MCID: PRT114
MIFTS: 25

Prothrombin Thrombophilia

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

Aliases & Classifications for Prothrombin Thrombophilia

MalaCards integrated aliases for Prothrombin Thrombophilia:

Name: Prothrombin Thrombophilia 12 25 43 15
Prothrombin G20210a Thrombophilia 25 43
Hyperprothrombinemia 43

Classifications:



External Ids:

Disease Ontology 12 DOID:0080701

Summaries for Prothrombin Thrombophilia

MedlinePlus Genetics : 43 Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. People who have prothrombin thrombophilia are at somewhat higher than average risk for a type of clot called a deep venous thrombosis, which typically occurs in the deep veins of the legs. Affected people also have an increased risk of developing a pulmonary embolism, which is a clot that travels through the bloodstream and lodges in the lungs. Most people with prothrombin thrombophilia never develop abnormal blood clots, however.Some research suggests that prothrombin thrombophilia is associated with a somewhat increased risk of pregnancy loss (miscarriage) and may also increase the risk of other complications during pregnancy. These complications may include pregnancy-induced high blood pressure (preeclampsia), slow fetal growth, and early separation of the placenta from the uterine wall (placental abruption). It is important to note, however, that most women with prothrombin thrombophilia have normal pregnancies.

MalaCards based summary : Prothrombin Thrombophilia, also known as prothrombin g20210a thrombophilia, is related to thrombophilia due to thrombin defect and thrombophilia due to activated protein c resistance. An important gene associated with Prothrombin Thrombophilia is MTHFR (Methylenetetrahydrofolate Reductase). Affiliated tissues include placenta and breast.

Disease Ontology : 12 A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has material basis in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11.

GeneReviews: NBK1148

Related Diseases for Prothrombin Thrombophilia

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

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 thrombophilia due to thrombin defect 31.1 MTHFR HABP2 F2 F13A1
2 thrombophilia due to activated protein c resistance 30.1 MTHFR F2
3 placental abruption 30.0 MTHFR F2
4 thrombophilia 28.8 MTHFR HRG HABP2 F2 F13A1
5 spinal cord infarction 10.1 MTHFR F2
6 cutaneous collagenous vasculopathy 10.1
7 lateral sinus thrombosis 10.1 MTHFR F2
8 sudden sensorineural hearing loss 10.1 MTHFR F2
9 lemierre's syndrome 10.1 MTHFR F2
10 livedoid vasculitis 10.1 MTHFR F2
11 intracranial sinus thrombosis 10.1 MTHFR F2
12 arteritic anterior ischemic optic neuropathy 10.1 MTHFR F2
13 cerebral sinovenous thrombosis 10.1 MTHFR F2
14 cryptogenic cirrhosis 10.1 MTHFR F2
15 branch retinal artery occlusion 10.1 MTHFR F2
16 retinal artery occlusion 10.1 MTHFR F2
17 mastoiditis 10.1 MTHFR F2
18 intracranial vasospasm 10.1 MTHFR F2
19 central retinal artery occlusion 10.1 MTHFR F2
20 intracranial thrombosis 10.1 MTHFR F2
21 thrombophlebitis 10.1 MTHFR F2
22 retinal vascular occlusion 10.1 MTHFR F2
23 thrombasthenia 10.1 MTHFR F2
24 central retinal vein occlusion 10.1 MTHFR F2
25 retinal vein occlusion 10.1 MTHFR F2
26 antithrombin iii deficiency 10.1 MTHFR F2
27 gastroschisis 10.1 MTHFR F2
28 pulmonary artery disease 10.1 MTHFR F2
29 protein s deficiency 10.1 MTHFR F2
30 chronic venous insufficiency 10.1 MTHFR F2
31 venous insufficiency 10.1 MTHFR F2
32 portal vein thrombosis 10.1 MTHFR F2
33 hepatic vascular disease 10.1 MTHFR F2
34 autoimmune disease of cardiovascular system 10.1 MTHFR F2
35 vein disease 10.1 MTHFR F2
36 blood protein disease 10.1 MTHFR F2
37 nephrosclerosis 10.1 MTHFR F2
38 intracranial hypertension 10.1 MTHFR F2
39 vertical talus, congenital 10.1 MTHFR F2
40 porencephaly 10.1 MTHFR F2
41 nonarteritic anterior ischemic optic neuropathy 10.1 MTHFR F2
42 dysfibrinogenemia, congenital 10.1 F2 F13A1
43 budd-chiari syndrome 10.1 MTHFR F2
44 osteonecrosis 10.1 MTHFR F2
45 factor xiii deficiency 10.1 F2 F13A1
46 amino acid metabolic disorder 10.1 MTHFR F2
47 varicose veins 10.0 MTHFR F2
48 eclampsia 10.0 MTHFR F2
49 homocysteinemia 10.0 MTHFR F2
50 moyamoya disease 1 10.0 MTHFR F2

Graphical network of the top 20 diseases related to Prothrombin Thrombophilia:



Diseases related to Prothrombin Thrombophilia

Symptoms & Phenotypes for Prothrombin Thrombophilia

Drugs & Therapeutics for Prothrombin Thrombophilia

Search Clinical Trials , NIH Clinical Center for Prothrombin Thrombophilia

Genetic Tests for Prothrombin Thrombophilia

Anatomical Context for Prothrombin Thrombophilia

MalaCards organs/tissues related to Prothrombin Thrombophilia:

40
Placenta, Breast

Publications for Prothrombin Thrombophilia

Articles related to Prothrombin Thrombophilia:

(show top 50) (show all 133)
# Title Authors PMID Year
1
American Society of Hematology 2020 guidelines for management of venous thromboembolism: treatment of deep vein thrombosis and pulmonary embolism. 25
33007077 2020
2
Linkage analysis combined with whole-exome sequencing identifies a novel prothrombin (F2) gene mutation in a Dutch Caucasian family with unexplained thrombosis. 25
31582550 2020
3
American Society of Hematology 2019 guidelines for management of venous thromboembolism: prevention of venous thromboembolism in surgical hospitalized patients. 25
31794602 2019
4
Sex matters: Practice 5P's when treating young women with venous thromboembolism. 25
31220399 2019
5
Thrombophilia, risk factors and prevention. 25
30773075 2019
6
American Society of Hematology 2018 guidelines for management of venous thromboembolism: prophylaxis for hospitalized and nonhospitalized medical patients. 25
30482763 2018
7
American Society of Hematology 2018 Guidelines for management of venous thromboembolism: treatment of pediatric venous thromboembolism. 25
30482766 2018
8
American Society of Hematology 2018 guidelines for management of venous thromboembolism: venous thromboembolism in the context of pregnancy. 25
30482767 2018
9
American Society of Hematology 2018 guidelines for management of venous thromboembolism: optimal management of anticoagulation therapy. 25
30482765 2018
10
Management of thrombosis in children and neonates: practical use of anticoagulants in children. 25
30504338 2018
11
Risk of venous thromboembolism events in postmenopausal women using oral versus non-oral hormone therapy: A systematic review and meta-analysis. 25
29936403 2018
12
Thrombophilia testing in children: What and when should be tested? 25
29518638 2018
13
Outcome of Patients with Venous Thromboembolism and Factor V Leiden or Prothrombin 20210 Carrier Mutations During the Course of Anticoagulation. 25
27986523 2017
14
Inherited Thrombophilia in Pediatric Venous Thromboembolic Disease: Why and Who to Test. 25
28352625 2017
15
Hereditary risk factors for thrombophilia and probability of venous thromboembolism during pregnancy and the puerperium. 25
27613196 2016
16
Combined oral contraceptives, thrombophilia and the risk of venous thromboembolism: a systematic review and meta-analysis. 25
27121914 2016
17
New Prothrombin Mutation (Arg596Trp, Prothrombin Padua 2) Associated With Venous Thromboembolism. 25
27013614 2016
18
A meta-analysis of low-molecular-weight heparin to prevent pregnancy loss in women with inherited thrombophilia. 25
26837697 2016
19
Antithrombotic Therapy for VTE Disease: CHEST Guideline and Expert Panel Report. 25
26867832 2016
20
Prevalence and Geographical Variation of Prothrombin G20210A Mutation in Patients with Cerebral Vein Thrombosis: A Systematic Review and Meta-Analysis. 25
27031503 2016
21
Thrombophilia: clinical-practical aspects. 25
25724822 2015
22
Manifestations and clinical impact of pediatric inherited thrombophilia. 25
25564402 2015
23
Hormone replacement therapy and venous thromboembolism. 25
24007716 2014
24
Risk of Budd-Chiari syndrome associated with factor V Leiden and G20210A prothrombin mutation: a meta-analysis. 25
24755609 2014
25
Cerebral venous thrombosis and thrombophilia: a systematic review and meta-analysis. 25
24129682 2013
26
A novel prothrombin mutation in two families with prominent thrombophilia--the first cases of antithrombin resistance in a Caucasian population. 25
23927452 2013
27
Testing for inherited thrombophilia and consequences for antithrombotic prophylaxis in patients with venous thromboembolism and their relatives. A review of the Guidelines from Scientific Societies and Working Groups. 25
23846575 2013
28
ACOG Practice Bulletin No. 138: Inherited thrombophilias in pregnancy. 25
23963422 2013
29
ACOG committee opinion no. 556: Postmenopausal estrogen therapy: route of administration and risk of venous thromboembolism. 25
23635705 2013
30
Molecular defect of 'Prothrombin Amrita': substitution of arginine by glutamine (Arg553 to Gln) near the Na(+) binding loop of prothrombin. 25
23265743 2013
31
The risk of venous thrombosis in women over 50 years old using oral contraception or postmenopausal hormone therapy. 25
23136837 2013
32
Venous thromboembolism risk in relation to use of different types of postmenopausal hormone therapy in a large prospective study. 25
22963114 2012
33
Guidelines on the investigation and management of venous thrombosis at unusual sites. 25
22881455 2012
34
Thrombosis from a prothrombin mutation conveying antithrombin resistance. 25
22716977 2012
35
Antithrombotic therapy for VTE disease: Antithrombotic Therapy and Prevention of Thrombosis, 9th ed: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines. 25
22315268 2012
36
Thrombophilia in childhood: to test or not to test. 25
22187402 2011
37
In families with inherited thrombophilia the risk of venous thromboembolism is dependent on the clinical phenotype of the proband. 25
21833444 2011
38
Prothrombotic gene polymorphisms: possible contributors to hepatic artery thrombosis after orthotopic liver transplantation. 25
21836539 2011
39
Thrombotic risk during oral contraceptive use and pregnancy in women with factor V Leiden or prothrombin mutation: a rational approach to contraception. 25
21659542 2011
40
Factor XIII and venous thromboembolism. 25
21455864 2011
41
Recommendations from the EGAPP Working Group: routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members. 25
21150787 2011
42
Risk assessment for recurrent venous thrombosis. 25
21131039 2010
43
Risk of venous thrombosis in pregnancy among carriers of the factor V Leiden and the prothrombin gene G20210A polymorphisms. 25
20735725 2010
44
Hormone replacement therapy and the risk of venous thromboembolism: a population-based study. 25
20230416 2010
45
Extended case-control study results on thromboembolic outcomes among transdermal contraceptive users. 25
20399947 2010
46
Prothrombin G20210A carriers the genetic mutation and a history of venous thrombosis contributes to thrombin generation independently of factor II plasma levels. 25
20096005 2010
47
Impact of thrombophilia on risk of arterial ischemic stroke or cerebral sinovenous thrombosis in neonates and children: a systematic review and meta-analysis of observational studies. 25
20385928 2010
48
Postmenopausal hormone therapy and risk of idiopathic venous thromboembolism: results from the E3N cohort study. 25
19834106 2010
49
Thrombophilic factors do not predict outcomes in renal transplant recipients under prophylactic acetylsalicylic acid. 25
19845577 2010
50
Risk factors for clinical manifestations in carriers of Factor V Leiden and prothrombin gene mutations. 25
19474699 2010

Variations for Prothrombin Thrombophilia

Expression for Prothrombin Thrombophilia

Search GEO for disease gene expression data for Prothrombin Thrombophilia.

Pathways for Prothrombin Thrombophilia

GO Terms for Prothrombin Thrombophilia

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

# Name GO ID Score Top Affiliating Genes
1 platelet alpha granule lumen GO:0031093 9.16 HRG F13A1
2 collagen-containing extracellular matrix GO:0062023 9.13 HRG F2 F13A1
3 blood microparticle GO:0072562 8.8 HRG F2 F13A1

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

# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.43 HRG F2
2 antimicrobial humoral immune response mediated by antimicrobial peptide GO:0061844 9.4 HRG F2
3 fibrinolysis GO:0042730 9.37 HRG F2
4 regulation of blood coagulation GO:0030193 9.32 HRG F2
5 negative regulation of fibrinolysis GO:0051918 9.26 HRG F2
6 cytolysis by host of symbiont cells GO:0051838 9.16 HRG F2
7 hemostasis GO:0007599 9.13 HRG F2 F13A1
8 blood coagulation GO:0007596 8.92 HRG HABP2 F2 F13A1

Sources for Prothrombin Thrombophilia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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