MCID: THR015
MIFTS: 58

Thrombophilia

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

Aliases & Classifications for Thrombophilia

MalaCards integrated aliases 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 budd-chiari syndrome and hemolytic-uremic syndrome. 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 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 307)
id Related Disease Score Top Affiliating Genes
1 budd-chiari syndrome 30.1 APOH F2 F3 F5 JAK2 MTHFR
2 hemolytic-uremic syndrome 30.0 F2 F3 SERPINC1
3 thrombophilia due to activated protein c resistance 29.3 APOH F2 F3 F5 F8 F9
4 factor x deficiency 28.5 F2 F3 F8 F9
5 peripheral artery disease 28.4 F2 F3 MTHFR SERPINE1 VWF
6 myeloproliferative neoplasm 28.0 F2 F3 F8 SERPINC1 VWF
7 essential thrombocythemia 27.6 F2 F3 F8 F9 SERPINC1 VWF
8 myocardial infarction 25.8 F2 F3 F5 F8 MTHFR PROCR
9 factor v leiden thrombophilia 12.2
10 prothrombin thrombophilia 12.2
11 thrombophilia due to hrg deficiency 12.2
12 thrombophilia due to protein c deficiency, autosomal recessive 12.2
13 thrombophilia due to antithrombin iii deficiency 12.1
14 thrombophilia due to thrombin defect 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 prothrombin-related thrombophilia 12.0
18 thrombophilia due to thrombomodulin defect 12.0
19 thrombophilia, x-linked, due to factor ix defect 12.0
20 thrombophilia due to heparin cofactor ii deficiency 12.0
21 thrombophilia due to protein c deficiency, autosomal dominant 12.0
22 hereditary thrombophilia due to congenital protein s deficiency 11.8
23 protein c deficiency 11.7
24 thrombophilia, familial, due to decreased release of plat 11.7
25 factor v r2 mutation thrombophilia 11.7
26 factor vii marburg i variant thrombophilia 11.7
27 factor v cambridge thrombophilia 11.7
28 hereditary antithrombin deficiency 11.2
29 antiphospholipid syndrome 11.1
30 protein s deficiency 11.1
31 livedoid vasculopathy 11.0
32 variably protease-sensitive prionopathy 10.8 F2 F5
33 multicentric osteolysis nephropathy 10.8 F5 MTHFR
34 mcgillivray syndrome 10.7 APOH F5
35 porphyria 10.7 F2 MTHFR
36 mthfr thermolabile variant 10.7
37 bile duct cystadenoma 10.7 F2 F5
38 accessory deep peroneal nerve 10.7 APOH F5
39 egg allergy 10.7 F2 SERPINC1
40 syndactyly, mesoaxial synostotic, with phalangeal reduction 10.6 F2 SERPINC1
41 venezuelan hemorrhagic fever 10.6 SERPINC1 SERPINE1
42 littre gland carcinoma 10.6 F2 SERPINC1
43 primary pigmented nodular adrenocortical disease 10.6 F2 F5 MTHFR
44 homologous wasting disease 10.6 F2 F5 MTHFR
45 landau-kleffner syndrome 10.6 APOH F2
46 hepatocellular adenoma 10.6 F2 F5 MTHFR
47 coronary sinus stenosis 10.5 F5 MTHFR SERPINE1
48 stoll alembik finck syndrome 10.5 F5 SERPINC1 SERPINE1
49 thrombosis 10.5
50 amelogenesis imperfecta hypomaturation type 10.5 F5 MTHFR SERPINE1

Graphical network of the top 20 diseases related to Thrombophilia:



Diseases related to Thrombophilia

Symptoms & Phenotypes for Thrombophilia

MGI Mouse Phenotypes related to Thrombophilia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.22 APOH F2 F3 F5 F8 F9
2 cardiovascular system MP:0005385 10.21 THBD F2 F3 F5 F9 PROC
3 hematopoietic system MP:0005397 10.18 F2 F3 F8 F9 JAK2 PROC
4 embryo MP:0005380 10.06 F2 F3 F5 F9 JAK2 PROCR
5 immune system MP:0005387 10 F2 F3 F8 F9 JAK2 PROC
6 integument MP:0010771 9.76 PROS1 SERPINE1 THBD F2 F3 F5
7 liver/biliary system MP:0005370 9.56 SERPINC1 SERPINE1 THBD F5 F9 JAK2
8 mortality/aging MP:0010768 9.53 SERPINC1 SERPIND1 SERPINE1 THBD VWF APOH

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 9005-49-6
2
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 772 46507594
3
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
4
Thrombin Approved 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 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
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 Analgesics Phase 4,Phase 3,Phase 2
27 Analgesics, Non-Narcotic Phase 4,Phase 3
28 Anti-Inflammatory Agents Phase 4,Phase 3
29 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3
30 Antipyretics Phase 4,Phase 3
31 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
32 Cyclooxygenase Inhibitors Phase 4,Phase 3
33 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
34 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
35 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
36 Factor VIII Phase 4,Phase 1,Phase 2
37 Anti-Infective Agents Phase 4,Phase 3,Early Phase 1
38 Lactoferrin Phase 4
39 Cytidine Diphosphate Choline Phase 4
40 Nootropic Agents Phase 4
41 serine Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
42 Iron Supplement Nutraceutical Phase 4
43 Nadroparin Approved Phase 3 9041-08-1
44
Ticlopidine Approved Phase 3,Phase 2 55142-85-3 5472
45
Ticagrelor Approved Phase 3,Phase 2 274693-27-5 9871419
46
Phenprocoumon Approved Phase 3 435-97-2 9908 54680692
47
Warfarin Approved Phase 3,Phase 2 81-81-2 6691 54678486
48
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
49
rituximab Approved Phase 3,Phase 2,Phase 1 174722-31-7 10201696
50
Acetylcysteine Approved, Investigational Phase 3,Early Phase 1 616-91-1 12035

Interventional clinical trials:

(show top 50) (show all 226)

id 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 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
11 Clinical Pharmacokinetics Study of ART-123 in Disseminated Intravascular Coagulation (DIC) Subjects With Renal Impairment Completed NCT01704001 Phase 4 ART-123
12 Diagnosis and Treatment Strategy of Recurrent Spontaneous Abortion Associated With Thrombophilla Recruiting NCT02986594 Phase 4 Aspirin;Heparin
13 Safety Study of Alphanate in Previously Treated Patients With Severe Hemophilia A Recruiting NCT00323856 Phase 4 Alphanate SD/HT
14 Aspirin and Enoxaparin for VTE in Trauma Active, not recruiting NCT02396732 Phase 4 Aspirin;Enoxaparin
15 Response of Recombinant Antithrombin in Heparin Resistant Patients Undergoing Cardiac Surgery Terminated NCT01547728 Phase 4 Recombinant antithrombin (rhAT)
16 LMWH to Prevent Preeclampsia and Fetal Growth Restriction Terminated NCT00260520 Phase 4 Dalteparin
17 Atenativ Effect on Uterine Blood Flow and Preeclampsia Withdrawn NCT02278575 Phase 4 Atenativ
18 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)
19 Heparin for Pregnant Women With Thrombophilia Unknown status NCT01019655 Phase 3 Nadroparin calcium
20 ThrombElastoGraphic Haemostatic Status and Antiplatelet Therapy After Coronary Artery Bypass Graft Surgery Unknown status NCT01046942 Phase 3 Clopidogrel+acetylsalicylic acid;acetylsalicylic acid
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 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 Enoxaparin
28 Low Molecular Weight Heparin and/or Aspirin in Prevention of Habitual Abortion Completed NCT00959621 Phase 3 Aspirin;Klexane;Klexane and ASA
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 KW-3357;Plasma-derived antithrombin
31 A Clinical Study of KW-3357 in Patients With DIC Completed NCT01384396 Phase 3 KW-3357
32 Prevention of Maternal and Perinatal Complications by Enoxaparin in Women With Previous Severe Preeclampsia Completed NCT00986765 Phase 3 Lovenox® (enoxaparin);Aspegic ® (Aspirin)
33 Study of Recombinant Factor IX Product, IB1001, in Previously Treated Pediatric Subjects With Hemophilia B Completed NCT01271868 Phase 3 Recombinant factor IX Product, IB1001
34 N-Acetylcysteine in Patients With Sickle Cell Disease Completed NCT01849016 Phase 3 N-Acetylcysteine;Placebo
35 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
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 Phase III Trial With Caplacizumab in Patients With Acquired Thrombotic Thrombocytopenic Purpura Completed NCT02553317 Phase 3
39 Study of Cyclosporine or Corticosteroids as an Adjunct to Plasma Exchange in Thrombotic Thrombocytopenic Purpura (TTP) Completed NCT00713193 Phase 3 Cyclosporine;Prednisone
40 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
41 Xarelto Versus no Treatment for the Prevention of Recurrent Thrombosis in Patients With Chronic Portal Vein Thrombosis. Recruiting NCT02555111 Phase 3 Xarelto
42 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
43 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
44 Safety, Pharmacokinetics and Efficacy of an AT-III Concentrate. Recruiting NCT00319228 Phase 2, Phase 3 Plasma-derived AT-III concentrate
45 Follow-up Study for Patients Who Completed Study ALX0681-C301 (Post-HERCULES) Recruiting NCT02878603 Phase 3
46 Hydroxychloroquine for Prevention of Recurrent Miscarriage. Not yet recruiting NCT03165136 Phase 3 Hydroxychloroquine;Placebo
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

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, Heart, Endothelial, Placenta, Lung, Bone

Publications for Thrombophilia

Articles related to Thrombophilia:

(show top 50) (show all 1023)
id Title Authors Year
1
Impact of thrombophilia screening on venous thromboembolism management practices. ( 27931012 )
2017
2
Vascular Manifestations in Antiphospholipid Syndrome (APS): Is APS a Thrombophilia or a Vasculopathy? ( 28871481 )
2017
3
Acute Unilateral Renal Infarction in the Setting of an Inherited Thrombophilia and Atrial Septal Defect. ( 28928995 )
2017
4
Donor Selection and Prophylactic Strategy for Venous Thromboembolic Events in Living Donors of Liver Transplantation Based on Results of Thrombophilia Screening Tests. ( 28674378 )
2017
5
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
6
Assessment of Hereditary Thrombophilia: Performance of Protein S (PS) Testing. ( 28804826 )
2017
7
Inpatient Thrombophilia Testing: At What Expense? ( 28914288 )
2017
8
Stroke diagnosis associated with thrombophilia testing overutilization. ( 28753476 )
2017
9
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
10
Magnitude of Potentially Inappropriate Thrombophilia Testing in the Inpatient Hospital Setting. ( 28914278 )
2017
11
Whole Exome Sequencing Reveals Severe Thrombophilia in Acute Unprovoked Idiopathic Fatal Pulmonary Embolism. ( 28174134 )
2017
12
Assessment of Hereditary Thrombophilia: Performance of Antithrombin (AT) Testing. ( 28804827 )
2017
13
Thrombophilia Screening. ( 28049358 )
2017
14
Murine systemic thrombophilia and hemolytic uremic syndrome from a factor H point mutation. ( 28057640 )
2017
15
'To test or not to test', the arguments for and against thrombophilia testing in obstetrics. ( 28680464 )
2017
16
Prevalence of common hereditary risk factors for thrombophilia in Somalia and identification of a novel Gln544Arg mutation in coagulation factor V. ( 28889200 )
2017
17
Adverse pregnancy outcomes and inherited thrombophilia. ( 28792912 )
2017
18
Non-vitamin K antagonist oral anticoagulants in patients with severe inherited thrombophilia: a series of 33 patients. ( 28079536 )
2017
19
Testing for heritable thrombophilia in acute venous thromboembolism. ( 28676580 )
2017
20
Patterns and Appropriateness of Thrombophilia Testing in an Academic Medical Center. ( 28914273 )
2017
21
Thrombophilia Testing and Venous Thrombosis. ( 28930509 )
2017
22
Primary Thrombophilia in Mexico XII: Miscarriages Are More Frequent in People with Sticky Platelet Syndrome. ( 28179211 )
2017
23
Primary Thrombophilia in MAcxico XI: Activated Protein C Resistance Phenotypes are Multifactorial. ( 28824240 )
2017
24
Contribution of inherited thrombophilia to recurrent miscarriage in the Polish population. ( 28819944 )
2017
25
Diagnosis and treatment of inherited thrombophilia. ( 28781286 )
2017
26
An Overview of Thrombophilia and Associated Laboratory Testing. ( 28804823 )
2017
27
Assessment of Hereditary Thrombophilia: Performance of Protein C (PC) Testing. ( 28804825 )
2017
28
Inherited thrombophilia and reproductive disorders. ( 27026779 )
2016
29
Thrombophilia testing results in patients with a first venous thromboembolic event - should the selection criteria for testing be revisited? ( 27096232 )
2016
30
Combined oral contraceptives, thrombophilia and the risk of venous thromboembolism: a systematic review and meta-analysis. ( 27121914 )
2016
31
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
32
Genetics of suspected thrombophilia in Serbian females with infertility, including three cases, homozygous for FII 20210A or FV 1691A mutations. ( 27855570 )
2016
33
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
34
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
35
Retinal vascular occlusion: a window to diagnosis of familial and acquired thrombophilia and hypofibrinolysis, with important ramifications for pregnancy outcomes. ( 27563233 )
2016
36
Thrombus-like small apical fibroma in patient with left ventricular dysfunction and thrombophilia: an unusual presentation. ( 27906779 )
2016
37
Hospitalization for pulmonary embolism associated with antecedent testosterone or estrogen therapy in patients found to have familial and acquired thrombophilia. ( 26958344 )
2016
38
Genetic susceptibility to deep venous thromboembolism: the roles of inherited thrombophilia polymorphisms. ( 27023879 )
2016
39
Thrombophilia investigation - Not for everyone. ( 27773025 )
2016
40
Severe Asthma with Joint Pain, Thrombophilia, and Irritable Bowel Syndrome. ( 27587324 )
2016
41
Cardiovascular risk factors in women with inheritable thrombophilia a decade after single or recurrent hypertensive disorder of pregnancy. ( 27322349 )
2016
42
Congenital limb deficiencies with vascular etiology: Possible association with maternal thrombophilia. ( 27530094 )
2016
43
Direct Oral Anticoagulants in Patients with Thrombophilia: Challenges in Diagnostic Evaluation and Treatment. ( 28028988 )
2016
44
Fatal Pulmonary Embolism Due to Inherited Thrombophilia Factors in a Child With Wolfram Syndrome. ( 27379531 )
2016
45
Living with a long-term condition: Understanding well-being for individuals with thrombophilia or asthma. ( 27534945 )
2016
46
Asynchronous Bilateral Renal Infarction and Thrombophilia With Associated Gene Mutations in a 43-Year-Old Man: A Case Report. ( 27057875 )
2016
47
The Impact of Inherited Thrombophilia Types and Low Molecular Weight Heparin Treatment on Pregnancy Complications in Women with Previous Adverse Outcome. ( 27401656 )
2016
48
Prethrombotic, prothrombotic, thrombophilic states, hypercoagulable state, thrombophilia etc.: semantics should be respected even in medical papers. ( 27864647 )
2016
49
A meta-analysis of low-molecular-weight heparin to prevent pregnancy loss in women with inherited thrombophilia. ( 26837697 )
2016
50
Inpatient inherited thrombophilia testing. ( 27782379 )
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
12.02 F2 PROC PROCR PROS1 THBD
4 11.91 F2 F3 F5 F8 F9 PROC
5
Show member pathways
11.77 F2 F9 PROC PROS1
6 11.7 F3 JAK2 SERPINE1 THBD
7
Show member pathways
11.64 F2 F3 F5 F8 F9 PROC
8 10.8 F2 F9 PROC PROS1
9 10.57 HRG SERPINE1

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 9.93 APOH F2 F3 F5 F8 F9
2 cell surface GO:0009986 9.85 APOH F3 HRG PROCR THBD
3 extracellular matrix GO:0031012 9.8 APOH F3 SERPINE1 VWF
4 endoplasmic reticulum lumen GO:0005788 9.8 F2 F5 F8 F9 PROC SERPINC1
5 blood microparticle GO:0072562 9.71 F2 HRG PROS1 SERPINC1
6 Golgi lumen GO:0005796 9.67 F2 F9 PROC PROS1
7 platelet alpha granule GO:0031091 9.48 F5 VWF
8 extracellular region GO:0005576 9.47 APOH F2 F3 F5 F8 F9
9 platelet alpha granule lumen GO:0031093 9.43 F5 F8 HRG PROS1 SERPINE1 VWF
10 plasma membrane GO:0005886 10.21 F2 F3 F5 F8 F9 HRG
11 extracellular exosome GO:0070062 10.06 APOH F2 F3 F9 HRG PROCR

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

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.95 F2 F5 PROC SERPINC1 SERPIND1
2 ER to Golgi vesicle-mediated transport GO:0006888 9.95 F2 F5 F8 F9 PROC PROS1
3 leukocyte migration GO:0050900 9.93 F2 PROC PROCR PROS1 THBD
4 post-translational protein modification GO:0043687 9.91 F5 PROC SERPINC1 SERPIND1
5 negative regulation of endopeptidase activity GO:0010951 9.91 HRG PROS1 SERPINC1 SERPIND1 SERPINE1
6 platelet degranulation GO:0002576 9.91 APOH F5 F8 HRG PROS1 SERPINE1
7 platelet activation GO:0030168 9.86 F2 F8 HRG VWF
8 regulation of blood coagulation GO:0030193 9.8 APOH F2 HRG SERPINC1
9 blood coagulation GO:0007596 9.8 F2 F3 F5 F8 F9 HRG
10 negative regulation of peptidase activity GO:0010466 9.77 SERPINC1 SERPIND1 SERPINE1
11 fibrinolysis GO:0042730 9.76 F2 HRG PROS1 SERPINE1
12 signal peptide processing GO:0006465 9.73 F2 F9 PROC PROS1
13 blood coagulation, intrinsic pathway GO:0007597 9.72 APOH F2 F8 F9 VWF
14 peptidyl-glutamic acid carboxylation GO:0017187 9.71 F2 F9 PROC PROS1
15 positive regulation of blood coagulation GO:0030194 9.7 APOH F2 SERPINE1
16 negative regulation of blood coagulation GO:0030195 9.65 APOH PROC PROS1 SERPINE1 THBD
17 negative regulation of platelet activation GO:0010544 9.59 F2 THBD
18 negative regulation of cell adhesion mediated by integrin GO:0033629 9.58 HRG SERPINE1
19 negative regulation of coagulation GO:0050819 9.58 PROC PROCR
20 blood coagulation, extrinsic pathway GO:0007598 9.57 F3 F9
21 negative regulation of fibrinolysis GO:0051918 9.55 APOH F2 HRG SERPINE1 THBD
22 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 9.8 F2 F9 PROC PROS1 THBD
2 serine-type endopeptidase activity GO:0004252 9.62 F2 F3 F9 PROC
3 peptidase inhibitor activity GO:0030414 9.54 SERPINC1 SERPIND1 SERPINE1
4 protease binding GO:0002020 9.46 F3 SERPINC1 SERPINE1 VWF
5 immunoglobulin binding GO:0019865 9.26 HRG VWF
6 serine-type endopeptidase inhibitor activity GO:0004867 9.26 HRG SERPINC1 SERPIND1 SERPINE1
7 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
28 GO
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