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MCID: THR015
MIFTS: 57

Thrombophilia

Categories: Blood diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Thrombophilia

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MalaCards integrated aliases for Thrombophilia:

Name: Thrombophilia 12 29 55 6 3 44 15 40 73
Hypercoagulability State 12

Classifications:

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


External Ids:

Disease Ontology 12 DOID:2452
ICD10 33 D68.59
MeSH 44 D019851
NCIt 50 C84479
UMLS 73 C0398623
Sources

Summaries for Thrombophilia

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

MalaCards based summary : Thrombophilia, also known as hypercoagulability state, is related to antithrombin iii deficiency and protein c deficiency. An important gene associated with Thrombophilia is 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 Enoxaparin have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and endothelial, and related phenotypes are homeostasis/metabolism and cardiovascular system

Wikipedia : 76 Thrombophilia (sometimes hypercoagulability or a prothrombotic state) is an abnormality of blood... more...

Sources

Related Diseases for Thrombophilia

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Diseases in the Thrombophilia family:

Thrombophilia Due to Thrombin Defect Thrombophilia Due to Activated Protein C Resistance
Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator Thrombophilia Due to Thrombomodulin Defect
Prothrombin-Related Thrombophilia

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

(show top 50) (show all 277)
# Related Disease Score Top Affiliating Genes
1 antithrombin iii deficiency 34.1 APOH F2 F5 MTHFR SERPINC1
2 protein c deficiency 33.4 F2 F5 F9 HRG MTHFR PROC
3 livedoid vasculopathy 32.8 APOH F2 F5 MTHFR SERPINE1
4 thrombophilia due to activated protein c resistance 32.7 APOH F2 F3 F5 F8 F9
5 protein s deficiency 32.3 APOH F2 F3 F5 MTHFR PROS1
6 antiphospholipid syndrome 32.3 APOH F2 F3 F5 MTHFR SERPINC1
7 budd-chiari syndrome 32.2 APOH F2 F3 F5 JAK2 MTHFR
8 thrombophilia due to thrombin defect 31.6 APOH F13A1 F2 F3 F5 F8
9 osteonecrosis 31.4 F2 MTHFR SERPINC1 SERPINE1
10 sticky platelet syndrome 31.3 F5 SERPINC1 SERPINE1
11 placenta disease 31.2 APOH F3 F5 MTHFR SERPINC1
12 patent foramen ovale 31.2 F2 F5 MTHFR SERPINC1
13 amaurosis fugax 31.2 F5 MTHFR SERPINE1
14 eclampsia 31.1 F2 F5 MTHFR SERPINC1 THBD
15 nonarteritic anterior ischemic optic neuropathy 31.0 F2 F5 MTHFR SERPINC1
16 lateral sinus thrombosis 30.9 F9 MTHFR
17 retinal vascular occlusion 30.9 APOH F2 F5 MTHFR SERPINC1
18 arteriovenous fistula 30.9 APOH PROCR
19 homocystinuria 30.9 F5 MTHFR SERPINC1
20 central retinal vein occlusion 30.9 APOH F2 F5 MTHFR SERPINC1
21 ischemic optic neuropathy 30.9 APOH F2 F5 MTHFR SERPINC1
22 legg-calve-perthes disease 30.8 F5 SERPINC1 SERPINE1 THBD
23 porencephaly 30.8 F2 F5 MTHFR
24 retinal vein occlusion 30.8 APOH F2 F5 MTHFR SERPINC1 SERPINE1
25 arteritic anterior ischemic optic neuropathy 30.8 F2 F5 MTHFR
26 post-thrombotic syndrome 30.8 F2 F5 F8 SERPINC1 SERPINE1
27 cerebral sinovenous thrombosis 30.7 APOH F2 F3 F5 PROS1
28 infective endocarditis 30.7 APOH F2 SERPINE1
29 endocarditis 30.7 APOH F2 SERPINC1
30 catastrophic antiphospholipid syndrome 30.6 APOH F3 F5 MTHFR PROC SERPINE1
31 placental abruption 30.6 APOH F2 F5 MTHFR SERPINC1 THBD
32 acute myocardial infarction 30.6 F3 SERPINC1 SERPINE1 VWF
33 varicose veins 30.6 F2 F5 MTHFR SERPINC1 VWF
34 buerger disease 30.5 APOH F2 MTHFR SERPINE1
35 portal vein thrombosis 30.5 APOH F2 F5 JAK2 MTHFR SERPINC1
36 venous insufficiency 30.5 F2 SERPINE1 VWF
37 pulmonary embolism 30.5 APOH F2 F3 F5 F9 MTHFR
38 thrombocytosis 30.4 F2 F3 JAK2 SERPINC1
39 vasculitis 30.4 APOH THBD VWF
40 polycythemia vera 30.3 F5 JAK2 THBD
41 dysfibrinogenemia 30.3 F13A1 F2 F5 SERPINC1 SERPIND1 THBD
42 hemophilia 30.3 F2 F3 F8 F9 VWF
43 branch retinal artery occlusion 30.3 APOH F2 F3 MTHFR SERPINC1
44 coronary thrombosis 30.2 F3 SERPINC1 SERPINE1 VWF
45 thrombotic thrombocytopenic purpura 30.2 APOH F3 THBD VWF
46 arteries, anomalies of 30.1 F2 F3 MTHFR SERPINC1 SERPINE1 VWF
47 cerebrovascular disease 30.1 F2 F5 MTHFR SERPINE1 VWF
48 purpura fulminans 30.1 F2 F3 PROC PROCR PROS1 SERPINC1
49 retinal artery occlusion 30.0 APOH F2 F5 F8 MTHFR SERPINC1
50 lemierre's syndrome 30.0 F11 F3 MTHFR SERPINE1

Graphical network of the top 20 diseases related to Thrombophilia:



Diseases related to Thrombophilia
Sources

Symptoms & Phenotypes for Thrombophilia

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MGI Mouse Phenotypes related to Thrombophilia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.35 VWF SERPINC1 MTHFR SERPIND1 PROC SERPINE1
2 cardiovascular system MP:0005385 10.3 VWF SERPINC1 SERPIND1 PROC SERPINE1 PROCR
3 hematopoietic system MP:0005397 10.28 VWF SERPINC1 SERPIND1 PROC SERPINE1 PROCR
4 immune system MP:0005387 10.13 VWF SERPINC1 PROC SERPINE1 PROCR THBD
5 embryo MP:0005380 10.09 JAK2 SERPINC1 PROCR THBD PROS1 F3
6 mortality/aging MP:0010768 9.93 VWF SERPINC1 MTHFR SERPIND1 PROC SERPINE1
7 integument MP:0010771 9.86 PROS1 JAK2 MTHFR SERPINE1 THBD F3
8 liver/biliary system MP:0005370 9.85 SERPINC1 PROC SERPINE1 THBD PROS1 JAK2
9 respiratory system MP:0005388 9.17 THBD PROC SERPINE1 F3 F11 F13A1
Sources

Drugs & Therapeutics for Thrombophilia

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

(show top 50) (show all 221)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dalteparin Approved Phase 4,Phase 3,Not Applicable 9005-49-6
2
Enoxaparin Approved Phase 4,Phase 3,Not Applicable 9005-49-6 772
3
Heparin Approved, Investigational Phase 4,Phase 3,Not Applicable 9005-49-6 772 46507594
4
Aspirin Approved, Vet_approved Phase 4,Phase 3,Not Applicable 50-78-2 2244
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
Serine Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 56-45-1 5951
9
Choline Approved, Nutraceutical Phase 4 62-49-7 305
10 tannic acid Approved, Nutraceutical Phase 4,Phase 3
11 Anticoagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
12 calcium heparin Phase 4,Phase 3,Not Applicable
13 Fibrinolytic Agents Phase 4,Phase 3,Phase 2,Not Applicable
14 Heparin, Low-Molecular-Weight Phase 4,Phase 3,Not Applicable
15 Micronutrients Phase 4,Phase 3,Not Applicable
16 Trace Elements Phase 4,Phase 3,Not Applicable
17 Calcium, Dietary Phase 4,Phase 3,Not Applicable
18 Antibodies Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Antibodies, Antiphospholipid Phase 4,Phase 3,Not Applicable
20 Antithrombin III Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
21 Antithrombins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
22 Factor Xa Inhibitors Phase 4,Phase 3
23 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
24 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
26 Serine Proteinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
27 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
28 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
29 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
30 Analgesics Phase 4,Phase 3,Phase 2,Not Applicable
31 Analgesics, Non-Narcotic Phase 4,Phase 3,Not Applicable
32 Anti-Inflammatory Agents Phase 4,Phase 3,Not Applicable
33 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Not Applicable
34 Antipyretics Phase 4,Phase 3,Not Applicable
35 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Cyclooxygenase Inhibitors Phase 4,Phase 3,Not Applicable
37 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
38 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Factor VIII Phase 4,Phase 1,Phase 2,Not Applicable
40 Anti-Infective Agents Phase 4,Phase 3,Early Phase 1
41 Lactoferrin Phase 4
42 Adrenergic Agents Phase 4,Phase 2
43 Adrenergic Agonists Phase 4
44 Adrenergic beta-2 Receptor Agonists Phase 4
45 Adrenergic beta-Agonists Phase 4
46 Albuterol Phase 4
47 Anti-Asthmatic Agents Phase 4,Phase 2
48 Autonomic Agents Phase 4,Phase 2,Not Applicable
49 Bronchodilator Agents Phase 4,Phase 2
50 Respiratory System Agents Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 248)
# 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 Rivaroxaban for Antiphospholipid Antibody Syndrome Completed NCT02116036 Phase 4 Rivaroxaban
8 Nebulized Heparin and Salbutamol in Mechanically Ventilated Patients With AECOPD Completed NCT03333395 Phase 4 Nebulized heparin and salbutamol;Nebulized salbutamol
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 Aspirin and Enoxaparin for VTE in Trauma Recruiting NCT02396732 Phase 4 Aspirin;Enoxaparin
13 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
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 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
21 Effects of the Concentrated Extract of Soy on Coagulation Factors After Menopause Unknown status NCT00925639 Phase 3 Isoflavone;Placebo
22 D-Dimer Guided Oral Anticoagulant Treatment (OAT) Unknown status NCT00895505 Phase 3 Phenprocoumon;Warfarin-Natrium
23 Efficacy and Safety of Unfractionated Heparin on Severe Sepsis With Suspected Disseminated Intravascular Coagulation Unknown status NCT02654561 Phase 3 Heparin Sodium;Saline
24 TIPPS: Thrombophilia in Pregnancy Prophylaxis Study Completed NCT00967382 Phase 3 dalteparin sodium
25 Low Weight Heparin prOphylaxis for Placental‐Mediated Complications of PrEgnancy Completed NCT01388322 Phase 3 Enoxaparin
26 Low Molecular Weight Heparin and/or Aspirin in Prevention of Habitual Abortion Completed NCT00959621 Phase 3 Aspirin;Klexane;Klexane and ASA
27 Vitamins C and Vitamin E and Cardiovascular Risk Completed NCT00362518 Phase 3
28 An Open-label Study of KW-3357 Completed NCT01384903 Phase 3 KW-3357;Plasma-derived antithrombin
29 A Clinical Study of KW-3357 in Patients With DIC Completed NCT01384396 Phase 3 KW-3357
30 Prevention of Maternal and Perinatal Complications by Enoxaparin in Women With Previous Severe Preeclampsia Completed NCT00986765 Phase 3 Lovenox® (enoxaparin);Aspegic ® (Aspirin)
31 Study of Recombinant Factor IX Product, IB1001, in Previously Treated Pediatric Subjects With Hemophilia B Completed NCT01271868 Phase 3 Recombinant factor IX Product, IB1001
32 N-Acetylcysteine in Patients With Sickle Cell Disease Completed NCT01849016 Phase 3 N-Acetylcysteine;Placebo
33 Efficacy and Safety Study of Protein C Concentrate in Subjects With Severe Congenital Protein C Deficiency Completed NCT00157118 Phase 2, Phase 3 Protein C Concentrate (Human) Vapor Heated
34 Recombinant Human Antithrombin (rhAT) in Patients With Hereditary Antithrombin Deficiency Undergoing Surgery or Delivery Completed NCT00110513 Phase 3
35 Study of Recombinant Factor IX Product, IB1001, in Subjects With Hemophilia B Completed NCT00768287 Phase 2, Phase 3
36 Phase III Trial With Caplacizumab in Patients With Acquired Thrombotic Thrombocytopenic Purpura Completed NCT02553317 Phase 3
37 Study of Cyclosporine or Corticosteroids as an Adjunct to Plasma Exchange in Thrombotic Thrombocytopenic Purpura (TTP) Completed NCT00713193 Phase 3 Cyclosporine;Prednisone
38 Assess Incidence of Deep Vein Thrombosis(DVT)Following Administration of Recombinant Human Antithrombin (rhAT) to Hereditary Antithrombin(AT) Deficient Patients in High Risk Situations. Completed NCT00056550 Phase 3
39 Hydroxychloroquine for Prevention of Recurrent Miscarriage. Recruiting NCT03165136 Phase 3 Hydroxychloroquine;Placebo
40 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
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 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
43 Xarelto Versus no Treatment for the Prevention of Recurrent Thrombosis in Patients With Chronic Portal Vein Thrombosis. Active, not recruiting NCT02555111 Phase 3 Xarelto
44 Safety, Pharmacokinetics and Efficacy of an AT-III Concentrate. Active, not recruiting NCT00319228 Phase 2, Phase 3 Plasma-derived AT-III concentrate
45 A Phase 3, Randomized, Controlled Study of Prophylactic and On-demand Treatment of cTTP With BAX 930 (rADAMTS13) Active, not recruiting NCT03393975 Phase 3
46 Follow-up Study for Patients Who Completed Study ALX0681-C301 (Post-HERCULES) Active, not recruiting NCT02878603 Phase 3
47 Magnesium Sulfate in Thrombotic Thrombocytopenic Purpura in Intensive Care Not yet recruiting NCT03237819 Phase 3 Sulfate, Magnesium;Placebo - Concentrate
48 Prevention of Unexplained Recurrent Abortion by Enoxaparine Terminated NCT00740545 Phase 3 enoxaparine 40 mg daily;placebo
49 Weight Adjusted Low Molecular Weight Heparin in Recurrent Implantation Failure: a Randomized Open Labeled Trial Terminated NCT02991950 Phase 3 Parnaparin Sodium
50 A Phase 3 Clinical Study of KW-3357 in Patients With DIC Terminated NCT01384409 Phase 3 KW-3357

Search NIH Clinical Center for Thrombophilia

Cochrane evidence based reviews: thrombophilia

Sources

Genetic Tests for Thrombophilia

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Genetic tests related to Thrombophilia:

# Genetic test Affiliating Genes
1 Thrombophilia 29 F13A1 F2 HABP2 MTHFR
Sources

Anatomical Context for Thrombophilia

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MalaCards organs/tissues related to Thrombophilia:

41
Testes, Liver, Endothelial, Heart, Placenta, Lung, Thyroid
Sources

Publications for Thrombophilia

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Articles related to Thrombophilia:

(show top 50) (show all 1234)
# Title Authors Year
1
Blocking Properdin Prevents Complement-Mediated Hemolytic Uremic Syndrome and Systemic Thrombophilia. ( 29858280 )
2018
2
Association between thrombophilia gene polymorphisms and recurrent pregnancy loss risk in the Iranian population. ( 29658346 )
2018
3
Congenital Thrombophilia in Patients With Superior Mesenteric Venous Thrombosis or Portal Vein Thrombosis. ( 29747524 )
2018
4
Conservative management of neonatal cerebral sinovenous thrombosis with coexisting thrombophilia. ( 29708897 )
2018
5
Can thrombophilia predict recurrent catheter-related deep vein thrombosis in children? ( 29724900 )
2018
6
Direct oral anticoagulant use in patients with thrombophilia, antiphospholipid syndrome or venous thrombosis of unusual sites: A narrative review. ( 29402471 )
2018
7
Mesoaortic compression of a left-sided inferior vena-cava presenting as recurrent pulmonary embolism in a child-a novel anatomic thrombophilia? ( 29350462 )
2018
8
Phosphatidylserine-exposing blood and endothelial cells contribute to the hypercoagulable state in essential thrombocythemia patients. ( 29332224 )
2018
9
Strengthening the Case for the Role of Thrombophilia in Calciphylaxis. ( 29955798 )
2018
10
Strengthening the Case for the Role of Thrombophilia in Calciphylaxis. ( 29955772 )
2018
11
Inherited Thrombophilia and Pregnancy Complications: Should We Test? ( 29864774 )
2018
12
Do hospital doctors test for thrombophilia in patients with venous thromboembolism? ( 29922879 )
2018
13
Role of thrombophilia in splanchnic venous thrombosis in acute pancreatitis. ( 29720864 )
2018
14
Maternal Thrombophilia and Recurrent Miscarriage - Is There Evidence That Heparin is Indicated as Prophylaxis against Recurrence? ( 29576632 )
2018
15
Thrombophilia-Associated Factors in Patients with Spontaneous Osteonecrosis of the Knee. ( 29308659 )
2018
16
Myocardial infarction and thrombophilia: Do not miss the right diagnosis! ( 29254740 )
2018
17
The association between otogenic lateral sinus thrombosis and thrombophilia - A long-term follow-up. ( 29530427 )
2018
18
High-Mobility Group Box 1 From Hypoxic Trophoblasts Promotes Endothelial Microparticle Production and Thrombophilia in Preeclampsia. ( 29650693 )
2018
19
Thrombophilia and Recurrent Pregnancy Loss: The Enigma Continues. ( 29932168 )
2018
20
Frequency and characteristics associated with inherited thrombophilia in patients with intracranial dural arteriovenous fistula. ( 29624150 )
2018
21
Hereditary thrombophilia in trauma patients with venous thromboembolism: Is routine screening necessary? ( 29194315 )
2018
22
Gastrointestinal: Duodenal variceal bleeding secondary to thrombophilia-related portal vein thrombosis. ( 29372608 )
2018
23
The authors respond to "Thrombophilia testing in venous thromboembolism". ( 29440340 )
2018
24
Detection of high-risk thrombophilia with an automated, global test: the Coagulation Inhibitor Potential assay. ( 29782332 )
2018
25
Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia. ( 29374276 )
2018
26
Inpatient thrombophilia testing: Impact of healthcare system technology and targeted clinician education on changing practice patterns. ( 29153040 )
2018
27
Frequency and clinical implications of hypercoagulability states in a cohort of patients with migraine with aura. ( 29904875 )
2018
28
Correction: Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia. ( 29980747 )
2018
29
Thromboprophylaxis in pregnant women with thrombophilia and a history of thrombosis. ( 29949514 )
2018
30
Neonatal Arterial Ischemic Stroke: Risk Related to Family History, Maternal Diseases, and Genetic Thrombophilia. ( 29108421 )
2018
31
Effects of multiple inherited and acquired thrombophilia on outcomes of in-vitro fertilization. ( 29772490 )
2018
32
Thrombophilia testing in venous thromboembolism. ( 29440339 )
2018
33
Activated Factor X-Based versus Thrombin-Based Antithrombin Testing in Thrombophilia Workup in the DOAC Era. ( 29378360 )
2018
34
Amputees at High Altitude: The Potentially Sticky Issue of Thrombophilia. ( 29717894 )
2018
35
Whole Exome Sequencing Reveals Severe Thrombophilia in Acute Unprovoked Idiopathic Fatal Pulmonary Embolism. ( 28174134 )
2017
36
Murine systemic thrombophilia and hemolytic uremic syndrome from a factor H point mutation. ( 28057640 )
2017
37
Adverse pregnancy outcomes and inherited thrombophilia. ( 28792912 )
2017
38
Impact of thrombophilia screening on venous thromboembolism management practices. ( 27931012 )
2017
39
Association Between Inherited Thrombophilia in Pregnancy and Micronucleus Frequency in Peripheral Blood Lymphocytes. ( 29876228 )
2017
40
Prevalence of common hereditary risk factors for thrombophilia in Somalia and identification of a novel Gln544Arg mutation in coagulation factor V. ( 28889200 )
2017
41
Vascular Manifestations in Antiphospholipid Syndrome (APS): Is APS a Thrombophilia or a Vasculopathy? ( 28871481 )
2017
42
Assessment of Hereditary Thrombophilia: Performance of Protein C (PC) Testing. ( 28804825 )
2017
43
Genetic markers for inherited thrombophilia are associated with fetal growth retardation in the population of Central Russia. ( 28544373 )
2017
44
LABORATORY EVALUATION OF HYPERCOAGULABLE STATES IN PATIENTS WITH CENTRAL RETINAL VEIN OCCLUSION WHO ARE LESS THAN 56 YEARS OF AGE. ( 28613222 )
2017
45
Contribution of inherited thrombophilia to recurrent miscarriage in the Polish population. ( 28819944 )
2017
46
Stroke diagnosis associated with thrombophilia testing overutilization. ( 28753476 )
2017
47
Testing for heritable thrombophilia in acute venous thromboembolism. ( 28676580 )
2017
48
Inpatient Thrombophilia Testing: At What Expense? ( 28914288 )
2017
49
Letter to the Editor, The Authors Reply: "Cost and Utility of Thrombophilia Testing". ( 29190304 )
2017
50
Thrombophilia Testing and Venous Thrombosis. ( 29215221 )
2017
Sources

Variations for Thrombophilia

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ClinVar genetic disease variations for Thrombophilia:

6
(show top 50) (show all 306)
# Gene Variation Type Significance SNP ID Assembly Location
1 F2 NM_000506.4(F2): c.*97G> A single nucleotide variant Pathogenic rs1799963 GRCh37 Chromosome 11, 46761055: 46761055
2 F2 NM_000506.4(F2): c.*97G> A single nucleotide variant Pathogenic rs1799963 GRCh38 Chromosome 11, 46739505: 46739505
3 F5 NM_000130.4(F5): c.6443T> C (p.Met2148Thr) single nucleotide variant Likely benign rs9332701 GRCh37 Chromosome 1, 169484767: 169484767
4 F5 NM_000130.4(F5): c.6443T> C (p.Met2148Thr) single nucleotide variant Likely benign rs9332701 GRCh38 Chromosome 1, 169515529: 169515529
5 F5 NM_000130.4(F5): c.5419+12A> G single nucleotide variant Likely benign rs6009 GRCh37 Chromosome 1, 169498834: 169498834
6 F5 NM_000130.4(F5): c.5419+12A> G single nucleotide variant Likely benign rs6009 GRCh38 Chromosome 1, 169529596: 169529596
7 F5 NM_000130.4(F5): c.4095C> T (p.Thr1365=) single nucleotide variant Likely benign rs9332607 GRCh38 Chromosome 1, 169540995: 169540995
8 F5 NM_000130.4(F5): c.4095C> T (p.Thr1365=) single nucleotide variant Likely benign rs9332607 GRCh37 Chromosome 1, 169510233: 169510233
9 F5 NM_000130.4(F5): c.3948C> T (p.Leu1316=) single nucleotide variant Likely benign rs9287090 GRCh37 Chromosome 1, 169510380: 169510380
10 F5 NM_000130.4(F5): c.3948C> T (p.Leu1316=) single nucleotide variant Likely benign rs9287090 GRCh38 Chromosome 1, 169541142: 169541142
11 F5 NM_000130.4(F5): c.3853C> A (p.Leu1285Ile) single nucleotide variant Likely benign rs1046712 GRCh37 Chromosome 1, 169510475: 169510475
12 F5 NM_000130.4(F5): c.3853C> A (p.Leu1285Ile) single nucleotide variant Likely benign rs1046712 GRCh38 Chromosome 1, 169541237: 169541237
13 F5 NM_000130.4(F5): c.3804T> C (p.Ser1268=) single nucleotide variant Likely benign rs1800594 GRCh37 Chromosome 1, 169510524: 169510524
14 F5 NM_000130.4(F5): c.3804T> C (p.Ser1268=) single nucleotide variant Likely benign rs1800594 GRCh38 Chromosome 1, 169541286: 169541286
15 F5 NM_000130.4(F5): c.2773A> G (p.Lys925Glu) single nucleotide variant Likely benign rs6032 GRCh37 Chromosome 1, 169511555: 169511555
16 F5 NM_000130.4(F5): c.2773A> G (p.Lys925Glu) single nucleotide variant Likely benign rs6032 GRCh38 Chromosome 1, 169542317: 169542317
17 F5 NM_000130.4(F5): c.2594A> G (p.His865Arg) single nucleotide variant Likely benign rs4525 GRCh37 Chromosome 1, 169511734: 169511734
18 F5 NM_000130.4(F5): c.2594A> G (p.His865Arg) single nucleotide variant Likely benign rs4525 GRCh38 Chromosome 1, 169542496: 169542496
19 F5 NM_000130.4(F5): c.2450A> C (p.Asn817Thr) single nucleotide variant Likely benign rs6018 GRCh37 Chromosome 1, 169511878: 169511878
20 F5 NM_000130.4(F5): c.2450A> C (p.Asn817Thr) single nucleotide variant Likely benign rs6018 GRCh38 Chromosome 1, 169542640: 169542640
21 F5 NM_000130.4(F5): c.2425C> T (p.Pro809Ser) single nucleotide variant Likely benign rs6031 GRCh37 Chromosome 1, 169511903: 169511903
22 F5 NM_000130.4(F5): c.2425C> T (p.Pro809Ser) single nucleotide variant Likely benign rs6031 GRCh38 Chromosome 1, 169542665: 169542665
23 F5 NM_000130.4(F5): c.2301A> G (p.Ser767=) single nucleotide variant Likely benign rs6021 GRCh37 Chromosome 1, 169512027: 169512027
24 F5 NM_000130.4(F5): c.2301A> G (p.Ser767=) single nucleotide variant Likely benign rs6021 GRCh38 Chromosome 1, 169542789: 169542789
25 F5 NM_000130.4(F5): c.2289A> G (p.Glu763=) single nucleotide variant Likely benign rs6024 GRCh37 Chromosome 1, 169512039: 169512039
26 F5 NM_000130.4(F5): c.2289A> G (p.Glu763=) single nucleotide variant Likely benign rs6024 GRCh38 Chromosome 1, 169542801: 169542801
27 F5 NM_000130.4(F5): c.2235T> C (p.Asn745=) single nucleotide variant Likely benign rs6017 GRCh38 Chromosome 1, 169542855: 169542855
28 F5 NM_000130.4(F5): c.2235T> C (p.Asn745=) single nucleotide variant Likely benign rs6017 GRCh37 Chromosome 1, 169512093: 169512093
29 F5 NM_000130.4(F5): c.2208C> T (p.Ile736=) single nucleotide variant Likely benign rs6016 GRCh37 Chromosome 1, 169512120: 169512120
30 F5 NM_000130.4(F5): c.2208C> T (p.Ile736=) single nucleotide variant Likely benign rs6016 GRCh38 Chromosome 1, 169542882: 169542882
31 F5 NM_000130.4(F5): c.1926C> A (p.Thr642=) single nucleotide variant Likely benign rs6037 GRCh37 Chromosome 1, 169513583: 169513583
32 F5 NM_000130.4(F5): c.1926C> A (p.Thr642=) single nucleotide variant Likely benign rs6037 GRCh38 Chromosome 1, 169544345: 169544345
33 F5 NM_000130.4(F5): c.1716G> A (p.Glu572=) single nucleotide variant Likely benign rs6036 GRCh37 Chromosome 1, 169515726: 169515726
34 F5 NM_000130.4(F5): c.1716G> A (p.Glu572=) single nucleotide variant Likely benign rs6036 GRCh38 Chromosome 1, 169546488: 169546488
35 F5 NM_000130.4(F5): c.1380C> T (p.Asn460=) single nucleotide variant Likely benign rs6015 GRCh37 Chromosome 1, 169519894: 169519894
36 F5 NM_000130.4(F5): c.1380C> T (p.Asn460=) single nucleotide variant Likely benign rs6015 GRCh38 Chromosome 1, 169550656: 169550656
37 F5 NM_000130.4(F5): c.1238T> C (p.Met413Thr) single nucleotide variant Likely benign rs6033 GRCh37 Chromosome 1, 169521853: 169521853
38 F5 NM_000130.4(F5): c.1238T> C (p.Met413Thr) single nucleotide variant Likely benign rs6033 GRCh38 Chromosome 1, 169552615: 169552615
39 F5 NM_000130.4(F5): c.816C> T (p.Asn272=) single nucleotide variant Likely benign rs9332578 GRCh37 Chromosome 1, 169526020: 169526020
40 F5 NM_000130.4(F5): c.816C> T (p.Asn272=) single nucleotide variant Likely benign rs9332578 GRCh38 Chromosome 1, 169556782: 169556782
41 F5 NM_000130.4(F5): c.730+7C> T single nucleotide variant Likely benign rs6023 GRCh37 Chromosome 1, 169528384: 169528384
42 F5 NM_000130.4(F5): c.730+7C> T single nucleotide variant Likely benign rs6023 GRCh38 Chromosome 1, 169559146: 169559146
43 F5 NM_000130.4(F5): c.552G> T (p.Ser184=) single nucleotide variant Likely benign rs6022 GRCh37 Chromosome 1, 169529826: 169529826
44 F5 NM_000130.4(F5): c.552G> T (p.Ser184=) single nucleotide variant Likely benign rs6022 GRCh38 Chromosome 1, 169560588: 169560588
45 F5 NM_000130.4(F5): c.405G> A (p.Ala135=) single nucleotide variant Likely benign rs6029 GRCh37 Chromosome 1, 169529973: 169529973
46 F5 NM_000130.4(F5): c.405G> A (p.Ala135=) single nucleotide variant Likely benign rs6029 GRCh38 Chromosome 1, 169560735: 169560735
47 F5 NM_000130.4(F5): c.319G> C (p.Asp107His) single nucleotide variant Likely benign rs6019 GRCh37 Chromosome 1, 169541513: 169541513
48 F5 NM_000130.4(F5): c.319G> C (p.Asp107His) single nucleotide variant Likely benign rs6019 GRCh38 Chromosome 1, 169572275: 169572275
49 F5 NM_000130.4(F5): c.237A> G (p.Gln79=) single nucleotide variant Likely benign rs6028 GRCh38 Chromosome 1, 169582444: 169582444
50 F5 NM_000130.4(F5): c.237A> G (p.Gln79=) single nucleotide variant Likely benign rs6028 GRCh37 Chromosome 1, 169551682: 169551682

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
Sources

Expression for Thrombophilia

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Search GEO for disease gene expression data for Thrombophilia.
Sources

Pathways for Thrombophilia

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Pathways related to Thrombophilia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 13.19 APOH F11 F13A1 F2 F3 F5
2
Collagen chain trimerization 66
Show member pathways
 12.72 F11 F13A1 F2 F3 F5 F8
3
Cell surface interactions at the vascular wall 66
Show member pathways
 12.02 F2 PROC PROCR PROS1 THBD
4
Complement and coagulation cascades 1 37
11.97 F11 F13A1 F2 F3 F5 F8
5
Gamma carboxylation, hypusine formation and arylsulfatase activation 66
Show member pathways
 11.77 F2 F9 PROC PROS1
6
AGE-RAGE signaling pathway in diabetic complications 37
11.7 F3 JAK2 SERPINE1 THBD
7
Formation of Fibrin Clot (Clotting Cascade) 66
Show member pathways
 11.7 F11 F13A1 F2 F3 F5 F8
8
Warfarin Pathway, Pharmacodynamics 61
10.8 F2 F9 PROC PROS1
9
Dissolution of Fibrin Clot 66
10.57 HRG SERPINE1
Sources

GO Terms for Thrombophilia

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.89 APOH F3 HRG PROCR THBD
2 endoplasmic reticulum lumen GO:0005788 9.8 F2 F5 F8 F9 PROC SERPINC1
3 blood microparticle GO:0072562 9.77 F13A1 F2 HRG PROS1 SERPINC1
4 extracellular matrix GO:0031012 9.76 APOH F3 SERPINE1 VWF
5 Golgi lumen GO:0005796 9.71 F2 F9 PROC PROS1
6 extracellular region GO:0005576 9.55 APOH F11 F13A1 F2 F3 F5
7 platelet alpha granule lumen GO:0031093 9.5 F13A1 F5 F8 HRG PROS1 SERPINE1
8 platelet alpha granule GO:0031091 9.48 F5 VWF
9 plasma membrane GO:0005886 10.25 F11 F2 F3 F5 F8 F9
10 extracellular exosome GO:0070062 10.1 APOH F11 F2 F3 F9 HRG
11 extracellular space GO:0005615 10 APOH F11 F2 F3 F5 F8

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

(show all 21)
# 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 9.95 F2 F5 PROC SERPINC1 SERPIND1
3 leukocyte migration GO:0050900 9.93 F2 PROC PROCR PROS1 THBD
4 negative regulation of endopeptidase activity GO:0010951 9.91 HRG PROS1 SERPINC1 SERPIND1 SERPINE1
5 blood coagulation GO:0007596 9.89 F11 F13A1 F2 F3 F5 F8
6 platelet activation GO:0030168 9.86 F2 F8 HRG VWF
7 platelet degranulation GO:0002576 9.86 APOH F13A1 F5 F8 HRG PROS1
8 negative regulation of blood coagulation GO:0030195 9.8 APOH PROC PROS1 SERPINE1 THBD
9 signal peptide processing GO:0006465 9.78 F2 F9 PROC PROS1
10 regulation of blood coagulation GO:0030193 9.77 APOH F11 F2 HRG SERPINC1
11 fibrinolysis GO:0042730 9.76 F2 HRG PROS1 SERPINE1
12 peptidyl-glutamic acid carboxylation GO:0017187 9.73 F2 F9 PROC PROS1
13 negative regulation of fibrinolysis GO:0051918 9.72 APOH F2 HRG SERPINE1 THBD
14 positive regulation of blood coagulation GO:0030194 9.7 APOH F2 SERPINE1
15 blood coagulation, intrinsic pathway GO:0007597 9.63 APOH F11 F2 F8 F9 VWF
16 plasminogen activation GO:0031639 9.6 APOH F11
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 hemostasis GO:0007599 9.5 F11 F13A1 F2 F3 F5 F8

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.91 F2 F9 HABP2 PROC PROS1 THBD
2 peptidase activity GO:0008233 9.85 F11 F2 F9 HABP2 PROC
3 protease binding GO:0002020 9.62 F3 SERPINC1 SERPINE1 VWF
4 endopeptidase inhibitor activity GO:0004866 9.58 HRG PROS1 SERPIND1
5 serine-type endopeptidase inhibitor activity GO:0004867 9.56 HRG SERPINC1 SERPIND1 SERPINE1
6 serine-type peptidase activity GO:0008236 9.55 F11 F2 F9 HABP2 PROC
7 serine-type endopeptidase activity GO:0004252 9.43 F11 F2 F3 F9 HABP2 PROC
8 immunoglobulin binding GO:0019865 9.37 HRG VWF
9 heparin binding GO:0008201 9.1 APOH F11 F2 HRG SERPINC1 SERPIND1
Sources

Sources for Thrombophilia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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