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

Aliases & Classifications for Thrombophilia

MalaCards integrated aliases for Thrombophilia:

Name: Thrombophilia 12 56 45 15 41 17 74 3
Hypercoagulability State 12


External Ids:

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

Summaries for Thrombophilia

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, endothelial and placenta, and related phenotypes are cardiovascular system and homeostasis/metabolism

Wikipedia : 77 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
Prothrombin-Related Thrombophilia

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

(show top 50) (show all 336)
# Related Disease Score Top Affiliating Genes
1 antithrombin iii deficiency 33.2 APOH F2 F5 MTHFR SERPINC1
2 protein c deficiency 32.5 F2 F5 F9 HRG MTHFR PROC
3 budd-chiari syndrome 31.5 APOH F2 F3 F5 MTHFR SERPINC1
4 thrombophilia due to activated protein c resistance 31.4 APOH F2 F3 F5 F8 F9
5 protein s deficiency 31.4 APOH F2 F3 F5 MTHFR PROS1
6 livedoid vasculitis 31.3 APOH F2 F8 MTHFR SERPINC1 SERPINE1
7 thrombophilia due to thrombin defect 30.8 APOH F2 F3 F5 F8 MTHFR
8 osteonecrosis 30.6 F2 MTHFR SERPINC1 SERPINE1
9 antiphospholipid syndrome 30.6 APOH F2 F3 F5 MTHFR SERPINC1
10 eclampsia 30.5 F2 MTHFR SERPINC1 THBD
11 hemoglobin e disease 30.4 F2 F5
12 sticky platelet syndrome 30.4 F5 SERPINC1 SERPINE1
13 cerebral palsy 30.3 F2 F5 MTHFR
14 amaurosis fugax 30.3 F5 MTHFR SERPINE1
15 placenta disease 30.2 APOH F3 F5 MTHFR SERPINC1
16 nonarteritic anterior ischemic optic neuropathy 30.1 F2 F5 MTHFR SERPINC1
17 homocystinuria 30.1 F5 MTHFR SERPINC1
18 patent foramen ovale 30.1 APOH F2 F5 MTHFR SERPINC1
19 coronary artery anomaly 30.1 F2 F5 SERPINE1
20 severe pre-eclampsia 30.1 APOH F5 SERPINC1
21 lateral sinus thrombosis 30.1 F9 MTHFR
22 arteritic anterior ischemic optic neuropathy 30.0 F2 F5 MTHFR
23 thrombocytosis 30.0 F2 F3 SERPINC1
24 porencephaly 30.0 F2 F5 MTHFR
25 neonatal stroke 30.0 MTHFR PROC SERPINE1
26 retinal vein occlusion 30.0 APOH F2 F5 MTHFR SERPINC1 SERPINE1
27 endocarditis 29.9 APOH F2 SERPINC1
28 retinal vascular occlusion 29.9 APOH F2 F5 MTHFR SERPINC1
29 central retinal vein occlusion 29.9 APOH F2 F5 MTHFR SERPINC1
30 ischemic optic neuropathy 29.9 APOH F2 F5 MTHFR SERPINC1
31 portal vein thrombosis 29.8 APOH F2 F5 MTHFR SERPINC1 SERPINE1
32 legg-calve-perthes disease 29.8 APOH F5 SERPINC1 SERPINE1 THBD
33 buerger disease 29.8 APOH F2 MTHFR SERPINE1
34 post-thrombotic syndrome 29.8 F2 F5 F8 SERPINC1 SERPINE1
35 hemolytic-uremic syndrome 29.8 F3 THBD VWF
36 infective endocarditis 29.8 APOH F2 SERPINE1
37 dysfibrinogenemia 29.7 F2 F5 SERPINC1 SERPIND1 THBD
38 cerebral sinovenous thrombosis 29.7 APOH F2 F3 F5 PROS1
39 blood coagulation disease 29.7 F2 F3 F5 F8 F9 MTHFR
40 placental abruption 29.7 APOH F2 F5 MTHFR SERPINC1 THBD
41 acute myocardial infarction 29.7 F3 SERPINC1 SERPINE1 VWF
42 catastrophic antiphospholipid syndrome 29.6 APOH F3 F5 MTHFR PROC SERPINE1
43 vasculitis 29.6 APOH THBD VWF
44 varicose veins 29.6 F2 F5 MTHFR SERPINC1 VWF
45 lemierre's syndrome 29.5 F11 F3 MTHFR SERPINE1
46 venous insufficiency 29.4 F2 SERPINE1 VWF
47 factor xii deficiency 29.2 APOH F3 F5 F9 SERPINC1
48 marantic endocarditis 29.2 F2 F3 MTHFR PROC SERPINC1 THBD
49 branch retinal artery occlusion 29.2 APOH F2 F3 MTHFR SERPINC1
50 arteries, anomalies of 29.2 F3 SERPINC1 SERPINE1 VWF

Graphical network of the top 20 diseases related to Thrombophilia:

Diseases related to Thrombophilia

Symptoms & Phenotypes for Thrombophilia

MGI Mouse Phenotypes related to Thrombophilia:

# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.27 F11 F2 F3 F5 F9 PROC
2 homeostasis/metabolism MP:0005376 10.27 APOH F11 F2 F3 F5 F8
3 hematopoietic system MP:0005397 10.22 F11 F2 F3 F8 F9 PROC
4 immune system MP:0005387 10.06 F11 F2 F3 F8 F9 PROC
5 embryo MP:0005380 10.03 F2 F3 F5 F9 PROCR PROS1
6 mortality/aging MP:0010768 9.86 APOH F11 F2 F3 F5 F8
7 liver/biliary system MP:0005370 9.81 F11 F5 F9 MTHFR PROC PROS1
8 integument MP:0010771 9.8 F2 F3 F5 MTHFR PROS1 SERPINE1
9 nervous system MP:0003631 9.32 F11 F2 F3 F5 MTHFR PROC

Drugs & Therapeutics for Thrombophilia

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
Heparin Approved, Investigational Phase 4,Phase 3,Not Applicable 9005-49-6 772 46507594
Dalteparin Approved Phase 4,Phase 3,Not Applicable 9005-49-6
Enoxaparin Approved Phase 4,Phase 3,Phase 2,Not Applicable 9005-49-6 772
Aspirin Approved, Vet_approved Phase 4,Phase 3,Not Applicable 50-78-2 2244
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
Rivaroxaban Approved Phase 4,Phase 3,Not Applicable 366789-02-8
tannic acid Approved Phase 4,Phase 3 1401-55-4
Benzocaine Approved, Investigational Phase 4,Phase 3 94-09-7, 1994-09-7 2337
Estradiol Approved, Investigational, Vet_approved Phase 4,Not Applicable 50-28-2 5757
Polyestradiol phosphate Approved Phase 4,Not Applicable 28014-46-2
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
Megestrol acetate Approved, Investigational, Vet_approved Phase 4 595-33-5 11683
Calcium Approved, Nutraceutical Phase 4,Phase 3,Not Applicable 7440-70-2 271
Serine Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 56-45-1 5951
Choline Approved, Nutraceutical Phase 4 62-49-7 305
Sarpogrelate Investigational Phase 4 125926-17-2 5160
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 Heparin, Low-Molecular-Weight Phase 4,Phase 3,Not Applicable
21 Anticoagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
22 Micronutrients Phase 4,Phase 3,Not Applicable
23 Trace Elements Phase 4,Phase 3,Not Applicable
24 Nutrients Phase 4,Phase 3,Not Applicable
25 Calcium, Dietary Phase 4,Phase 3,Not Applicable
26 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Not Applicable
27 Antipyretics Phase 4,Phase 3,Not Applicable
28 Cyclooxygenase Inhibitors Phase 4,Phase 3,Not Applicable
29 Anti-Inflammatory Agents Phase 4,Phase 3,Not Applicable
30 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
31 Analgesics Phase 4,Phase 3,Phase 2,Not Applicable
32 Analgesics, Non-Narcotic Phase 4,Phase 3,Not Applicable
33 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
35 Factor Xa Inhibitors Phase 4,Phase 2,Phase 3
36 Serine Proteinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
37 Antithrombin III Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
38 Antibodies Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
40 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
41 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
43 Antithrombins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
44 Antibodies, Antiphospholipid Phase 4,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 Phase 4,Phase 3,Phase 2,Not Applicable
49 Contraceptive Agents Phase 4,Not Applicable
50 Contraceptives, Oral Phase 4

Interventional clinical trials:

(show top 50) (show all 271)
# 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 Study of Recombinant Factor IX Product, IB1001, in Previously Treated Pediatric Subjects With Hemophilia B Completed NCT01271868 Phase 3
33 N-Acetylcysteine in Patients With Sickle Cell Disease Completed NCT01849016 Phase 3 N-Acetylcysteine;Placebo
34 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
35 Recombinant Human Antithrombin (rhAT) in Patients With Hereditary Antithrombin Deficiency Undergoing Surgery or Delivery Completed NCT00110513 Phase 3
36 Study of Recombinant Factor IX Product, IB1001, in Subjects With Hemophilia B Completed NCT00768287 Phase 2, Phase 3
37 Phase III Trial With Caplacizumab in Patients With Acquired Thrombotic Thrombocytopenic Purpura Completed NCT02553317 Phase 3
38 Study of Cyclosporine or Corticosteroids as an Adjunct to Plasma Exchange in Thrombotic Thrombocytopenic Purpura (TTP) Completed NCT00713193 Phase 3 Cyclosporine;Prednisone
39 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
40 Hydroxychloroquine for Prevention of Recurrent Miscarriage. Recruiting NCT03165136 Phase 3 Hydroxychloroquine;Placebo
41 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
42 Esomeprazole for the Prevention of Preeclampsia Recruiting NCT03717740 Phase 3 Esomeprazole;Placebo
43 HOPE-B: Trial of AMT-061 in Severe or Moderately Severe Hemophilia B Patients Recruiting NCT03569891 Phase 3
44 Xarelto Versus no Treatment for the Prevention of Recurrent Thrombosis in Patients With Chronic Portal Vein Thrombosis. Active, not recruiting NCT02555111 Phase 3 Xarelto
45 Safety, Pharmacokinetics and Efficacy of an AT-III Concentrate. Active, not recruiting NCT00319228 Phase 2, Phase 3 Plasma-derived AT-III concentrate
46 A Phase 3, Randomized, Controlled Study of Prophylactic and On-demand Treatment of cTTP With BAX 930 (rADAMTS13) Active, not recruiting NCT03393975 Phase 3
47 Follow-up Study for Patients Who Completed Study ALX0681-C301 (Post-HERCULES) Active, not recruiting NCT02878603 Phase 3
48 Magnesium Sulfate in Thrombotic Thrombocytopenic Purpura in Intensive Care Not yet recruiting NCT03237819 Phase 3 Sulfate, Magnesium;Placebo - Concentrate
49 Prevention of Unexplained Recurrent Abortion by Enoxaparine Terminated NCT00740545 Phase 3 enoxaparine 40 mg daily;placebo
50 Weight Adjusted Low Molecular Weight Heparin in Recurrent Implantation Failure: a Randomized Open Labeled Trial Terminated NCT02991950 Phase 3 Parnaparin Sodium

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:

Testes, Endothelial, Placenta, Kidney, Bone, Thyroid, Brain

Publications for Thrombophilia

Articles related to Thrombophilia:

(show top 50) (show all 1736)
# Title Authors Year
High detection rates of antithrombin deficiency and antiphospholipid syndrome in outpatients aged over 50 years using the standardized protocol for thrombophilia screening. ( 30780006 )
Homozygous Factor V Leiden Thrombophilia in a Patient With Histologically Confirmed Thromboangiitis Obliterans. ( 30792584 )
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 )
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 )
Utility of thrombophilia screening in pediatric renal transplant recipients. ( 30381880 )
Presence of thrombophilia and levels of coagulation factors, coagulation inhibitors and TAFI do not affect global haemostasis or bleeding phenotype in patients with haemophilia A. ( 30447478 )
Thrombophilia screening and thromboprophylaxis may benefit specific ethnic subgroups with paediatric acute lymphoblastic leukaemia. ( 30632137 )
Erratum: Inherited Thrombophilia and Pregnancy Complications: Should We Test? ( 30669158 )
Recurrent stroke: the role of thrombophilia in a large international pediatric stroke population. ( 30679327 )
Direct Oral Anticoagulants in Patients with Venous Thromboembolism and Thrombophilia: A Systematic Review and Meta-Analysis. ( 30690830 )
Laboratory Diagnostics in Thrombophilia. ( 30703819 )
Thrombophilia, risk factors and prevention. ( 30773075 )
The forgotten urinalysis: an integral part of unmasking thrombophilia. ( 30788075 )
Genetic risk assessment of thrombophilia in patients with adverse obstetric outcomes. ( 30811416 )
Direct Oral Anticoagulants in Patients with Venous Thromboembolism and Thrombophilia: A systematic review and Meta-analysis: Comment. ( 30849203 )
Blocking Properdin Prevents Complement-Mediated Hemolytic Uremic Syndrome and Systemic Thrombophilia. ( 29858280 )
Association between thrombophilia gene polymorphisms and recurrent pregnancy loss risk in the Iranian population. ( 29658346 )
Congenital Thrombophilia in Patients With Superior Mesenteric Venous Thrombosis or Portal Vein Thrombosis. ( 29747524 )
Conservative management of neonatal cerebral sinovenous thrombosis with coexisting thrombophilia. ( 29708897 )
Can thrombophilia predict recurrent catheter-related deep vein thrombosis in children? ( 29724900 )
Direct oral anticoagulant use in patients with thrombophilia, antiphospholipid syndrome or venous thrombosis of unusual sites: A narrative review. ( 29402471 )
Mesoaortic compression of a left-sided inferior vena-cava presenting as recurrent pulmonary embolism in a child-a novel anatomic thrombophilia? ( 29350462 )
Strengthening the Case for the Role of Thrombophilia in Calciphylaxis. ( 29955798 )
Strengthening the Case for the Role of Thrombophilia in Calciphylaxis. ( 29955772 )
Inherited Thrombophilia and Pregnancy Complications: Should We Test? ( 29864774 )
Do hospital doctors test for thrombophilia in patients with venous thromboembolism? ( 29922879 )
Role of thrombophilia in splanchnic venous thrombosis in acute pancreatitis. ( 29720864 )
Maternal Thrombophilia and Recurrent Miscarriage - Is There Evidence That Heparin is Indicated as Prophylaxis against Recurrence? ( 29576632 )
Thrombophilia-Associated Factors in Patients with Spontaneous Osteonecrosis of the Knee. ( 29308659 )
Myocardial infarction and thrombophilia: Do not miss the right diagnosis! ( 29254740 )
The association between otogenic lateral sinus thrombosis and thrombophilia - A long-term follow-up. ( 29530427 )
High-Mobility Group Box 1 From Hypoxic Trophoblasts Promotes Endothelial Microparticle Production and Thrombophilia in Preeclampsia. ( 29650693 )
Thrombophilia and Recurrent Pregnancy Loss: The Enigma Continues. ( 29932168 )
Frequency and characteristics associated with inherited thrombophilia in patients with intracranial dural arteriovenous fistula. ( 29624150 )
Hereditary thrombophilia in trauma patients with venous thromboembolism: Is routine screening necessary? ( 29194315 )
Gastrointestinal: Duodenal variceal bleeding secondary to thrombophilia-related portal vein thrombosis. ( 29372608 )
The authors respond to "Thrombophilia testing in venous thromboembolism". ( 29440340 )
Detection of high-risk thrombophilia with an automated, global test: the Coagulation Inhibitor Potential assay. ( 29782332 )
Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia. ( 29374276 )
Inpatient thrombophilia testing: Impact of healthcare system technology and targeted clinician education on changing practice patterns. ( 29153040 )
Correction: Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia. ( 29980747 )
Thromboprophylaxis in pregnant women with thrombophilia and a history of thrombosis. ( 29949514 )
Neonatal Arterial Ischemic Stroke: Risk Related to Family History, Maternal Diseases, and Genetic Thrombophilia. ( 29108421 )
Effects of multiple inherited and acquired thrombophilia on outcomes of in-vitro fertilization. ( 29772490 )
Thrombophilia testing in venous thromboembolism. ( 29440339 )
Activated Factor X-Based versus Thrombin-Based Antithrombin Testing in Thrombophilia Workup in the DOAC Era. ( 29378360 )
Amputees at High Altitude: The Potentially Sticky Issue of Thrombophilia. ( 29717894 )
A Giant Right Heart Thrombus-in-Transit: The Challenge of Anticoagulation in Factor V Leiden Thrombophilia. ( 30363672 )
Bilateral thalamic stroke in patient with patent foramen ovale and hereditary thrombophilia. ( 30701817 )
Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report. ( 30397603 )

Variations for Thrombophilia

Copy number variations for Thrombophilia from CNVD:

# CNVD ID Chromosom 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
Show member pathways
13.14 APOH F11 F2 F3 F5 F8
Show member pathways
12.68 F11 F2 F3 F5 F8 F9
Show member pathways
4 11.94 F11 F2 F3 F5 F8 F9
Show member pathways
11.74 F2 F9 PROC PROS1
Show member pathways
11.67 F11 F2 F3 F5 F8 F9
7 11.63 F3 SERPINE1 THBD
8 10.8 F2 F9 PROC PROS1
9 10.55 HRG SERPINE1

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 cell surface GO:0009986 9.88 APOH F3 HRG PROCR THBD
2 collagen-containing extracellular matrix GO:0062023 9.85 APOH F3 HRG SERPINC1 SERPINE1 VWF
3 endoplasmic reticulum lumen GO:0005788 9.8 F2 F5 F8 F9 PROC SERPINC1
4 extracellular space GO:0005615 9.8 APOH F11 F2 F3 F5 F8
5 blood microparticle GO:0072562 9.73 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 extracellular region GO:0005576 9.5 APOH F11 F2 F3 F5 F8
9 platelet alpha granule GO:0031091 9.49 F5 VWF
10 plasma membrane GO:0005886 10.23 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 9.8 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 9.76 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 9.83 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

Sources for Thrombophilia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
33 HPO
34 ICD10
35 ICD10 via Orphanet
39 LifeMap
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
56 Novoseek
59 OMIM via Orphanet
63 PubMed
71 SNOMED-CT via Orphanet
73 Tocris
75 UMLS via Orphanet
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