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MCID: THR015
MIFTS: 51

Thrombophilia

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Thrombophilia

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MalaCards integrated aliases for Thrombophilia:

Name: Thrombophilia 12 54 15 39 17 71
Hypercoagulability State 12

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Blood diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:2452
NCIt 49 C84479
SNOMED-CT 67 234467004
ICD10 32 D68.5 D68.59
UMLS 71 C0398623
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Summaries for Thrombophilia

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MalaCards based summary : Thrombophilia, also known as hypercoagulability state, is related to prothrombin-related thrombophilia and antithrombin iii deficiency. An important gene associated with Thrombophilia is F5 (Coagulation Factor V), and among its related pathways/superpathways are Collagen chain trimerization and Response to elevated platelet cytosolic Ca2+. The drugs Tranexamic Acid and Tranylcypromine have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and endothelial, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 Thrombophilia (sometimes called hypercoagulability or a prothrombotic state) is an abnormality of blood... more...

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Related Diseases for Thrombophilia

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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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 592)
# Related Disease Score Top Affiliating Genes
1 prothrombin-related thrombophilia 35.1 MTHFR HABP2 F2
2 antithrombin iii deficiency 33.7 SERPIND1 SERPINC1 MTHFR JAK2 F5 F3
3 thrombophilia due to activated protein c resistance 33.7 VWF THBD SERPINE1 SERPINC1 MTHFR F9
4 thrombophilia due to thrombin defect 33.5 THBD SERPINE1 SERPINC1 PROCR PROC MTHFR
5 protein c deficiency 33.0 THBD SERPINE1 SERPINC1 PROCR PROC MTHFR
6 livedoid vasculitis 32.8 SERPINE1 SERPINC1 MTHFR F2 APOH
7 factor v deficiency 32.5 VWF F9 F8 F5 F3 F2
8 budd-chiari syndrome 32.5 SERPINC1 MTHFR JAK2 F5 F3 F2
9 protein s deficiency 32.1 THBD SERPINE1 SERPINC1 PROS1 PROC MTHFR
10 antiphospholipid syndrome 32.1 VWF THBD SERPINE1 SERPINC1 PROCR MTHFR
11 placenta disease 31.6 SERPINC1 MTHFR F5 F3 F2 APOH
12 severe pre-eclampsia 31.5 SERPINE1 SERPINC1 F5 APOH
13 placental abruption 31.5 THBD SERPINC1 PROC MTHFR F5 F2
14 osteonecrosis 31.4 SERPINE1 SERPINC1 MTHFR F2
15 eclampsia 31.4 THBD SERPINE1 SERPINC1 MTHFR F2 APOH
16 sticky platelet syndrome 31.2 SERPINE1 SERPINC1 F5
17 heparin-induced thrombocytopenia 31.2 SERPINC1 F3
18 homocysteinemia 31.2 VWF THBD SERPINE1 SERPINC1 MTHFR F5
19 amaurosis fugax 31.2 SERPINE1 MTHFR F5
20 neonatal stroke 31.1 SERPINE1 PROC MTHFR
21 legg-calve-perthes disease 31.0 THBD SERPINE1 SERPINC1 F5 APOH
22 homocystinuria 31.0 THBD SERPINC1 MTHFR F8 F5
23 pre-eclampsia 31.0 VWF THBD SERPINE1 SERPINC1 MTHFR F8
24 branch retinal artery occlusion 31.0 SERPINC1 MTHFR F2
25 retinal vein occlusion 30.9 SERPINE1 SERPINC1 MTHFR F5 F3 F2
26 hemoglobinuria 30.9 THBD SERPINC1 F2
27 paroxysmal nocturnal hemoglobinuria 30.9 THBD SERPINC1 F2
28 dysfibrinogenemia, congenital 30.8 THBD SERPIND1 SERPINC1 FGG F5 F2
29 catastrophic antiphospholipid syndrome 30.8 SERPINE1 PROC MTHFR F5 F3 APOH
30 portal vein thrombosis 30.8 SERPINE1 SERPINC1 PROC MTHFR JAK2 F5
31 post-thrombotic syndrome 30.8 SERPINE1 SERPINC1 F8 F5 F3 F2
32 varicose veins 30.8 VWF THBD SERPINC1 MTHFR F5 F2
33 cerebral palsy 30.8 SERPINE1 SERPINC1 PROC MTHFR F5 F2
34 esophageal varix 30.7 SERPINC1 F3 F2
35 blood coagulation disease 30.7 VWF THBD SERPINE1 SERPINC1 MTHFR JAK2
36 polycythemia vera 30.7 VWF THBD JAK2 F5 F2
37 atrial fibrillation 30.7 VWF SERPINC1 F3 F2
38 hemophilia a 30.7 VWF F9 F8 F3
39 acute myocardial infarction 30.7 VWF THBD SERPINE1 SERPINC1 F3
40 portal hypertension 30.7 VWF JAK2 F3 F2
41 retinal vascular occlusion 30.7 SERPINC1 MTHFR F5 F2 APOH
42 mitral valve stenosis 30.7 VWF SERPINC1 F3 F2
43 central retinal artery occlusion 30.7 SERPINC1 MTHFR F2
44 buerger disease 30.7 SERPINE1 MTHFR F2 APOH
45 thoracic outlet syndrome 30.6 SERPINC1 F2
46 thrombocytosis 30.6 VWF SERPINC1 JAK2 F3 F2
47 atherosclerosis susceptibility 30.6 VWF THBD SERPINE1 MTHFR F3
48 hemolytic-uremic syndrome 30.6 VWF THBD SERPINC1 F3 F2
49 placental insufficiency 30.6 VWF SERPINE1 SERPINC1 F3 F2
50 spinal cord infarction 30.6 SERPINC1 MTHFR F5 F2 APOH

Graphical network of the top 20 diseases related to Thrombophilia:



Diseases related to Thrombophilia
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Symptoms & Phenotypes for Thrombophilia

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GenomeRNAi Phenotypes related to Thrombophilia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 9.4 JAK2
2 Decreased viability GR00249-S 9.4 F5 FGG SERPINE1
3 Decreased viability GR00381-A-1 9.4 PROCR
4 Decreased viability GR00381-A-3 9.4 PROCR
5 Decreased viability GR00386-A-1 9.4 F8 MTHFR PROS1
6 Decreased viability GR00402-S-2 9.4 F11 FGG HRG

MGI Mouse Phenotypes related to Thrombophilia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 F11 F2 F3 F5 F9 FGG
2 homeostasis/metabolism MP:0005376 10.3 APOH F11 F2 F3 F5 F8
3 hematopoietic system MP:0005397 10.24 F11 F2 F3 F8 F9 FGG
4 embryo MP:0005380 10.1 F2 F3 F5 F9 FGG JAK2
5 immune system MP:0005387 10.1 F11 F2 F3 F8 F9 FGG
6 mortality/aging MP:0010768 9.93 APOH F11 F2 F3 F5 F8
7 liver/biliary system MP:0005370 9.9 F11 F5 F9 HABP2 JAK2 MTHFR
8 respiratory system MP:0005388 9.23 F11 F2 F3 FGG JAK2 PROC
Sources

Drugs & Therapeutics for Thrombophilia

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Drugs for Thrombophilia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 163)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4 1197-18-8 5526
2
Tranylcypromine Approved, Investigational Phase 4 155-09-9 441233
3
Thrombin Approved, Investigational Phase 4
4
Tinzaparin Approved Phase 4 9041-08-1, 9005-49-6 25244225
5
Dalteparin Approved Phase 4 9005-49-6
6
Warfarin Approved Phase 4 81-81-2 6691 54678486
7
Phylloquinone Approved, Investigational Phase 4 84-80-0
8
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 27284 23925
9
Acenocoumarol Approved, Investigational Phase 4 152-72-7 9052 54676537
10 Bemiparin Approved, Investigational Phase 4 91449-79-5
11
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
12
Ticagrelor Approved Phase 4 274693-27-5 9871419
13
Enoxaparin Approved Phase 4 9005-49-6 772
14
Apixaban Approved Phase 4 503612-47-3 10182969
15
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
16
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
17
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
18
Coumarin Experimental Phase 4 91-64-5 323
19 Menaquinone Investigational Phase 4 1182-68-9
20
Sarpogrelate Investigational Phase 4 125926-17-2 5160
21
Gestodene Investigational Phase 4 60282-87-3 3033968
22 Hemostatics Phase 4
23 Coagulants Phase 4
24 Antifibrinolytic Agents Phase 4
25 Fibrin Tissue Adhesive Phase 4
26 Anti-Anxiety Agents Phase 4
27 Psychotropic Drugs Phase 4
28 Antidepressive Agents Phase 4
29 Monoamine Oxidase Inhibitors Phase 4
30 Heparin, Low-Molecular-Weight Phase 4
31 Fibrin fragment D Phase 4
32 Vitamins Phase 4
33 Micronutrients Phase 4
34 Nutrients Phase 4
35 Trace Elements Phase 4
36 Vitamin K Phase 4
37 naphthoquinone Phase 4
38 Iron Supplement Phase 4
39 Lactoferrin Phase 4
40 Platelet Aggregation Inhibitors Phase 4
41 Neurotransmitter Agents Phase 4
42 Purinergic P2Y Receptor Antagonists Phase 4
43 Fibrinolytic Agents Phase 4
44 Anticoagulants Phase 4
45 Antithrombins Phase 4
46 Antithrombin III Phase 4
47 Serine Proteinase Inhibitors Phase 4
48
protease inhibitors Phase 4
49 Factor Xa Inhibitors Phase 4
50 HIV Protease Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 167)
# Name Status NCT ID Phase Drugs
1 Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine Unknown status NCT02986594 Phase 4 Aspirin;Heparin
2 Low Molecular Weight Heparin in Prevention of Recurrent Arteriovenous Graft Thrombosis in Chronic Hemodialysis Patients. Unknown status NCT01970280 Phase 4 Enoxaparin
3 Reducing Blood Loss During Total Knee Arthroplasty Using Tisseel: A Prospective Randomized Control Trial Unknown status NCT03310060 Phase 4 Tisseel;Tranexamic Acid
4 Safety and Efficacy of Low-dose Ticagrelor in Chinese Patients With Stable Coronary Artery Disease: a Randomized, Single-blind, Crossover Clinical Trial Unknown status NCT02514642 Phase 4 low-dose ticagrelor;Clopidogrel
5 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
6 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
7 Implantation Failure and PGD Completed NCT00547781 Phase 4
8 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)
9 the Effect of Unfractionated Heparin in Treatment of IVF-ET Failure Completed NCT01214772 Phase 4 heparin
10 Phase IV Study of Oral Administration of Bovine Lactoferrin (bLf) to Prevent and Cure Iron Deficiency (ID) and Iron Deficiency Anemia (IDA) Until Delivery in Hereditary Thrombophilia (HT) Affected Pregnant Women Completed NCT01221844 Phase 4 FerroGrad by Abbott
11 Randomized Controlled Trial to Compare Treatment With Oral Anticoagulation With Antagonists of vitaminK vs Low Molecular Weight Heparin(Bemiparin) in Patients With Anticoagulation Criteria and an Episode of Gastrointestinal Bleeding. Completed NCT01727453 Phase 4 warfarin;Bemiparina
12 Low-dose of Ticagrelor and Standard-dose Clopidogrel on Platelet Effects in Chinese Patients With Stable Coronary Artery Disease: a Randomized, Single-blind, Crossover Clinical Study Recruiting NCT03679091 Phase 4 low-dose ticagrelor;Clopidogrel
13 A Randomized, Dose-controlled, Open-label, Parallel, 2-treatment Group, Single Center, Pilot Study to Evaluate the Effectiveness of Sarpogrelate on Blood Hyperviscosity in the Patients With Peripheral Arterial Disease Active, not recruiting NCT03509922 Phase 4 Anplag Tab. 100mg bid;Anplag Tab. 100mg tid
14 anti10a Levels in Women Treated With LMWH in the Postpartum Period for Preventing Vein Thrombosis Events: A Comparison of Two Doses Not yet recruiting NCT02856295 Phase 4 clexane (LMWH)
15 Effect of Low-Molecular-Weight-Heparin (LMWH) on Pregnancy Outcome in Women With Multiple Failures of IVF-ET Not yet recruiting NCT03701750 Phase 4 Low Molecular Weight Heparin (enoxaparin sodium)
16 Randomized Controlled Trial of Extended-Duration Low-Dose Apixaban to Prevent Recurrence in High-Risk Patients With Provoked Venous Thromboembolism Not yet recruiting NCT04168203 Phase 4 Apixaban 2.5 MG;Placebo oral tablet
17 Comparison of Coagulation Profiles in Oral Contraceptive Pills Users Between 1.5 mg Estradiol/2.5 mg Nomegestrol Acetate (Zoely) and 15 mcg Ethinylestradiol/60 mcg Gestodene (Minidoz): A Randomized Control Trial Terminated NCT03531437 Phase 4 1.5 mg estradiol and 2.5 mg nomegestrol acetate;15 µg ethinylestradiol and 60 µg gestodene
18 Response of Recombinant Antithrombin in Heparin Resistant Patients Undergoing Cardiac Surgery Terminated NCT01547728 Phase 4 Recombinant antithrombin (rhAT)
19 A Randomised Clinical Trial Comparing Standard Cannula Delivered Foam Sclerotherapy, Catheter Directed Foam Sclerotherapy and ClariVein® Mechanochemical Ablation in the Management of Superficial Venous Insufficiency. Withdrawn NCT02010437 Phase 4 Sodium Tetradecyl Sulphate (STS)
20 Low Molecular Weight Heparin for Pregnant Women With Thrombophilia: a Prospective, Randomized, Open Trial Unknown status NCT01019655 Phase 3 Nadroparin calcium
21 ThrombElastoGraphic Haemostatic Status and Antiplatelet Therapy After Coronary Artery Bypass Graft Surgery(TEG-CABG Trial):Does Intensified Postoperative Antiplatelet Therapy in Preoperatively Identified Hypercoagulable Patients Improve Outcome After CABG Surgery Unknown status NCT01046942 Phase 3 Clopidogrel+acetylsalicylic acid;acetylsalicylic acid
22 Safety and Efficacy of a D-Dimer-Guided Strategy for Extension of Secondary Prophylaxis of Venous Thromboembolism - a Prospective and Randomized Management Trial Unknown status NCT00895505 Phase 3 Phenprocoumon;Warfarin-Natrium
23 Safety and Efficacy of Low-Dose Ticagrelor in Chinese Patients With Non-ST-Elevation Acute Coronary Syndrome: A Randomized Clinical Trial Unknown status NCT02415803 Phase 3 low-dose ticagrelor;conventional-dose ticagrelor;Clopidogrel
24 Effects of Different Doses of Ticagrelor and Standard-dose Clopidogrel on Platelet Aggregation and Endothelial Function in Diabetic Patients With Stable Coronary Artery Disease Unknown status NCT02889549 Phase 2, Phase 3 ticagrelor;clopidogrel
25 Role of LMWH (Enoxaparine) With or Without Aspirin in the Prevention of Habitual Abortion; Special Attention to the Thrombophilic Status of the Mother Completed NCT00959621 Phase 3 Aspirin;Klexane;Klexane and ASA
26 Phase III Study Analyzing the Effectiveness of Dalteparin Therapy as Intervention in Recurrent Pregnancy Loss Completed NCT00400387 Phase 3 Fragmin P Forte (dalteparin sodium)
27 Enoxaparin for the Prevention of Placental‐Mediated Complications of Pregnancy in Women With Obstetric History or Abnormal Uterine Artery Doppler at First Trimester Ultrasound and Without Thrombophilia: a Multicenter Randomized Controlled Trial Completed NCT01388322 Phase 3 Enoxaparin
28 Multicentric Randomized Study of Xarelto Versus no Treatment for the Prevention of Recurrent Thrombosis in Patients With Chronic Portal Vein Thrombosis. Completed NCT02555111 Phase 3 Xarelto
29 TIPPS - Thrombophilia in Pregnancy Prophylaxis Study: A Multicentre, Multinational, Randomized Control Trial of Prophylaxis Low Molecular Weight Heparin (LMWH) in High-risk Thrombophilic Women. Completed NCT00967382 Phase 3 dalteparin sodium
30 Low Molecular Weight Heparin, Enoxaparin, to Prevent Adverse Maternal and Perinatal Outcomes in Women With Previous Severe Preeclampsia at Less Than 34 Weeks' Gestation. A Prospective Randomized Trial Completed NCT00986765 Phase 3 Lovenox® (enoxaparin);Aspegic ® (Aspirin)
31 Prévention Des Fausses Couches Spontanées Répétées Par Hydroxychloroquine. Essai thérapeutique Multicentrique, randomisé, en Double Insu, Contre Placebo Recruiting NCT03165136 Phase 3 Hydroxychloroquine;Placebo
32 A Randomized Double-Blinded Placebo-Controlled Trial of Esomeprazole for the Prevention of Preeclampsia in Moderate- and High-Risk Women: The ESOPOP Trial Recruiting NCT03717740 Phase 3 Esomeprazole;Placebo
33 Prospective Multi-Center Evaluation of the Duration of Therapy for Thrombosis in Children Active, not recruiting NCT00687882 Phase 3
34 Essai thérapeutique randomisé Multicentrique en Double Insu, Comparant l'énoxaparine 40mg Versus Placebo, en Une Injection Sous-cutanée Quotidienne, Dans Les Fausses Couches spontanées récurrentes inexpliquées Terminated NCT00740545 Phase 3 enoxaparine 40 mg daily;placebo
35 The Effect of Adjunctive Use of Vaginal Progesterone After Cerclage on Prevention of 2nd Trimester Miscarriage Completed NCT02846909 Phase 2 Progesterone
36 Low-Dose Aspirin in the Postpartum Period and Endothelial Function in Patients With Preeclampsia Recruiting NCT03667326 Phase 2 Aspirin;Placebo oral capsule
37 Regulatory T-cell Induction by Low-dose Interleukin-2 in Women With Unexplained Repeated Spontaneous Early Miscarriages Not yet recruiting NCT03970954 Phase 1, Phase 2 low-dose IL-2
38 Effect of Rosuvastatin on Sever Preeclampsia Induced Inflammatory Response Not yet recruiting NCT04303806 Phase 2 rosuvastatin
39 Use of Estriol at Distal Third of the Vaginal Wall Relieving Coital Pain in Women After Menopause: a Randomized, Blinded and Controlled Trial Unknown status NCT03116022 Phase 1 Estriol;Distal estriol;Vaginal Gel
40 Presence of Minor Anti Phospholipid Antibodies in Blood Samples of Ischemic Stroke Patients and Healthy Controls. Unknown status NCT01487746
41 Arterial Microcirculation, Macrocirculation and Thrombophilias Unknown status NCT01160159
42 Pulmonary Embolism After Liver Resection: A Prospective Analysis of Risk Factors Unknown status NCT01486511
43 Shanghai First Maternity and Infant Hospital Unknown status NCT02990390
44 The Effect of Reduced Dose of Enoxaparin on the Laboratory and Clinical Outcomes of Treatment With Enoxaparin Unknown status NCT00354796
45 Hypercoagulable Parameters as Predictors of Thrombotic Events and Prognosis in Patients With Advanced Non-Small Cell Lung Carcinoma Unknown status NCT00192829
46 Correlation Between Vitamin D Levels to ADAMTS13 , VWF and Micro RNA Expression in Diabetic Hemodialysis Patients Unknown status NCT02245633
47 A Retrospective Analysis of Possible Association Between Severe Pregnancy Complications and Elevated Factor VIII Plasma Activity. Unknown status NCT00573118
48 Observational Prospectif Monocentric Registry of Patients Suffering From VIE Unknown status NCT02188056
49 Hypercoagulability and Thromboembolic Risk in Patients With Malignant Disease, Evaluated by Thrombelastograph (TEG®) Unknown status NCT00400504
50 Prospective Registry to Evaluate the Effective Incidence of Chronic Thromboembolic Pulmonary Hypertension in Germany Unknown status NCT02660463

Search NIH Clinical Center for Thrombophilia

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Genetic Tests for Thrombophilia

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Anatomical Context for Thrombophilia

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MalaCards organs/tissues related to Thrombophilia:

40
Testes, Liver, Endothelial, Placenta, Heart, Kidney, Lung
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Publications for Thrombophilia

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Articles related to Thrombophilia:

(show top 50) (show all 5866)
# Title Authors PMID Year
1
High-density lipoprotein inversely relates to its specific autoantibody favoring oxidation in thrombotic primary antiphospholipid syndrome. 54 61
20064910 2010
2
Venous thrombosis and procoagulant factors in high-risk neuroblastoma. 54 61
20118812 2010
3
[Is venous thrombembolism during pregnancy an indication for routine assay of antithrombin activity and antithrombin supplementation?]. 54 61
20232702 2010
4
Anti-prothrombin antibodies are associated with thrombosis in children. 54 61
19303627 2010
5
Livedoid vasculiltis associated with a double heterozygous Factor V Leiden and prothrombin G20210A gene mutations. 61 54
19793098 2009
6
Risk factors for thrombophilia in young adults presenting with thrombosis. 61 54
19937485 2009
7
The prevalence of methylenetetrahydrofolate reductase 677 C-T, factor V 1691 G-A, and prothrombin 20210 G-A mutations in healthy populations in Setif, Algeria. 61 54
18840629 2009
8
Venous thromboembolism in young female while on oral contraceptives: high frequency of inherited thrombophilia and analysis of thrombotic events in 400 czech women. 54 61
19117968 2009
9
Prevalence of thrombophilias in patients presenting for bariatric surgery. 54 61
19579050 2009
10
Premature coronary artery disease in young (age <45) subjects: interactions of lipid profile, thrombophilic and haemostatic markers. 54 61
18625524 2009
11
Unusual presentation of a sarcoid patient: multiple arterial and venous thrombosis with chest lymphadenopathy. 54 61
18792762 2009
12
Cerebral venous sinus thrombosis as presenting feature of ulcerative colitis. 61 54
19902870 2009
13
Multiplex amplicon genotyping by high-resolution melting. 54 61
19568454 2009
14
[Expression of annexin V in decidua tissues of preeclampsia patients]. 54 61
19620076 2009
15
Molecular pathophysiology of thrombotic states and their impact to laboratory diagnostics. 54 61
19365521 2009
16
Association of inherited thrombophilia with embryonic and postembryonic recurrent pregnancy loss. 54 61
19786941 2009
17
Placental histomorphology in unexplained foetal loss with thrombophilia. 61 54
19293440 2009
18
Ocular vascular thrombotic events: a diagnostic window to familial thrombophilia (compound factor V Leiden and prothrombin gene heterozygosity) and thrombosis. 61 54
18796459 2009
19
Inherited thrombophilia and preeclampsia within a multicenter cohort: the Montreal Preeclampsia Study. 54 61
19070828 2009
20
Amaurosis fugax caused by hereditary thrombophilia due to mutation of gene. 61 54
19507653 2009
21
Factor v Leiden and antiphospholipid antibodies in either mothers or infants increase the risk for perinatal arterial ischemic stroke. 61 54
18927445 2009
22
Maternal thrombophilia and the risk of recurrence of preeclampsia. 54 61
18845284 2009
23
Is there an overlap between sudden neurosensorial hearing loss and cardiovascular risk factors? 61 54
19005247 2009
24
Thrombophilia and pulmonary endarterectomy. 54 61
19591378 2009
25
Regulation of plasminogen activator inhibitor type 1 gene expression by inflammatory mediators and statins. 54 61
19132219 2008
26
Etiology of hypercoagulable state in women with recurrent fetal loss without other causes of miscarriage from Southern Italy: new clinical target for antithrombotic therapy. 61 54
19707467 2008
27
[Oral anticoagulat treatment in venous thromboembolic disease]. 54 61
19087853 2008
28
[Pre-eclampsia screening in first and second trimester]. 61 54
18979429 2008
29
Comparison of thrombophilic gene mutations among patients experiencing recurrent miscarriage and deep vein thrombosis. 61 54
18803625 2008
30
Tissue factor in the antiphospholipid syndrome. 61 54
18827061 2008
31
Portal and mesenteric vein thromboses in a patient with prothrombin G20210 mutation, elevated lipoprotein (a), and high factor VIII. 54 61
18160613 2008
32
Hereditary and acquired thrombophilia in patients with upper extremity deep-vein thrombosis. Results from the MAISTHRO registry. 54 61
18766260 2008
33
Thrombophilic dimension of recurrent fetal loss in Indian patients. 54 61
18685442 2008
34
Venous thromboembolism in live kidney donors--a prospective study. 61 54
18791446 2008
35
Severe arterial thrombophilia associated with a homozygous MTHFR gene mutation (A1298C) in a young man with Klinefelter syndrome. 54 61
18160591 2008
36
Ocular vascular thrombotic events: central retinal vein and central retinal artery occlusions. 61 54
18160589 2008
37
Arteriovenous thrombosis in chronic renal failure patients receiving renal replacement therapy. 61 54
18760065 2008
38
[Enzymatic (plasmin) blood system in patients with acute virus myocarditis and its medical correction]. 54 61
19253736 2008
39
Prevalence of factor V Leiden (G1691A) and prothrombin (G20210A) among Kurdish population from Western Iran. 61 54
17700999 2008
40
[Rare thrombophilic states]. 61 54
18394759 2008
41
Thrombosis of sinus sagitalis during puerperium caused by thrombophilic gene mutation. 54 61
17574520 2008
42
Should patients with venous thromboembolism be screened for thrombophilia? 54 61
18501222 2008
43
[Therapeutic consequences of thrombophilic testing]. 61 54
18395945 2008
44
Venous thromboembolism during pregnancy. 61 54
18619081 2008
45
[Coagulative hemostasis in patients with acute viral myocarditis]. 61 54
19145820 2008
46
Antithrombotic prophylaxis during pregnancy in women with deficiency of natural anticoagulants. 54 61
18388503 2008
47
Hepatitis C virus presumably associated bilateral consecutive anterior ischemic optic neuropathy. 54 61
18320531 2008
48
Low birthweight in relation to placental abruption and maternal thrombophilia status. 61 54
18191809 2008
49
Thrombophilia differences in cerebral venous sinus and lower extremity deep venous thrombosis. 54 61
18285537 2008
50
[Cardiovascular aspects of antiphospholipid syndrome]. 54 61
19048829 2008
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Variations for Thrombophilia

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Copy number variations for Thrombophilia from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 151514 20 22300000 25600000 Loss THBD Thrombophilia
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Expression for Thrombophilia

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Search GEO for disease gene expression data for Thrombophilia.
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Pathways for Thrombophilia

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Pathways related to Thrombophilia according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Collagen chain trimerization 65
Show member pathways
 12.72 THBD SERPINC1 PROS1 PROC FGG F9
2
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 12.65 VWF THBD SERPINE1 SERPIND1 SERPINC1 PROS1
3
Formation of Fibrin Clot (Clotting Cascade) 65
Show member pathways
 12.23 VWF THBD SERPINE1 SERPIND1 SERPINC1 PROS1
4
Cell surface interactions at the vascular wall 65
Show member pathways
 12.02 THBD PROS1 PROCR PROC F2
5
Complement and coagulation cascades 36 1
11.99 VWF THBD SERPINE1 SERPIND1 SERPINC1 PROS1
6
Gamma carboxylation, hypusine formation and arylsulfatase activation 65
Show member pathways
 11.77 PROS1 PROC F9 F2
7
AGE-RAGE signaling pathway in diabetic complications 36
11.71 THBD SERPINE1 JAK2 F3
8
Integrin alphaIIb beta3 signaling 65
Show member pathways
 11.66 VWF FGG F2
9
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
11.34 VWF FGG F2
10
Warfarin Pathway, Pharmacodynamics 60
10.8 PROS1 PROC F9 F2
11
Dissolution of Fibrin Clot 65
10.59 SERPINE1 HRG
Sources

GO Terms for Thrombophilia

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Cellular components related to Thrombophilia according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.32 THBD SERPINE1 SERPINC1 PROS1 PROCR JAK2
2 extracellular exosome GO:0070062 10.15 VWF SERPINE1 SERPIND1 SERPINC1 PROS1 PROCR
3 cell surface GO:0009986 9.97 THBD PROCR HRG FGG F3 APOH
4 endoplasmic reticulum lumen GO:0005788 9.92 SERPIND1 SERPINC1 PROC FGG F9 F8
5 collagen-containing extracellular matrix GO:0062023 9.91 VWF SERPINE1 SERPINC1 HRG FGG F9
6 extracellular region GO:0005576 9.89 VWF SERPINE1 SERPIND1 SERPINC1 PROS1 PROCR
7 blood microparticle GO:0072562 9.8 SERPINC1 PROS1 HRG FGG F2
8 Golgi lumen GO:0005796 9.76 PROS1 PROC F9 F2
9 platelet alpha granule lumen GO:0031093 9.7 VWF SERPINE1 PROS1 HRG FGG F8
10 platelet alpha granule GO:0031091 9.61 VWF FGG F5
11 extracellular space GO:0005615 9.53 THBD SERPINE1 SERPIND1 SERPINC1 PROS1 PROCR

Biological processes related to Thrombophilia according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.95 SERPIND1 SERPINC1 PROC FGG F5
2 cellular protein metabolic process GO:0044267 9.95 SERPIND1 SERPINC1 PROC FGG F5 F2
3 ER to Golgi vesicle-mediated transport GO:0006888 9.93 PROS1 PROC F9 F8 F5 F2
4 negative regulation of endopeptidase activity GO:0010951 9.92 SERPINE1 SERPIND1 SERPINC1 PROS1 HRG
5 platelet activation GO:0030168 9.89 VWF HRG FGG F8 F2
6 platelet degranulation GO:0002576 9.86 VWF SERPINE1 PROS1 HRG FGG F8
7 fibrinolysis GO:0042730 9.83 SERPINE1 PROS1 HRG FGG F2
8 hemostasis GO:0007599 9.83 VWF THBD SERPIND1 SERPINC1 PROS1 PROCR
9 negative regulation of blood coagulation GO:0030195 9.8 THBD SERPINE1 PROS1 PROC APOH
10 regulation of blood coagulation GO:0030193 9.77 SERPINC1 HRG F2 F11 APOH
11 negative regulation of fibrinolysis GO:0051918 9.72 THBD SERPINE1 HRG F2 APOH
12 positive regulation of blood coagulation GO:0030194 9.71 SERPINE1 F2 APOH
13 plasminogen activation GO:0031639 9.69 FGG F11 APOH
14 blood coagulation, intrinsic pathway GO:0007597 9.63 VWF F9 F8 F2 F11 APOH
15 negative regulation of cell adhesion mediated by integrin GO:0033629 9.58 SERPINE1 HRG
16 cytolysis by host of symbiont cells GO:0051838 9.58 HRG F2
17 negative regulation of platelet activation GO:0010544 9.57 THBD F2
18 negative regulation of coagulation GO:0050819 9.56 PROCR PROC
19 blood coagulation GO:0007596 9.55 VWF THBD SERPIND1 SERPINC1 PROS1 PROCR

Molecular functions related to Thrombophilia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.93 THBD PROS1 PROC HABP2 F9 F2
2 peptidase activity GO:0008233 9.88 PROC HABP2 F9 F2 F11
3 signaling receptor binding GO:0005102 9.83 SERPINE1 JAK2 HRG FGG F2
4 protease binding GO:0002020 9.62 VWF SERPINE1 SERPINC1 F3
5 endopeptidase inhibitor activity GO:0004866 9.58 SERPIND1 PROS1 HRG
6 serine-type endopeptidase inhibitor activity GO:0004867 9.56 SERPINE1 SERPIND1 SERPINC1 HRG
7 serine-type peptidase activity GO:0008236 9.55 PROC HABP2 F9 F2 F11
8 serine-type endopeptidase activity GO:0004252 9.43 PROC HABP2 F9 F3 F2 F11
9 immunoglobulin binding GO:0019865 9.37 VWF HRG
10 heparin binding GO:0008201 9.1 SERPIND1 SERPINC1 HRG F2 F11 APOH
Sources

Sources for Thrombophilia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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