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MCID: THR015
MIFTS: 56

Thrombophilia

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory 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 56 3 45 15 41 17 74
Hypercoagulability State 12

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Respiratory diseases Cardiovascular diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:2452
MeSH 45 D019851
NCIt 51 C84479
SNOMED-CT 69 76612001
ICD10 34 D68.59
UMLS 74 C0398623
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Summaries for Thrombophilia

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CDC : 3 Many people who have or have had family members with hemophilia will ask that their baby boys get tested soon after birth.

MalaCards based summary : Thrombophilia, also known as hypercoagulability state, is related to antithrombin iii deficiency and protein c deficiency. An important gene associated with Thrombophilia is F5 (Coagulation Factor V), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Heparin and Dalteparin have been mentioned in the context of this disorder. Affiliated tissues include testes, placenta and endothelial, and related phenotypes are homeostasis/metabolism and cardiovascular system

Wikipedia : 77 Thrombophilia (sometimes 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
Prothrombin-Related Thrombophilia

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

(show top 50) (show all 341)
# Related Disease Score Top Affiliating Genes
1 antithrombin iii deficiency 33.3 APOH F2 F5 MTHFR SERPINC1
2 protein c deficiency 32.6 F2 F5 F9 HRG MTHFR PROC
3 thrombophilia due to activated protein c resistance 31.6 APOH F2 F3 F5 F8 F9
4 protein s deficiency 31.5 APOH F2 F3 F5 MTHFR PROS1
5 livedoid vasculitis 31.4 APOH F2 F8 MTHFR SERPINC1 SERPINE1
6 budd-chiari syndrome 31.3 APOH F2 F3 F5 JAK2 MTHFR
7 thrombophilia due to thrombin defect 31.0 APOH F2 F3 F5 F8 MTHFR
8 antiphospholipid syndrome 30.7 APOH F2 F3 F5 MTHFR SERPINC1
9 osteonecrosis 30.7 F2 MTHFR SERPINC1 SERPINE1
10 eclampsia 30.6 F2 MTHFR SERPINC1 THBD
11 sticky platelet syndrome 30.6 F5 SERPINC1 SERPINE1
12 placenta disease 30.5 APOH F3 F5 MTHFR SERPINC1
13 severe pre-eclampsia 30.4 APOH F5 SERPINC1
14 homocysteinemia 30.3 F2 F5 MTHFR SERPINC1
15 amaurosis fugax 30.3 F5 MTHFR SERPINE1
16 cerebral palsy 30.3 F2 F5 MTHFR
17 legg-calve-perthes disease 30.2 APOH F5 SERPINC1 SERPINE1 THBD
18 patent foramen ovale 30.2 APOH F2 F5 MTHFR SERPINC1
19 nonarteritic anterior ischemic optic neuropathy 30.2 F2 F5 MTHFR SERPINC1
20 homocystinuria 30.2 F5 MTHFR SERPINC1
21 retinal vein occlusion 30.1 APOH F2 F5 MTHFR SERPINC1 SERPINE1
22 hemoglobin e disease 30.1 F2 F5
23 lateral sinus thrombosis 30.1 F9 MTHFR
24 coronary artery anomaly 30.1 F2 F5 SERPINE1
25 central retinal vein occlusion 30.1 APOH F2 F5 MTHFR SERPINC1
26 arteritic anterior ischemic optic neuropathy 30.0 F2 F5 MTHFR
27 neonatal stroke 30.0 MTHFR PROC SERPINE1
28 porencephaly 30.0 F2 F5 MTHFR
29 retinal vascular occlusion 30.0 APOH F2 F5 MTHFR SERPINC1
30 ischemic optic neuropathy 30.0 APOH F2 F5 MTHFR SERPINC1
31 endocarditis 30.0 APOH F2 SERPINC1
32 polycythemia vera 29.9 F5 JAK2 THBD
33 buerger disease 29.9 APOH F2 MTHFR SERPINE1
34 post-thrombotic syndrome 29.8 F2 F5 F8 SERPINC1 SERPINE1
35 infective endocarditis 29.8 APOH F2 SERPINE1
36 dysfibrinogenemia 29.8 F2 F5 SERPINC1 SERPIND1 THBD
37 cerebral sinovenous thrombosis 29.8 APOH F2 F3 F5 PROS1
38 placental abruption 29.8 APOH F2 F5 MTHFR SERPINC1 THBD
39 hemolytic-uremic syndrome 29.8 F3 THBD VWF
40 catastrophic antiphospholipid syndrome 29.7 APOH F3 F5 MTHFR PROC SERPINE1
41 thrombocytosis 29.7 F2 F3 JAK2 SERPINC1
42 acute myocardial infarction 29.7 F3 SERPINC1 SERPINE1 VWF
43 vasculitis 29.7 APOH THBD VWF
44 lemierre's syndrome 29.7 F11 F3 MTHFR SERPINE1
45 varicose veins 29.7 F2 F5 MTHFR SERPINC1 VWF
46 portal vein thrombosis 29.6 APOH F2 F5 JAK2 MTHFR SERPINC1
47 branch retinal artery occlusion 29.5 APOH F2 F3 MTHFR SERPINC1
48 blood coagulation disease 29.4 F2 F3 F5 F8 F9 JAK2
49 venous insufficiency 29.4 F2 SERPINE1 VWF
50 portal hypertension 29.4 F2 JAK2 VWF

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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MGI Mouse Phenotypes related to Thrombophilia:

47
# 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 10.27 F11 F2 F3 F5 F9 PROC
3 hematopoietic system MP:0005397 10.25 F11 F2 F3 F8 F9 JAK2
4 immune system MP:0005387 10.1 F11 F2 F3 F8 F9 JAK2
5 embryo MP:0005380 10.09 F2 F3 F5 F9 JAK2 PROCR
6 mortality/aging MP:0010768 9.89 APOH F11 F2 F3 F5 F8
7 integument MP:0010771 9.86 F2 F3 F5 JAK2 MTHFR PROS1
8 liver/biliary system MP:0005370 9.85 F11 F5 F9 JAK2 MTHFR PROC
9 nervous system MP:0003631 9.32 F11 F2 F3 F5 MTHFR 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 261)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4,Phase 3,Not Applicable 9005-49-6 46507594 772
2
Dalteparin Approved Phase 4,Phase 3,Not Applicable 9005-49-6
3
Enoxaparin Approved Phase 4,Phase 3,Phase 2,Not Applicable 9005-49-6 772
4
Aspirin Approved, Vet_approved Phase 4,Phase 3,Not Applicable 50-78-2 2244
5
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 27284 23925
6
Rivaroxaban Approved Phase 4,Phase 3,Not Applicable 366789-02-8
7
Benzocaine Approved, Investigational Phase 4,Phase 3 1994-09-7, 94-09-7 2337
8
tannic acid Approved Phase 4,Phase 3 1401-55-4
9
Polyestradiol phosphate Approved Phase 4,Not Applicable 28014-46-2
10
Estradiol Approved, Investigational, Vet_approved Phase 4,Not Applicable 50-28-2 5757
11
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
12
Megestrol acetate Approved, Investigational, Vet_approved Phase 4 595-33-5 11683
13
Calcium Approved, Nutraceutical Phase 4,Phase 3,Not Applicable 7440-70-2 271
14
Serine Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 56-45-1 5951
15
Choline Approved, Nutraceutical Phase 4 62-49-7 305
16
Sarpogrelate Investigational Phase 4 125926-17-2 5160
17
Gestodene Investigational Phase 4 60282-87-3 3033968
18 calcium heparin Phase 4,Phase 3,Not Applicable
19 Fibrinolytic Agents Phase 4,Phase 3,Phase 2,Not Applicable
20 Anticoagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
21 Heparin, Low-Molecular-Weight Phase 4,Phase 3,Not Applicable
22 Trace Elements Phase 4,Phase 3,Not Applicable
23 Nutrients Phase 4,Phase 3,Not Applicable
24 Micronutrients Phase 4,Phase 3,Not Applicable
25 Calcium, Dietary Phase 4,Phase 3,Not Applicable
26 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
27 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Not Applicable
28 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
29 Cyclooxygenase Inhibitors Phase 4,Phase 3,Not Applicable
30 Anti-Inflammatory Agents Phase 4,Phase 3,Not Applicable
31 Analgesics Phase 4,Phase 3,Phase 2,Not Applicable
32 Analgesics, Non-Narcotic Phase 4,Phase 3,Not Applicable
33 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
34 Antipyretics Phase 4,Phase 3,Not Applicable
35 Antithrombins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
36 Antithrombin III Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
37 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
39 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
40 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
41 Antibodies Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
42 Antibodies, Antiphospholipid Phase 4,Phase 3,Not Applicable
43 Serine Proteinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
44 Factor Xa Inhibitors Phase 4,Phase 2,Phase 3,Not Applicable
45 Factor VIII Phase 4,Phase 1,Phase 2,Not Applicable
46 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
47 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
48 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
49 Hormone Antagonists Phase 4,Phase 3,Phase 2
50 Hormones Phase 4,Phase 3,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 274)
# Name Status NCT ID Phase Drugs
1 Low Molecular Weight Heparin in Prevention of Recurrent Arteriovenous Graft Thrombosis in Chronic Hemodialysis Patients. Unknown status NCT01970280 Phase 4 Enoxaparin
2 Bovine Lactoferrin to Prevent and Cure Iron Deficiency and Iron Deficiency Anemia in Complicated Pregnancies Completed NCT01221844 Phase 4 FerroGrad by Abbott
3 The Effect of Heparin in Treatment IVF-ET Failure Completed NCT01214772 Phase 4 heparin
4 Efficacy and Safety of DLBS1033 in Subjects With Type 2 Diabetes Mellitus Completed NCT01865474 Phase 4 DLBS1033;placebo tablet of DLBS1033
5 Implantation Failure and PGD Completed NCT00547781 Phase 4
6 Coagulation Profile in Patients Undergoing Video Assisted Thorascopic Surgery (VATS) for Lung Cancer Completed NCT01741506 Phase 4 Dalteparin (Fragmin®)
7 Aspirin and Enoxaparin for VTE in Trauma Completed NCT02396732 Phase 4 Aspirin;Enoxaparin
8 Rivaroxaban for Antiphospholipid Antibody Syndrome Completed NCT02116036 Phase 4 Rivaroxaban
9 Citicoline Effect on Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) Completed NCT03046693 Phase 4 Group A Citicoline 1000 mg oral tablet;Group B placebo oral tablet
10 Clinical Pharmacokinetics Study of ART-123 in Disseminated Intravascular Coagulation (DIC) Subjects With Renal Impairment Completed NCT01704001 Phase 4 ART-123
11 Diagnosis and Treatment Strategy of Recurrent Spontaneous Abortion Associated With Thrombophilla Recruiting NCT02986594 Phase 4 Aspirin;Heparin
12 A Study to Evaluate Efficacy of rFVIIIFc for Immune Tolerance Induction (ITI) in Severe Hemophilia A Participants With Inhibitors Undergoing the First ITI Treatment (verITI-8 Study) Recruiting NCT03093480 Phase 4
13 A Study to Evaluate the Effect of Sarpogrelate on Blood Hyperviscosity Enrolling by invitation NCT03509922 Phase 4 Anplag Tab. 100mg bid;Anplag Tab. 100mg tid
14 Response of Recombinant Antithrombin in Heparin Resistant Patients Undergoing Cardiac Surgery Terminated NCT01547728 Phase 4 Recombinant antithrombin (rhAT)
15 Comparison of Coagulation Profiles Between Zoely and Minidoz: RCT Terminated NCT03531437 Phase 4 1.5 mg estradiol and 2.5 mg nomegestrol acetate;15 µg ethinylestradiol and 60 µg gestodene
16 Atenativ Effect on Uterine Blood Flow and Preeclampsia Withdrawn NCT02278575 Phase 4 Atenativ
17 Prophylactic Plasma Infusion Therapy for Congenital Thrombotic Thrombocytopenic Purpura Withdrawn NCT01754545 Phase 4 Octaplas infusion and placebo (group 1);Octaplas infusion and placebo (group 2)
18 Heparin for Pregnant Women With Thrombophilia Unknown status NCT01019655 Phase 3 Nadroparin calcium
19 ThrombElastoGraphic Haemostatic Status and Antiplatelet Therapy After Coronary Artery Bypass Graft Surgery Unknown status NCT01046942 Phase 3 Clopidogrel+acetylsalicylic acid;acetylsalicylic acid
20 Effects of Different Doses of Ticagrelor on Platelet Aggregation and Endothelial Function in Diabetic Patients With Stable Coronary Artery Disease Unknown status NCT02889549 Phase 2, Phase 3 ticagrelor;clopidogrel
21 Safety and Efficacy of Low-Dose Ticagrelor in Chinese Patients With NSTE-ACS Unknown status NCT02415803 Phase 3 low-dose ticagrelor;conventional-dose ticagrelor;Clopidogrel
22 Effects of the Concentrated Extract of Soy on Coagulation Factors After Menopause Unknown status NCT00925639 Phase 3 Isoflavone;Placebo
23 D-Dimer Guided Oral Anticoagulant Treatment (OAT) Unknown status NCT00895505 Phase 3 Phenprocoumon;Warfarin-Natrium
24 Efficacy and Safety of Unfractionated Heparin on Severe Sepsis With Suspected Disseminated Intravascular Coagulation Unknown status NCT02654561 Phase 3 Heparin Sodium;Saline
25 TIPPS: Thrombophilia in Pregnancy Prophylaxis Study Completed NCT00967382 Phase 3 dalteparin sodium
26 Low Weight Heparin prOphylaxis for Placental‐Mediated Complications of PrEgnancy Completed NCT01388322 Phase 3 Enoxaparin
27 Low Molecular Weight Heparin and/or Aspirin in Prevention of Habitual Abortion Completed NCT00959621 Phase 3 Aspirin;Klexane;Klexane and ASA
28 Vitamins C and Vitamin E and Cardiovascular Risk Completed NCT00362518 Phase 3
29 An Open-label Study of KW-3357 Completed NCT01384903 Phase 3 KW-3357;Plasma-derived antithrombin
30 A Clinical Study of KW-3357 in Patients With DIC Completed NCT01384396 Phase 3 KW-3357
31 Prevention of Maternal and Perinatal Complications by Enoxaparin in Women With Previous Severe Preeclampsia Completed NCT00986765 Phase 3 Lovenox® (enoxaparin);Aspegic ® (Aspirin)
32 N-Acetylcysteine in Patients With Sickle Cell Disease Completed NCT01849016 Phase 3 N-Acetylcysteine;Placebo
33 Efficacy and Safety Study of Protein C Concentrate in Subjects With Severe Congenital Protein C Deficiency Completed NCT00157118 Phase 2, Phase 3 Protein C Concentrate (Human) Vapor Heated
34 Recombinant Human Antithrombin (rhAT) in Patients With Hereditary Antithrombin Deficiency Undergoing Surgery or Delivery Completed NCT00110513 Phase 3
35 Study of Recombinant Factor IX Product, IB1001, in Subjects With Hemophilia B Completed NCT00768287 Phase 2, Phase 3
36 Phase III Trial With Caplacizumab in Patients With Acquired Thrombotic Thrombocytopenic Purpura Completed NCT02553317 Phase 3
37 Study of Cyclosporine or Corticosteroids as an Adjunct to Plasma Exchange in Thrombotic Thrombocytopenic Purpura (TTP) Completed NCT00713193 Phase 3 Cyclosporine;Prednisone
38 Assess Incidence of Deep Vein Thrombosis(DVT)Following Administration of Recombinant Human Antithrombin (rhAT) to Hereditary Antithrombin(AT) Deficient Patients in High Risk Situations. Completed NCT00056550 Phase 3
39 Hydroxychloroquine for Prevention of Recurrent Miscarriage. Recruiting NCT03165136 Phase 3 Hydroxychloroquine;Placebo
40 Edoxaban for the Treatment of Coagulopathy in Patients With Active Cancer and Acute Ischemic Stroke: a Pilot Study. (ENCHASE Study) Recruiting NCT03570281 Phase 2, Phase 3 Edoxaban;Enoxaparin
41 Esomeprazole for the Prevention of Preeclampsia Recruiting NCT03717740 Phase 3 Esomeprazole;Placebo
42 HOPE-B: Trial of AMT-061 in Severe or Moderately Severe Hemophilia B Patients Recruiting NCT03569891 Phase 3
43 Xarelto Versus no Treatment for the Prevention of Recurrent Thrombosis in Patients With Chronic Portal Vein Thrombosis. Active, not recruiting NCT02555111 Phase 3 Xarelto
44 Safety, Pharmacokinetics and Efficacy of an AT-III Concentrate. Active, not recruiting NCT00319228 Phase 2, Phase 3 Plasma-derived AT-III concentrate
45 A Phase 3, Randomized, Controlled Study of Prophylactic and On-demand Treatment of cTTP With BAX 930 (rADAMTS13) Active, not recruiting NCT03393975 Phase 3
46 Follow-up Study for Patients Who Completed Study ALX0681-C301 (Post-HERCULES) Active, not recruiting NCT02878603 Phase 3
47 Magnesium Sulfate in Thrombotic Thrombocytopenic Purpura in Intensive Care Not yet recruiting NCT03237819 Phase 3 Sulfate, Magnesium;Placebo - Concentrate
48 Prevention of Unexplained Recurrent Abortion by Enoxaparine Terminated NCT00740545 Phase 3 enoxaparine 40 mg daily;placebo
49 Weight Adjusted Low Molecular Weight Heparin in Recurrent Implantation Failure: a Randomized Open Labeled Trial Terminated NCT02991950 Phase 3 Parnaparin Sodium
50 A Phase 3 Clinical Study of KW-3357 in Patients With DIC Terminated NCT01384409 Phase 3 KW-3357

Search NIH Clinical Center for Thrombophilia

Cochrane evidence based reviews: 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:

42
Testes, Placenta, Endothelial, Kidney, Brain, Thyroid, Myeloid
Sources

Publications for Thrombophilia

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Articles related to Thrombophilia:

(show top 50) (show all 1755)
# Title Authors Year
1
High detection rates of antithrombin deficiency and antiphospholipid syndrome in outpatients aged over 50 years using the standardized protocol for thrombophilia screening. ( 30780006 )
2019
2
CENTRAL RETINAL VEIN OCCLUSION IN OTHERWISE HEALTHY CHILDREN AND ADOLESCENTS: Association With Multigenetic Variants of Thrombophilia. ( 31095065 )
2019
3
Homozygous Factor V Leiden Thrombophilia in a Patient With Histologically Confirmed Thromboangiitis Obliterans. ( 30792584 )
2019
4
Inherited thrombophilia and the risk of myocardial infarction: current evidence and uncertainties. ( 31025650 )
2019
5
Thrombophilia-Associated Factors in Patients with Spontaneous Osteonecrosis of the Knee. ( 29308659 )
2019
6
Primary Thrombophilia in Mexico XIII: Localization of the Thrombotic Events in Mexican Mestizos With the Sticky Platelet Syndrome. ( 30968703 )
2019
7
Primary Thrombophilia XIV: Worldwide Identification of Sticky Platelet Syndrome. ( 31041794 )
2019
8
Inherited thrombophilia and pregnancy loss. Study of an Argentinian cohort. ( 29523337 )
2019
9
Inherited Thrombophilia and Pregnancy Complications: Should We Test? ( 29864774 )
2019
10
An Electronic Best Practice Alert Based on Choosing Wisely Guidelines Reduces Thrombophilia Testing in the Outpatient Setting. ( 30215176 )
2019
11
Multiplex testing for Factor II and Factor V mutations in thrombophilia: technical verification and clinical validation of the cobas® Factor II and Factor V test. ( 30284176 )
2019
12
Influence of Blood Count, Cardiovascular Risks, Inherited Thrombophilia, and JAK2 V617F Burden Allele on Type of Thrombosis in Patients With Philadelphia Chromosome Negative Myeloproliferative Neoplasms. ( 30301673 )
2019
13
Lower Extremity Free Tissue Transfer in the Setting of Thrombophilia: Analysis of Perioperative Anticoagulation Protocols and Predictors of Flap Failure. ( 30326523 )
2019
14
Comment on "should we screen hereditary thrombophilia testing in patients with provoked/unprovoked venous thromboembolism?" ( 30355458 )
2019
15
Utility of thrombophilia screening in pediatric renal transplant recipients. ( 30381880 )
2019
16
Pulmonary thromboendarterectomy in a combined thrombophilia patient. ( 30460973 )
2019
17
Danger of false negative (exclusion) or false positive (diagnosis) for 'congenital thrombophilia' in the age of anticoagulants. ( 30485173 )
2019
18
Thrombophilia screening and thromboprophylaxis may benefit specific ethnic subgroups with paediatric acute lymphoblastic leukaemia. ( 30632137 )
2019
19
Erratum: Inherited Thrombophilia and Pregnancy Complications: Should We Test? ( 30669158 )
2019
20
Recurrent stroke: the role of thrombophilia in a large international pediatric stroke population. ( 30679327 )
2019
21
Direct oral anticoagulants in patients with venous thromboembolism and thrombophilia: a systematic review and meta-analysis. ( 30690830 )
2019
22
Laboratory Diagnostics in Thrombophilia. ( 30703819 )
2019
23
Thrombophilia, risk factors and prevention. ( 30773075 )
2019
24
The forgotten urinalysis: an integral part of unmasking thrombophilia. ( 30788075 )
2019
25
Genetic risk assessment of thrombophilia in patients with adverse obstetric outcomes. ( 30811416 )
2019
26
Direct Oral Anticoagulants in Patients with Venous Thromboembolism and Thrombophilia: A systematic review and Meta-analysis: Comment. ( 30849203 )
2019
27
Warfarin dose requirement in patients having severe thrombosis or thrombophilia. ( 30933373 )
2019
28
Therapeutic Implications of Inherited Thrombophilia in Pregnancy. ( 30985485 )
2019
29
Determination of Circulating Endothelial Cells and Endothelial Progenitor Cells Using Multicolor Flow Cytometry in Patients with Thrombophilia. ( 30995655 )
2019
30
Follow-up to Response on "Direct Oral Anticoagulants in Patients with Venous Thromboembolism and Thrombophilia: Systematic Review and Meta-Analysis". ( 31009157 )
2019
31
Clinical utility of thrombophilia, anticoagulant treatment and maternal variables as predictors of placenta-mediated pregnancy complications: an extensive analysis. ( 31018724 )
2019
32
Thrombosis in Children: Approach to Anatomic Risks, Thrombophilia, Prevention, and Treatment. ( 31030812 )
2019
33
Searching for genetic variants associated with thrombophilia. ( 31046389 )
2019
34
Recurrent Miscarriage and Implantation Failure of Unknown Cause Studied by a Panel of Thrombophilia Conditions: Increased Frequency of FXIII Val34Leu Polymorphism. ( 31058051 )
2019
35
Inherited thrombophilia in unprovoked venous thromboembolism: Is non 'O' blood group an additional culprit in Indian patients? ( 31065183 )
2019
36
The obstetric complications in women with hereditary thrombophilia. ( 31086835 )
2019
37
Role of thrombophilia in splanchnic venous thrombosis in acute pancreatitis. ( 29720864 )
2018
38
Direct oral anticoagulant use in patients with thrombophilia, antiphospholipid syndrome or venous thrombosis of unusual sites: A narrative review. ( 29402471 )
2018
39
Frequency and characteristics associated with inherited thrombophilia in patients with intracranial dural arteriovenous fistula. ( 29624150 )
2018
40
Strengthening the Case for the Role of Thrombophilia in Calciphylaxis. ( 29955772 )
2018
41
Strengthening the Case for the Role of Thrombophilia in Calciphylaxis. ( 29955798 )
2018
42
Conservative management of neonatal cerebral sinovenous thrombosis with coexisting thrombophilia. ( 29708897 )
2018
43
A Giant Right Heart Thrombus-in-Transit: The Challenge of Anticoagulation in Factor V Leiden Thrombophilia. ( 30363672 )
2018
44
Blocking Properdin Prevents Complement-Mediated Hemolytic Uremic Syndrome and Systemic Thrombophilia. ( 29858280 )
2018
45
The association between otogenic lateral sinus thrombosis and thrombophilia - A long-term follow-up. ( 29530427 )
2018
46
Migraine with aura and screening for biological thrombophilia. ( 29175257 )
2018
47
Bilateral thalamic stroke in patient with patent foramen ovale and hereditary thrombophilia. ( 30701817 )
2018
48
Gastrointestinal: Duodenal variceal bleeding secondary to thrombophilia-related portal vein thrombosis. ( 29372608 )
2018
49
Congenital Thrombophilia in Patients With Superior Mesenteric Venous Thrombosis or Portal Vein Thrombosis. ( 29747524 )
2018
50
Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report. ( 30397603 )
2018
Sources

Variations for Thrombophilia

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Copy number variations for Thrombophilia from CNVD:

7
# CNVD ID Chromosom 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:

# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 67
Show member pathways
 13.16 APOH F11 F2 F3 F5 F8
2
Collagen chain trimerization 67
Show member pathways
 12.68 F11 F2 F3 F5 F8 F9
3
Cell surface interactions at the vascular wall 67
Show member pathways
 12.02 F2 PROC PROCR PROS1 THBD
4
Complement and coagulation cascades 1 38
11.94 F11 F2 F3 F5 F8 F9
5
Gamma carboxylation, hypusine formation and arylsulfatase activation 67
Show member pathways
 11.77 F2 F9 PROC PROS1
6
AGE-RAGE signaling pathway in diabetic complications 38
11.71 F3 JAK2 SERPINE1 THBD
7
Formation of Fibrin Clot (Clotting Cascade) 67
Show member pathways
 11.67 F11 F2 F3 F5 F8 F9
8
Warfarin Pathway, Pharmacodynamics 62
10.8 F2 F9 PROC PROS1
9
Dissolution of Fibrin Clot 67
10.57 HRG SERPINE1
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 cell surface GO:0009986 9.89 APOH F3 HRG PROCR THBD
2 collagen-containing extracellular matrix GO:0062023 9.85 APOH F3 HRG SERPINC1 SERPINE1 VWF
3 extracellular region GO:0005576 9.83 APOH F11 F2 F3 F5 F8
4 endoplasmic reticulum lumen GO:0005788 9.8 F2 F5 F8 F9 PROC SERPINC1
5 blood microparticle GO:0072562 9.76 F2 HRG PROS1 SERPINC1
6 Golgi lumen GO:0005796 9.71 F2 F9 PROC PROS1
7 platelet alpha granule lumen GO:0031093 9.63 F5 F8 HRG PROS1 SERPINE1 VWF
8 platelet alpha granule GO:0031091 9.48 F5 VWF
9 extracellular space GO:0005615 9.47 APOH F11 F2 F3 F5 F8
10 plasma membrane GO:0005886 10.25 F11 F2 F3 F5 F8 F9
11 extracellular exosome GO:0070062 10.06 APOH F11 F2 F9 HRG PROCR

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.95 APOH F5 F8 HRG PROS1 SERPINE1
2 ER to Golgi vesicle-mediated transport GO:0006888 9.93 F2 F5 F8 F9 PROC PROS1
3 cellular protein metabolic process GO:0044267 9.91 F2 F5 PROC SERPINC1 SERPIND1
4 post-translational protein modification GO:0043687 9.88 F5 PROC SERPINC1 SERPIND1
5 negative regulation of endopeptidase activity GO:0010951 9.88 HRG PROS1 SERPINC1 SERPIND1 SERPINE1
6 platelet activation GO:0030168 9.83 F2 F8 HRG VWF
7 blood coagulation GO:0007596 9.83 F11 F2 F3 F5 F8 F9
8 negative regulation of blood coagulation GO:0030195 9.77 APOH PROC PROS1 SERPINE1 THBD
9 negative regulation of peptidase activity GO:0010466 9.75 SERPINC1 SERPIND1 SERPINE1
10 fibrinolysis GO:0042730 9.73 F2 HRG PROS1 SERPINE1
11 regulation of blood coagulation GO:0030193 9.72 APOH F11 F2 HRG SERPINC1
12 positive regulation of blood coagulation GO:0030194 9.67 APOH F2 SERPINE1
13 negative regulation of fibrinolysis GO:0051918 9.65 APOH F2 HRG SERPINE1 THBD
14 blood coagulation, intrinsic pathway GO:0007597 9.63 APOH F11 F2 F8 F9 VWF
15 plasminogen activation GO:0031639 9.57 APOH F11
16 negative regulation of cell adhesion mediated by integrin GO:0033629 9.56 HRG SERPINE1
17 negative regulation of platelet activation GO:0010544 9.55 F2 THBD
18 negative regulation of coagulation GO:0050819 9.54 PROC PROCR
19 hemostasis GO:0007599 9.47 F11 F2 F3 F5 F8 F9

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.85 F2 F9 PROC PROS1 THBD
2 serine-type peptidase activity GO:0008236 9.67 F11 F2 F9 PROC
3 serine-type endopeptidase activity GO:0004252 9.65 F11 F2 F3 F9 PROC
4 peptidase inhibitor activity GO:0030414 9.58 SERPINC1 SERPIND1 SERPINE1
5 protease binding GO:0002020 9.46 F3 SERPINC1 SERPINE1 VWF
6 immunoglobulin binding GO:0019865 9.32 HRG VWF
7 serine-type endopeptidase inhibitor activity GO:0004867 9.26 HRG SERPINC1 SERPIND1 SERPINE1
8 heparin binding GO:0008201 9.1 APOH F11 F2 HRG SERPINC1 SERPIND1
9 protein binding GO:0005515 10.31 APOH F11 F2 F3 F5 F8
Sources

Sources for Thrombophilia

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3 CDC
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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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