THPH1
MCID: THR092
MIFTS: 69

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 3 17 74
Thromboembolism 58 56 6 74
Venous Thrombosis, Susceptibility to 30 13 6
Venous Thromboembolism, Susceptibility to 58 6
Venous Thrombosis, Protection Against 58 6
Thrombophilia Due to Factor 2 Defect 58 76
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 antithrombin iii 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 Dalteparin and Heparin have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney 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 935)
# Related Disease Score Top Affiliating Genes
1 may-thurner syndrome 32.9 APOH F5
2 antithrombin iii deficiency 32.3 APOH F10 F2 F5 MTHFR SERPINC1
3 post-thrombotic syndrome 32.2 F2 F5 F8 SERPINC1 SERPINE1
4 homocysteinemia 32.2 CBS F2 F5 MTHFR SERPINC1
5 protein s deficiency 32.2 APOH F2 F3 F5 MTHFR SERPINC1
6 portal vein thrombosis 32.0 APOH F2 F5 MTHFR SERPINC1 SERPINE1
7 heparin-induced thrombocytopenia 30.7 F10 F3 SERPINC1
8 papilledema 30.4 APOH F2
9 thrombocytosis 30.4 F2 F3 SERPINC1
10 pregnancy loss, recurrent 1 30.3 APOH F5
11 breast reconstruction 30.3 APOH F8
12 intracranial embolism 30.3 F2 PLAT SERPINC1
13 lemierre's syndrome 30.3 F3 MTHFR SERPINE1
14 protein c deficiency 30.2 F2 F5 MTHFR PROC SERPINC1 THBD
15 thrombasthenia 30.1 F2 F3 F5 MTHFR
16 homocystinuria 30.1 CBS F5 MTHFR SERPINC1
17 mesenteric vascular occlusion 30.1 F2 MTHFR
18 budd-chiari syndrome 30.1 APOH F2 F3 F5 MTHFR SERPINC1
19 factor xii deficiency 30.1 APOH F3 F5 SERPINC1
20 sticky platelet syndrome 30.0 F5 SERPINC1 SERPINE1
21 behcet syndrome 30.0 APOH F5 SERPINC1 THBD
22 osteonecrosis 30.0 F2 MTHFR SERPINC1 SERPINE1
23 intracranial hypertension 30.0 APOH F2 F3 F5 MTHFR SERPINC1
24 eclampsia 29.9 F2 MTHFR SERPINC1 THBD
25 varicose veins 29.9 F2 F5 MTHFR SERPINC1 VWF
26 coronary artery anomaly 29.8 F2 F5 PLAT SERPINE1
27 hemophilia 29.8 F2 F3 F8 VWF
28 factor xi deficiency 29.8 F2 F3 SERPINC1 THBD
29 severe pre-eclampsia 29.8 APOH F5 SERPINC1
30 cerebral sinovenous thrombosis 29.8 APOH F2 F3 F5
31 vasculitis 29.8 APOH THBD VWF
32 factor viii deficiency 29.8 F2 F5 F8 VWF
33 infective endocarditis 29.8 APOH F2 SERPINE1
34 patent foramen ovale 29.8 APOH F13A1 F2 F5 MTHFR PLAT
35 sagittal sinus thrombosis 29.7 F2 F3 F5 SERPINC1
36 thrombophilia due to activated protein c resistance 29.7 APOH F10 F2 F3 F5 F8
37 endocarditis 29.7 APOH F2 PLAT SERPINC1
38 buerger disease 29.7 APOH F2 MTHFR SERPINE1
39 retinal vascular occlusion 29.7 APOH F2 F5 MTHFR SERPINC1
40 ischemic colitis 29.7 APOH F2 F5 SERPINC1 SERPINE1
41 coronary heart disease 1 29.6 MTHFR PLAT SERPINE1
42 factor vii deficiency 29.6 F10 F2 F3 F8
43 spinal cord infarction 29.6 APOH F2 F5 MTHFR SERPINC1
44 placenta disease 29.6 APOH F3 F5 MTHFR SERPINC1
45 venous insufficiency 29.6 F2 PLAT SERPINE1 VWF
46 thrombophlebitis 29.5 APOH F2 F5 F8 MTHFR PLAT
47 sudden sensorineural hearing loss 29.5 APOH F2 F5 MTHFR
48 active peptic ulcer disease 29.5 F2 VWF
49 von willebrand's disease 29.5 F2 F3 F5 F8 VWF
50 retinal vein occlusion 29.5 APOH F2 F5 MTHFR SERPINC1 SERPINE1

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 642)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dalteparin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 9005-49-6
2
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 9005-49-6 46507594 772
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
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1994-09-7, 94-09-7 2337
6
tannic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1401-55-4
7
Warfarin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 81-81-2 54678486 6691
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
Norethindrone Approved Phase 4 68-22-4 6230
13
Polyestradiol phosphate Approved Phase 4,Not Applicable 28014-46-2
14
Estradiol Approved, Investigational, Vet_approved Phase 4,Not Applicable 50-28-2 5757
15
Ferrous succinate Approved Phase 4 10030-90-7
16
Hydroxocobalamin Approved Phase 4,Not Applicable 13422-51-0 15589840 11953898
17
Methylcobalamin Approved, Experimental, Investigational Phase 4,Not Applicable 13422-55-4
18
Iron Approved, Experimental Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 7439-89-6, 15438-31-0 27284 23925
19
leucovorin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58-05-9 143 6006
20
Phylloquinone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 84-80-0
21 Menaquinone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1182-68-9
22 fluindione Approved, Investigational Phase 4 957-56-2
23
Alprostadil Approved, Investigational Phase 4 745-65-3 5280723 149351
24
Clopidogrel Approved Phase 4,Phase 3 120202-66-6, 113665-84-2 60606
25
Aspirin Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 50-78-2 2244
26
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
27
Cefuroxime Approved Phase 4 55268-75-2 5479529 5361202
28
Metronidazole Approved Phase 4 443-48-1 4173
29
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 216974-75-3
30
Ranibizumab Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 347396-82-1 459903
31
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-02-2 5743
32
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1177-87-3
33
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 124-94-7 31307
34
Apixaban Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 503612-47-3 10182969
35
Tinzaparin Approved Phase 4,Phase 3,Phase 2,Not Applicable 9041-08-1, 9005-49-6 25244225
36
Acenocoumarol Approved, Investigational Phase 4,Phase 3,Not Applicable 152-72-7 54676537 9052
37
Fondaparinux Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 104993-28-4
38
Lidocaine Approved, Vet_approved Phase 4,Phase 1,Not Applicable 137-58-6 3676
39
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 22916-47-8 4189
40
Hydroxyurea Approved Phase 4,Phase 3,Phase 2 127-07-1 3657
41
Ropivacaine Approved Phase 4,Phase 3,Not Applicable 84057-95-4 175805 71273
42
Thrombin Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable
43
Sodium Citrate Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 68-04-2
44
Racepinephrine Approved Phase 4,Phase 3,Phase 2,Not Applicable 329-65-7 838
45
Epinephrine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 51-43-4 5816
46
Dipyridamole Approved Phase 4,Phase 3 58-32-2 3108
47
Cisplatin Approved Phase 4,Phase 3,Phase 2 15663-27-1 2767 441203 84093
48 Ethiodized oil Approved, Investigational Phase 4,Not Applicable 8008-53-5
49
Polidocanol Approved Phase 4,Not Applicable 9002-92-0
50
Pancrelipase Approved, Investigational Phase 4,Phase 3 53608-75-6

Interventional clinical trials:

(show top 50) (show all 1624)
# 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 Tranexamic Acid to Reduce Blood Loss in Hemorrhagic Caesarean Delivery Unknown status NCT02797119 Phase 4 tranexamic acid 1 g (TA1);tranexamic acid 0.5 g (TA1/2);Saline Solution (TA0)
22 W-Shaped Acetabular Angular Plate (WAAP) Versus Reconstruction Plate Unknown status NCT02327949 Phase 4
23 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
24 Parenteral Antibiotics Compared to Combination of Oral and Parenteral Antibiotics in Colorectal Surgery Prophylaxis Unknown status NCT02505581 Phase 4 Extra dosage - cefuroxime (750mg) I.V;Cefuroxime 750mg oral;Metronidazole 250mg oral;Metronidazole 1,5gr Intravenous;Cefuroxime 1g Intravenous
25 Retinal Sensitivity in BRVO After Anti-VEGF Therapy Unknown status NCT02527733 Phase 4 Ranibizumab;Ranibizumab and laser
26 Comparing Injection Frequency Between Aflibercept and Ranibizumab in Patients With CRVO With a Treat& Extend Regimen Unknown status NCT02274259 Phase 4 Aflibercept;Ranibizumab
27 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
28 Study of Intravitreal Aflibercept Injection for Persistent CRVO-associated Macular Edema Despite Prior Anti-VEGF Therapy Unknown status NCT01857544 Phase 4 Aflibercept
29 Ozurdex Versus Ranibizumab Versus Combination for Central Retinal Vein Occlusion Unknown status NCT01827722 Phase 4 Ozurdex;Ranibizumab;Combination Ozurdex with Ranibizumab PRN
30 Treatment of Bevacizumab and Triamcinolone in Treatment or Macular Edema Secondary to CRVO Unknown status NCT00566761 Phase 4 bevacizumab and triamcinolone
31 Reinflation After Early Tourniquet Release in Total Knee Arthroplasty Unknown status NCT01832272 Phase 4
32 Tranexamic Acid in Knee Joint Surgery Unknown status NCT02278263 Phase 4 Tranexamic Acid;Normal saline (0.9% NaCl)
33 Tranexamic Acid in Intertrochanteric and Subtrochanteric Femur Fractures Unknown status NCT02580227 Phase 4 Tranexamic Acid
34 Apixaban as Treatment of Venous Thrombosis in Patients With Cancer: The CAP Study Completed NCT02581176 Phase 4 Apixaban
35 Absence of Residual Vein Thrombosis Permits to Withdrawn Oral Anticoagulants Completed NCT00623987 Phase 4 warfarin accordingly INR value
36 Residual Vein Thrombosis Establishes the Optimal Duration of Oral Anticoagulants Completed NCT00438230 Phase 4 Warfarin
37 Treatment of Upper Extremity Deep-Vein Thrombosis Completed NCT00245856 Phase 4 Dalteparin sodium injection;Warfarin
38 Cystic Fibrosis and Totally Implantable Vascular Access Devices Completed NCT00244270 Phase 4
39 Innohep® in Elderly Patients With Impaired Renal Function Treated for Acute Deep Vein Thrombosis Completed NCT00277394 Phase 4 innohep®;Heparin
40 Long-Term Low-Molecular-Weight Heparin Versus Oral Anticoagulants in Deep Venous Thrombosis Completed NCT00689520 Phase 4 tinzaparin;acenocoumarol
41 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
42 Warfarin Prevents Portal Vein Thrombosis in Patients After Laparoscopic Splenectomy and Azygoportal Disconnection Completed NCT02247414 Phase 4 Warfarin;Dipyridamole;Aspirin;Low Molecular Weight Heparin
43 Efficacy of Low Molecular Weight Heparin in Superficial Vein Thrombosis Completed NCT01245998 Phase 4 Dalteparin;Dalteparin
44 Echo-Doppler Assessment of the Occurrence of Asymptomatic DVT in Orthopedic Replacement Surgery Under Enoxaparin Completed NCT01354704 Phase 4 Enoxaparin
45 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
46 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
47 3 Months' Versus 6 Months' Anticoagulation in Patients With DVT and/or PE Completed NCT00365950 Phase 4 Duration of anticoagulation;Warfarin duration
48 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
49 Prophylaxis of Deep Vein Thrombosis Following Total Hip Arthroplasty Completed NCT02379663 Phase 4 Rivaroxaban;Enoxaparin
50 Study in Cancer Patients With Central Line Associated Clots in the Upper Extremity Treated With Rivaroxaban (Catheter 2) Completed NCT01708850 Phase 4 Rivaroxaban

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, Kidney, Eye, Testes, Endothelial, Spinal Cord, Thyroid

Publications for Thrombophilia Due to Thrombin Defect

Articles related to Thrombophilia Due to Thrombin Defect:

(show top 50) (show all 3901)
# 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
Acute compartment syndrome complicating deep venous thrombosis. ( 30973863 )
2019
5
Asymptomatic catheter-related venous thrombosis in a child with cystic fibrosis: When to treat? ( 30954197 )
2019
6
Cerebral Venous Thrombosis as Rare Presentation of Herpes Simplex Virus Encephalitis. ( 30800483 )
2019
7
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
8
Cerebral venous thrombosis as an initial manifestation of acute myeloid leukemia. ( 30697435 )
2019
9
Cerebral Sinus Venous Thrombosis in the Setting of Acute Mastoiditis. ( 31007981 )
2019
10
Stent implantation for May-Thurner syndrome with acute deep venous thrombosis: acute and long-term results from the ATOMIC (AcTive stenting for May-Thurner Iliac Compression syndrome) registry. ( 29948590 )
2019
11
A Child with Tuberculous Meningitis Complicated by Cortical Venous and Cerebral Sino-Venous Thrombosis. ( 30623313 )
2019
12
Multiple sclerosis and the risk of systemic venous thrombosis: A systematic review. ( 30642566 )
2019
13
Cerebral Venous Thrombosis: An Uncommon Cause of Papilledema on Bedside Ocular Ultrasound. ( 30538085 )
2019
14
Recurrent venous thrombosis during direct oral anticoagulant therapy in a patient with protein S deficiency. ( 31064935 )
2019
15
Incidence and Risk Factors for Cannula-Related Venous Thrombosis After Venovenous Extracorporeal Membrane Oxygenation in Adult Patients With Acute Respiratory Failure. ( 30855325 )
2019
16
Brush Sign Is Associated With Increased Severity in Cerebral Venous Thrombosis. ( 31035899 )
2019
17
Efficacy of Catheter-directed Thrombolysis on Post-burn Deep Venous Thrombosis of Lower Extremity. ( 31036116 )
2019
18
Isolated cortical venous thrombosis after fetal demise. ( 31036738 )
2019
19
Portomesenteric Venous Thrombosis Post-Laparoscopic Sleeve Gastrectomy: Do Energy Systems Pose as Instigating Factor to This Infrequent Complication? ( 31040733 )
2019
20
An audit of cerebral venous thrombosis associated with pregnancy and puerperium in teaching hospital in North Eastern India. ( 31041250 )
2019
21
Neutrophils and neutrophil extracellular traps enhance venous thrombosis in mice bearing human pancreatic tumors. ( 31048354 )
2019
22
Comparison of Venous Thrombosis Complications in Midlines Versus Peripherally Inserted Central Catheters: Are Midlines the Safer Option? ( 30909723 )
2019
23
Choosing a mouse model of venous thrombosis: a consensus assessment of utility and application. ( 30927321 )
2019
24
Deep Venous Thrombosis and a Very Rare Finding: Inferior Vena Cava Infra-renal Segment Agenesis. ( 30931281 )
2019
25
Implementation and Validation of the 2013 Caprini Score for Risk Stratification of Arthroplasty Patients in the Prevention of Venous Thrombosis. ( 30939898 )
2019
26
Initial experience with a new pharmacomechanical thrombectomy device for deep venous thrombosis: Report of 91 cases. ( 30939998 )
2019
27
Endovascular Thrombolysis or Thrombectomy for Cerebral Venous Thrombosis: Study of Nationwide Inpatient Sample 2004-2014. ( 30952531 )
2019
28
Determination of Optimal Weight-Based Enoxaparin Dosing and Associated Clinical Factors for Achieving Therapeutic Anti-Xa Assays for Deep Venous Thrombosis Prophylaxis. ( 30954541 )
2019
29
The Dysprothrombinemias due to Arg596 Mutations: A Conundrum With No Bleeding Tendency and Venous Thrombosis due to Antithrombin Resistance. ( 30968704 )
2019
30
Diagnosis of cerebral venous thrombosis: a single centre experience. ( 30796798 )
2019
31
Cerebral Venous Thrombosis due to Nontyphoidal Salmonella Bacteremia. ( 30799361 )
2019
32
Reexamining the Open-Vein Hypothesis for Acute Deep Venous Thrombosis. ( 30802168 )
2019
33
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
34
The Need for a Vena Cava Filter In Oncological Patients with Acute Venous Thrombosis: A Marker of a Worse Prognosis. ( 30802572 )
2019
35
Hybrid Therapy Consisting of Bowel Resection and Fluoroscopic-Assisted Balloon Thrombectomy for Small Bowel Infarction Caused by Acute Mesenteric Venous Thrombosis. ( 30802573 )
2019
36
Minor allele of the factor V K858R variant protects from venous thrombosis only in non-carriers of factor V Leiden mutation. ( 30842582 )
2019
37
Pediatric deep venous thrombosis. ( 30853559 )
2019
38
PREVAPIX-ALL: Apixaban Compared to Standard of Care for Prevention of Venous Thrombosis in Paediatric Acute Lymphoblastic Leukaemia (ALL)-Rationale and Design. ( 30861550 )
2019
39
Whey protein concentrate limits venous thrombosis in rats. ( 30865836 )
2019
40
Deep venous thrombosis of lower limbs in adolescents: a study in a tertiary hospital. ( 30707683 )
2019
41
Assessment of deep venous thrombosis in the lower extremity in Behçet's syndrome: MR venography versus Doppler ultrasonography. ( 30712149 )
2019
42
Cerebral venous thrombosis following treatment with intravenous immunoglobulin. ( 30718000 )
2019
43
The Diagnostic Efficacy of Age-Adjusted D-Dimer Cutoff Value and Pretest Probability Scores for Deep Venous Thrombosis. ( 30754991 )
2019
44
Clinical implications of different risk factor profiles in patients with mesenteric venous thrombosis and systemic venous thromboembolism: a population-based study. ( 30756343 )
2019
45
Use of Micronized Purified Flavonoid Fraction Together with Rivaroxaban Improves Clinical and Ultrasound Outcomes in Femoropopliteal Venous Thrombosis: Results of a Pilot Clinical Trial. ( 30539384 )
2019
46
Establishing portal inflow with diffuse splanchnic venous thrombosis and previous liver transplantation in a patient with JAK 2 mutation. ( 30592569 )
2019
47
Circulating platelet-neutrophil aggregates as risk factor for deep venous thrombosis. ( 30471216 )
2019
48
Glucose levels and diabetes are not associated with the risk of venous thrombosis: results from the MEGA case-control study. ( 30478992 )
2019
49
Mesenteric venous thrombosis presenting as gastrointestinal bleeding, a challenging diagnosis. ( 30503276 )
2019
50
Relationship between genetic polymorphism of MTHFR C677T and lower extremities deep venous thrombosis. ( 30303041 )
2019

Variations for Thrombophilia Due to Thrombin Defect

ClinVar genetic disease variations for Thrombophilia Due to Thrombin Defect:

6 (show top 50) (show all 329)
# 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 MTHFR NM_005957.4(MTHFR): c.1556G> T (p.Arg519Leu) single nucleotide variant Uncertain significance rs45449298 GRCh37 Chromosome 1, 11852411: 11852411
22 MTHFR NM_005957.4(MTHFR): c.1556G> T (p.Arg519Leu) single nucleotide variant Uncertain significance rs45449298 GRCh38 Chromosome 1, 11792354: 11792354
23 F5 NM_000130.4(F5): c.6443T> C (p.Met2148Thr) single nucleotide variant Benign/Likely benign rs9332701 GRCh37 Chromosome 1, 169484767: 169484767
24 F5 NM_000130.4(F5): c.6443T> C (p.Met2148Thr) single nucleotide variant Benign/Likely benign rs9332701 GRCh38 Chromosome 1, 169515529: 169515529
25 F5 NM_000130.4(F5): c.5419+12A> G single nucleotide variant Benign/Likely benign rs6009 GRCh37 Chromosome 1, 169498834: 169498834
26 F5 NM_000130.4(F5): c.5419+12A> G single nucleotide variant Benign/Likely benign rs6009 GRCh38 Chromosome 1, 169529596: 169529596
27 F5 NM_000130.4(F5): c.4095C> T (p.Thr1365=) single nucleotide variant Benign/Likely benign rs9332607 GRCh38 Chromosome 1, 169540995: 169540995
28 F5 NM_000130.4(F5): c.4095C> T (p.Thr1365=) single nucleotide variant Benign/Likely benign rs9332607 GRCh37 Chromosome 1, 169510233: 169510233
29 F5 NM_000130.4(F5): c.3948C> T (p.Leu1316=) single nucleotide variant Benign/Likely benign rs9287090 GRCh37 Chromosome 1, 169510380: 169510380
30 F5 NM_000130.4(F5): c.3948C> T (p.Leu1316=) single nucleotide variant Benign/Likely benign rs9287090 GRCh38 Chromosome 1, 169541142: 169541142
31 F5 NM_000130.4(F5): c.3853C> A (p.Leu1285Ile) single nucleotide variant Benign/Likely benign rs1046712 GRCh37 Chromosome 1, 169510475: 169510475
32 F5 NM_000130.4(F5): c.3853C> A (p.Leu1285Ile) single nucleotide variant Benign/Likely benign rs1046712 GRCh38 Chromosome 1, 169541237: 169541237
33 F5 NM_000130.4(F5): c.3804T> C (p.Ser1268=) single nucleotide variant Benign/Likely benign rs1800594 GRCh37 Chromosome 1, 169510524: 169510524
34 F5 NM_000130.4(F5): c.3804T> C (p.Ser1268=) single nucleotide variant Benign/Likely benign rs1800594 GRCh38 Chromosome 1, 169541286: 169541286
35 F5 NM_000130.4(F5): c.2773A> G (p.Lys925Glu) single nucleotide variant Benign/Likely benign rs6032 GRCh37 Chromosome 1, 169511555: 169511555
36 F5 NM_000130.4(F5): c.2773A> G (p.Lys925Glu) single nucleotide variant Benign/Likely benign rs6032 GRCh38 Chromosome 1, 169542317: 169542317
37 F5 NM_000130.4(F5): c.2594A> G (p.His865Arg) single nucleotide variant Benign/Likely benign rs4525 GRCh37 Chromosome 1, 169511734: 169511734
38 F5 NM_000130.4(F5): c.2594A> G (p.His865Arg) single nucleotide variant Benign/Likely benign rs4525 GRCh38 Chromosome 1, 169542496: 169542496
39 F5 NM_000130.4(F5): c.2450A> C (p.Asn817Thr) single nucleotide variant Benign/Likely benign rs6018 GRCh37 Chromosome 1, 169511878: 169511878
40 F5 NM_000130.4(F5): c.2450A> C (p.Asn817Thr) single nucleotide variant Benign/Likely benign rs6018 GRCh38 Chromosome 1, 169542640: 169542640
41 F5 NM_000130.4(F5): c.2425C> T (p.Pro809Ser) single nucleotide variant Benign/Likely benign rs6031 GRCh37 Chromosome 1, 169511903: 169511903
42 F5 NM_000130.4(F5): c.2425C> T (p.Pro809Ser) single nucleotide variant Benign/Likely benign rs6031 GRCh38 Chromosome 1, 169542665: 169542665
43 F5 NM_000130.4(F5): c.2301A> G (p.Ser767=) single nucleotide variant Benign/Likely benign rs6021 GRCh37 Chromosome 1, 169512027: 169512027
44 F5 NM_000130.4(F5): c.2301A> G (p.Ser767=) single nucleotide variant Benign/Likely benign rs6021 GRCh38 Chromosome 1, 169542789: 169542789
45 F5 NM_000130.4(F5): c.2289A> G (p.Glu763=) single nucleotide variant Benign/Likely benign rs6024 GRCh37 Chromosome 1, 169512039: 169512039
46 F5 NM_000130.4(F5): c.2289A> G (p.Glu763=) single nucleotide variant Benign/Likely benign rs6024 GRCh38 Chromosome 1, 169542801: 169542801
47 F5 NM_000130.4(F5): c.2235T> C (p.Asn745=) single nucleotide variant Benign/Likely benign rs6017 GRCh38 Chromosome 1, 169542855: 169542855
48 F5 NM_000130.4(F5): c.2235T> C (p.Asn745=) single nucleotide variant Benign/Likely benign rs6017 GRCh37 Chromosome 1, 169512093: 169512093
49 F5 NM_000130.4(F5): c.2208C> T (p.Ile736=) single nucleotide variant Benign/Likely benign rs6016 GRCh37 Chromosome 1, 169512120: 169512120
50 F5 NM_000130.4(F5): c.2208C> T (p.Ile736=) single nucleotide variant Benign/Likely benign rs6016 GRCh38 Chromosome 1, 169542882: 169542882

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 APOH F10 F13A1 F2 F3 F5
2
Show member pathways
12.68 F10 F13A1 F2 F3 F5 F8
3
Show member pathways
12.1 CBS F2 MTHFR PLAT SERPINE1
4
Show member pathways
11.96 F2 PROC PROCR THBD
5 11.91 F10 F13A1 F2 F3 F5 F8
6
Show member pathways
11.7 F10 F2 PROC
7 11.65 F3 SERPINE1 THBD
8
Show member pathways
11.64 F10 F13A1 F2 F3 F5 F8
9 10.67 F10 F2 PROC
10 10.57 PLAT SERPINE1
11 10.34 CBS MTHFR

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 cell surface GO:0009986 9.88 APOH F3 PLAT PROCR THBD
2 endoplasmic reticulum lumen GO:0005788 9.8 F10 F2 F5 F8 PROC SERPINC1
3 extracellular region GO:0005576 9.8 APOH F10 F13A1 F2 F3 F5
4 collagen-containing extracellular matrix GO:0062023 9.7 APOH F13A1 F3 PLAT SERPINC1 SERPINE1
5 platelet alpha granule lumen GO:0031093 9.65 F13A1 F5 F8 SERPINE1