MCID: THR015
MIFTS: 66

Thrombophilia malady

Genetic diseases (common), Blood diseases categories
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Summaries for Thrombophilia

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Thrombophilia (sometimes hypercoagulability or a prothrombotic state) is an abnormality of blood... more...

MalaCards: Thrombophilia, also known as hypercoagulability state, is related to thromboembolism and venous thrombosis. An important gene associated with Thrombophilia is HRG (histidine-rich glycoprotein), and among its related pathways are PTM- gamma carboxylation, hypusine formation and arylsulfatase activation and Staphylococcus aureus infection. The compounds hirugen and ximelagatran have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and placenta, and related mouse phenotypes are renal/urinary system and integument.

Description from OMIM:47 188050

Aliases & Classifications for Thrombophilia

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8Disease Ontology, 20GeneTests, 22GTR, 10DISEASES, 45Novoseek, 62UMLS, 58SNOMED-CT, 47OMIM, 35MeSH
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Classifications:

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


Aliases & Descriptions:

thrombophilia 8 20 22 10 45 62
hypercoagulability state 8


External Ids:

Disease Ontology8 DOID:2452
OMIM47 188050
MeSH35 D019851

Related Diseases for Thrombophilia

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Thrombophilia family:

Thrombophilia Due to Factor V Leiden Thrombophilia Due to Activated Protein C Resistance
Thrombophilia Due to Elevated Hrg Thrombophilia, Familial, Due to Decreased Release of Plat
Thrombophilia Due to Decreased Release of Tissue Plasminogen Thrombophilia Due to Thrombin Defect
Thrombophilia Due to Thrombomodulin Defect

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

(show top 50)    (show all 185)
idRelated DiseaseScoreTop Affiliating Genes
1thromboembolism30.9F5, THBD, SERPINE1, SERPIND1, PROC, PLG
2venous thrombosis30.9THBD, HRG, PROS1, PROC, SERPINE1, F5
3factor v leiden thrombophilia30.6THBD, SERPINE1, F5, PLG, SERPIND1
4pulmonary embolism30.6F5, PLG, PROS1
5eclampsia30.5THBD
6antiphospholipid syndrome30.4F5, PROS1, THBD
7protein s deficiency30.4SERPINE1, F5, PROS1
8central retinal vein occlusion30.4F5
9placental abruption30.3PROS1, F5
10portal vein thrombosis30.3F5, PROS1
11myocardial infarction30.3SERPINE1, F5, PLG, HRG
12pre-eclampsia30.3F5, SERPINE1, THBD
13hypertension30.2F5, PROS1, SERPINE1, PLG
14protein c deficiency30.2F5, PLG, PROS1, PROC, SERPIND1, THBD
15hellp syndrome30.2SERPINE1, F5
16acute myocardial infarction30.1PLG, HRG, THBD, SERPINE1
17hyperhomocysteinemia30.1HRG, F5, PROS1, THBD, SERPINE1
18vascular disease30.1THBD, SERPINE1, F5
19coronary artery disease30.0SERPINE1, THBD, PLG
20diabetes mellitus30.0PROS1, SERPINE1, THBD, PLG
21factor xi deficiency29.9F5
22coronary thrombosis29.9SERPINE1
23antithrombin iii deficiency29.8SERPIND1, F5, PROS1
24dysfibrinogenemia29.8F5, THBD, SERPIND1
25vasculitis29.8THBD, PROS1
26primary hyperoxaluria29.7SERPINE1, PROS1, THBD
27atherosclerosis29.7SERPINE1, THBD, PLG
28sepsis29.6PLG, SERPINE1, THBD, F5, PROC
29cerebrovascular disease29.6F5, SERPINE1, SERPIND1, PLG, THBD
30venous thromboembolism10.8
31prothrombin-related thrombophilia10.6
32pregnancy loss10.6
33retinitis10.5
34cerebritis10.4
35osteonecrosis10.4
36retinal vein occlusion10.3
37beta thalassemia10.2
38cushing's syndrome10.2
39ovarian hyperstimulation syndrome10.2
40infertility10.2
41inflammatory bowel disease10.2
42neuropathy10.2
43congenital antithrombin deficiency type 310.2
44thrombophilia due to protein s deficiency, autosomal dominant10.2
45thrombophilia due to hrg deficiency10.2
46endotheliitis10.2
47post-thrombotic syndrome10.2
48liver disease10.2
49thrombophilia due to factor v leiden10.2
50thrombophilia due to protein c deficiency, autosomal dominant10.2

Graphical network of the top 20 diseases related to Thrombophilia:



Diseases related to thrombophilia

Symptoms for Thrombophilia

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Sources:
47OMIM
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Clinical features from OMIM:

188050

Drugs & Therapeutics for Thrombophilia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Thrombophilia

Search NIH Clinical Center for Thrombophilia

Genetic Tests for Thrombophilia

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Sources:
20GeneTests, 22GTR
See all sources

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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Sources:
33MalaCards
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MalaCards organs/tissues related to Thrombophilia:

33
Testes, Liver, Placenta, Endothelial, Kidney, Bone, Heart, Ovary, Breast, Thyroid, Lung, Colon, Eye

Animal Models for Thrombophilia or affiliated genes

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37MGI
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Publications for Thrombophilia

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Sources:
52PubMed
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Articles related to Thrombophilia:

(show top 50)    (show all 864)
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
Inherited thrombophilia and preeclampsia: is the evidence beginning to congeal? (19185098)
2009
25
Should patients with venous thromboembolism be screened for thrombophilia? (18501222)
2008
26
Thrombophilia-associated gene mutations in women with pregnancies complicated by fetal neural tube defects. (18068170)
2008
27
Inheritance and perinatal consequences of inherited thrombophilia in Greece. (17963764)
2008
28
Thrombophilia and adverse pregnancy outcome. (18063103)
2007
29
Mechanisms of thrombophilia. (17849035)
2007
30
Primary thrombophilia in MAcxico. VI: lack of statistical association among the inherited thrombophilic conditions]. (17969840)
2007
31
Screening for inherited thrombophilia might be warranted among Eastern Mediterranean sickle-beta-0 thalassemia patients. (17008978)
2006
32
Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population. (16917913)
2006
33
No increase in rejection or graft loss in kidney transplant recipients with thrombophilia treated with anticoagulation and triple immunosuppression. (15919499)
2005
34
Thrombophilia in children with cystic fibrosis. (15678507)
2005
35
External quality assessment and the laboratory diagnosis of thrombophilia. (15706476)
2005
36
Frequency of hereditary thrombophilia: an AKUH experience. (15461212)
2004
37
The PAI-1 gene 4G/5G polymorphism and deep vein thrombosis in patients with inherited thrombophilia. (14653439)
2003
38
Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia. (12139752)
2002
39
Prevalence of inherited thrombophilia in young thrombosis patients from the East Bohemian region. (12192310)
2002
40
The C677T mutation in the methylenetetrahydrofolate reductase gene and its association with deep vein thrombophilia in Shandong Hans]. (12170465)
2002
41
Congenital thrombophilia associated to obstetric complications. (12714837)
2002
42
Portal vein thrombosis after variceal endoscopic sclerotherapy in cirrhotic patients: role of genetic thrombophilia. (12170404)
2002
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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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Thrombophilia:

1
id Gene Name Type Significance SNP ID Assembly Location
1F2NM_000506.3(F2): c.*97G> Asingle nucleotide variantPathogenic, association, risk factorrs1799963GRCh37Chr 11, 46761055: 46761055

Expression for genes affiliated with Thrombophilia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thrombophilia

Search GEO for disease gene expression data for Thrombophilia.

Pathways for genes affiliated with Thrombophilia

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Sources:
50PathCards, 55Reactome, 51PharmGKB, 38NCBI BioSystems Database, 30KEGG, 60Thomson Reuters, 12EMD Millipore, 53QIAGEN, 54R&D Systems
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Pathways related to Thrombophilia according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7PROS1, PROC
29.3FGG, PLG
39.3PLG, FGG
4
Show member pathways
9.2PROC, THBD, PROS1
5
Show member pathways
thioredoxin pathway38
9.1PLG, SERPINE1
68.8SERPINE1, HRG, PLG
7
Show member pathways
8.5FGG, PLG, SERPINE1
8
Show member pathways
8.5PLG, FGG, SERPINE1
9
Show member pathways
8.3FGG, F5, PROS1, THBD, PROC
10
Show member pathways
7.4FGG, HRG, F5, PLG, PROS1, SERPINE1
11
Show member pathways
6.6FGG, HRG, F5, PLG, THBD, PROS1
12
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
6.4THBD, SERPIND1, PROC, PROS1, PLG, F5
13
Show member pathways
6.4FGG, F5, PROS1, PROC, SERPIND1, SERPINE1

Compounds for genes affiliated with Thrombophilia

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Sources:
45Novoseek, 11DrugBank, 51PharmGKB, 24HMDB, 61Tocris Bioscience, 29IUPHAR
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Compounds related to Thrombophilia according to GeneCards/GeneDecks:

(show top 50)    (show all 67)
idCompoundScoreTop Affiliating Genes
1hirugen4510.1THBD, F5
2ximelagatran45 1111.0THBD, F5
3heparinoids4510.0F5, THBD
4fondaparinux4510.0THBD, F5
5bivalirudin45 1111.0F5, THBD
6argatroban45 1111.0THBD, F5
7cacl2459.9F5, THBD
8warfarin45 51 24 1112.7F5, PROC, THBD
9batroxobin459.7F5, SERPINE1
10vitamin-e459.6THBD, PROS1, F5
11benzamidine45 1110.6F5, PLG, THBD
12paricalcitol45 1110.6SERPINE1, THBD
1311-dehydrothromboxane b2459.5THBD, SERPINE1
14tranexamic acid45 1110.4SERPINE1, PLG
15tibolone459.4F5, SERPINE1
16perindopril45 51 1111.3SERPINE1, THBD
17gamma-carboxyglutamic acid459.3THBD, PROC, PROS1, F5
18ancrod459.3F5, SERPINE1, THBD
19phospholipid459.3THBD, PROC, PROS1, F5
20desmopressin45 61 29 1112.3F5, SERPINE1, THBD
21dermatan sulfate459.3THBD, SERPIND1, F5, HRG
22hirudin459.3THBD, SERPINE1, F5
23mycophenolate mofetil45 51 1111.3F5, SERPINE1, THBD
24raloxifene45 51 29 1112.3THBD, SERPINE1, F5
25nacl459.3THBD, PLG, F5, HRG
26epsilon aminocaproic acid459.2SERPINE1, PLG, HRG
27pge1459.2F5, SERPINE1, THBD
28cyproteroneacetate459.2F5, SERPINE1
29homocysteine45 2410.2THBD, SERPINE1, F5
30atorvastatin45 51 29 24 1113.2F5, SERPINE1, THBD
31simvastatin45 51 61 29 24 1114.1F5, SERPINE1, THBD
32heparan sulfate45 2410.1THBD, SERPINE1, HRG
33cyclophosphamide45 51 1111.1THBD, SERPINE1, F5
34endotoxin459.1F5, SERPINE1, THBD
35arginine459.1THBD, PROS1, F5, HRG
36aspirin45 51 29 2412.0THBD, SERPINE1, F5
37polymyxin b458.9SERPINE1, THBD
38prostacyclin458.9THBD, SERPINE1, PROS1, F5
39steroid458.8HRG, F5, PLG, PROS1, THBD
40vitamin d458.8PROS1, SERPINE1, THBD
41creatinine458.8THBD, SERPINE1, PROS1, F5
42aprotinin45 119.8THBD, SERPINE1, PLG, F5
43matrigel458.8THBD, SERPINE1, PLG, HRG
44cholesterol45 29 24 1111.7THBD, SERPINE1, PROS1, F5
45kininogen458.5THBD, SERPINE1, PLG, F5, HRG
46nitric oxide45 24 1110.3THBD, SERPINE1, PLG, F5
47vegf458.3THBD, SERPINE1, PROS1, PLG, F5
48heparin45 29 24 1110.2THBD, SERPINE1, SERPIND1, PROC, PROS1, PLG
49serine457.1THBD, SERPINE1, SERPIND1, PROC, PROS1, PLG
50fibrinogen456.9FGG, THBD, SERPINE1, SERPIND1, PROC, PLG

GO Terms for genes affiliated with Thrombophilia

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16Gene Ontology
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Cellular components related to Thrombophilia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:0057969.7PROS1, PROC
2blood microparticleGO:0725628.7PROS1, PLG, HRG, FGG
3cell surfaceGO:0099868.6FGG, PLG, THBD
4platelet alpha granule lumenGO:0310937.6FGG, SERPINE1, PROS1, PLG, F5, HRG
5extracellular spaceGO:0056157.2THBD, SERPINE1, SERPIND1, PLG, F5, FGG
6plasma membraneGO:0058866.9THBD, SERPINE1, PROC, PLG, F5, HRG
7extracellular regionGO:0055766.7SERPINE1, SERPIND1, PROC, PROS1, PLG, F5

Biological processes related to Thrombophilia according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1peptidyl-glutamic acid carboxylationGO:0171879.6PROS1, PROC
2negative regulation of cell adhesion mediated by integrinGO:0336299.4HRG, SERPINE1
3leukocyte migrationGO:0509009.2PROS1, PROC, THBD
4cellular protein metabolic processGO:0442679.2PLG, PROS1, PROC
5negative regulation of blood coagulationGO:0301959.0PROC, SERPINE1, THBD
6negative regulation of endopeptidase activityGO:0109518.8SERPINE1, SERPIND1, PROS1
7fibrinolysisGO:0427308.6SERPINE1, PROS1, PLG, HRG
8negative regulation of fibrinolysisGO:0519188.6THBD, SERPINE1, PLG, HRG
9extracellular matrix organizationGO:0301988.2SERPINE1, PLG, FGG
10platelet degranulationGO:0025767.7SERPINE1, PROS1, PLG, F5, HRG, FGG
11platelet activationGO:0301687.6SERPINE1, PROS1, PLG, F5, HRG, FGG
12blood coagulationGO:0075966.3FGG, THBD, SERPINE1, SERPIND1, PROC, PROS1

Molecular functions related to Thrombophilia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endopeptidase inhibitor activityGO:0048669.2PROS1, SERPIND1
2serine-type endopeptidase activityGO:0042529.1PROC, PLG, F5
3serine-type endopeptidase inhibitor activityGO:0048678.8HRG, SERPIND1, SERPINE1
4receptor bindingGO:0051028.7FGG, HRG, SERPINE1

Products for genes affiliated with Thrombophilia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thrombophilia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet