MCID: THR015
MIFTS: 51

Thrombophilia

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Thrombophilia

MalaCards integrated aliases for Thrombophilia:

Name: Thrombophilia 12 54 43 15 39 17 71
Hypercoagulability State 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2452
MeSH 43 D019851
NCIt 49 C84479
SNOMED-CT 67 76612001
ICD10 32 D68.5 D68.59
UMLS 71 C0398623

Summaries for Thrombophilia

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 homeostasis/metabolism and cardiovascular system

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

Related Diseases for Thrombophilia

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 585)
# Related Disease Score Top Affiliating Genes
1 prothrombin-related thrombophilia 35.1 MTHFR HABP2 F2
2 antithrombin iii deficiency 33.7 SERPINC1 PF4 MTHFR JAK2 F5 F2
3 thrombophilia due to activated protein c resistance 33.2 VWF THBD SERPINE1 SERPINC1 PF4 MTHFR
4 thrombophilia due to thrombin defect 33.0 THBD SERPINE1 SERPINC1 PROCR PROC PF4
5 protein c deficiency 32.9 THBD SERPINE1 SERPINC1 PROCR PROC MTHFR
6 livedoid vasculitis 32.9 SERPINE1 SERPINC1 MTHFR F2
7 budd-chiari syndrome 32.4 SERPINC1 MTHFR JAK2 F5 F3 F2
8 factor v deficiency 32.4 VWF F9 F8 F5 F3 F2
9 thrombocytosis 32.2 VWF SERPINC1 PF4 JAK2 F3 F2
10 protein s deficiency 32.0 THBD SERPINE1 SERPINC1 PROS1 PROC MTHFR
11 antiphospholipid syndrome 31.6 VWF THBD SERPINE1 SERPINC1 PROCR PF4
12 eclampsia 31.6 THBD SERPINE1 SERPINC1 MTHFR F2
13 severe pre-eclampsia 31.5 SERPINE1 SERPINC1 F5 APOH
14 placenta disease 31.5 SERPINC1 MTHFR F5 F3 F2 APOH
15 placental abruption 31.4 THBD SERPINC1 PROC MTHFR F5 F2
16 osteonecrosis 31.4 SERPINE1 SERPINC1 MTHFR F2
17 sticky platelet syndrome 31.2 SERPINE1 SERPINC1 F5
18 homocystinuria 31.2 THBD SERPINC1 MTHFR F5
19 amaurosis fugax 31.1 SERPINE1 MTHFR F5
20 homocysteinemia 31.1 VWF THBD SERPINE1 SERPINC1 MTHFR F5
21 neonatal stroke 31.1 SERPINE1 PROC MTHFR
22 cerebral palsy 31.0 PROC MTHFR F5 F2
23 dysfibrinogenemia, congenital 31.0 THBD SERPIND1 SERPINC1 F5 F2
24 heparin-induced thrombocytopenia 31.0 SERPINC1 PF4 F3
25 pre-eclampsia 30.8 VWF THBD SERPINE1 SERPINC1 MTHFR F8
26 legg-calve-perthes disease 30.8 THBD SERPINE1 SERPINC1 MTHFR F5 APOH
27 retinal vein occlusion 30.8 SERPINE1 SERPINC1 MTHFR F5 F3 F2
28 branch retinal artery occlusion 30.8 SERPINC1 MTHFR F3 F2
29 hemoglobinuria 30.8 THBD SERPINC1 F2
30 paroxysmal nocturnal hemoglobinuria 30.8 THBD SERPINC1 F2
31 catastrophic antiphospholipid syndrome 30.8 SERPINE1 PROC MTHFR F5 F3 APOH
32 post-thrombotic syndrome 30.7 SERPINE1 SERPINC1 F8 F5 F3 F2
33 varicose veins 30.7 VWF THBD SERPINC1 MTHFR F5 F2
34 esophageal varix 30.7 SERPINC1 F3 F2
35 portal vein thrombosis 30.7 SERPINE1 SERPINC1 PROC MTHFR JAK2 F5
36 nonarteritic anterior ischemic optic neuropathy 30.7 SERPINC1 MTHFR F5 F2
37 hemolytic-uremic syndrome 30.7 VWF THBD F3 F2
38 retinal vascular occlusion 30.7 SERPINC1 MTHFR F5 F2 APOH
39 buerger disease 30.6 SERPINE1 MTHFR F2 APOH
40 lemierre's syndrome 30.6 MTHFR F3 F2
41 coronary thrombosis 30.6 VWF SERPINE1 SERPINC1 F3
42 hemophilia a 30.6 VWF F9 F8 F3
43 thoracic outlet syndrome 30.6 SERPINC1 F2
44 spinal cord infarction 30.6 SERPINC1 MTHFR F5 F2 APOH
45 atherosclerosis susceptibility 30.6 VWF THBD SERPINE1 MTHFR F3
46 atrial heart septal defect 30.6 SERPINC1 MTHFR F3 F2
47 placental insufficiency 30.6 VWF SERPINE1 SERPINC1 F3 F2
48 fibrinolytic defect 30.5 SERPINE1 SERPINC1
49 portal hypertension 30.5 VWF SERPINE1 JAK2 F3 F2
50 limb ischemia 30.5 VWF THBD SERPINE1 F2

Graphical network of the top 20 diseases related to Thrombophilia:



Diseases related to Thrombophilia

Symptoms & Phenotypes for Thrombophilia

MGI Mouse Phenotypes related to Thrombophilia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.3 APOH F11 F2 F3 F5 F8
2 cardiovascular system MP:0005385 10.28 F11 F2 F3 F5 F9 JAK2
3 hematopoietic system MP:0005397 10.24 F11 F2 F3 F8 F9 JAK2
4 immune system MP:0005387 10.07 F11 F2 F3 F8 F9 HABP2
5 embryo MP:0005380 10.06 F2 F3 F5 F9 JAK2 PROCR
6 mortality/aging MP:0010768 9.91 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 9.17 F11 F2 F3 JAK2 PROC SERPINE1

Drugs & Therapeutics for Thrombophilia

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

(show top 50) (show all 153)
# 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
Phylloquinone Approved, Investigational Phase 4 84-80-0
5
Warfarin Approved Phase 4 81-81-2 6691 54678486
6
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
7 Bemiparin Approved, Investigational Phase 4 91449-79-5
8
Acenocoumarol Approved, Investigational Phase 4 152-72-7 9052 54676537
9
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
10
Ticagrelor Approved Phase 4 274693-27-5 9871419
11
Dalteparin Approved Phase 4 9005-49-6
12
Enoxaparin Approved Phase 4 9005-49-6 772
13
Apixaban Approved Phase 4 503612-47-3 10182969
14
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
15
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
16
Megestrol acetate Approved, Investigational, Vet_approved Phase 4 595-33-5 11683
17
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
18
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
19 Menaquinone Investigational Phase 4 1182-68-9
20
Coumarin Experimental Phase 4 91-64-5 323
21
Sarpogrelate Investigational Phase 4 125926-17-2 5160
22
Gestodene Investigational Phase 4 60282-87-3 3033968
23 Coagulants Phase 4
24 Hemostatics Phase 4
25 Antifibrinolytic Agents Phase 4
26 Fibrin Tissue Adhesive Phase 4
27 Fibrin fragment D Phase 4
28 Trace Elements Phase 4
29 Vitamins Phase 4
30 Micronutrients Phase 4
31 Nutrients Phase 4
32 Anti-Infective Agents Phase 4
33 naphthoquinone Phase 4
34 Vitamin K Phase 4
35 Iron Supplement Phase 4
36 Lactoferrin Phase 4
37 Platelet Aggregation Inhibitors Phase 4
38 Purinergic P2Y Receptor Antagonists Phase 4
39 Neurotransmitter Agents Phase 4
40 Serotonin Antagonists Phase 4
41 Serotonin Agents Phase 4
42 Anticoagulants Phase 4
43 Heparin, Low-Molecular-Weight Phase 4
44 Antithrombin III Phase 4
45 Antithrombins Phase 4
46 HIV Protease Inhibitors Phase 4
47
protease inhibitors Phase 4
48 Serine Proteinase Inhibitors Phase 4
49 Factor Xa Inhibitors Phase 4
50 Fibrinolytic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 157)
# 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 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
29 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)
30 Prévention Des Fausses Couches Spontanées Répétées Par Hydroxychloroquine. Essai thérapeutique Multicentrique, randomisé, en Double Insu, Contre Placebo Recruiting NCT03165136 Phase 3 Hydroxychloroquine;Placebo
31 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
32 Prospective Multi-Center Evaluation of the Duration of Therapy for Thrombosis in Children Recruiting NCT00687882 Phase 3
33 Multicentric Randomized Study of Xarelto Versus no Treatment for the Prevention of Recurrent Thrombosis in Patients With Chronic Portal Vein Thrombosis. Active, not recruiting NCT02555111 Phase 3 Xarelto
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 Use of Estriol at Distal Third of the Vaginal Wall Relieving Coital Pain in Women After Menopause: a Randomized, Blinded and Controlled Trial Recruiting NCT03116022 Phase 1 Estriol;Distal estriol;Vaginal Gel
39 Presence of Minor Anti Phospholipid Antibodies in Blood Samples of Ischemic Stroke Patients and Healthy Controls. Unknown status NCT01487746
40 Arterial Microcirculation, Macrocirculation and Thrombophilias Unknown status NCT01160159
41 Pulmonary Embolism After Liver Resection: A Prospective Analysis of Risk Factors Unknown status NCT01486511
42 Shanghai First Maternity and Infant Hospital Unknown status NCT02990390
43 The Effect of Reduced Dose of Enoxaparin on the Laboratory and Clinical Outcomes of Treatment With Enoxaparin Unknown status NCT00354796
44 Hypercoagulable Parameters as Predictors of Thrombotic Events and Prognosis in Patients With Advanced Non-Small Cell Lung Carcinoma Unknown status NCT00192829
45 Correlation Between Vitamin D Levels to ADAMTS13 , VWF and Micro RNA Expression in Diabetic Hemodialysis Patients Unknown status NCT02245633
46 A Retrospective Analysis of Possible Association Between Severe Pregnancy Complications and Elevated Factor VIII Plasma Activity. Unknown status NCT00573118
47 Observational Prospectif Monocentric Registry of Patients Suffering From VIE Unknown status NCT02188056
48 Hypercoagulability and Thromboembolic Risk in Patients With Malignant Disease, Evaluated by Thrombelastograph (TEG®) Unknown status NCT00400504
49 Prospective Registry to Evaluate the Effective Incidence of Chronic Thromboembolic Pulmonary Hypertension in Germany Unknown status NCT02660463
50 Prospective Surveillance for Nosocomial Infections and Catheter-related Thrombotic Events in Pediatric Patients Unknown status NCT00843804

Search NIH Clinical Center for Thrombophilia

Cochrane evidence based reviews: thrombophilia

Genetic Tests for Thrombophilia

Anatomical Context for Thrombophilia

MalaCards organs/tissues related to Thrombophilia:

40
Testes, Liver, Endothelial, Placenta, Heart, Kidney, Lung

Publications for Thrombophilia

Articles related to Thrombophilia:

(show top 50) (show all 5730)
# 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. 61 54
20118812 2010
3
Anti-prothrombin antibodies are associated with thrombosis in children. 54 61
19303627 2010
4
[Is venous thrombembolism during pregnancy an indication for routine assay of antithrombin activity and antithrombin supplementation?]. 54 61
20232702 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. 54 61
19937485 2009
7
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
8
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
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. 61 54
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. 54 61
19902870 2009
13
[Expression of annexin V in decidua tissues of preeclampsia patients]. 54 61
19620076 2009
14
Multiplex amplicon genotyping by high-resolution melting. 54 61
19568454 2009
15
Molecular pathophysiology of thrombotic states and their impact to laboratory diagnostics. 61 54
19365521 2009
16
Association of inherited thrombophilia with embryonic and postembryonic recurrent pregnancy loss. 61 54
19786941 2009
17
Ocular vascular thrombotic events: a diagnostic window to familial thrombophilia (compound factor V Leiden and prothrombin gene heterozygosity) and thrombosis. 61 54
18796459 2009
18
Inherited thrombophilia and preeclampsia within a multicenter cohort: the Montreal Preeclampsia Study. 61 54
19070828 2009
19
Placental histomorphology in unexplained foetal loss with thrombophilia. 61 54
19293440 2009
20
Factor v Leiden and antiphospholipid antibodies in either mothers or infants increase the risk for perinatal arterial ischemic stroke. 54 61
18927445 2009
21
Maternal thrombophilia and the risk of recurrence of preeclampsia. 61 54
18845284 2009
22
Is there an overlap between sudden neurosensorial hearing loss and cardiovascular risk factors? 54 61
19005247 2009
23
Thrombophilia and pulmonary endarterectomy. 61 54
19591378 2009
24
Amaurosis fugax caused by hereditary thrombophilia due to mutation of gene. 61 54
19507653 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. 54 61
19707467 2008
27
[Oral anticoagulat treatment in venous thromboembolic disease]. 61 54
19087853 2008
28
Comparison of thrombophilic gene mutations among patients experiencing recurrent miscarriage and deep vein thrombosis. 54 61
18803625 2008
29
[Pre-eclampsia screening in first and second trimester]. 61 54
18979429 2008
30
Tissue factor in the antiphospholipid syndrome. 54 61
18827061 2008
31
Portal and mesenteric vein thromboses in a patient with prothrombin G20210 mutation, elevated lipoprotein (a), and high factor VIII. 61 54
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
Venous thromboembolism in live kidney donors--a prospective study. 61 54
18791446 2008
34
Thrombophilic dimension of recurrent fetal loss in Indian patients. 61 54
18685442 2008
35
Severe arterial thrombophilia associated with a homozygous MTHFR gene mutation (A1298C) in a young man with Klinefelter syndrome. 61 54
18160591 2008
36
[Enzymatic (plasmin) blood system in patients with acute virus myocarditis and its medical correction]. 61 54
19253736 2008
37
Ocular vascular thrombotic events: central retinal vein and central retinal artery occlusions. 54 61
18160589 2008
38
Arteriovenous thrombosis in chronic renal failure patients receiving renal replacement therapy. 61 54
18760065 2008
39
Prevalence of factor V Leiden (G1691A) and prothrombin (G20210A) among Kurdish population from Western Iran. 54 61
17700999 2008
40
[Rare thrombophilic states]. 61 54
18394759 2008
41
Should patients with venous thromboembolism be screened for thrombophilia? 54 61
18501222 2008
42
Venous thromboembolism during pregnancy. 54 61
18619081 2008
43
[Therapeutic consequences of thrombophilic testing]. 54 61
18395945 2008
44
Thrombosis of sinus sagitalis during puerperium caused by thrombophilic gene mutation. 54 61
17574520 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. 61 54
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. 54 61
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

Variations for Thrombophilia

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

Expression for Thrombophilia

Search GEO for disease gene expression data for Thrombophilia.

Pathways for Thrombophilia

Pathways related to Thrombophilia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 THBD SERPINC1 PROS1 PROC F9 F8
2
Show member pathways
12.65 VWF THBD SERPINE1 SERPIND1 SERPINC1 PROS1
3 12.16 VWF THBD SERPINE1 SERPIND1 SERPINC1 PROS1
4
Show member pathways
12.1 THBD PROS1 PROCR PROC PF4 F2
5
Show member pathways
12.03 VWF THBD SERPINE1 SERPIND1 SERPINC1 PROS1
6
Show member pathways
11.77 PROS1 PROC F9 F2
7 11.71 THBD SERPINE1 JAK2 F3
8 10.8 PROS1 PROC F9 F2
9 10.57 SERPINE1 HRG

GO Terms for Thrombophilia

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.27 THBD SERPINE1 SERPINC1 PROS1 PROCR JAK2
2 extracellular exosome GO:0070062 10.11 VWF SERPINE1 SERPIND1 SERPINC1 PROS1 PROCR
3 collagen-containing extracellular matrix GO:0062023 9.91 VWF SERPINE1 SERPINC1 PF4 HRG F9
4 extracellular region GO:0005576 9.89 VWF SERPINE1 SERPIND1 SERPINC1 PROS1 PROCR
5 endoplasmic reticulum lumen GO:0005788 9.87 SERPIND1 SERPINC1 PROC F9 F8 F5
6 blood microparticle GO:0072562 9.73 SERPINC1 PROS1 HRG F2
7 Golgi lumen GO:0005796 9.71 PROS1 PROC F9 F2
8 platelet alpha granule lumen GO:0031093 9.7 VWF SERPINE1 PROS1 PF4 HRG F8
9 extracellular space GO:0005615 9.53 THBD SERPINE1 SERPIND1 SERPINC1 PROS1 PROCR
10 platelet alpha granule GO:0031091 9.48 VWF F5

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.93 PROS1 PROC F9 F8 F5 F2
2 cellular protein metabolic process GO:0044267 9.92 SERPIND1 SERPINC1 PROC F5 F2
3 negative regulation of endopeptidase activity GO:0010951 9.89 SERPINE1 SERPIND1 SERPINC1 PROS1 HRG
4 platelet activation GO:0030168 9.88 VWF PF4 HRG F8 F2
5 platelet degranulation GO:0002576 9.86 VWF SERPINE1 PROS1 PF4 HRG F8
6 negative regulation of blood coagulation GO:0030195 9.8 THBD SERPINE1 PROS1 PROC APOH
7 hemostasis GO:0007599 9.8 VWF THBD SERPIND1 SERPINC1 PROS1 PROCR
8 regulation of blood coagulation GO:0030193 9.77 SERPINC1 HRG F2 F11 APOH
9 fibrinolysis GO:0042730 9.73 SERPINE1 PROS1 HRG F2
10 antimicrobial humoral immune response mediated by antimicrobial peptide GO:0061844 9.72 PF4 HRG F2
11 negative regulation of fibrinolysis GO:0051918 9.72 THBD SERPINE1 HRG F2 APOH
12 positive regulation of blood coagulation GO:0030194 9.69 SERPINE1 F2 APOH
13 blood coagulation, intrinsic pathway GO:0007597 9.63 VWF F9 F8 F2 F11 APOH
14 plasminogen activation GO:0031639 9.58 F11 APOH
15 negative regulation of cell adhesion mediated by integrin GO:0033629 9.57 SERPINE1 HRG
16 negative regulation of platelet activation GO:0010544 9.56 THBD F2
17 negative regulation of coagulation GO:0050819 9.54 PROCR PROC
18 blood coagulation GO:0007596 9.53 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 9.88 THBD PROS1 PROC HABP2 F9 F2
2 peptidase activity GO:0008233 9.83 PROC HABP2 F9 F2 F11
3 protease binding GO:0002020 9.62 VWF SERPINE1 SERPINC1 F3
4 serine-type endopeptidase inhibitor activity GO:0004867 9.56 SERPINE1 SERPIND1 SERPINC1 HRG
5 serine-type peptidase activity GO:0008236 9.55 PROC HABP2 F9 F2 F11
6 serine-type endopeptidase activity GO:0004252 9.43 PROC HABP2 F9 F3 F2 F11
7 immunoglobulin binding GO:0019865 9.37 VWF HRG
8 heparin binding GO:0008201 9.17 SERPIND1 SERPINC1 PF4 HRG F2 F11

Sources for Thrombophilia

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
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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