MCID: THR015
MIFTS: 57

Thrombophilia malady

Genetic diseases (common), Blood diseases categories

Summaries for Thrombophilia

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Wikipedia:63 Thrombophilia (sometimes hypercoagulability or a prothrombotic state) is an abnormality of blood... more...

MalaCards based summary: Thrombophilia, also known as hypercoagulability state, is related to eclampsia and central retinal vein occlusion. An important gene associated with Thrombophilia is F2 (coagulation factor II (thrombin)), and among its related pathways are Syndecan-4-mediated signaling events and Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). The compounds inogatran and ecarin have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and placenta, and related mouse phenotypes are nervous system and liver/biliary system.

Aliases & Classifications for Thrombophilia

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Sources:
9Disease Ontology, 20GeneTests, 11DISEASES, 43Novoseek, 22GTR, 3CDC, 60UMLS, 55SNOMED-CT, 33MeSH
See all sources

Thrombophilia, Aliases & Descriptions:

Name: Thrombophilia 9 20 11 43 22 3 60
 
Hypercoagulability State 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Blood diseases


External Ids:

Disease Ontology9 DOID:2452
MeSH33 D019851

Related Diseases for Thrombophilia

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Diseases in the Thrombophilia family:

Thrombophilia Due to Activated Protein C Resistance Thrombophilia Due to Thrombin Defect
Thrombophilia Due to Thrombomodulin Defect Thrombophilia, Familial, Due to Decreased Release of Plat

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

(show top 50)    (show all 198)
idRelated DiseaseScoreTop Affiliating Genes
1eclampsia31.1THBD
2central retinal vein occlusion31.0F5
3thrombophilia due to antithrombin iii deficiency30.6PROS1, F2, F5
4factor xii deficiency30.5F5
5portal vein thrombosis30.5F5, F2, PROS1
6placental abruption30.4F5, F2, PROS1
7pulmonary embolism30.4F2, PROS1, F5, PLG
8hemophilia a30.3F5, F2
9antiphospholipid syndrome30.3F5, THBD, F2, PROS1
10hellp syndrome30.3F5, SERPINE1
11factor x deficiency30.2F5, F2
12myocardial infarction30.2HRG, SERPINE1, PLG, F5
13factor v leiden thrombophilia30.1F5, THBD, PLG, SERPINE1, F2
14coronary thrombosis30.1SERPINE1
15protein s deficiency30.1F2, F5, PROS1, SERPINE1
16vascular disease29.9THBD, SERPINE1, F5
17dysfibrinogenemia29.9F2, F5, THBD
18thrombocytosis29.9THBD, F2
19vasculitis29.9PROS1, THBD, F2
20acute myocardial infarction29.8THBD, PLG, HRG, SERPINE1
21thrombophilia due to activated protein c resistance29.8F2, THBD, SERPINE1, PLG, F5
22coronary artery disease29.8THBD, SERPINE1, PLG
23thrombocytopenia29.6F5, THBD, PLG, F2
24hyperhomocysteinemia29.4F2, HRG, F5, PROS1, SERPINE1, THBD
25primary hyperoxaluria29.3THBD, SERPINE1, PROS1
26protein c deficiency29.2THBD, SERPINE1, PROC, PROS1, PLG, F5
27thrombophilia due to thrombin defect29.2HRG, PLG, F5, PROC, SERPINE1, THBD
28prothrombin-related thrombophilia10.7
29hepatic vein thrombosis10.5PROS1
30factor xiii deficiency10.5F5
31retinitis10.5
32homocysteinemia10.5F5
33factor viii deficiency10.5F5
34cerebritis10.4
35mediterranean spotted fever10.4THBD
36osteonecrosis10.4
37afibrinogenemia, congenital10.4FGG
38retinal vein occlusion10.3
39hemophilia b10.3F2
40meningococcemia10.3F5, THBD
41sagittal sinus thrombosis10.3F5, PROS1
42thrombophilia due to protein s deficiency, autosomal recessive10.3
43thrombophilia due to hrg deficiency10.3
44factor xi deficiency, autosomal recessive10.3F2, F5
45stroke, ischemic10.3F2, F5
46intracranial thrombosis10.3F5, PLG
47hypoprothrombinemia10.3F2, F5
48thrombophilia due to thrombomodulin defect10.3
49infertility10.3
50pre-eclampsia10.3

Graphical network of the top 20 diseases related to Thrombophilia:



Diseases related to thrombophilia

Symptoms for Thrombophilia

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Drugs & Therapeutics for Thrombophilia

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Drug clinical trials:

Search ClinicalTrials for Thrombophilia

Search NIH Clinical Center for Thrombophilia

Genetic Tests for Thrombophilia

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Genetic tests related to Thrombophilia:

id Genetic test Affiliating Genes
1 Thrombophilia Multi-Gene Panels20
2 Thrombophilia20 22

Anatomical Context for Thrombophilia

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MalaCards organs/tissues related to Thrombophilia:

31
Testes, Liver, Placenta, Endothelial, Kidney, Bone, Heart, Eye, Colon, Lung, Thyroid, Breast, Ovary

Animal Models for Thrombophilia or affiliated genes

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MGI Mouse Phenotypes related to Thrombophilia:

35 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.8F5, PLG, PROS1, PROC, THBD, F2
2MP:00053707.7THBD, SERPINE1, PROC, PROS1, PLG, F5
3MP:00053807.7F2, THBD, PROS1, F5, FGG
4MP:00107717.7F2, THBD, SERPINE1, PROS1, PLG, F5
5MP:00053887.4F2, THBD, SERPINE1, PROC, PLG, FGG
6MP:00053877.0F2, THBD, SERPINE1, PROC, PLG, HRG
7MP:00053786.8F2, THBD, SERPINE1, PROC, PLG, F5
8MP:00053976.7F2, THBD, SERPINE1, PROC, PROS1, PLG
9MP:00053856.6F2, THBD, SERPINE1, PROC, PROS1, PLG
10MP:00107686.5F2, THBD, SERPINE1, PROC, PROS1, PLG
11MP:00053766.3FGG, F2, THBD, SERPINE1, PROC, PROS1

Publications for Thrombophilia

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Articles related to Thrombophilia:

(show top 50)    (show all 902)
idTitleAuthorsYear
1
Inherited and secondary thrombophilia. (24421360)
2014
2
Association between prothrombin gene polymorphisms and hereditary thrombophilia in Xinjiang Kazakhs population. (24162564)
2013
3
Thrombophilia and vascular risk factors in retinal vein occlusion. (23566482)
2013
4
Pediatric thrombophilia. (24237981)
2013
5
Contribution of Recurrent Venous Thrombosis and Inherited Thrombophilia to the Pathogenesis of Postthrombotic Syndrome. (23892685)
2013
6
Association between pre-eclampsia and inherited thrombophilias. (23002795)
2013
7
C6 knock-out mice are protected from thrombophilia mediated by antiphospholipid antibodies. (22933620)
2012
8
Ante- and postpartum redox status of blood in women with inherited thrombophilia treated with heparin. (22981678)
2012
9
Chronic venous insufficiency stage v ceap secondary to hereditary thrombophilia at a young man. (23700886)
2012
10
Inherited thrombophilia and IVF failure: the impact of coagulation disorders on implantation process. (22620672)
2012
11
Unmasking Asian thrombophilia: is APC dysfunction the real culprit? (22905992)
2012
12
Thrombophilia and early pregnancy loss. (22079389)
2012
13
Atherothrombosis in 2 vascular territories in a young woman: importance of thrombophilia testing. (20460352)
2011
14
Perioperative bridging therapy with low molecular weight heparin for patients with inherited thrombophilia and antiphospholipid syndrome on long-term acenokumarol therapy. (21076281)
2011
15
Thrombophilia screening or screaming. (20345713)
2010
16
Rapid multiplexed genotyping for hereditary thrombophilia by SELDI-TOF mass spectrometry. (20186013)
2010
17
Consequences of thrombophilia screening for life quality in women before prescription of oral contraceptives and family members of VTE patients. (19151859)
2009
18
Clinical management of Rendu-Osler-Weber syndrome and genetic thrombophilia. (20519971)
2009
19
Association of inherited thrombophilia with embryonic and postembryonic recurrent pregnancy loss. (19786941)
2009
20
Inherited thrombophilia as the reason of recurrent miscarriges in the first trimester of pregnancy]. (19886238)
2009
21
Dual genetic abnormality in the coagulation pathway as a cause of familial thrombophilia. (20329415)
2009
22
Assessment and management of high-risk pregnancies in women with thrombophilia. (19135285)
2009
23
Thrombophilia and pulmonary endarterectomy. (19591378)
2009
24
Should patients with venous thromboembolism be screened for thrombophilia? (18501222)
2008
25
Thrombophilia-associated gene mutations in women with pregnancies complicated by fetal neural tube defects. (18068170)
2008
26
Inheritance and perinatal consequences of inherited thrombophilia in Greece. (17963764)
2008
27
Thrombophilia and adverse pregnancy outcome. (18063103)
2007
28
Mechanisms of thrombophilia. (17849035)
2007
29
Primary thrombophilia in MAcxico. VI: lack of statistical association among the inherited thrombophilic conditions]. (17969840)
2007
30
Screening for inherited thrombophilia might be warranted among Eastern Mediterranean sickle-beta-0 thalassemia patients. (17008978)
2006
31
Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population. (16917913)
2006
32
No increase in rejection or graft loss in kidney transplant recipients with thrombophilia treated with anticoagulation and triple immunosuppression. (15919499)
2005
33
Thrombophilia in children with cystic fibrosis. (15678507)
2005
34
External quality assessment and the laboratory diagnosis of thrombophilia. (15706476)
2005
35
Frequency of hereditary thrombophilia: an AKUH experience. (15461212)
2004
36
The PAI-1 gene 4G/5G polymorphism and deep vein thrombosis in patients with inherited thrombophilia. (14653439)
2003
37
Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia. (12139752)
2002
38
Prevalence of inherited thrombophilia in young thrombosis patients from the East Bohemian region. (12192310)
2002
39
The C677T mutation in the methylenetetrahydrofolate reductase gene and its association with deep vein thrombophilia in Shandong Hans]. (12170465)
2002
40
Congenital thrombophilia associated to obstetric complications. (12714837)
2002
41
Portal vein thrombosis after variceal endoscopic sclerotherapy in cirrhotic patients: role of genetic thrombophilia. (12170404)
2002
42
Olav Egeberg--hereditary antithrombin deficiency and thrombophilia]. (11301618)
2001
43
Laboratory findings associated with thrombophilia are not more common in inflammatory bowel disease. (11012640)
2000
44
Constitutional thrombophilias: indications of the biological profile and therapeutic consequences]. (10667107)
1999
45
Familial thrombophilia: clinical and molecular analysis of Swedish families with inherited resistance to activated protein C or protein S deficiency. (8981666)
1996
46
Molecular biological analysis of hereditary thrombophilia--genetic characterization of protein S deficiency]. (7783333)
1995
47
Acquired protein C dysfunction but not decreased activity of thrombomodulin is a possible marker of thrombophilia in patients with lupus anticoagulant. (7822946)
1995
48
Protein C and S deficiency, thrombophilia, and hypofibrinolysis: pathophysiologic causes of Legg-Perthes disease. (8047373)
1994
49
Thrombophilia: the new factor is old factor V. (7911865)
1994
50
Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene. (2437584)
1987

Variations for Thrombophilia

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Clinvar genetic disease variations for Thrombophilia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1F2NM_000506.3(F2): c.1787G> T (p.Arg596Leu)single nucleotide variantPathogenicrs387907201GRCh37Chr 11, 46760876: 46760876

Expression for genes affiliated with Thrombophilia

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Search GEO for disease gene expression data for Thrombophilia.

Pathways for genes affiliated with Thrombophilia

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Pathways related to Thrombophilia according to GeneCards Suite gene sharing:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5PLG, F2
29.5PLG, F2
3
Show member pathways
9.3FGG, F2
49.3FGG, F2
5
Show member pathways
9.3F2, PROC, PROS1
69.0FGG, PLG
79.0FGG, PLG
8
Show member pathways
thioredoxin pathway36
9.0PLG, SERPINE1, F2
99.0SERPINE1, PLG, HRG
10
Show member pathways
8.8PROS1, PROC, THBD, F2
11
Show member pathways
8.7F2, PROC, PROS1, PLG
12
Show member pathways
8.5SERPINE1, PLG, FGG
13
Show member pathways
Metalloproteases in connective tissue degradation
8.5FGG, PLG, SERPINE1
14
Show member pathways
7.6F2, THBD, PROC, PROS1, F5, FGG
15
Show member pathways
7.3SERPINE1, PROS1, PLG, F5, HRG, FGG
16
Show member pathways
6.4SERPINE1, THBD, F2, PROC, PROS1, FGG
17
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
6.4FGG, F5, PLG, PROS1, PROC, SERPINE1
18
Show member pathways
6.1FGG, HRG, F5, PLG, PROS1, PROC

Compounds for genes affiliated with Thrombophilia

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Compounds related to Thrombophilia according to GeneCards Suite gene sharing:

(show top 50)    (show all 92)
idCompoundScoreTop Affiliating Genes
1inogatran4310.0F5, F2
2ecarin4310.0F2, F5
3spectrozyme4310.0F2, F5
4heparin sodium439.9F2, THBD
5monoethylglycinexylidide439.8F5, F2
6fibrinopeptide a439.7THBD, F2
7hirugen439.7F5, THBD, F2
8danaparoid439.7F2, F5
9batroxobin439.7F5, F2, SERPINE1
10ximelagatran43 1210.7THBD, F2, F5
11heparinoids439.7F2, THBD, F5
12fondaparinux439.7F2, THBD, F5
13bivalirudin43 1210.7THBD, F2, F5
14argatroban43 1210.6F2, F5, THBD
15cyproteroneacetate439.6F2, SERPINE1, F5
16cardiolipin43 1210.6F5, THBD, F2
17protamine439.6SERPINE1, F2, F5
18menadione43 24 1211.5PROC, PROS1, F2
1911-dehydrothromboxane b2439.5F2, THBD, SERPINE1
20kaolin439.5F5, F2
21paricalcitol43 1210.4SERPINE1, THBD
22polyethylene glycol439.4THBD, F5, F2
23tranexamic acid43 1210.4F2, PLG, SERPINE1
24mycophenolate mofetil43 49 1211.4THBD, SERPINE1, F5
25raloxifene43 49 28 1212.3THBD, SERPINE1, F5
26dermatan sulfate439.3THBD, HRG, F2, F5
27benzamidine43 1210.3F5, PLG, THBD
28warfarin43 49 24 1212.3F2, PROC, F5, THBD
29vitamin-e439.2PROS1, F5, THBD
30ancrod439.2THBD, F5, SERPINE1, F2
31desmopressin43 59 28 1212.2F2, THBD, SERPINE1, F5
32hirudin439.2SERPINE1, THBD, F2, F5
33pge1439.1SERPINE1, F2, F5, THBD
34homocysteine43 2410.1F5, SERPINE1, THBD, F2
35simvastatin43 49 59 28 24 1214.1F2, F5, SERPINE1, THBD
36epsilon aminocaproic acid439.1HRG, SERPINE1, F2, PLG
37aspirin43 49 28 2412.1F5, SERPINE1, THBD, F2
38nacl439.0F5, HRG, THBD, PLG
39prostacyclin439.0F5, THBD, PROS1, SERPINE1
40gamma-carboxyglutamic acid438.8F2, F5, PROS1, THBD, PROC
41phospholipid438.8F5, F2, THBD, PROC, PROS1
42matrigel438.8HRG, THBD, PLG, SERPINE1
43creatinine438.6PROS1, SERPINE1, F5, F2, THBD
44aprotinin43 129.6F5, PLG, SERPINE1, THBD, F2
45steroid438.5HRG, F5, PLG, PROS1, THBD
46vegf438.2SERPINE1, THBD, PROS1, F5, PLG
47kininogen438.2THBD, SERPINE1, F2, PLG, F5, HRG
48heparin43 28 24 1210.4PROC, HRG, F5, PLG, PROS1, THBD
49serine437.3F5, F2, THBD, SERPINE1, PROC, PROS1
50fibrinogen437.0THBD, SERPINE1, F5, HRG, FGG, F2

GO Terms for genes affiliated with Thrombophilia

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

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:00057969.0F2, PROC, PROS1
2cell surfaceGO:00099868.5FGG, PLG, THBD
3blood microparticleGO:00725628.0F2, PROS1, PLG, HRG, FGG
4platelet alpha granule lumenGO:00310937.5FGG, SERPINE1, PROS1, PLG, F5, HRG
5extracellular spaceGO:00056157.3F2, THBD, SERPINE1, PLG, F5, FGG
6extracellular regionGO:00055766.7F2, SERPINE1, PROC, PROS1, PLG, F5
7plasma membraneGO:00058866.4F2, THBD, SERPINE1, PROC, PLG, F5

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1regulation of blood coagulationGO:003019310.0HRG, F2
2negative regulation of cell adhesion mediated by integrinGO:00336299.8HRG, SERPINE1
3negative regulation of platelet activationGO:00105449.7F2, THBD
4positive regulation of blood coagulationGO:00301949.6SERPINE1, F2
5peptidyl-glutamic acid carboxylationGO:00171879.5F2, PROC, PROS1
6negative regulation of blood coagulationGO:00301959.2PROC, SERPINE1, THBD
7proteolysisGO:00065089.2F2, PROC, PROS1
8post-translational protein modificationGO:00436879.0PROS1, PROC, F2
9leukocyte migrationGO:00509009.0F2, THBD, PROC, PROS1
10cellular protein metabolic processGO:00442678.7PLG, PROS1, PROC, F2
11extracellular matrix organizationGO:00301988.5FGG, PLG, SERPINE1
12fibrinolysisGO:00427308.5F2, SERPINE1, PROS1, PLG, HRG
13negative regulation of fibrinolysisGO:00519188.4F2, THBD, SERPINE1, PLG, HRG
14platelet degranulationGO:00025767.6SERPINE1, PROS1, PLG, F5, HRG, FGG
15platelet activationGO:00301687.3F2, SERPINE1, PROS1, PLG, F5, HRG
16blood coagulationGO:00075966.4FGG, F2, THBD, SERPINE1, PROC, PROS1

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042528.8F5, PLG, PROC, F2
2calcium ion bindingGO:00055098.5F2, THBD, PROC, PROS1
3receptor bindingGO:00051028.4F2, SERPINE1, HRG, FGG
4protein bindingGO:00055157.4HRG, F5, PLG, PROC, SERPINE1, THBD

Products for genes affiliated with Thrombophilia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Thrombophilia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet