MCID: THR015
MIFTS: 58

Thrombophilia

Categories: Rare diseases, Blood diseases, Genetic diseases

Aliases & Classifications for Thrombophilia

MalaCards integrated aliases for Thrombophilia:

Name: Thrombophilia 12 28 51 3 41 14 69
Hypercoagulability State 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2452
ICD10 32 D68.59
MeSH 41 D019851
NCIt 46 C84479
UMLS 69 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 F2 (Coagulation Factor II, Thrombin), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Dalteparin and Heparin have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and heart, and related phenotypes are homeostasis/metabolism and cardiovascular system

Wikipedia : 72 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

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

(show top 50) (show all 280)
# Related Disease Score Top Affiliating Genes
1 antithrombin iii deficiency 33.7 APOH F2 F5 MTHFR SERPINC1
2 protein c deficiency 33.1 F2 F5 F9 HRG MTHFR PROC
3 thrombophilia due to activated protein c resistance 33.0 APOH F2 F3 F5 F8 F9
4 livedoid vasculopathy 32.4 APOH F2 F5 MTHFR SERPINE1
5 protein s deficiency 32.1 APOH F2 F3 F5 MTHFR PROS1
6 antiphospholipid syndrome 32.1 APOH F2 F3 F5 MTHFR SERPINC1
7 budd-chiari syndrome 32.0 APOH F2 F3 F5 JAK2 MTHFR
8 thrombophilia due to thrombin defect 31.7 APOH F13A1 F2 F3 F5 F8
9 osteonecrosis 30.9 F2 MTHFR SERPINC1 SERPINE1
10 blood coagulation disease 30.8 F2 F3 F5 F8 F9 JAK2
11 sticky platelet syndrome 30.7 F5 SERPINC1 SERPINE1
12 eclampsia 30.6 F2 F5 MTHFR SERPINC1 THBD
13 amaurosis fugax 30.6 F5 MTHFR SERPINE1
14 retinal vein occlusion 30.5 APOH F2 F5 MTHFR SERPINC1 SERPINE1
15 nonarteritic anterior ischemic optic neuropathy 30.5 F2 F5 MTHFR SERPINC1
16 retinal vascular occlusion 30.5 APOH F2 F5 MTHFR SERPINC1
17 central retinal vein occlusion 30.5 APOH F2 F5 MTHFR SERPINC1
18 ischemic optic neuropathy 30.4 APOH F2 F5 MTHFR SERPINC1
19 post-thrombotic syndrome 30.4 F2 F5 F8 SERPINC1 SERPINE1
20 catastrophic antiphospholipid syndrome 30.4 APOH F3 F5 MTHFR PROC SERPINE1
21 pulmonary embolism 30.4 APOH F2 F3 F5 F9 MTHFR
22 homocystinuria 30.4 F5 MTHFR SERPINC1
23 legg-calve-perthes disease 30.3 F5 SERPINC1 SERPINE1 THBD
24 placental abruption 30.3 APOH F2 F5 MTHFR SERPINC1 THBD
25 acute myocardial infarction 30.3 F3 SERPINC1 SERPINE1 VWF
26 porencephaly 30.3 F2 F5 MTHFR
27 portal vein thrombosis 30.2 APOH F2 F5 JAK2 MTHFR SERPINC1
28 arteritic anterior ischemic optic neuropathy 30.2 F2 F5 MTHFR
29 varicose veins 30.2 F2 F5 MTHFR SERPINC1 VWF
30 patent foramen ovale 30.2 APOH F13A1 F2 F5 MTHFR SERPINC1
31 cerebral sinovenous thrombosis 30.2 APOH F2 F3 F5 PROS1
32 infective endocarditis 30.2 APOH F2 SERPINE1
33 lemierre's syndrome 30.1 F3 MTHFR SERPINE1
34 endocarditis 30.1 APOH F2 SERPINC1
35 buerger disease 30.1 APOH F2 MTHFR SERPINE1
36 venous insufficiency 30.1 F2 SERPINE1 VWF
37 hemophilia 30.0 F2 F3 F8 F9 VWF
38 vasculitis 30.0 APOH THBD VWF
39 thrombocytosis 30.0 F2 F3 JAK2 SERPINC1
40 arteries, anomalies of 30.0 F2 F3 MTHFR SERPINC1 SERPINE1 VWF
41 thrombosis 30.0 APOH F2 F3 F5 F9 HRG
42 hemophilia a 29.9 F3 F5 F8 F9 VWF
43 branch retinal artery occlusion 29.9 APOH F2 F3 MTHFR SERPINC1
44 coronary thrombosis 29.9 F3 SERPINC1 SERPINE1 VWF
45 factor xii deficiency 29.9 APOH F3 F5 F9 SERPINC1
46 thrombotic thrombocytopenic purpura 29.9 APOH F3 THBD VWF
47 retinal artery occlusion 29.9 APOH F2 F5 F8 MTHFR SERPINC1
48 factor xi deficiency 29.8 F2 F3 F8 F9 SERPINC1
49 cerebrovascular disease 29.8 F2 F5 MTHFR SERPINE1 VWF
50 pre-eclampsia 29.8 APOH F2 F3 F5 MTHFR SERPINC1

Graphical network of the top 20 diseases related to Thrombophilia:



Diseases related to Thrombophilia

Symptoms & Phenotypes for Thrombophilia

MGI Mouse Phenotypes related to Thrombophilia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.35 F2 FGG F3 HABP2 JAK2 F5
2 cardiovascular system MP:0005385 10.3 F9 F2 FGG F3 F5 F13A1
3 hematopoietic system MP:0005397 10.28 F9 F2 FGG F3 JAK2 F8
4 embryo MP:0005380 10.13 F9 F2 FGG F3 F5 PROCR
5 immune system MP:0005387 10.13 F9 F2 FGG F3 HABP2 JAK2
6 mortality/aging MP:0010768 9.93 F9 F2 FGG F3 HABP2 JAK2
7 integument MP:0010771 9.86 F2 F3 F5 SERPINE1 THBD PROS1
8 liver/biliary system MP:0005370 9.81 F9 HABP2 F5 JAK2 PROC SERPINE1
9 respiratory system MP:0005388 9.17 F13A1 F2 FGG F3 PROC SERPINE1

Drugs & Therapeutics for Thrombophilia

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

(show top 50) (show all 215)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dalteparin Approved Phase 4,Phase 3 9005-49-6
2
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 46507594 772
3
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
4
Thrombin Approved, Investigational Phase 4,Phase 2,Phase 3,Early Phase 1
5
Iron Approved Phase 4 7439-89-6 23925
6
Rivaroxaban Approved Phase 4,Phase 3 366789-02-8
7
Benzocaine Approved, Investigational Phase 4,Phase 3 1994-09-7, 94-09-7 2337
8
Choline Approved, Nutraceutical Phase 4 62-49-7 305
9 tannic acid Approved, Nutraceutical Phase 4,Phase 3
10 Anticoagulants Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
11 calcium heparin Phase 4,Phase 3
12 Fibrinolytic Agents Phase 4,Phase 3,Phase 2
13 Heparin, Low-Molecular-Weight Phase 4,Phase 3
14 Micronutrients Phase 4,Phase 3
15 Trace Elements Phase 4,Phase 3
16 Calcium, Dietary Phase 4,Phase 3
17 Antibodies Phase 4,Phase 3,Phase 2,Phase 1
18 Antibodies, Antiphospholipid Phase 4,Phase 3
19 Antithrombin III Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
20 Antithrombins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
21 Factor Xa Inhibitors Phase 4,Phase 3
22 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
23 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1
24
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
25 Serine Proteinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
26 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
27 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
28 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
29 Analgesics Phase 4,Phase 3,Phase 2
30 Analgesics, Non-Narcotic Phase 4,Phase 3
31 Anti-Inflammatory Agents Phase 4,Phase 3
32 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3
33 Antipyretics Phase 4,Phase 3
34 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
35 Cyclooxygenase Inhibitors Phase 4,Phase 3
36 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
37 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
38 Factor VIII Phase 4,Phase 1,Phase 2
39 Anti-Infective Agents Phase 4,Phase 3,Early Phase 1
40 Lactoferrin Phase 4
41 Adrenergic Agents Phase 4,Phase 2
42 Adrenergic Agonists Phase 4
43 Adrenergic beta-2 Receptor Agonists Phase 4
44 Adrenergic beta-Agonists Phase 4
45 Albuterol Phase 4
46 Anti-Asthmatic Agents Phase 4,Phase 2
47 Autonomic Agents Phase 4,Phase 2
48 Bronchodilator Agents Phase 4,Phase 2
49 Respiratory System Agents Phase 4,Phase 3,Phase 2,Early Phase 1
50 Tocolytic Agents Phase 4,Phase 3

Interventional clinical trials:

(show top 50) (show all 234)

# 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 Guilford Genomic Medicine Initiative (GGMI) Completed NCT01372553 Phase 4
6 Implantation Failure and PGD Completed NCT00547781 Phase 4
7 Investigation of Coagulation Parameters in Hereditary Haemorrhagic Telangiectasia Completed NCT00230659 Phase 4
8 Coagulation Profile in Patients Undergoing Video Assisted Thorascopic Surgery (VATS) for Lung Cancer Completed NCT01741506 Phase 4 Dalteparin (Fragmin®)
9 Rivaroxaban for Antiphospholipid Antibody Syndrome Completed NCT02116036 Phase 4 Rivaroxaban
10 Nebulized Heparin and Salbutamol in Mechanically Ventilated Patients With AECOPD Completed NCT03333395 Phase 4 Nebulized heparin and salbutamol;Nebulized salbutamol
11 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
12 Clinical Pharmacokinetics Study of ART-123 in Disseminated Intravascular Coagulation (DIC) Subjects With Renal Impairment Completed NCT01704001 Phase 4 ART-123
13 Diagnosis and Treatment Strategy of Recurrent Spontaneous Abortion Associated With Thrombophilla Recruiting NCT02986594 Phase 4 Aspirin;Heparin
14 Aspirin and Enoxaparin for VTE in Trauma Recruiting NCT02396732 Phase 4 Aspirin;Enoxaparin
15 Safety Study of Alphanate in Previously Treated Patients With Severe Hemophilia A Recruiting NCT00323856 Phase 4 Alphanate SD/HT
16 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
17 Response of Recombinant Antithrombin in Heparin Resistant Patients Undergoing Cardiac Surgery Terminated NCT01547728 Phase 4 Recombinant antithrombin (rhAT)
18 LMWH to Prevent Preeclampsia and Fetal Growth Restriction Terminated NCT00260520 Phase 4 Dalteparin
19 Atenativ Effect on Uterine Blood Flow and Preeclampsia Withdrawn NCT02278575 Phase 4 Atenativ
20 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)
21 Heparin for Pregnant Women With Thrombophilia Unknown status NCT01019655 Phase 3 Nadroparin calcium
22 ThrombElastoGraphic Haemostatic Status and Antiplatelet Therapy After Coronary Artery Bypass Graft Surgery Unknown status NCT01046942 Phase 3 Clopidogrel+acetylsalicylic acid;acetylsalicylic acid
23 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
24 Effects of the Concentrated Extract of Soy on Coagulation Factors After Menopause Unknown status NCT00925639 Phase 3 Isoflavone;Placebo
25 D-Dimer Guided Oral Anticoagulant Treatment (OAT) Unknown status NCT00895505 Phase 3 Phenprocoumon;Warfarin-Natrium
26 Efficacy and Safety of Unfractionated Heparin on Severe Sepsis With Suspected Disseminated Intravascular Coagulation Unknown status NCT02654561 Phase 3 Heparin Sodium;Saline
27 TIPPS: Thrombophilia in Pregnancy Prophylaxis Study Completed NCT00967382 Phase 3 dalteparin sodium
28 Biomarker Sub Study of the Compression Stockings to Prevent the Post-Thrombotic Syndrome (SOX) Trial Completed NCT01615705 Phase 3
29 Low Weight Heparin prOphylaxis for Placentalā€Mediated Complications of PrEgnancy Completed NCT01388322 Phase 3 Enoxaparin
30 Low Molecular Weight Heparin and/or Aspirin in Prevention of Habitual Abortion Completed NCT00959621 Phase 3 Aspirin;Klexane;Klexane and ASA
31 Vitamins C and Vitamin E and Cardiovascular Risk Completed NCT00362518 Phase 3
32 An Open-label Study of KW-3357 Completed NCT01384903 Phase 3 KW-3357;Plasma-derived antithrombin
33 A Clinical Study of KW-3357 in Patients With DIC Completed NCT01384396 Phase 3 KW-3357
34 Prevention of Maternal and Perinatal Complications by Enoxaparin in Women With Previous Severe Preeclampsia Completed NCT00986765 Phase 3 Lovenox® (enoxaparin);Aspegic ® (Aspirin)
35 Study of Recombinant Factor IX Product, IB1001, in Previously Treated Pediatric Subjects With Hemophilia B Completed NCT01271868 Phase 3 Recombinant factor IX Product, IB1001
36 N-Acetylcysteine in Patients With Sickle Cell Disease Completed NCT01849016 Phase 3 N-Acetylcysteine;Placebo
37 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
38 Recombinant Human Antithrombin (rhAT) in Patients With Hereditary Antithrombin Deficiency Undergoing Surgery or Delivery Completed NCT00110513 Phase 3
39 Study of Recombinant Factor IX Product, IB1001, in Subjects With Hemophilia B Completed NCT00768287 Phase 2, Phase 3
40 Phase III Trial With Caplacizumab in Patients With Acquired Thrombotic Thrombocytopenic Purpura Completed NCT02553317 Phase 3
41 Study of Cyclosporine or Corticosteroids as an Adjunct to Plasma Exchange in Thrombotic Thrombocytopenic Purpura (TTP) Completed NCT00713193 Phase 3 Cyclosporine;Prednisone
42 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
43 Xarelto Versus no Treatment for the Prevention of Recurrent Thrombosis in Patients With Chronic Portal Vein Thrombosis. Recruiting NCT02555111 Phase 3 Xarelto
44 Hydroxychloroquine for Prevention of Recurrent Miscarriage. Recruiting NCT03165136 Phase 3 Hydroxychloroquine;Placebo
45 Effects of Different Doses of Ticagrelor on Platelet Aggregation and Endothelial Function in Diabetic Patients With Stable Coronary Artery Disease Recruiting NCT02889549 Phase 2, Phase 3 ticagrelor;clopidogrel
46 A Study of Rivaroxaban (JNJ-39039039) on the Venous Thromboembolic Risk in Post-Hospital Discharge Patients Recruiting NCT02111564 Phase 3 Rivaroxaban, 10 mg;Rivaroxaban, 7.5 mg;Placebo
47 Safety, Pharmacokinetics and Efficacy of an AT-III Concentrate. Recruiting NCT00319228 Phase 2, Phase 3 Plasma-derived AT-III concentrate
48 A Phase 3, Randomized, Controlled Study of Prophylactic and On-demand Treatment of cTTP With BAX 930 (rADAMTS13) Active, not recruiting NCT03393975 Phase 3
49 Follow-up Study for Patients Who Completed Study ALX0681-C301 (Post-HERCULES) Active, not recruiting NCT02878603 Phase 3
50 Magnesium Sulfate in Thrombotic Thrombocytopenic Purpura in Intensive Care Not yet recruiting NCT03237819 Phase 3 Sulfate, Magnesium;Placebo - Concentrate

Search NIH Clinical Center for Thrombophilia

Cochrane evidence based reviews: thrombophilia

Genetic Tests for Thrombophilia

Genetic tests related to Thrombophilia:

# Genetic test Affiliating Genes
1 Thrombophilia 28 F13A1 F2 HABP2 MTHFR

Anatomical Context for Thrombophilia

MalaCards organs/tissues related to Thrombophilia:

38
Testes, Liver, Heart, Endothelial, Placenta, Lung, Bone

Publications for Thrombophilia

Articles related to Thrombophilia:

(show top 50) (show all 1042)
# Title Authors Year
1
Gastrointestinal: Duodenal variceal bleeding secondary to thrombophilia-related portal vein thrombosis. ( 29372608 )
2018
2
Thrombophilia-Associated Factors in Patients with Spontaneous Osteonecrosis of the Knee. ( 29308659 )
2018
3
Activated Factor X-Based versus Thrombin-Based Antithrombin Testing in Thrombophilia Workup in the DOAC Era. ( 29378360 )
2018
4
Mesoaortic compression of a left-sided inferior vena-cava presenting as recurrent pulmonary embolism in a child-a novel anatomic thrombophilia? ( 29350462 )
2018
5
Myocardial infarction and thrombophilia: Do not miss the right diagnosis! ( 29254740 )
2018
6
The authors respond to "Thrombophilia testing in venous thromboembolism". ( 29440340 )
2018
7
Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia. ( 29374276 )
2018
8
Inpatient thrombophilia testing: Impact of healthcare system technology and targeted clinician education on changing practice patterns. ( 29153040 )
2018
9
Direct oral anticoagulant use in patients with thrombophilia, antiphospholipid syndrome or venous thrombosis of unusual sites: A narrative review. ( 29402471 )
2018
10
Thrombophilia testing in venous thromboembolism. ( 29440339 )
2018
11
Hereditary thrombophilia in trauma patients with venous thromboembolism: Is routine screening necessary? ( 29194315 )
2018
12
Contribution of inherited thrombophilia to recurrent miscarriage in the Polish population. ( 28819944 )
2017
13
An Overview of Thrombophilia and Associated Laboratory Testing. ( 28804823 )
2017
14
Murine systemic thrombophilia and hemolytic uremic syndrome from a factor H point mutation. ( 28057640 )
2017
15
Adverse pregnancy outcomes and inherited thrombophilia. ( 28792912 )
2017
16
Thrombophilia Testing and Venous Thrombosis. ( 29211668 )
2017
17
Stroke diagnosis associated with thrombophilia testing overutilization. ( 28753476 )
2017
18
Thromboembolismpeaking 3 months after starting testosterone therapy: testosterone-thrombophilia interactions. ( 29248890 )
2017
19
Thrombophilia Screening. ( 28049358 )
2017
20
Primary Thrombophilia in MAcxico XI: Activated Protein C Resistance Phenotypes are Multifactorial. ( 28824240 )
2017
21
Thrombophilia Testing and Venous Thrombosis. ( 28930509 )
2017
22
Curtis C, Mineyko A, Massicotte P, et al. Thrombophilia risk is not increased in children after perinatal stroke. Blood. 2017;129(20):2793-2800. ( 28729341 )
2017
23
Impact of thrombophilia screening on venous thromboembolism management practices. ( 27931012 )
2017
24
Donor Selection and Prophylactic Strategy for Venous Thromboembolic Events in Living Donors of Liver Transplantation Based on Results of Thrombophilia Screening Tests. ( 28674378 )
2017
25
Assessment of Hereditary Thrombophilia: Performance of Protein S (PS) Testing. ( 28804826 )
2017
26
Thrombophilia Testing and Venous Thrombosis. ( 29215221 )
2017
27
Magnitude of Potentially Inappropriate Thrombophilia Testing in the Inpatient Hospital Setting. ( 28914278 )
2017
28
Non-vitamin K antagonist oral anticoagulants in patients with severe inherited thrombophilia: a series of 33 patients. ( 28079536 )
2017
29
Diagnosis and treatment of inherited thrombophilia. ( 28781286 )
2017
30
Assessment of Hereditary Thrombophilia: Performance of Antithrombin (AT) Testing. ( 28804827 )
2017
31
'To test or not to test', the arguments for and against thrombophilia testing in obstetrics. ( 28680464 )
2017
32
Combined Thrombophilia in a Young Male Presenting as Life Threatening Pulmonary Embolism. ( 29207759 )
2017
33
Testing for heritable thrombophilia in acute venous thromboembolism. ( 28676580 )
2017
34
Primary Thrombophilia in Mexico XII: Miscarriages Are More Frequent in People with Sticky Platelet Syndrome. ( 28179211 )
2017
35
Inpatient Thrombophilia Testing: At What Expense? ( 28914288 )
2017
36
Migraine with aura and screening for biologicalA thrombophilia. ( 29175257 )
2017
37
Assessment of Hereditary Thrombophilia: Performance of Protein C (PC) Testing. ( 28804825 )
2017
38
Vascular Manifestations in Antiphospholipid Syndrome (APS): Is APS a Thrombophilia or a Vasculopathy? ( 28871481 )
2017
39
A case of hereditary thrombophilia in a Chinese Han patient with both antithrombin deficiency and Factor V Leiden: A case report and literature review. ( 29369598 )
2017
40
Letter to the Editor, The Authors Reply: "Cost and Utility of Thrombophilia Testing". ( 29190304 )
2017
41
Whole Exome Sequencing Reveals Severe Thrombophilia in Acute Unprovoked Idiopathic Fatal Pulmonary Embolism. ( 28174134 )
2017
42
Acute Unilateral Renal Infarction in the Setting of an Inherited Thrombophilia and Atrial Septal Defect. ( 28928995 )
2017
43
Prevalence of common hereditary risk factors for thrombophilia in Somalia and identification of a novel Gln544Arg mutation in coagulation factor V. ( 28889200 )
2017
44
A clinical audit of thrombophilia testing in pediatric patients with acute thromboembolic events: impact on management. ( 29296888 )
2017
45
Patterns and Appropriateness of Thrombophilia Testing in an Academic Medical Center. ( 28914273 )
2017
46
Clinical outcomes and a high prevalence of abnormalities on comprehensive arterial and venous thrombophilia screening in TIA or ischaemic stroke patients with a patent foramen ovale, an inter-atrial septal aneurysm or both. ( 28477701 )
2017
47
Retinal vascular occlusion: a window to diagnosis of familial and acquired thrombophilia and hypofibrinolysis, with important ramifications for pregnancy outcomes. ( 27563233 )
2016
48
LMWH in the prevention of preeclampsia and fetal growth restriction in women without thrombophilia. A systematic review and meta-analysis. ( 27440387 )
2016
49
Venous Thromboembolism After Knee Arthroscopy in Undiagnosed Familial Thrombophilia. ( 27459142 )
2016
50
Authors' reply re: Does low-molecular-weight heparin influence fetal growth or uterine and umbilical arterial Doppler in women with a history of earlyonset uteroplacental insufficiency and an inheritable thrombophilia? Secondary randomised controlled trial results. ( 27149357 )
2016

Variations for Thrombophilia

ClinVar genetic disease variations for Thrombophilia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 F2 NM_000506.4(F2): c.*97G> A single nucleotide variant Pathogenic,risk factor rs1799963 GRCh37 Chromosome 11, 46761055: 46761055

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

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.19 APOH F13A1 F2 F3 F5 F8
2
Show member pathways
12.72 F13A1 F2 F3 F5 F8 F9
3
Show member pathways
12.02 F2 PROC PROCR PROS1 THBD
4 11.97 F13A1 F2 F3 F5 F8 F9
5
Show member pathways
11.77 F2 F9 PROC PROS1
6 11.7 F3 JAK2 SERPINE1 THBD
7
Show member pathways
11.7 F13A1 F2 F3 F5 F8 F9
8
Show member pathways
11.66 F2 FGG VWF
9 11.34 F2 FGG VWF
10 10.8 F2 F9 PROC PROS1
11 10.59 HRG SERPINE1

GO Terms for Thrombophilia

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.93 APOH F3 FGG HRG PROCR THBD
2 extracellular region GO:0005576 9.89 APOH F13A1 F2 F3 F5 F8
3 endoplasmic reticulum lumen GO:0005788 9.86 F2 F5 F8 F9 FGG PROC
4 blood microparticle GO:0072562 9.8 F13A1 F2 FGG HRG PROS1 SERPINC1
5 Golgi lumen GO:0005796 9.73 F2 F9 PROC PROS1
6 platelet alpha granule GO:0031091 9.54 F5 FGG VWF
7 platelet alpha granule lumen GO:0031093 9.23 F13A1 F5 F8 FGG HRG PROS1
8 plasma membrane GO:0005886 10.29 F2 F3 F5 F8 F9 FGG
9 extracellular exosome GO:0070062 10.18 APOH F2 F3 F9 FGG HRG
10 extracellular space GO:0005615 10 APOH F2 F3 F5 F8 F9

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.99 F2 F5 FGG PROC SERPINC1 SERPIND1
2 post-translational protein modification GO:0043687 9.98 F5 FGG PROC SERPINC1 SERPIND1
3 ER to Golgi vesicle-mediated transport GO:0006888 9.97 F2 F5 F8 F9 PROC PROS1
4 leukocyte migration GO:0050900 9.96 F2 PROC PROCR PROS1 THBD
5 negative regulation of endopeptidase activity GO:0010951 9.93 HRG PROS1 SERPINC1 SERPIND1 SERPINE1
6 platelet activation GO:0030168 9.92 F2 F8 FGG HRG VWF
7 blood coagulation GO:0007596 9.86 F13A1 F2 F3 F5 F8 F9
8 platelet degranulation GO:0002576 9.81 APOH F13A1 F5 F8 FGG HRG
9 fibrinolysis GO:0042730 9.8 F2 FGG HRG PROS1 SERPINE1
10 regulation of blood coagulation GO:0030193 9.78 APOH F2 HRG SERPINC1
11 blood coagulation, intrinsic pathway GO:0007597 9.77 APOH F2 F8 F9 VWF
12 signal peptide processing GO:0006465 9.76 F2 F9 PROC PROS1
13 peptidyl-glutamic acid carboxylation GO:0017187 9.73 F2 F9 PROC PROS1
14 positive regulation of blood coagulation GO:0030194 9.72 APOH F2 SERPINE1
15 negative regulation of blood coagulation GO:0030195 9.72 APOH PROC PROS1 SERPINE1 THBD
16 negative regulation of fibrinolysis GO:0051918 9.65 APOH F2 HRG SERPINE1 THBD
17 plasminogen activation GO:0031639 9.61 APOH FGG
18 negative regulation of cell adhesion mediated by integrin GO:0033629 9.61 HRG SERPINE1
19 negative regulation of platelet activation GO:0010544 9.6 F2 THBD
20 negative regulation of coagulation GO:0050819 9.59 PROC PROCR
21 blood coagulation, extrinsic pathway GO:0007598 9.58 F3 F9
22 blood coagulation, fibrin clot formation GO:0072378 9.57 F13A1 FGG
23 hemostasis GO:0007599 9.5 F13A1 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 9.88 F2 F9 HABP2 PROC PROS1 THBD
2 receptor binding GO:0005102 9.83 F2 FGG HRG JAK2 SERPINE1
3 serine-type peptidase activity GO:0008236 9.67 F2 F9 HABP2 PROC
4 serine-type endopeptidase activity GO:0004252 9.65 F2 F3 F9 HABP2 PROC
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 9.02 APOH F2 HRG SERPINC1 SERPIND1

Sources for Thrombophilia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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