Mosapride;Placebo
24 Applying Pharmacogenetics to Warfarin Dosing in Chinese Patients Unknown status NCT01610141 Phase 4
25 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
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 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
29 Rule Out Transcatheter Aortic Valve Thrombosis With Post Implantation Computed Tomography Unknown status NCT02826200 Phase 4 Acenocoumarol
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 Randomized Controlled Trial for PREvention of VENous ThromboEmbolism Following Radical Prostatectomy (PREVENTER Trial) Completed NCT03006562 Phase 4 Subcutaneous Heparin
37 A Non-Randomized Prospective Study of IVC Filter Retrieval Completed NCT00196118 Phase 4
38 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
39 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
40 Plasma Anti-FXa Concentration After Continuous Intravenous Infusion and Subcutaneous Dosing of Enoxaparin for Thromboprophylaxis in Critically Ill Patients Completed NCT02095509 Phase 4 Enoxaparin
41 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
42 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
43 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
44 Randomized Clinical Trial of Dalteparin for Primary Venous Thromboembolism (VTE) Prophylaxis in Pancreatic Cancer Patients Undergoing Chemotherapy Treatment. Completed NCT00966277 Phase 4 Dalteparin
45 Comparison of Bleeding Risk Between Rivaroxaban and Apixaban for the Treatment of Acute Venous Thromboembolism: The Pilot Study Completed NCT02559856 Phase 4 Apixaban;Rivaroxaban
46 Weight-Adjusted Dosing of Tinzaparin in Pregnancy Completed NCT00851864 Phase 4 Tinzaparin
47 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
48 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
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 Spreading and Improving DVT Prophylaxis at Mayo Clinic (DVT-P-Spread) Completed NCT01304108 Phase 4

Search NIH Clinical Center for Thrombophilia Due to Thrombin Defect

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


anisindione
apixaban
ardeparin
ardeparin sodium
argatroban
Dalteparin
Dalteparin Sodium
danaparoid
Danaparoid sodium
Dicumarol
Enoxaparin
fondaparinux
heparin
heparin calcium
heparin sodium
HEPARIN SODIUM (BEEF LUNG)
heparin sodium, bovine
heparin sodium, porcine
lepirudin
Papaverine
Papaverine Hydrochloride
Phenprocoumon
rivaroxaban
Streptokinase
tinzaparin
Tinzaparin sodium
Urokinase
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 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:

40
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 25442)
# 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. 61 56 54 6
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. 56 6 61 54
8916933 1996
3
Frequent factor II G20210A mutation in idiopathic portal vein thrombosis. 6 56 61
9869612 1999
4
Thrombosis from a prothrombin mutation conveying antithrombin resistance. 6 56
22716977 2012
5
Clinical and analytical relevance of the combination of prothrombin 20210A/A and factor V Leiden: results from a large family. 56 6
10233438 1999
6
Mutations within the protein Z-dependent protease inhibitor gene are associated with venous thromboembolic disease: a new form of thrombophilia. 54 6 61
15461625 2004
7
A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1. 61 56
20226436 2010
8
A novel polymorphism in the factor XIII B-subunit (His95Arg): relationship to subunit dissociation and venous thrombosis. 61 6
16241947 2005
9
Marburg I polymorphism of factor VII-activating protease is associated with idiopathic venous thromboembolism. 6 54
15486068 2005
10
Genetic susceptibility to venous thrombosis. 56 61
11309638 2001
11
Born to clot: the European burden. 6 61
10233439 1999
12
Factor XIII Val34Leu is a genetic factor involved in the etiology of venous thrombosis. 6 61
10365735 1999
13
Venous thrombosis as a chronic disease. 56 61
10089190 1999
14
Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A. 6 61
9531249 1998
15
HABP2 Mutation and Nonmedullary Thyroid Cancer. 6
26581001 2015
16
HABP2 Mutation and Nonmedullary Thyroid Cancer. 6
26581003 2015
17
HABP2 Mutation and Nonmedullary Thyroid Cancer. 6
26581004 2015
18
HABP2 Mutation and Nonmedullary Thyroid Cancer. 6
26581005 2015
19
HABP2 Mutation and Nonmedullary Thyroid Cancer. 6
26581002 2015
20
Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer. 6
26222560 2015
21
Management of inherited thrombophilia: guide for genetics professionals. 56
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. 6
19531787 2009
23
Factor XIII Val34Leu variant and the risk of myocardial infarction: a meta-analysis. 6
17393027 2007
24
Prothrombin-Related Thrombophilia 6
20301327 2006
25
Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites approximately 24,000 years ago. 6
16493002 2006
26
Functional polymorphisms of FGA, encoding alpha fibrinogen, are associated with susceptibility to venous thromboembolism in a Taiwanese population. 6
16362348 2006
27
Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. 6
15534175 2004
28
Genetic variants of coagulation factor XIII, postmenopausal estrogen therapy, and risk of nonfatal myocardial infarction. 6
12456499 2003
29
Marburg I polymorphism of factor VII--activating protease: a prominent risk predictor of carotid stenosis. 6
12578864 2003
30
The frequent Marburg I polymorphism impairs the pro-urokinase activating potency of the factor VII activating protease (FSAP). 6
12138371 2002
31
The effect of the Val34Leu polymorphism in the factor XIII gene in infants with a birth weight below 1500 g. 6
12072871 2002
32
Unilateral chronic thromboembolic pulmonary disease associated with combined inherited thrombophilia. 6
11796466 2002
33
[A family with multiple thrombosis including infancy occurrence]. 56
11570053 2001
34
Thrombophilic gene mutations and recurrent spontaneous abortion: prothrombin mutation increases the risk in the first trimester. 6
11506076 2001
35
Increased efficiency of mRNA 3' end formation: a new genetic mechanism contributing to hereditary thrombophilia. 6
11443298 2001
36
The factor XIII V34L polymorphism accelerates thrombin activation of factor XIII and affects cross-linked fibrin structure. 6
10910914 2000
37
alpha-fibrinogen Thr312Ala polymorphism and venous thromboembolism. 6
10910940 2000
38
Budd-Chiari syndrome in a patient heterozygous for both factor V Leiden and the G20210A mutation on the prothrombin gene. 6
10544935 1999
39
Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism. 6
10406905 1999
40
The 20210A allele of the prothrombin gene is an independent risk factor for perception deafness in patients with venous thromboembolic antecedents. 6
10336270 1999
41
A comparison of three months of anticoagulation with extended anticoagulation for a first episode of idiopathic venous thromboembolism. 56
10089183 1999
42
Simultaneous genotyping for factor V Leiden and prothrombin G20210A variant by a multiplex PCR-SSCP assay on whole blood. 6
10348711 1999
43
The prevalence of the prothrombin 20210 G-->A mutation is not increased in angiographically confirmed coronary artery disease. 6
10348710 1999
44
The 20210 G to A prothrombin polymorphism and late complications in type 1 diabetes mellitus. 6
10348712 1999
45
The 20210 G-->A mutation in the 3'-untranslated region of the prothrombin gene and the risk for arterial thrombotic disease. 6
10027711 1999
46
A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene. 6
9694698 1998
47
Geographic distribution of the 20210 G to A prothrombin variant. 6
9569177 1998
48
Factor XIII Val 34 Leu: a novel association with primary intracerebral hemorrhage. 6
9550516 1998
49
Budd-Chiari syndrome in a patient heterozygous for the G20210A mutation of the prothrombin gene. 6
9493607 1998
50
Association of a common polymorphism in the factor XIII gene with myocardial infarction. 6
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 181) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 F2 NM_000506.4(F2):c.*97G>ASNV Pathogenic,risk factor 13310 rs1799963 11:46761055-46761055 11:46739505-46739505
2 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523237 1:12019879-12028775
3 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523240 1:12019879-12028775
4 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523241 1:12019879-12028775
5 F2 NM_000506.5(F2):c.1787G>A (p.Arg596Gln)SNV Pathogenic 692073 11:46760876-46760876 11:46739326-46739326
6 PROC NM_000312.3(PROC):c.352T>C (p.Phe118Leu)SNV Likely pathogenic 469122 rs1553424043 2:128180699-128180699 2:127423123-127423123
7 PROC NM_000312.3(PROC):c.238-2A>GSNV Likely pathogenic 627040 2:128180491-128180491 2:127422915-127422915
8 PROC NM_000312.3(PROC):c.814C>T (p.Arg272Cys)SNV Likely pathogenic 671 rs121918154 2:128185950-128185950 2:127428374-127428374
9 MTHFR NM_005957.4(MTHFR):c.665C>T (p.Ala222Val)SNV drug response 3520 rs1801133 1:11856378-11856378 1:11796321-11796321
10 PROC NM_000312.3(PROC):c.125G>A (p.Arg42His)SNV Likely pathogenic 161333 rs369504169 2:128178913-128178913 2:127421337-127421337
11 F2 NM_000506.4(F2):c.1233G>A (p.Pro411=)SNV Conflicting interpretations of pathogenicity 256312 rs5898 11:46749648-46749648 11:46728098-46728098
12 F2 NM_000506.4(F2):c.1602G>A (p.Pro534=)SNV Conflicting interpretations of pathogenicity 256313 rs5900 11:46751059-46751059 11:46729509-46729509
13 SERPINC1 NM_000488.3(SERPINC1):c.89T>A (p.Val30Glu)SNV Conflicting interpretations of pathogenicity 18012 rs2227624 1:173884010-173884010 1:173914872-173914872
14 F2 NM_000506.4(F2):c.1787G>T (p.Arg596Leu)SNV Conflicting interpretations of pathogenicity 31922 rs387907201 11:46760876-46760876 11:46739326-46739326
15 F5 NM_000130.4(F5):c.911G>A (p.Gly304Glu)SNV Conflicting interpretations of pathogenicity 627404 1:169525925-169525925 1:169556687-169556687
16 PROC NM_000312.3(PROC):c.386G>A (p.Arg129His)SNV Uncertain significance 627207 2:128180733-128180733 2:127423157-127423157
17 PROS1 NM_001314077.1(PROS1):c.224A>G (p.Asn75Ser)SNV Uncertain significance 627219 3:93646200-93646200 3:93927356-93927356
18 FGG NM_021870.3(FGG):c.447C>A (p.Asn149Lys)SNV Uncertain significance 627074 4:155531304-155531304 4:154610152-154610152
19 FGG NM_021870.3(FGG):c.185T>C (p.Val62Ala)SNV Uncertain significance 627266 4:155533292-155533292 4:154612140-154612140
20 PROS1 NM_001314077.1(PROS1):c.121A>G (p.Ile41Val)SNV Uncertain significance 627134 3:93647597-93647597 3:93928753-93928753
21 F2 NM_000506.4(F2):c.1726-59G>ASNV Uncertain significance 143996 rs3136516 11:46760756-46760756 11:46739206-46739206
22 F2 NM_000506.4(F2):c.*96C>TSNV Uncertain significance 143995 rs72550707 11:46761054-46761054 11:46739504-46739504
23 SERPINA10 NM_001100607.3(SERPINA10):c.972G>A (p.Trp324Ter)SNV Uncertain significance 5106 rs61754487 14:94754643-94754643 14:94288306-94288306
24 F5 NM_000130.4(F5):c.-40T>CSNV Uncertain significance 293645 rs41272465 1:169555664-169555664 1:169586426-169586426
25 F5 NM_000130.4(F5):c.-110C>ASNV Uncertain significance 293647 rs886045552 1:169555734-169555734 1:169586496-169586496
26 F5 NM_000130.4(F5):c.*1290G>ASNV Uncertain significance 293550 rs9332677 1:169482261-169482261 1:169513023-169513023
27 F5 NM_000130.4(F5):c.*891A>GSNV Uncertain significance 293555 rs9332674 1:169482660-169482660 1:169513422-169513422
28 F5 NM_000130.4(F5):c.*390C>TSNV Uncertain significance 293565 rs886045538 1:169483161-169483161 1:169513923-169513923
29 F5 NM_000130.4(F5):c.*149C>GSNV Uncertain significance 293569 rs534748300 1:169483402-169483402 1:169514164-169514164
30 F5 NM_000130.4(F5):c.*581C>ASNV Uncertain significance 293560 rs180742904 1:169482970-169482970 1:169513732-169513732
31 F5 NM_000130.4(F5):c.*363T>GSNV Uncertain significance 293566 rs115882472 1:169483188-169483188 1:169513950-169513950
32 F5 NM_000130.4(F5):c.6629A>T (p.Gln2210Leu)SNV Uncertain significance 293571 rs886045541 1:169483597-169483597 1:169514359-169514359
33 F5 NM_000130.4(F5):c.6589A>G (p.Ile2197Val)SNV Uncertain significance 293572 rs372005449 1:169483637-169483637 1:169514399-169514399
34 F5 NM_000130.4(F5):c.5558G>T (p.Gly1853Val)SNV Uncertain significance 293580 rs182566496 1:169497194-169497194 1:169527956-169527956
35 F5 NM_000130.4(F5):c.6164G>A (p.Arg2055Gln)SNV Uncertain significance 293576 rs886045542 1:169489787-169489787 1:169520549-169520549
36 F5 NM_000130.4(F5):c.5308G>A (p.Val1770Ile)SNV Uncertain significance 293587 rs374815777 1:169498957-169498957 1:169529719-169529719
37 F5 NM_000130.4(F5):c.5419+11C>GSNV Uncertain significance 293585 rs6008 1:169498835-169498835 1:169529597-169529597
38 F5 NM_000130.4(F5):c.5332G>C (p.Glu1778Gln)SNV Uncertain significance 293586 rs886045544 1:169498933-169498933 1:169529695-169529695
39 F5 NM_000130.4(F5):c.5209-12_5209-11delCTshort repeat Uncertain significance 293588 rs886045545 1:169499067-169499068 1:169529829-169529830
40 F5 NM_000130.4(F5):c.4959T>A (p.Asp1653Glu)SNV Uncertain significance 293593 rs886045546 1:169505756-169505756 1:169536518-169536518
41 F5 NM_000130.4(F5):c.4972-14A>CSNV Uncertain significance 293592 rs763080313 1:169500274-169500274 1:169531036-169531036
42 F5 NM_000130.4(F5):c.4333A>G (p.Thr1445Ala)SNV Uncertain significance 293597 rs200204656 1:169509995-169509995 1:169540757-169540757
43 F5 NM_000130.4(F5):c.3801T>C (p.Leu1267=)SNV Uncertain significance 293604 rs559683767 1:169510527-169510527 1:169541289-169541289
44 F5 NM_000130.4(F5):c.3455A>C (p.Glu1152Ala)SNV Uncertain significance 293606 rs543751483 1:169510873-169510873 1:169541635-169541635
45 F5 NM_000130.4(F5):c.3402C>A (p.Asp1134Glu)SNV Uncertain significance 293609 rs373880789 1:169510926-169510926 1:169541688-169541688
46 F5 NM_000130.4(F5):c.3255A>C (p.Thr1085=)SNV Uncertain significance 293613 rs6006 1:169511073-169511073 1:169541835-169541835
47 F5 NM_000130.4(F5):c.*1939T>CSNV Uncertain significance 293543 rs886045535 1:169481612-169481612 1:169512374-169512374
48 F5 NM_000130.4(F5):c.*1780G>TSNV Uncertain significance 293545 rs559071301 1:169481771-169481771 1:169512533-169512533
49 F5 NM_000130.4(F5):c.*762G>ASNV Uncertain significance 293558 rs753366128 1:169482789-169482789 1:169513551-169513551
50 F5 NM_000130.4(F5):c.*838T>CSNV Uncertain significance 293557 rs376103455 1:169482713-169482713 1:169513475-169513475

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
1
Show member pathways
13.08 THBD SERPINE1 SERPINC1 PROCR PROC PLAT
2
Show member pathways
12.68 THBD SERPINC1 PROC PLOD1 F8 F5
3
Show member pathways
12.04 SERPINE1 PLAT MTHFR F2
4
Show member pathways
11.97 THBD PROCR PROC PF4 F2
5 11.9 THBD SERPINE1 SERPINC1 PROCR PROC PLAT
6
Show member pathways
11.69 PROC F2 F10
7
Show member pathways
11.64 THBD SERPINE1 SERPINC1 PROCR PROC PLAT
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:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.03 TNXA SERPINE1 SERPINC1 PROCR PLOD1 PLAT
2 cell surface GO:0009986 9.85 THBD PROCR PLAT F3 APOH
3 endoplasmic reticulum lumen GO:0005788 9.8 SERPINC1 PROC F8 F5 F2 F10
4 extracellular region GO:0005576 9.8 SERPINE1 SERPINC1 PROCR PROC PLAT PF4
5 collagen-containing extracellular matrix GO:0062023 9.76 SERPINE1 SERPINC1 PLAT PF4 F3 F2
6 platelet alpha granule lumen GO:0031093 9.65 SERPINE1 PF4 F8 F5 F13A1
7 Golgi lumen GO:0005796 9.58 PROC F2 F10
8 extracellular space GO:0005615 9.47 THBD SERPINE1 SERPINC1 PROCR PROC PLAT
9 intrinsic component of external side of plasma membrane GO:0031233 9.37 F3 F10

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

(show all 17)
# 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 9.83 SERPINC1 PROC F5 F2
3 ER to Golgi vesicle-mediated transport GO:0006888 9.83 PROC F8 F5 F2 F10
4 platelet activation GO:0030168 9.73 PF4 F8 F2
5 platelet degranulation GO:0002576 9.73 SERPINE1 PF4 F8 F5 F13A1 APOH
6 fibrinolysis GO:0042730 9.65 SERPINE1 PLAT F2
7 hemostasis GO:0007599 9.65 THBD SERPINC1 PROCR PROC F8 F5
8 blood coagulation, intrinsic pathway GO:0007597 9.63 F8 F2 APOH
9 negative regulation of blood coagulation GO:0030195 9.62 THBD SERPINE1 PROC APOH
10 positive regulation of blood coagulation GO:0030194 9.58 SERPINE1 F2 APOH
11 plasminogen activation GO:0031639 9.55 PLAT APOH
12 negative regulation of platelet activation GO:0010544 9.54 THBD F2
13 regulation of blood coagulation GO:0030193 9.54 SERPINC1 F2 APOH
14 negative regulation of coagulation GO:0050819 9.51 PROCR PROC
15 blood coagulation, extrinsic pathway GO:0007598 9.49 F3 F10
16 negative regulation of fibrinolysis GO:0051918 9.46 THBD SERPINE1 F2 APOH
17 blood coagulation GO:0007596 9.4 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 calcium ion binding GO:0005509 9.8 THBD PROC HABP2 F2 F10
2 peptidase activity GO:0008233 9.65 PROC PLAT HABP2 F2 F10
3 phospholipid binding GO:0005543 9.54 F3 F10 APOH
4 protease binding GO:0002020 9.5 SERPINE1 SERPINC1 F3
5 heparin binding GO:0008201 9.46 SERPINC1 PF4 F2 APOH
6 serine-type peptidase activity GO:0008236 9.35 PROC PLAT HABP2 F2 F10
7 serine-type endopeptidase activity GO:0004252 9.1 PROC PLAT HABP2 F3 F2 F10

Sources for Thrombophilia Due to Thrombin Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HMDB
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33 ICD10 via Orphanet
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35 IUPHAR
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44 MESH via Orphanet
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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