MCID: THR015
MIFTS: 59

Thrombophilia malady

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

Aliases & Classifications for Thrombophilia

Aliases & Descriptions for Thrombophilia:

Name: Thrombophilia 12 24 29 52 3 42 14 69
Hypercoagulability State 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2452
ICD10 33 D68.59
MeSH 42 D019851
NCIt 47 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 thrombophilia due to activated protein c resistance and budd-chiari syndrome. 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 Dalteparin and Heparin have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and placenta, and related phenotypes are Synthetic lethal with vaccinia virus (VACV) infection and cardiovascular system

Wikipedia : 71 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 Activated Protein C Resistance Thrombophilia, Familial, Due to Decreased Release of Plat
Thrombophilia Due to Thrombin Defect 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 296)
id Related Disease Score Top Affiliating Genes
1 thrombophilia due to activated protein c resistance 33.1 APOH F2 F3 F5 MTHFR SERPINC1
2 budd-chiari syndrome 30.3 APOH F2 F3 F5 MTHFR SERPINC1
3 hemolytic-uremic syndrome 29.8 F2 F3 SERPINC1
4 lung cancer 29.5 APOH F5 MTHFR
5 ischemic optic neuropathy 29.3 APOH F2 SERPINC1 SERPINE1 VWF
6 essential thrombocythemia 28.7 F2 F3 F8 F9 SERPINC1 VWF
7 myeloproliferative neoplasm 28.7 F2 F3 F8 SERPINC1 VWF
8 myocardial infarction 28.1 F2 F3 F5 F8 MTHFR PROCR
9 prothrombin-related thrombophilia 12.4
10 factor v leiden thrombophilia 12.2
11 thrombophilia due to hrg deficiency 12.2
12 thrombophilia due to thrombin defect 12.2
13 thrombophilia due to protein c deficiency, autosomal recessive 12.2
14 thrombophilia due to antithrombin iii deficiency 12.1
15 thrombophilia due to protein s deficiency, autosomal recessive 12.1
16 thrombophilia due to protein s deficiency, autosomal dominant 12.1
17 thrombophilia due to thrombomodulin defect 12.0
18 thrombophilia, x-linked, due to factor ix defect 12.0
19 thrombophilia due to protein c deficiency, autosomal dominant 12.0
20 thrombophilia due to heparin cofactor ii deficiency 12.0
21 hereditary thrombophilia due to congenital protein s deficiency 11.8
22 protein c deficiency 11.7
23 factor v r2 mutation thrombophilia 11.7
24 factor vii marburg i variant thrombophilia 11.7
25 thrombophilia, familial, due to decreased release of plat 11.7
26 factor v cambridge thrombophilia 11.7
27 hereditary antithrombin deficiency 11.2
28 antiphospholipid syndrome 11.1
29 protein s deficiency 11.1
30 livedoid vasculopathy 11.0
31 mthfr thermolabile variant 10.7
32 thrombosis 10.5
33 multiple familial trichoepithelioma 10.3 F5 MTHFR
34 congenital insensitivity to pain with severe intellectual disability 10.3 F2 F5
35 med13l syndrome 10.3 APOH F5
36 scn8a-related epilepsy with encephalopathy 10.3 F2 MTHFR
37 achard thiers syndrome 10.3 APOH F5
38 photosensitive epilepsy 10.3 F2 F5 MTHFR
39 houlston ironton temple syndrome 10.3 F2 F5 MTHFR
40 myosclerosis, congenital 10.3 F5 MTHFR SERPINC1
41 villous adenoma 10.3 F2 F5 MTHFR
42 absence of innominate vein 10.2 F5 MTHFR SERPINE1
43 aminoaciduria 10.2 F5 MTHFR SERPINE1
44 porphyria 10.2 F2 MTHFR
45 stt3a-cdg and stt3b-cdg 10.2 F5 SERPINC1 SERPINE1
46 neutropenia 10.2 MTHFR PROC SERPINE1
47 alpha-2-plasmin inhibitor deficiency 10.2 F2 MTHFR SERPINC1
48 periosteal chondrosarcoma 10.2 F2 SERPINC1 SERPINE1
49 may-hegglin anomaly 10.2 APOH F2 SERPINC1
50 cleft lip 10.2 F5 MTHFR SERPINC1

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 9.02 PROC SERPINC1 SERPINE1 SERPINF2 THBD

MGI Mouse Phenotypes related to Thrombophilia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.18 PROS1 SERPINC1 SERPIND1 SERPINE1 THBD VWF
2 homeostasis/metabolism MP:0005376 10.16 PROCR PROS1 SERPINC1 SERPIND1 SERPINE1 SERPINF2
3 hematopoietic system MP:0005397 10.1 F2 F3 F8 F9 PROC PROCR
4 embryo MP:0005380 9.97 F2 F3 F5 F9 PROCR PROS1
5 immune system MP:0005387 9.85 F2 F3 F8 F9 PROC PROCR
6 liver/biliary system MP:0005370 9.5 PROC PROS1 SERPINC1 SERPINE1 THBD F5
7 mortality/aging MP:0010768 9.5 APOH F2 F3 F5 F8 F9

Drugs & Therapeutics for Thrombophilia

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

(show top 50) (show all 210)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dalteparin Approved Phase 4,Phase 3 9041-08-1
2
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2 9005-49-6 772 46507594
3
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
4
Iron Approved Phase 4 7439-89-6 23925
5
Benzocaine Approved Phase 4,Phase 3 1994-09-7, 94-09-7 2337
6
Rivaroxaban Approved Phase 4,Phase 3 366789-02-8
7 tannic acid Approved, Nutraceutical Phase 4,Phase 3
8
Choline Approved, Nutraceutical Phase 4 62-49-7 305
9 Anticoagulants Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
10 calcium heparin Phase 4,Phase 3,Phase 2
11 Fibrinolytic Agents Phase 4,Phase 3,Phase 2
12 Heparin, Low-Molecular-Weight Phase 4,Phase 3
13 Micronutrients Phase 4,Phase 3
14 Trace Elements Phase 4,Phase 3
15 Calcium, Dietary Phase 4,Phase 3
16 Analgesics Phase 4,Phase 3,Phase 2
17 Analgesics, Non-Narcotic Phase 4,Phase 3
18 Anti-Inflammatory Agents Phase 4,Phase 3
19 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3
20 Antipyretics Phase 4,Phase 3
21 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Cyclooxygenase Inhibitors Phase 4,Phase 3
23 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
24 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
25 Antibodies Phase 4,Phase 3,Phase 2,Phase 1
26 Antibodies, Antiphospholipid Phase 4
27 Antithrombin III Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
28 Antithrombins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
29 Factor Xa Inhibitors Phase 4,Phase 3
30 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
31 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1
32
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
33 Serine Proteinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
34 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
35 Factor VIII Phase 4,Phase 3,Phase 1,Phase 2
36 Thrombin Phase 4,Phase 2,Phase 3,Early Phase 1
37 Anti-Infective Agents Phase 4,Phase 3,Early Phase 1
38 Lactoferrin Phase 4
39 Protein C Phase 4,Phase 2,Phase 3
40 Cytidine Diphosphate Choline Phase 4
41 Nootropic Agents Phase 4
42 serine Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
43 Iron Supplement Nutraceutical Phase 4
44 Nadroparin Approved Phase 3 9041-08-1
45
Ticlopidine Approved Phase 3,Phase 2 55142-85-3 5472
46
Ticagrelor Approved Phase 3,Phase 2 274693-27-5 9871419
47
Phenprocoumon Approved Phase 3 435-97-2 9908 54680692
48
Warfarin Approved Phase 3,Phase 2 81-81-2 6691 54678486
49
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
50
rituximab Approved Phase 3,Phase 2,Phase 1 174722-31-7 10201696

Interventional clinical trials:

(show top 50) (show all 220)
id Name Status NCT ID Phase
1 Low Molecular Weight Heparin in Prevention of Recurrent Arteriovenous Graft Thrombosis in Chronic Hemodialysis Patients. Unknown status NCT01970280 Phase 4
2 Bovine Lactoferrin to Prevent and Cure Iron Deficiency and Iron Deficiency Anemia in Complicated Pregnancies Completed NCT01221844 Phase 4
3 The Effect of Heparin in Treatment IVF-ET Failure Completed NCT01214772 Phase 4
4 Efficacy and Safety of DLBS1033 in Subjects With Type 2 Diabetes Mellitus Completed NCT01865474 Phase 4
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
9 Clinical Pharmacokinetics Study of ART-123 in Disseminated Intravascular Coagulation (DIC) Subjects With Renal Impairment Completed NCT01704001 Phase 4
10 Retrospective Study to Capture Dosing and Treatment Outcome Data in Subjects With Severe Congenital Protein C Deficiency Who Were Treated With Protein C Concentrate Under an Emergency Use IND Completed NCT00161720 Phase 4
11 Diagnosis and Treatment Strategy of Recurrent Spontaneous Abortion Associated With Thrombophilla Recruiting NCT02986594 Phase 4
12 Rivaroxaban for Antiphospholipid Antibody Syndrome Recruiting NCT02116036 Phase 4
13 Citicoline Effect on Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) Recruiting NCT03046693 Phase 4
14 Safety Study of Alphanate in Previously Treated Patients With Severe Hemophilia A Recruiting NCT00323856 Phase 4
15 Atenativ Effect on Uterine Blood Flow and Preeclampsia Recruiting NCT02278575 Phase 4
16 Aspirin and Enoxaparin for VTE in Trauma Active, not recruiting NCT02396732 Phase 4
17 Response of Recombinant Antithrombin in Heparin Resistant Patients Undergoing Cardiac Surgery Terminated NCT01547728 Phase 4
18 LMWH to Prevent Preeclampsia and Fetal Growth Restriction Terminated NCT00260520 Phase 4
19 Prophylactic Plasma Infusion Therapy for Congenital Thrombotic Thrombocytopenic Purpura Withdrawn NCT01754545 Phase 4
20 Heparin for Pregnant Women With Thrombophilia Unknown status NCT01019655 Phase 3
21 ThrombElastoGraphic Haemostatic Status and Antiplatelet Therapy After Coronary Artery Bypass Graft Surgery Unknown status NCT01046942 Phase 3
22 Safety and Efficacy of Low-Dose Ticagrelor in Chinese Patients With NSTE-ACS Unknown status NCT02415803 Phase 3
23 Effects of the Concentrated Extract of Soy on Coagulation Factors After Menopause Unknown status NCT00925639 Phase 3
24 D-Dimer Guided Oral Anticoagulant Treatment (OAT) Unknown status NCT00895505 Phase 3
25 TIPPS: Thrombophilia in Pregnancy Prophylaxis Study Completed NCT00967382 Phase 3
26 Biomarker Sub Study of the Compression Stockings to Prevent the Post-Thrombotic Syndrome (SOX) Trial Completed NCT01615705 Phase 3
27 Low Weight Heparin prOphylaxis for Placental‐Mediated Complications of PrEgnancy Completed NCT01388322 Phase 3
28 Low Molecular Weight Heparin and/or Aspirin in Prevention of Habitual Abortion Completed NCT00959621 Phase 3
29 Vitamins C and Vitamin E and Cardiovascular Risk Completed NCT00362518 Phase 3
30 An Open-label Study of KW-3357 Completed NCT01384903 Phase 3
31 A Clinical Study of KW-3357 in Patients With DIC Completed NCT01384396 Phase 3
32 Prevention of Maternal and Perinatal Complications by Enoxaparin in Women With Previous Severe Preeclampsia Completed NCT00986765 Phase 3
33 Study of Recombinant Factor IX Product, IB1001, in Previously Treated Pediatric Subjects With Hemophilia B Completed NCT01271868 Phase 3
34 N-Acetylcysteine in Patients With Sickle Cell Disease Completed NCT01849016 Phase 3
35 Efficacy and Safety Study of Protein C Concentrate in Subjects With Severe Congenital Protein C Deficiency Completed NCT00157118 Phase 2, Phase 3
36 Recombinant Human Antithrombin (rhAT) in Patients With Hereditary Antithrombin Deficiency Undergoing Surgery or Delivery Completed NCT00110513 Phase 3
37 Study of Recombinant Factor IX Product, IB1001, in Subjects With Hemophilia B Completed NCT00768287 Phase 2, Phase 3
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 Xarelto Versus no Treatment for the Prevention of Recurrent Thrombosis in Patients With Chronic Portal Vein Thrombosis. Recruiting NCT02555111 Phase 3
40 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
41 A Study of Rivaroxaban (JNJ-39039039) on the Venous Thromboembolic Risk in Post-Hospital Discharge Patients Recruiting NCT02111564 Phase 3
42 Safety, Pharmacokinetics and Efficacy of an AT-III Concentrate. Recruiting NCT00319228 Phase 2, Phase 3
43 Assess the Efficacy and Safety of Personalized Prophylaxis Human-cl rhFVIII in Patients With Severe Haemophilia A Recruiting NCT02256917 Phase 3
44 Follow-up Study for Patients Who Completed Study ALX0681-C301 (Post-HERCULES) Recruiting NCT02878603 Phase 3
45 Phase III Trial With Caplacizumab in Patients With Acquired Thrombotic Thrombocytopenic Purpura Recruiting NCT02553317 Phase 3
46 Study of Cyclosporine or Corticosteroids as an Adjunct to Plasma Exchange in Thrombotic Thrombocytopenic Purpura (TTP) Active, not recruiting NCT00713193 Phase 3
47 Hydroxychloroquine for Prevention of Recurrent Miscarriage. Not yet recruiting NCT03165136 Phase 3
48 Efficacy and Safety of Unfractionated Heparin on Severe Sepsis With Suspected Disseminated Intravascular Coagulation Not yet recruiting NCT02654561 Phase 3
49 Prevention of Unexplained Recurrent Abortion by Enoxaparine Terminated NCT00740545 Phase 3
50 Weight Adjusted Low Molecular Weight Heparin in Recurrent Implantation Failure: a Randomized Open Labeled Trial Terminated NCT02991950 Phase 3

Search NIH Clinical Center for Thrombophilia

Cochrane evidence based reviews: thrombophilia

Genetic Tests for Thrombophilia

Genetic tests related to Thrombophilia:

id Genetic test Affiliating Genes
1 Thrombophilia 29 24

Anatomical Context for Thrombophilia

MalaCards organs/tissues related to Thrombophilia:

39
Testes, Liver, Placenta, Endothelial, Kidney, Bone, Heart

Publications for Thrombophilia

Articles related to Thrombophilia:

(show top 50) (show all 1001)
id Title Authors Year
1
Impact of thrombophilia screening on venous thromboembolism management practices. ( 27931012 )
2017
2
Whole Exome Sequencing Reveals Severe Thrombophilia in Acute Unprovoked Idiopathic Fatal Pulmonary Embolism. ( 28174134 )
2017
3
Murine systemic thrombophilia and hemolytic uremic syndrome from a factor H point mutation. ( 28057640 )
2017
4
Thrombophilia Screening. ( 28049358 )
2017
5
Non-vitamin K antagonist oral anticoagulants in patients with severe inherited thrombophilia: a series of 33 patients. ( 28079536 )
2017
6
Cardiovascular risk factors in women with inheritable thrombophilia a decade after single or recurrent hypertensive disorder of pregnancy. ( 27322349 )
2016
7
A Rare Case of Acute Myeloid Leukemia with a t(2;3) Chromosomal Translocation Characterized by Thrombophilia and Chemoresistance. ( 27334861 )
2016
8
Efficacy of dabigatran versus warfarin in patients with acute venous thromboembolism in the presence of thrombophilia: Findings from RE-COVERAr, RE-COVERa8c II, and RE-MEDYa8c. ( 27807306 )
2016
9
Thrombophilia testing results in patients with a first venous thromboembolic event - should the selection criteria for testing be revisited? ( 27096232 )
2016
10
Thrombophilia after total gastrectomy for morbid obesity. ( 26911993 )
2016
11
A case-based reasoning view of thrombophilia risk. ( 27404848 )
2016
12
Congenital limb deficiencies with vascular etiology: Possible association with maternal thrombophilia. ( 27530094 )
2016
13
Analysis of Thrombophilia Test Ordering Practices at an Academic Center: A Proposal for Appropriate Testing to Reduce Harm and Cost. ( 27176603 )
2016
14
Thrombophilia prevalence among women with placenta-mediated pregnancy complications. ( 27113416 )
2016
15
Re: Does low-molecular-weight heparin influence fetal growth or uterine and umbilical arterial Doppler in women with a history of early-onset uteroplacental insufficiency and an inheritable thrombophilia? Secondary randomised controlled trial results LMWH influencing fetal growth. ( 27149359 )
2016
16
Hereditary risk factors of thrombophilia and probability of venous thromboembolism during pregnancy and the puerperium. ( 27613196 )
2016
17
Re: Does low-molecular-weight heparin influence fetal growth or uterine and umbilical arterial Doppler in women with a history of early-onset uteroplacental insufficiency and an inheritable thrombophilia? Secondary randomised controlled trial results LMWH influencing fetal growth. ( 27149356 )
2016
18
Impact of high risk thrombophilia status on recurrence among children and adults with VTE: An observational multicenter cohort study. ( 27838551 )
2016
19
Authors' reply re: Does low-molecular-weight heparin influence fetal growth or uterine and umbilical arterial Doppler in women with a history of early-onset uteroplacental insufficiency and an inheritable thrombophilia? Secondary randomised controlled trial results. ( 27149358 )
2016
20
Protection From Pregnancy Loss in Women With Hereditary Thrombophilia When Associated With Fibrinogen Polymorphism Thr331Ala. ( 27099386 )
2016
21
Thrombophilia and assisted reproduction technology-any detrimental impact or unnecessary overuse? ( 27423663 )
2016
22
Retinal vascular occlusion: a window to diagnosis of familial and acquired thrombophilia and hypofibrinolysis, with important ramifications for pregnancy outcomes. ( 27563233 )
2016
23
The Impact of Inherited Thrombophilia Types and Low Molecular Weight Heparin Treatment on Pregnancy Complications in Women with Previous Adverse Outcome. ( 27401656 )
2016
24
Hospitalization for pulmonary embolism associated with antecedent testosterone or estrogen therapy in patients found to have familial and acquired thrombophilia. ( 26958344 )
2016
25
Asynchronous Bilateral Renal Infarction and Thrombophilia With Associated Gene Mutations in a 43-Year-Old Man: A Case Report. ( 27057875 )
2016
26
Severe Asthma with Joint Pain, Thrombophilia, and Irritable Bowel Syndrome. ( 27587324 )
2016
27
Management of inherited thrombophilia in pregnancy. ( 27638899 )
2016
28
Bilateral Legg-Calve-Perthes Disease and Kienbock's Disease in a Child With Factor V Leiden Thrombophilia: A Case Report. ( 27698645 )
2016
29
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
30
Inpatient inherited thrombophilia testing. ( 27782379 )
2016
31
Genetic susceptibility to deep venous thromboembolism: the roles of inherited thrombophilia polymorphisms. ( 27023879 )
2016
32
Direct Oral Anticoagulants in Patients with Thrombophilia: Challenges in Diagnostic Evaluation and Treatment. ( 28028988 )
2016
33
Inherited thrombophilia in women with poor aPL-related obstetric history: prevalence and outcomes. Survey of 208A cases from the European Registry on Obstetric Antiphospholipid Syndrome cohort. ( 27401589 )
2016
34
Fatal Pulmonary Embolism Due to Inherited Thrombophilia Factors in a Child With Wolfram Syndrome. ( 27379531 )
2016
35
A meta-analysis of low-molecular-weight heparin to prevent pregnancy loss in women with inherited thrombophilia. ( 26837697 )
2016
36
Hereditary Thrombophilia and Recurrent Pregnancy Loss. ( 27427827 )
2016
37
The Prevalence of Thrombophilia in Women With Recurrent Fetal Loss and Outcome of Anticoagulation Therapy for the Prevention of Miscarriages. ( 27799457 )
2016
38
Exome Sequencing and Clot Lysis Experiments Demonstrate the R458C Mutation of the Alpha Chain of Fibrinogen to be Associated with Impaired Fibrinolysis in a Family with Thrombophilia. ( 26581183 )
2016
39
Coagulation, thrombophilia and patency of arteriovenous fistula in children undergoing haemodialysis compared with healthy volunteers: a prospective analysis. ( 26829282 )
2016
40
Inherited thrombophilia: a double-edged sword. ( 27913455 )
2016
41
Sickle cell disease: an inherited thrombophilia. ( 27913540 )
2016
42
Thrombus-like small apical fibroma in patient with left ventricular dysfunction and thrombophilia: an unusual presentation. ( 27906779 )
2016
43
Correlation with Platelet Parameters and Genetic Markers of Thrombophilia Panel (Factor II g.20210G>A, Factor V Leiden, MTHFR (C677T, A1298C), PAI-1, I^-Fibrinogen, Factor XIIIA (V34L), Glycoprotein IIIa (L33P)) in Ischemic Strokes. ( 26951304 )
2016
44
Prethrombotic, prothrombotic, thrombophilic states, hypercoagulable state, thrombophilia etc.: semantics should be respected even in medical papers. ( 27864647 )
2016
45
Combined oral contraceptives, thrombophilia and the risk of venous thromboembolism: a systematic review and meta-analysis. ( 27121914 )
2016
46
No evidence for thrombophilia in patients with retinal venous occlusion: a systematic GRADE-based review. ( 27573507 )
2016
47
The contribution of hereditary thrombophilia to increasing the frequency of thrombosis in patients with Ph negative myeloproliferative neoplasms, including the victims from the Chornobyl accident. ( 28027559 )
2016
48
Impact of high-risk thrombophilia status on recurrence among children with a first non-central-venous-catheter-associated VTE: an observational multicentre cohort study. ( 27329967 )
2016
49
Venous Thromboembolism After Knee Arthroscopy in Undiagnosed Familial Thrombophilia. ( 27459142 )
2016
50
LMWH in the prevention of preeclampsia and fetal growth restriction in women without thrombophilia. A systematic review and meta-analysis. ( 27440387 )
2016

Variations for Thrombophilia

ClinVar genetic disease variations for Thrombophilia:

6
id 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
id 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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 APOH F2 F3 F5 F8 F9
2
Show member pathways
12.63 F2 F3 F5 F8 F9 PROC
3
Show member pathways
12.05 F2 PROC PROCR PROS1 THBD
4 11.94 F2 F3 F5 F8 F9 PROC
5
Show member pathways
11.77 F2 F9 PROC PROS1
6
Show member pathways
11.68 F2 F3 F5 F8 F9 PROC
7 11.63 F3 SERPINE1 THBD
8 10.8 F2 F9 PROC PROS1
9 10.66 HRG SERPINE1 SERPINF2

GO Terms for Thrombophilia

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.97 APOH F2 F3 F5 F8 F9
2 cell surface GO:0009986 9.91 APOH F3 HRG PROCR SERPINF2 THBD
3 extracellular region GO:0005576 9.83 APOH F2 F3 F5 F8 F9
4 endoplasmic reticulum lumen GO:0005788 9.8 F2 F5 F8 F9 PROC SERPINC1
5 extracellular matrix GO:0031012 9.78 APOH F3 SERPINE1 VWF
6 blood microparticle GO:0072562 9.77 F2 HRG PROS1 SERPINC1 SERPINF2
7 Golgi lumen GO:0005796 9.71 F2 F9 PROC PROS1
8 platelet alpha granule GO:0031091 9.46 F5 VWF
9 platelet alpha granule lumen GO:0031093 9.17 F5 F8 HRG PROS1 SERPINE1 SERPINF2
10 plasma membrane GO:0005886 10.24 F2 F3 F5 F8 F9 HRG
11 extracellular exosome GO:0070062 10.1 APOH F2 F3 F9 HRG PROCR

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

(show all 24)
id Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.97 F2 F5 F8 F9 PROC PROS1
2 cellular protein metabolic process GO:0044267 9.96 F2 F5 PROC SERPINC1 SERPIND1
3 leukocyte migration GO:0050900 9.95 F2 PROC PROCR PROS1 THBD
4 negative regulation of endopeptidase activity GO:0010951 9.93 HRG PROS1 SERPINC1 SERPIND1 SERPINE1 SERPINF2
5 post-translational protein modification GO:0043687 9.92 F5 PROC SERPINC1 SERPIND1
6 platelet activation GO:0030168 9.92 F2 F5 F8 HRG VWF
7 negative regulation of peptidase activity GO:0010466 9.87 SERPINC1 SERPIND1 SERPINE1 SERPINF2
8 platelet degranulation GO:0002576 9.86 APOH F5 F8 HRG PROS1 SERPINE1
9 regulation of blood coagulation GO:0030193 9.81 APOH F2 HRG SERPINC1
10 fibrinolysis GO:0042730 9.8 F2 HRG PROS1 SERPINE1 SERPINF2
11 signal peptide processing GO:0006465 9.78 F2 F9 PROC PROS1
12 blood coagulation, intrinsic pathway GO:0007597 9.77 APOH F2 F8 F9 VWF
13 blood coagulation GO:0007596 9.77 F2 F3 F5 F8 F9 HRG
14 acute-phase response GO:0006953 9.75 F2 F8 SERPINF2
15 peptidyl-glutamic acid carboxylation GO:0017187 9.73 F2 F9 PROC PROS1
16 negative regulation of blood coagulation GO:0030195 9.72 APOH PROC PROS1 SERPINE1 THBD
17 positive regulation of blood coagulation GO:0030194 9.71 APOH F2 SERPINE1
18 negative regulation of fibrinolysis GO:0051918 9.63 APOH F2 HRG SERPINE1 SERPINF2 THBD
19 negative regulation of platelet activation GO:0010544 9.61 F2 THBD
20 negative regulation of cell adhesion mediated by integrin GO:0033629 9.61 HRG SERPINE1
21 negative regulation of plasminogen activation GO:0010757 9.6 SERPINE1 SERPINF2
22 blood coagulation, extrinsic pathway GO:0007598 9.59 F3 F9
23 negative regulation of coagulation GO:0050819 9.58 PROC PROCR
24 hemostasis GO:0007599 9.44 F2 F3 F5 F8 F9 HRG

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

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.83 F2 F9 PROC PROS1 THBD
2 heparin binding GO:0008201 9.65 APOH F2 HRG SERPINC1 SERPIND1
3 serine-type endopeptidase activity GO:0004252 9.63 F2 F3 F5 F8 F9 PROC
4 peptidase inhibitor activity GO:0030414 9.62 SERPINC1 SERPIND1 SERPINE1 SERPINF2
5 endopeptidase inhibitor activity GO:0004866 9.58 PROS1 SERPIND1 SERPINF2
6 immunoglobulin binding GO:0019865 9.37 HRG VWF
7 serine-type endopeptidase inhibitor activity GO:0004867 9.35 HRG SERPINC1 SERPIND1 SERPINE1 SERPINF2
8 protease binding GO:0002020 9.02 F3 SERPINC1 SERPINE1 SERPINF2 VWF

Sources for Thrombophilia

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