MCID: THR015
MIFTS: 51

Thrombophilia

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

Aliases & Classifications for Thrombophilia

Summaries for Thrombophilia

Disease Ontology : 12 A blood coagulation disease that is characterized by an increased tendency to form clots.

MalaCards based summary : Thrombophilia, also known as hypercoagulability state, is related to prothrombin 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 Aspirin and Iron have been mentioned in the context of this disorder. Affiliated tissues include endothelial, placenta and kidney, 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...

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
Thrombophilia Due to Decreased Release of Plat Rare Hereditary Thrombophilia

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

(show top 50) (show all 528)
# Related Disease Score Top Affiliating Genes
1 prothrombin thrombophilia 33.0 MTHFR HRG HABP2 F2
2 antithrombin iii deficiency 32.4 SERPINC1 PF4 MTHFR JAK2 F5 F2
3 thrombophilia due to activated protein c resistance 32.2 VWF THBD SERPINE1 SERPINC1 MTHFR F8
4 protein c deficiency 32.1 THBD SERPINE1 SERPINC1 PROC MTHFR HRG
5 livedoid vasculitis 31.7 SERPINE1 SERPINC1 MTHFR F2 APOH
6 thrombophilia due to thrombin defect 31.7 VWF THBD SERPINE1 SERPINC1 PROCR PROC
7 protein s deficiency 31.7 THBD SERPINC1 PROS1 PROC MTHFR F5
8 budd-chiari syndrome 31.5 SERPINC1 MTHFR JAK2 F5 F3 F2
9 factor v deficiency 31.4 VWF F9 F8 F5 F3 F2
10 eclampsia 31.4 THBD SERPINC1 MTHFR F2
11 placenta disease 31.3 SERPINC1 MTHFR F5 F3 F2 APOH
12 prothrombin deficiency 31.2 SERPINC1 F9 F8 F3 F2 F11
13 placental abruption 31.2 THBD SERPINC1 PROC MTHFR F5 F2
14 osteonecrosis 31.1 SERPINE1 SERPINC1 MTHFR F2
15 severe pre-eclampsia 31.1 SERPINC1 F5 APOH
16 antiphospholipid syndrome 31.0 VWF THBD SERPINE1 SERPINC1 PROCR PF4
17 homocysteinemia 30.9 VWF THBD SERPINE1 SERPINC1 MTHFR F5
18 pre-eclampsia 30.9 VWF THBD SERPINE1 SERPINC1 MTHFR F5
19 sticky platelet syndrome 30.8 SERPINE1 SERPINC1 F5
20 amaurosis fugax 30.8 SERPINE1 MTHFR F5
21 dysfibrinogenemia, congenital 30.7 THBD SERPIND1 SERPINC1 F5 F2
22 legg-calve-perthes disease 30.7 THBD SERPINE1 SERPINC1 F5 APOH
23 retinal vein occlusion 30.7 SERPINE1 SERPINC1 MTHFR F5 F3 F2
24 neonatal stroke 30.6 SERPINE1 PROC MTHFR
25 homocystinuria 30.6 THBD SERPINC1 MTHFR F8 F5
26 portal vein thrombosis 30.6 SERPINE1 SERPINC1 PROC MTHFR JAK2 F5
27 branch retinal artery occlusion 30.6 SERPINC1 MTHFR F2 APOH
28 post-thrombotic syndrome 30.5 SERPINE1 SERPINC1 F8 F5 F3 F2
29 varicose veins 30.5 VWF THBD SERPINC1 MTHFR F5 F2
30 heparin-induced thrombocytopenia 30.5 SERPINC1 PF4 F3
31 portal hypertension 30.4 VWF JAK2 F3 F2
32 esophageal varix 30.4 SERPINC1 F3 F2
33 hemoglobinuria 30.4 THBD SERPINC1 F2
34 mastoiditis 30.4 SERPINC1 MTHFR F2
35 central retinal artery occlusion 30.3 SERPINC1 MTHFR F2
36 thoracic outlet syndrome 30.3 SERPINC1 F2
37 pulmonary embolism 30.3 VWF THBD SERPINE1 SERPINC1 PROS1 PROC
38 cerebral sinovenous thrombosis 30.3 PROS1 MTHFR F5 F3 F2 APOH
39 hemolytic-uremic syndrome 30.3 VWF THBD SERPINC1 F3 F2
40 placental insufficiency 30.3 VWF SERPINE1 SERPINC1 F3 F2
41 hemophilia a 30.3 VWF F9 F8 F3
42 lemierre's syndrome 30.3 MTHFR F3 F2
43 spinal cord infarction 30.3 SERPINC1 MTHFR F5 F2 APOH
44 atrial heart septal defect 30.3 SERPINC1 MTHFR F3 F2
45 retinal vascular occlusion 30.3 SERPINC1 MTHFR F5 F3 F2 APOH
46 cerebral palsy 30.3 SERPINE1 SERPINC1 PROCR MTHFR F5 F2
47 thrombotic microangiopathy 30.3 VWF THBD F3
48 paroxysmal nocturnal hemoglobinuria 30.3 THBD SERPINC1 F2
49 nonarteritic anterior ischemic optic neuropathy 30.3 SERPINC1 MTHFR F5 F2 APOH
50 patent foramen ovale 30.3 VWF SERPINE1 SERPINC1 MTHFR F5 F3

Graphical network of the top 20 diseases related to Thrombophilia:



Diseases related to Thrombophilia

Symptoms & Phenotypes for Thrombophilia

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 9.44 JAK2
2 Decreased viability GR00249-S 9.44 F5 PF4 SERPINE1
3 Decreased viability GR00381-A-1 9.44 PROCR
4 Decreased viability GR00381-A-3 9.44 PROCR
5 Decreased viability GR00386-A-1 9.44 F8 MTHFR PF4 PROS1
6 Decreased viability GR00402-S-2 9.44 F11 HRG PF4

MGI Mouse Phenotypes related to Thrombophilia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.25 F11 F2 F3 F5 F9 JAK2
2 homeostasis/metabolism MP:0005376 10.23 APOH F11 F2 F3 F5 F8
3 hematopoietic system MP:0005397 10.17 F11 F3 F8 F9 JAK2 PF4
4 embryo MP:0005380 10.02 F2 F3 F5 F9 JAK2 PROCR
5 immune system MP:0005387 9.97 F11 F2 F3 F8 F9 HABP2
6 liver/biliary system MP:0005370 9.7 F11 F5 F9 HABP2 JAK2 MTHFR
7 mortality/aging MP:0010768 9.58 APOH F11 F2 F3 F5 F8

Drugs & Therapeutics for Thrombophilia

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

(show top 50) (show all 98)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
2
Iron Approved Phase 4 7439-89-6 23925 29936
3
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
4
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
5
Polyestradiol phosphate Approved Phase 4 28014-46-2
6
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
7
Lactoferrin Investigational Phase 4 151186-19-5
8
Sarpogrelate Investigational Phase 4 125926-17-2 5160
9
Gestodene Investigational Phase 4 60282-87-3 3033968
10 Anti-Inflammatory Agents Phase 4
11 Analgesics, Non-Narcotic Phase 4
12 Anti-Inflammatory Agents, Non-Steroidal Phase 4
13 Antirheumatic Agents Phase 4
14 Analgesics Phase 4
15 Cyclooxygenase Inhibitors Phase 4
16 Antipyretics Phase 4
17 Platelet Aggregation Inhibitors Phase 4
18 Iron Supplement Phase 4
19 Neurotransmitter Agents Phase 4
20 Anticoagulants Phase 4
21 calcium heparin Phase 4
22 Antithrombins Phase 4
23 Hormones Phase 4
24 Contraceptives, Oral Phase 4
25 Contraceptive Agents Phase 4
26 Antithrombin III Phase 4
27 Serine Proteinase Inhibitors Phase 4
28 HIV Protease Inhibitors Phase 4
29
protease inhibitors Phase 4
30 Estradiol 3-benzoate Phase 4
31 Estradiol 17 beta-cypionate Phase 4
32 Contraceptives, Oral, Combined Phase 4
33 Hormone Antagonists Phase 4
34 Estrogens Phase 4
35 Progestins Phase 4
36
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
37
Serine Investigational, Nutraceutical Phase 4 56-45-1 5951
38
Nadroparin Approved, Investigational Phase 3
39
Phenprocoumon Approved, Investigational Phase 3 435-97-2 9908 54680692
40
Clopidogrel Approved Phase 3 120202-66-6, 113665-84-2 60606
41 Calcium, Dietary Phase 3
42 Purinergic P2Y Receptor Antagonists Phase 3
43
Calcium Nutraceutical Phase 3 7440-70-2 271
44
Fondaparinux Approved, Investigational 104993-28-4
45
Hydroxychloroquine Approved 118-42-3 3652
46
Dalteparin Approved 9005-49-6
47
Tinzaparin Approved 9041-08-1, 9005-49-6 25244225
48
Enoxaparin Approved 9005-49-6 772
49
Warfarin Approved 81-81-2 6691 54678486
50
Rivaroxaban Approved 366789-02-8

Interventional clinical trials:

(show top 50) (show all 82)
# 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 DLBS1033 Therapy in Improving Hypercoagulation State in Subjects With Type 2 Diabetes Mellitus Completed NCT01865474 Phase 4 DLBS1033;placebo tablet of DLBS1033
3 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
4 the Effect of Unfractionated Heparin in Treatment of IVF-ET Failure Completed NCT01214772 Phase 4 heparin
5 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 Completed NCT03509922 Phase 4 Anplag Tab. 100mg bid;Anplag Tab. 100mg tid
6 Response of Recombinant Antithrombin in Heparin Resistant Patients Undergoing Cardiac Surgery Terminated NCT01547728 Phase 4 Recombinant antithrombin (rhAT)
7 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
8 Low Molecular Weight Heparin for Pregnant Women With Thrombophilia: a Prospective, Randomized, Open Trial Unknown status NCT01019655 Phase 3 Nadroparin calcium
9 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
10 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
11 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
12 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
13 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
14 Prevention of Recurrent Venous Thromboembolism in Patients With Low Circulating Levels of Antithrombin. Extended Anticoagulation vs 12-Month Oral Anticoagulation Unknown status NCT01382550 long-lasting OAT or 12-month OAT
15 Arterial Microcirculation, Macrocirculation and Thrombophilias Unknown status NCT01160159
16 A Proposal of a Prospective Study on Prevention of Pregnancy Loss in Women Carrying Inherited Thrombophilia Unknown status NCT02385461 Low Molecular Weight Heparins (LMWHs)
17 Hypercoagulability and Thromboembolic Risk in Patients With Malignant Disease, Evaluated by Thrombelastograph (TEG®) Unknown status NCT00400504
18 Hypercoagulation Screening as Innovative Tool for Risk Assessment, Early Diagnosis and Prognosis in Cancer Unknown status NCT02622815
19 The Effect of Reduced Dose of Enoxaparin on the Laboratory and Clinical Outcomes of Treatment With Enoxaparin Unknown status NCT00354796
20 Hypercoagulable Parameters as Predictors of Thrombotic Events and Prognosis in Patients With Advanced Non-Small Cell Lung Carcinoma Unknown status NCT00192829
21 Pulmonary Embolism After Liver Resection: A Prospective Analysis of Risk Factors Unknown status NCT01486511
22 Frankfurt Thrombophilia Registry - Evaluation of Patients With Venous Thromboembolism Completed NCT00683397
23 Markers of Microvascular Lesion in Adult Patients With Acquired Sudden Cochelo-vestibular Deficiency Completed NCT03919474
24 Pharmacokinetic and Pharmacodynamic Study of Oral Quercetin and Isoquercetin in Healthy Adults and Patients With Hypercoagulable States. Completed NCT01722669 Early Phase 1 isoquercetin or quercetin
25 Selective Thromboembolism Prophylaxis After Total Hip Arthroplasty or Total Knee Arthroplasty by a Risk Stratification With Thromboelastography for Asian Populations: A Randomized Control Trial Completed NCT03804697 selective anticoagulation
26 Increased Risk of Venous Thromboembolism and Higher Hypercoagulable State in Patients Recovered in Intensive Care Unit and in Medical Ward for Coronavirus Disease 2019 (COVID-19) Completed NCT04359212 thromboprophylaxis with low-molecular-weight heparin or fondaparinux
27 Pulmonary Vein Ablation for Atrial Fibrillation: Safety Monitoring by Transesphoageal Echo, Intracardiac Echo and Computed Tomography and Assessment of Predictors of Recurrence and of Hypercoagulable State Completed NCT00590668
28 Prospective Registry in Young Women Presenting Acute Myocardial Infarction in France: Clinical, Morphological and Biological Descriptive Analysis: WAMIF Study Completed NCT03073447
29 Thromboelastography to Assess Age-Related Coagulation Differences in Patients Undergoing Elective Cesarean Delivery. Completed NCT01416454
30 Thrombin Generation and Gestational Outcome in Women With Recurrent Pregnancy Loss Completed NCT02139670
31 Thrombophilia and Thyroid Autoimmunity in Implantation Failure and Recurrent Miscarriage Completed NCT00485446
32 A Multicenter Clinical Study to Determine the Performance Characteristics of the MassPLEX Factor II and Factor V Leiden Genotyping Test in Patients With Suspected Thrombophilia Completed NCT01835483
33 Thrombophilia and Migraine, Are They Related? - A Clinical Study Completed NCT00457184
34 Acral Cutaneous Thrombotic Vasculopathy and Covid-19 Infection: Search for Acquired Thrombophilia and Interferon-alpha Signature Completed NCT04361786
35 Association of Thrombophilia and Inflammation With Post-Thrombotic Syndrome Completed NCT00395265
36 EFFects of Thrombophilia on the Outcomes of Assisted Reproduction Completed NCT02407730
37 Otogenic Cerebral Sinus Vein Thrombosis in Children: Retrospective Case Series and Associated Thrombophilia Completed NCT03864055
38 Evaluation of the Incidence of Cancer in the Follow-up of Women With 3 Consecutive Embryonic Demises Before 10 Weeks or 1 Fetal Death, According to Their Thrombophilia Status, With a Special Focus on Women With an Obstetric Antiphospholipid Symdrome (oAPS) Completed NCT03969498
39 The Etiologic Role of Inflammation, Thrombophilia and Fibrinolysis in the Post-thrombotic Syndrome: The Bio-SOX Sub Study Completed NCT01615705
40 Iliofemoral Thrombosis and Postthrombotic Syndrome: Registration and Analysis Within the Frankfurt Thrombophilia Registry Completed NCT03148548
41 Prediction of Recurrent Pregnancy Loss by a New Thrombophilia Based Genetic Risk Score Completed NCT03336463
42 Pharmacokinetics of Low Molecular Weight and Unfractionated Heparin in Pregnancy Completed NCT00721591
43 Guilford Genomic Medicine Initiative (GGMI) Completed NCT01372553
44 Study of the Vascular Compartment and Hypercoagulability During Coronavirus Infection COVID-19 Completed NCT04367662
45 Role of the Circulating Procoagulants Microparticles in the Hypercoagulability of Chronic Philadelphia Negative Myeloproliferative Neoplasms Completed NCT02862366
46 Thromboelastometry (ROTEM) For Detecting Hypercoagulability in Morbidly Obese and Non Obese Parturients Following Cesarean Section Delivery: An Observational Study Completed NCT02718924
47 Plasma Coagulation Parameters and Hypercoagulability After Breast Cancer Surgery Completed NCT00210197
48 Effect of Hydroxychloroquine on the Annexin A5 Resistance Assay in Antiphospholipid Antibody-Positive Patients With and Without Systemic Lupus Erythematosus Completed NCT01475149
49 Does Vitamin D Deficiency Associated With Hypercoagulability & Increased Thrombin Generation? Completed NCT01799655
50 Prevalence of Clinical and Laboratory Markers of Hypofibrinolysis in Psychotic Patients Completed NCT01487291

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
Endothelial, Placenta, Kidney, Thyroid, Ovary, Skin, Liver

Publications for Thrombophilia

Articles related to Thrombophilia:

(show top 50) (show all 6077)
# Title Authors PMID Year
1
High-density lipoprotein inversely relates to its specific autoantibody favoring oxidation in thrombotic primary antiphospholipid syndrome. 61 54
20064910 2010
2
Venous thrombosis and procoagulant factors in high-risk neuroblastoma. 54 61
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. 54 61
19793098 2009
6
Risk factors for thrombophilia in young adults presenting with thrombosis. 61 54
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. 61 54
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. 54 61
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
Multiplex amplicon genotyping by high-resolution melting. 61 54
19568454 2009
13
Cerebral venous sinus thrombosis as presenting feature of ulcerative colitis. 54 61
19902870 2009
14
[Expression of annexin V in decidua tissues of preeclampsia patients]. 61 54
19620076 2009
15
Association of inherited thrombophilia with embryonic and postembryonic recurrent pregnancy loss. 54 61
19786941 2009
16
Molecular pathophysiology of thrombotic states and their impact to laboratory diagnostics. 54 61
19365521 2009
17
Placental histomorphology in unexplained foetal loss with thrombophilia. 54 61
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. 61 54
19070828 2009
20
Amaurosis fugax caused by hereditary thrombophilia due to mutation of gene. 61 54
19507653 2009
21
Is there an overlap between sudden neurosensorial hearing loss and cardiovascular risk factors? 54 61
19005247 2009
22
Thrombophilia and pulmonary endarterectomy. 54 61
19591378 2009
23
Factor v Leiden and antiphospholipid antibodies in either mothers or infants increase the risk for perinatal arterial ischemic stroke. 61 54
18927445 2009
24
Maternal thrombophilia and the risk of recurrence of preeclampsia. 61 54
18845284 2009
25
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
26
Regulation of plasminogen activator inhibitor type 1 gene expression by inflammatory mediators and statins. 54 61
19132219 2008
27
[Pre-eclampsia screening in first and second trimester]. 61 54
18979429 2008
28
[Oral anticoagulat treatment in venous thromboembolic disease]. 61 54
19087853 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. 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
Thrombophilic dimension of recurrent fetal loss in Indian patients. 61 54
18685442 2008
33
Hereditary and acquired thrombophilia in patients with upper extremity deep-vein thrombosis. Results from the MAISTHRO registry. 61 54
18766260 2008
34
Venous thromboembolism in live kidney donors--a prospective study. 54 61
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. 54 61
18160589 2008
37
[Enzymatic (plasmin) blood system in patients with acute virus myocarditis and its medical correction]. 54 61
19253736 2008
38
Arteriovenous thrombosis in chronic renal failure patients receiving renal replacement therapy. 61 54
18760065 2008
39
Should patients with venous thromboembolism be screened for thrombophilia? 54 61
18501222 2008
40
Venous thromboembolism during pregnancy. 61 54
18619081 2008
41
[Therapeutic consequences of thrombophilic testing]. 61 54
18395945 2008
42
Prevalence of factor V Leiden (G1691A) and prothrombin (G20210A) among Kurdish population from Western Iran. 54 61
17700999 2008
43
[Rare thrombophilic states]. 61 54
18394759 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. 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
Amelioration of clinical severity of similar mutations severe factor IX deficiency by coinherited thrombophilia. 54 61
18028421 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
12.69 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:

(show all 11)
# 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 cell surface GO:0009986 9.89 THBD PROCR HRG F3 APOH
5 extracellular region GO:0005576 9.89 VWF SERPINE1 SERPIND1 SERPINC1 PROS1 PROCR
6 endoplasmic reticulum lumen GO:0005788 9.87 SERPIND1 SERPINC1 PROC F9 F8 F5
7 blood microparticle GO:0072562 9.73 SERPINC1 PROS1 HRG F2
8 Golgi lumen GO:0005796 9.71 PROS1 PROC F9 F2
9 platelet alpha granule lumen GO:0031093 9.7 VWF SERPINE1 PROS1 PF4 HRG F8
10 extracellular space GO:0005615 9.55 VWF THBD SERPINE1 SERPIND1 SERPINC1 PROS1
11 platelet alpha granule GO:0031091 9.48 VWF F5

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

(show all 19)
# 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 antimicrobial humoral immune response mediated by antimicrobial peptide GO:0061844 9.73 PF4 HRG F2
10 fibrinolysis GO:0042730 9.73 SERPINE1 PROS1 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 cytolysis by host of symbiont cells GO:0051838 9.58 HRG F2
16 negative regulation of cell adhesion mediated by integrin GO:0033629 9.57 SERPINE1 HRG
17 negative regulation of platelet activation GO:0010544 9.55 THBD F2
18 negative regulation of coagulation GO:0050819 9.54 PROCR PROC
19 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 9.91 THBD PROS1 PROC HABP2 F9 F2
2 peptidase activity GO:0008233 9.85 PROC HABP2 F9 F2 F11
3 protease binding GO:0002020 9.62 VWF SERPINE1 SERPINC1 F3
4 endopeptidase inhibitor activity GO:0004866 9.58 SERPIND1 PROS1 HRG
5 serine-type endopeptidase inhibitor activity GO:0004867 9.56 SERPINE1 SERPIND1 SERPINC1 HRG
6 serine-type peptidase activity GO:0008236 9.55 PROC HABP2 F9 F2 F11
7 serine-type endopeptidase activity GO:0004252 9.43 PROC HABP2 F9 F3 F2 F11
8 immunoglobulin binding GO:0019865 9.37 VWF HRG
9 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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