THPH1
MCID: THR092
MIFTS: 70

Thrombophilia Due to Thrombin Defect (THPH1)

Categories: Blood diseases, Cardiovascular diseases, Genetic 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 58 76 13
Venous Thrombosis 58 76 30 56 6 74
Venous Thromboembolism 58 76 17 74 3
Thromboembolism 58 56 6 74
Venous Thromboembolism, Susceptibility to 58 6
Venous Thrombosis, Protection Against 58 6
Thrombophilia Due to Factor 2 Defect 58 76
Venous Thrombosis, Susceptibility to 30 6
Thph1 58 76
Thromboembolism, Susceptibility to 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood


HPO:

33
thrombophilia due to thrombin defect:
Onset and clinical course childhood onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Thrombophilia Due to Thrombin Defect

OMIM : 58 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 post-thrombotic syndrome. 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 Heparin and Dalteparin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are thromboembolism and pulmonary embolism

CDC : 3 Venous thromboembolism (VTE), also known as blood clots, is an underdiagnosed and serious, but preventable medical condition. It is important to know about VTE because it can happen to anybody at any age and cause serious illness, disability, and in some cases, death. The good news is that VTE can be prevented and treated if discovered early.

UniProtKB/Swiss-Prot : 76 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
Prothrombin-Related Thrombophilia

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

(show top 50) (show all 917)
# Related Disease Score Top Affiliating Genes
1 may-thurner syndrome 32.8 APOH F5
2 post-thrombotic syndrome 32.2 F2 F5 F8 SERPINC1 SERPINE1
3 protein s deficiency 32.1 SERPINC1 MTHFR F5 F3 F2 APOH
4 homocysteinemia 32.1 CBS F2 F5 MTHFR SERPINC1
5 portal vein thrombosis 32.0 SERPINE1 SERPINC1 MTHFR F5 F2 APOH
6 heparin-induced thrombocytopenia 30.7 F10 F3 SERPINC1
7 papilledema 30.4 APOH F2
8 thrombocytosis 30.4 F2 F3 SERPINC1
9 breast reconstruction 30.3 APOH F8
10 lemierre's syndrome 30.2 F3 MTHFR SERPINE1
11 antithrombin iii deficiency 30.2 SERPINC1 MTHFR F5 F2 F10 APOH
12 protein c deficiency 30.2 THBD SERPINC1 PROC MTHFR F5 F2
13 thrombasthenia 30.1 F2 F3 F5 MTHFR
14 homocystinuria 30.1 CBS F5 MTHFR SERPINC1
15 mesenteric vascular occlusion 30.1 F2 MTHFR
16 factor xii deficiency 30.1 APOH F3 F5 SERPINC1
17 intracranial embolism 30.0 F2 PLAT SERPINC1
18 sticky platelet syndrome 30.0 F5 SERPINC1 SERPINE1
19 budd-chiari syndrome 30.0 SERPINC1 MTHFR F5 F3 F2 APOH
20 osteonecrosis 30.0 F2 MTHFR SERPINC1 SERPINE1
21 intracranial hypertension 29.9 SERPINE1 SERPINC1 MTHFR F5 F3 F2
22 varicose veins 29.9 F2 F5 MTHFR SERPINC1 VWF
23 eclampsia 29.9 F2 MTHFR SERPINC1 THBD
24 behcet syndrome 29.9 APOH F5 SERPINC1 THBD
25 coronary artery anomaly 29.8 F2 F5 PLAT SERPINE1
26 hemophilia 29.8 F2 F3 F8 VWF
27 severe pre-eclampsia 29.8 APOH F5 SERPINC1
28 factor xi deficiency 29.8 F2 F3 SERPINC1 THBD
29 vasculitis 29.8 APOH THBD VWF
30 cerebral sinovenous thrombosis 29.8 APOH F2 F3 F5
31 patent foramen ovale 29.7 SERPINC1 PLAT MTHFR F5 F2 F13A1
32 infective endocarditis 29.7 APOH F2 SERPINE1
33 sagittal sinus thrombosis 29.7 F2 F3 F5 SERPINC1
34 endocarditis 29.7 APOH F2 PLAT SERPINC1
35 factor viii deficiency 29.7 F2 F5 F8 VWF
36 thrombophilia due to activated protein c resistance 29.7 VWF THBD SERPINE1 SERPINC1 PLAT MTHFR
37 buerger disease 29.7 APOH F2 MTHFR SERPINE1
38 retinal vascular occlusion 29.6 SERPINC1 MTHFR F5 F2 APOH
39 ischemic colitis 29.6 SERPINE1 SERPINC1 F5 F2 APOH
40 coronary heart disease 1 29.6 MTHFR PLAT SERPINE1
41 factor vii deficiency 29.6 F10 F2 F3 F8
42 spinal cord infarction 29.6 SERPINC1 MTHFR F5 F2 APOH
43 placenta disease 29.6 APOH F3 F5 MTHFR SERPINC1
44 venous insufficiency 29.5 F2 PLAT SERPINE1 VWF
45 thrombophlebitis 29.5 SERPINE1 SERPINC1 PLAT MTHFR F8 F5
46 sudden sensorineural hearing loss 29.5 APOH F2 F5 MTHFR
47 active peptic ulcer disease 29.5 F2 VWF
48 von willebrand's disease 29.5 F2 F3 F5 F8 VWF
49 retinal vein occlusion 29.5 SERPINE1 SERPINC1 MTHFR F5 F2 APOH
50 hemophilia b 29.4 F10 F2 F3 F8 SERPINC1

Comorbidity relations with Thrombophilia Due to Thrombin Defect via Phenotypic Disease Network (PDN): (show all 15)


Active Peptic Ulcer Disease Acute Cystitis
Chronic Myocardial Ischemia Decubitus Ulcer
Deficiency Anemia Familial Atrial Fibrillation
Femoral Vein Thrombophlebitis Heart Disease
Hypertension, Essential Hypothyroidism
Ischemic Heart Disease 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:

33
# Description HPO Frequency HPO Source Accession
1 thromboembolism 33 HP:0001907
2 pulmonary embolism 33 HP:0002204
3 deep venous thrombosis 33 HP:0002625
4 cerebral venous thrombosis 33 HP:0005305
5 recurrent thrombophlebitis 33 HP:0004419

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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 643)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 9005-49-6 772 46507594
2
Dalteparin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 9005-49-6
3
Enoxaparin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 9005-49-6 772
4
Nadroparin Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable
5
tannic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1401-55-4
6
Warfarin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 81-81-2 6691 54678486
7
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 94-09-7, 1994-09-7 2337
8
Atorvastatin Approved Phase 4,Phase 3,Phase 2,Not Applicable 134523-00-5 60823
9
Tranylcypromine Approved, Investigational Phase 4,Phase 3 155-09-9 441233
10
Rivaroxaban Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 366789-02-8
11
Tranexamic Acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1197-18-8 5526
12
Polyestradiol phosphate Approved Phase 4,Not Applicable 28014-46-2
13
Norethindrone Approved Phase 4 68-22-4 6230
14
Estradiol Approved, Investigational, Vet_approved Phase 4,Not Applicable 50-28-2 5757
15
Ferrous succinate Approved Phase 4 10030-90-7
16
Iron Approved, Experimental Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 7439-89-6, 15438-31-0 23925 27284
17
Methylcobalamin Approved, Experimental, Investigational Phase 4,Not Applicable 13422-55-4
18
leucovorin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-05-9 6006 143
19
Hydroxocobalamin Approved Phase 4,Not Applicable 13422-51-0 11953898 15589840
20
Phylloquinone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 84-80-0
21 fluindione Approved, Investigational Phase 4 957-56-2
22
Alprostadil Approved, Investigational Phase 4 745-65-3 149351 5280723
23
Clopidogrel Approved Phase 4,Phase 3 120202-66-6, 113665-84-2 60606
24
Aspirin Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 50-78-2 2244
25
Ranibizumab Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 347396-82-1 459903
26
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 216974-75-3
27
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1177-87-3
28
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-02-2 5743
29
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 124-94-7 31307
30
Apixaban Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 503612-47-3 10182969
31
Tinzaparin Approved Phase 4,Phase 3,Phase 2,Not Applicable 9041-08-1, 9005-49-6 25244225
32
Acenocoumarol Approved, Investigational Phase 4,Phase 3,Not Applicable 152-72-7 9052 54676537
33
Fondaparinux Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 104993-28-4
34
Lidocaine Approved, Vet_approved Phase 4,Phase 1,Not Applicable 137-58-6 3676
35
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 22916-47-8 4189
36
Hydroxyurea Approved Phase 4,Phase 3,Phase 2 127-07-1 3657
37
Ropivacaine Approved Phase 4,Phase 3,Not Applicable 84057-95-4 71273 175805
38
Thrombin Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable
39
Sodium Citrate Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 68-04-2
40
Racepinephrine Approved Phase 4,Phase 3,Phase 2,Not Applicable 329-65-7 838
41
Epinephrine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 51-43-4 5816
42
Dipyridamole Approved Phase 4,Phase 3 58-32-2 3108
43
Cisplatin Approved Phase 4,Phase 3,Phase 2 15663-27-1 441203 84093 2767
44 Ethiodized oil Approved, Investigational Phase 4,Not Applicable 8008-53-5
45
Polidocanol Approved Phase 4,Not Applicable 9002-92-0
46
Pancrelipase Approved, Investigational Phase 4,Phase 3 53608-75-6
47
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
48
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
49
Acetaminophen Approved Phase 4,Phase 3,Phase 2 103-90-2 1983
50
Conivaptan Approved, Investigational Phase 4 210101-16-9 151171

Interventional clinical trials:

(show top 50) (show all 1600)
# Name Status NCT ID Phase Drugs
1 Outcome of Percutaneous Mechanical Thrombectomy to Treat Acute Deep Venous Thrombosis Unknown status NCT02959801 Phase 4
2 Two Weeks of Low Molecular Weight Heparin for Distal Vein Thrombosis Unknown status NCT01252420 Phase 4 Enoxaparin
3 Residual Vein Thrombosis and the Optimal Duration of Low Molecular Weight Heparin in Cancer Patients With Deep Vein Thrombosis Unknown status NCT00450645 Phase 4 low molecular weight heparin
4 Rosuvastatin for Preventing Deep Vein Thrombosis Unknown status NCT01021488 Phase 4 Rosuvastatin 20mg/d for 14days;enoxaparin only
5 Safety and Efficacy Study of OmniWave Endovascular System to Treat Deep Vein Thrombosis Unknown status NCT00640731 Phase 4
6 The Effect of Anticoagulation in Cirrhotic Patients With Portal Vein Thrombosis:A Multicenter RCT Unknown status NCT02630095 Phase 4 Nadroparin Calcium and Warfarin
7 The Effect of Anticoagulation After Endoscopic Therapy in Cirrhotic Patients With Portal Vein Thrombosis Unknown status NCT02398357 Phase 4 Nadroparin Calcium and Warfarin
8 Re-STOP DVT: Reload of High Dose Atorvastatin for Preventing Deep Vein Thrombosis in Statin Users Unknown status NCT01063426 Phase 4 High dose Atorvastatin+enoxaparin;Enoxaparin
9 Comparison of Topical and Infusion Tranexamic Acid 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
10 Oral Verses Patch Trial In Menopausal Women - Individualisation of Oestrogen Therapy Unknown status NCT02264743 Phase 4 Femoston Conti;EVOREL® CONTI
11 anti10a Levels in Women Treated With LMWH in the Postpartum Period Unknown status NCT02856295 Phase 4 clexane (LMWH)
12 Erythropoietin in the Treatment of Anemia After Autologous Hematopoietic Stem Cell Transplantation Unknown status NCT03010579 Phase 4 erythropoietin;iron supplementation
13 Vascular CalcIfiCation and sTiffness Induced by ORal antIcoAgulation Unknown status NCT02161965 Phase 4 Rivaroxaban;Fluindione;Warfarin
14 Applying Pharmacogenetics to Warfarin Dosing in Chinese Patients Unknown status NCT01610141 Phase 4
15 Effect of Mosapride on Postoperative Ileus in Patients Undergoing Colorectal Surgery Unknown status NCT02056405 Phase 4 Mosapride;Placebo
16 Clinical and Economic Implications of Genetic Testing for Warfarin Management Unknown status NCT00964353 Phase 4 Warfarin
17 The Use of Prostaglandin E1 in Head and Neck Microsurgery Unknown status NCT00733434 Phase 4 Prostaglandin E1
18 A Study on the Safety of Tranexamic Acid for the Chronic Subdural Hematoma Population Unknown status NCT02618382 Phase 4 Tranexamic Acid
19 Pradaxa or Warfarin for Prevention of Recurrent VTE in Patients With Angiographically Confirmed Acute Massive Pulmonary Embolism undergoIng Endovascular Mechanical Fragmentation and Thrombolytic Therapy Unknown status NCT02979561 Phase 4 Dabigatran Etexilate;Warfarin
20 TRANexamic Acid to Reduce Bleeding in BURN Surgery Unknown status NCT03113253 Phase 4 Tranexamic Acid;Placebo
21 W-Shaped Acetabular Angular Plate (WAAP) Versus Reconstruction Plate Unknown status NCT02327949 Phase 4
22 Atrial Fibrillation and Ischemic Events With Rivaroxaban in Patients With Stable Coronary Artery Disease Study Unknown status NCT02642419 Phase 4 Rivaroxaban and single antiplatelet drug (aspirin, clopidogrel or prasugrel);Rivaroxaban
23 Retinal Sensitivity in BRVO After Anti-VEGF Therapy Unknown status NCT02527733 Phase 4 Ranibizumab;Ranibizumab and laser
24 Comparing Injection Frequency Between Aflibercept and Ranibizumab in Patients With CRVO With a Treat& Extend Regimen Unknown status NCT02274259 Phase 4 Aflibercept;Ranibizumab
25 Evaluation of the "Treat-and-extend" Scheme in Patients With Retinal Vein Occlusion (RVO) With and Without LASER Treatment of Ischaemic Retinal Areas Unknown status NCT02522897 Phase 4 Ranibizumab
26 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4 Aflibercept
27 Ozurdex Versus Ranibizumab Versus Combination for Central Retinal Vein Occlusion Unknown status NCT01827722 Phase 4 Ozurdex;Ranibizumab;Combination Ozurdex with Ranibizumab PRN
28 Treatment of Bevacizumab and Triamcinolone in Treatment or Macular Edema Secondary to CRVO Unknown status NCT00566761 Phase 4 bevacizumab and triamcinolone
29 Reinflation After Early Tourniquet Release in Total Knee Arthroplasty Unknown status NCT01832272 Phase 4
30 Tranexamic Acid in Knee Joint Surgery Unknown status NCT02278263 Phase 4 Tranexamic Acid;Normal saline (0.9% NaCl)
31 Tranexamic Acid in Intertrochanteric and Subtrochanteric Femur Fractures Unknown status NCT02580227 Phase 4 Tranexamic Acid
32 Apixaban as Treatment of Venous Thrombosis in Patients With Cancer: The CAP Study Completed NCT02581176 Phase 4 Apixaban
33 Absence of Residual Vein Thrombosis Permits to Withdrawn Oral Anticoagulants Completed NCT00623987 Phase 4 warfarin accordingly INR value
34 Residual Vein Thrombosis Establishes the Optimal Duration of Oral Anticoagulants Completed NCT00438230 Phase 4 Warfarin
35 Treatment of Upper Extremity Deep-Vein Thrombosis Completed NCT00245856 Phase 4 Dalteparin sodium injection;Warfarin
36 Cystic Fibrosis and Totally Implantable Vascular Access Devices Completed NCT00244270 Phase 4
37 Innohep® in Elderly Patients With Impaired Renal Function Treated for Acute Deep Vein Thrombosis Completed NCT00277394 Phase 4 innohep®;Heparin
38 Long-Term Low-Molecular-Weight Heparin Versus Oral Anticoagulants in Deep Venous Thrombosis Completed NCT00689520 Phase 4 tinzaparin;acenocoumarol
39 Trial of the Effect of Low-Molecular-Weight Heparin (LMWH) Versus Warfarin on Mortality in the Long-Term Treatment of Proximal Deep Vein Thrombosis (DVT) (Main LITE Study) Completed NCT00203580 Phase 4 Tinzaparin sodium
40 Warfarin Prevents Portal Vein Thrombosis in Patients After Laparoscopic Splenectomy and Azygoportal Disconnection Completed NCT02247414 Phase 4 Warfarin;Dipyridamole;Aspirin;Low Molecular Weight Heparin
41 Efficacy of Low Molecular Weight Heparin in Superficial Vein Thrombosis Completed NCT01245998 Phase 4 Dalteparin;Dalteparin
42 Echo-Doppler Assessment of the Occurrence of Asymptomatic DVT in Orthopedic Replacement Surgery Under Enoxaparin Completed NCT01354704 Phase 4 Enoxaparin
43 Assessment of Long-Term Out-of-Hospital Treatment of Patients With Proximal Deep Vein Thrombosis (DVT) Using Low-Molecular-Weight Heparin (LMWH) Versus LMWH Followed by Warfarin Completed NCT00203658 Phase 4 Tinzaparin sodium
44 Venous Thromboembolic Prophylaxis After Trauma: 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
45 3 Months' Versus 6 Months' Anticoagulation in Patients With DVT and/or PE Completed NCT00365950 Phase 4 Duration of anticoagulation;Warfarin duration
46 Study to Evaluate Weight-based Enoxaparin Dosing in Obese Medical Patients at Risk for DVT Completed NCT00585182 Phase 4 Enoxaparin 0.5 mg/kg once daily
47 Prophylaxis of Deep Vein Thrombosis Following Total Hip Arthroplasty Completed NCT02379663 Phase 4 Rivaroxaban;Enoxaparin
48 Study in Cancer Patients With Central Line Associated Clots in the Upper Extremity Treated With Rivaroxaban (Catheter 2) Completed NCT01708850 Phase 4 Rivaroxaban
49 Multimodal DVT Protocol in Tourniquet-less Total Knee Arthroplasty Completed NCT02102828 Phase 4 Aspirin only
50 The Effect of Vasopressors on the Anti Xa Response to Enoxaparin in Critically Ill Patients Completed NCT00351663 Phase 4 Enoxaparine

Search NIH Clinical Center for Thrombophilia Due to Thrombin Defect

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Thrombophilia Due to Thrombin Defect

Genetic tests related to Thrombophilia Due to Thrombin Defect:

# Genetic test Affiliating Genes
1 Venous Thrombosis 30 F13A1 F2 HABP2 MTHFR
2 Venous Thrombosis, Susceptibility to 30

Anatomical Context for Thrombophilia Due to Thrombin Defect

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

42
Brain, Testes, Eye, Kidney, Endothelial, Prostate, Bone

Publications for Thrombophilia Due to Thrombin Defect

Articles related to Thrombophilia Due to Thrombin Defect:

(show top 50) (show all 3807)
# Title Authors Year
1
Hypertrophic pachymeningitis and cerebral venous thrombosis in myeloperoxidase-ANCA associated vasculitis. ( 30635307 )
2019
2
Development of a dural arteriovenous fistula subsequent to cerebral venous thrombosis by venous hypertension. ( 30555948 )
2019
3
Postoperative Portomesenteric Venous Thrombosis After Colorectal Cancer Surgery. ( 30671797 )
2019
4
Cerebral Venous Thrombosis as Rare Presentation of Herpes Simplex Virus Encephalitis. ( 30800483 )
2019
5
Does a change in ventricular size predict a diagnosis of cerebral venous thrombosis-related acute intracranial hypertension? Results of a retrospective imaging study. ( 30638039 )
2019
6
Cerebral venous thrombosis as an initial manifestation of acute myeloid leukemia. ( 30697435 )
2019
7
A Child with Tuberculous Meningitis Complicated by Cortical Venous and Cerebral Sino-Venous Thrombosis. ( 30623313 )
2019
8
Multiple sclerosis and the risk of systemic venous thrombosis: A systematic review. ( 30642566 )
2019
9
Preoperative hematocrit on early prosthetic joint infection and deep venous thrombosis rates in primary total hip arthroplasty: A database study. ( 30705546 )
2019
10
Deep venous thrombosis and pulmonary embolism after anterior cruciate ligament reconstruction. ( 30601041 )
2019
11
Incidence and Risk Factors for Cannula-Related Venous Thrombosis After Venovenous Extracorporeal Membrane Oxygenation in Adult Patients With Acute Respiratory Failure. ( 30855325 )
2019
12
Predictors and outcome of status epilepticus in cerebral venous thrombosis. ( 30569383 )
2019
13
Minor allele of the factor V K858R variant protects from venous thrombosis only in non-carriers of factor V Leiden mutation. ( 30842582 )
2019
14
Pediatric deep venous thrombosis. ( 30853559 )
2019
15
PREVAPIX-ALL: Apixaban Compared to Standard of Care for Prevention of Venous Thrombosis in Paediatric Acute Lymphoblastic Leukaemia (ALL)-Rationale and Design. ( 30861550 )
2019
16
Whey protein concentrate limits venous thrombosis in rats. ( 30865836 )
2019
17
Analysis of risk factors for deep venous thrombosis in patients with gynecological malignant tumor: A clinical study. ( 30881422 )
2019
18
Four-extremity venous duplex ultrasound for suspected deep venous thrombosis is an anachronism. ( 30885630 )
2019
19
Diagnostic Accuracy and Financial Implications of Age-Adjusted D-Dimer Strategies for the Diagnosis of Deep Venous Thrombosis in the Emergency Department. ( 30890372 )
2019
20
Association of TFPI polymorphisms rs8176592, rs10931292, and rs10153820 with venous thrombosis: A meta-analysis. ( 30896671 )
2019
21
Mouse venous thrombosis upon silencing of anticoagulants depends on tissue factor and platelets, not FXII or neutrophils. ( 30898865 )
2019
22
The influence of rivaroxaban on markers of fibrinolysis and endothelial cell activation/injury in patients with venous thrombosis. ( 30903875 )
2019
23
Advances in understanding the molecular mechanisms of venous thrombosis. ( 30906986 )
2019
24
Comparison of Venous Thrombosis Complications in Midlines Versus Peripherally Inserted Central Catheters: Are Midlines the Safer Option? ( 30909723 )
2019
25
Deep venous thrombosis of lower limbs in adolescents: a study in a tertiary hospital. ( 30707683 )
2019
26
Assessment of deep venous thrombosis in the lower extremity in Behçet's syndrome: MR venography versus Doppler ultrasonography. ( 30712149 )
2019
27
Cerebral venous thrombosis following treatment with intravenous immunoglobulin. ( 30718000 )
2019
28
The Diagnostic Efficacy of Age-Adjusted D-Dimer Cutoff Value and Pretest Probability Scores for Deep Venous Thrombosis. ( 30754991 )
2019
29
Clinical implications of different risk factor profiles in patients with mesenteric venous thrombosis and systemic venous thromboembolism: a population-based study. ( 30756343 )
2019
30
The efficacy and safety of Angiojet rheolytic thrombectomy in the treatment of subacute deep venous thrombosis in lower extremity. ( 30769071 )
2019
31
Deep Venous Thrombosis with Decreased Cerebral Blood Flow to the Thalamus was Completely Restored by Factor Xa Inhibitor. ( 30772162 )
2019
32
Factor XI and recurrent venous thrombosis: an observational cohort study. ( 30784172 )
2019
33
Choosing a Mouse Model of Venous Thrombosis. ( 30786739 )
2019
34
Decreased retinal nerve fiber layer thickness in patients with cerebral venous thrombosis. ( 30786862 )
2019
35
Diagnosis of cerebral venous thrombosis: a single centre experience. ( 30796798 )
2019
36
Cerebral Venous Thrombosis due to Nontyphoidal Salmonella Bacteremia. ( 30799361 )
2019
37
Reexamining the Open-Vein Hypothesis for Acute Deep Venous Thrombosis. ( 30802168 )
2019
38
Guidance of venous stent implantation after CDT in patients with acute left lower extremity DVT based on pressure gradient differences between the iliac vein and inferior vena cava: a single-center retrospective study. ( 30802569 )
2019
39
The Need for a Vena Cava Filter In Oncological Patients with Acute Venous Thrombosis: A Marker of a Worse Prognosis. ( 30802572 )
2019
40
Hybrid Therapy Consisting of Bowel Resection and Fluoroscopic-Assisted Balloon Thrombectomy for Small Bowel Infarction Caused by Acute Mesenteric Venous Thrombosis. ( 30802573 )
2019
41
Inflammatory markers are beneficial in the early stages of cerebral venous thrombosis. ( 30810594 )
2019
42
Anti-Xa guided enoxaparin dose adjustment improves pharmacologic deep venous thrombosis prophylaxis in burn patients. ( 30827851 )
2019
43
Aspirin Alone Is Not Enough to Prevent Deep Venous Thrombosis After Total Joint Arthroplasty. ( 30602046 )
2019
44
A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family: A case report. ( 30608445 )
2019
45
Long-Term Clinical Outcomes of Complicated Retrievable Inferior Vena Cava Filter for Deep Venous Thrombosis Patients: Safety and Effectiveness. ( 30610777 )
2019
46
Cerebral Venous Thrombosis with Tumor-like Features: A Case Report and Review of the Literature. ( 30610975 )
2019
47
Low Rate of Intrahospital Deep Venous Thrombosis in Acutely Ill Medical Patients: Results From the AURELIO Study. ( 30611451 )
2019
48
Iliofemoral deep venous thrombosis in kidney transplant patients can cause graft dysfunction. ( 30619982 )
2019
49
Duplication of inferior vena cava and coagulation mutations with left-sided iliofemoral venous thrombosis. ( 30619987 )
2019
50
Postpartum Period Is a Risk Factor for Cerebral Venous Thrombosis. ( 30621526 )
2019

Variations for Thrombophilia Due to Thrombin Defect

ClinVar genetic disease variations for Thrombophilia Due to Thrombin Defect:

6 (show top 50) (show all 327)
# Gene Variation Type Significance SNP ID Assembly Location
1 MTHFR NM_005957.4(MTHFR): c.665C> T (p.Ala222Val) single nucleotide variant drug response rs1801133 GRCh37 Chromosome 1, 11856378: 11856378
2 MTHFR NM_005957.4(MTHFR): c.665C> T (p.Ala222Val) single nucleotide variant drug response rs1801133 GRCh38 Chromosome 1, 11796321: 11796321
3 SERPINA10 NM_001100607.2(SERPINA10): c.972G> A (p.Trp324Ter) single nucleotide variant Uncertain significance rs61754487 GRCh37 Chromosome 14, 94754643: 94754643
4 SERPINA10 NM_001100607.2(SERPINA10): c.972G> A (p.Trp324Ter) single nucleotide variant Uncertain significance rs61754487 GRCh38 Chromosome 14, 94288306: 94288306
5 HABP2 NM_004132.4(HABP2): c.1601G> A (p.Gly534Glu) single nucleotide variant Likely benign rs7080536 GRCh37 Chromosome 10, 115348046: 115348046
6 HABP2 NM_004132.4(HABP2): c.1601G> A (p.Gly534Glu) single nucleotide variant Likely benign rs7080536 GRCh38 Chromosome 10, 113588287: 113588287
7 F2 NM_000506.4(F2): c.*97G> A single nucleotide variant Pathogenic rs1799963 GRCh37 Chromosome 11, 46761055: 46761055
8 F2 NM_000506.4(F2): c.*97G> A single nucleotide variant Pathogenic rs1799963 GRCh38 Chromosome 11, 46739505: 46739505
9 FGA NM_000508.4(FGA): c.991A> G (p.Thr331Ala) single nucleotide variant Benign rs6050 GRCh37 Chromosome 4, 155507590: 155507590
10 FGA NM_000508.4(FGA): c.991A> G (p.Thr331Ala) single nucleotide variant Benign rs6050 GRCh38 Chromosome 4, 154586438: 154586438
11 F13B NM_001994.2(F13B): c.344G> A (p.Arg115His) single nucleotide variant Benign rs6003 GRCh37 Chromosome 1, 197031021: 197031021
12 F13B NM_001994.2(F13B): c.344G> A (p.Arg115His) single nucleotide variant Benign rs6003 GRCh38 Chromosome 1, 197061891: 197061891
13 F13A1 NM_000129.3(F13A1): c.103G> T (p.Val35Leu) single nucleotide variant protective rs5985 GRCh37 Chromosome 6, 6318795: 6318795
14 F13A1 NM_000129.3(F13A1): c.103G> T (p.Val35Leu) single nucleotide variant protective rs5985 GRCh38 Chromosome 6, 6318562: 6318562
15 F2 NM_000506.4(F2): c.1787G> T (p.Arg596Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs387907201 GRCh37 Chromosome 11, 46760876: 46760876
16 F2 NM_000506.4(F2): c.1787G> T (p.Arg596Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs387907201 GRCh38 Chromosome 11, 46739326: 46739326
17 F2 NM_000506.4(F2): c.*96C> T single nucleotide variant Uncertain significance rs72550707 GRCh38 Chromosome 11, 46739504: 46739504
18 F2 NM_000506.4(F2): c.*96C> T single nucleotide variant Uncertain significance rs72550707 GRCh37 Chromosome 11, 46761054: 46761054
19 F2 NM_000506.4(F2): c.1726-59G> A single nucleotide variant Uncertain significance rs3136516 GRCh38 Chromosome 11, 46739206: 46739206
20 F2 NM_000506.4(F2): c.1726-59G> A single nucleotide variant Uncertain significance rs3136516 GRCh37 Chromosome 11, 46760756: 46760756
21 F5 NM_000130.4(F5): c.6443T> C (p.Met2148Thr) single nucleotide variant Benign/Likely benign rs9332701 GRCh37 Chromosome 1, 169484767: 169484767
22 F5 NM_000130.4(F5): c.6443T> C (p.Met2148Thr) single nucleotide variant Benign/Likely benign rs9332701 GRCh38 Chromosome 1, 169515529: 169515529
23 F5 NM_000130.4(F5): c.5419+12A> G single nucleotide variant Benign/Likely benign rs6009 GRCh37 Chromosome 1, 169498834: 169498834
24 F5 NM_000130.4(F5): c.5419+12A> G single nucleotide variant Benign/Likely benign rs6009 GRCh38 Chromosome 1, 169529596: 169529596
25 F5 NM_000130.4(F5): c.4095C> T (p.Thr1365=) single nucleotide variant Benign/Likely benign rs9332607 GRCh38 Chromosome 1, 169540995: 169540995
26 F5 NM_000130.4(F5): c.4095C> T (p.Thr1365=) single nucleotide variant Benign/Likely benign rs9332607 GRCh37 Chromosome 1, 169510233: 169510233
27 F5 NM_000130.4(F5): c.3948C> T (p.Leu1316=) single nucleotide variant Benign/Likely benign rs9287090 GRCh37 Chromosome 1, 169510380: 169510380
28 F5 NM_000130.4(F5): c.3948C> T (p.Leu1316=) single nucleotide variant Benign/Likely benign rs9287090 GRCh38 Chromosome 1, 169541142: 169541142
29 F5 NM_000130.4(F5): c.3853C> A (p.Leu1285Ile) single nucleotide variant Benign/Likely benign rs1046712 GRCh37 Chromosome 1, 169510475: 169510475
30 F5 NM_000130.4(F5): c.3853C> A (p.Leu1285Ile) single nucleotide variant Benign/Likely benign rs1046712 GRCh38 Chromosome 1, 169541237: 169541237
31 F5 NM_000130.4(F5): c.3804T> C (p.Ser1268=) single nucleotide variant Benign/Likely benign rs1800594 GRCh37 Chromosome 1, 169510524: 169510524
32 F5 NM_000130.4(F5): c.3804T> C (p.Ser1268=) single nucleotide variant Benign/Likely benign rs1800594 GRCh38 Chromosome 1, 169541286: 169541286
33 F5 NM_000130.4(F5): c.2773A> G (p.Lys925Glu) single nucleotide variant Benign/Likely benign rs6032 GRCh37 Chromosome 1, 169511555: 169511555
34 F5 NM_000130.4(F5): c.2773A> G (p.Lys925Glu) single nucleotide variant Benign/Likely benign rs6032 GRCh38 Chromosome 1, 169542317: 169542317
35 F5 NM_000130.4(F5): c.2594A> G (p.His865Arg) single nucleotide variant Benign/Likely benign rs4525 GRCh37 Chromosome 1, 169511734: 169511734
36 F5 NM_000130.4(F5): c.2594A> G (p.His865Arg) single nucleotide variant Benign/Likely benign rs4525 GRCh38 Chromosome 1, 169542496: 169542496
37 F5 NM_000130.4(F5): c.2450A> C (p.Asn817Thr) single nucleotide variant Benign/Likely benign rs6018 GRCh37 Chromosome 1, 169511878: 169511878
38 F5 NM_000130.4(F5): c.2450A> C (p.Asn817Thr) single nucleotide variant Benign/Likely benign rs6018 GRCh38 Chromosome 1, 169542640: 169542640
39 F5 NM_000130.4(F5): c.2425C> T (p.Pro809Ser) single nucleotide variant Benign/Likely benign rs6031 GRCh37 Chromosome 1, 169511903: 169511903
40 F5 NM_000130.4(F5): c.2425C> T (p.Pro809Ser) single nucleotide variant Benign/Likely benign rs6031 GRCh38 Chromosome 1, 169542665: 169542665
41 F5 NM_000130.4(F5): c.2301A> G (p.Ser767=) single nucleotide variant Benign/Likely benign rs6021 GRCh37 Chromosome 1, 169512027: 169512027
42 F5 NM_000130.4(F5): c.2301A> G (p.Ser767=) single nucleotide variant Benign/Likely benign rs6021 GRCh38 Chromosome 1, 169542789: 169542789
43 F5 NM_000130.4(F5): c.2289A> G (p.Glu763=) single nucleotide variant Benign/Likely benign rs6024 GRCh37 Chromosome 1, 169512039: 169512039
44 F5 NM_000130.4(F5): c.2289A> G (p.Glu763=) single nucleotide variant Benign/Likely benign rs6024 GRCh38 Chromosome 1, 169542801: 169542801
45 F5 NM_000130.4(F5): c.2235T> C (p.Asn745=) single nucleotide variant Benign/Likely benign rs6017 GRCh38 Chromosome 1, 169542855: 169542855
46 F5 NM_000130.4(F5): c.2235T> C (p.Asn745=) single nucleotide variant Benign/Likely benign rs6017 GRCh37 Chromosome 1, 169512093: 169512093
47 F5 NM_000130.4(F5): c.2208C> T (p.Ile736=) single nucleotide variant Benign/Likely benign rs6016 GRCh37 Chromosome 1, 169512120: 169512120
48 F5 NM_000130.4(F5): c.2208C> T (p.Ile736=) single nucleotide variant Benign/Likely benign rs6016 GRCh38 Chromosome 1, 169542882: 169542882
49 F5 NM_000130.4(F5): c.1926C> A (p.Thr642=) single nucleotide variant Benign/Likely benign rs6037 GRCh37 Chromosome 1, 169513583: 169513583
50 F5 NM_000130.4(F5): c.1926C> A (p.Thr642=) single nucleotide variant Benign/Likely benign rs6037 GRCh38 Chromosome 1, 169544345: 169544345

Expression for Thrombophilia Due to Thrombin Defect