MCID: THR092
MIFTS: 41

Thrombophilia Due to Thrombin Defect malady

Genetic diseases (common), Blood diseases categories

Aliases & Classifications for Thrombophilia Due to Thrombin Defect

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Sources:
46OMIM, 9diseasecard, 44Novoseek, 2CDC, 61UMLS
See all sources

Aliases & Descriptions for Thrombophilia Due to Thrombin Defect:

Name: Thrombophilia Due to Thrombin Defect 46 9
Venous Thromboembolism 46 2 61
Thromboembolism 46 44 61
 
Venous Thrombosis 44 61
Venous Thrombosis, Protection Against 46
Venous Thrombosis, Susceptibility to 9


Classifications:



External Ids:

OMIM46 188050

Summaries for Thrombophilia Due to Thrombin Defect

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OMIM:46 Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic,... (188050) more...

MalaCards based summary: Thrombophilia Due to Thrombin Defect, also known as venous thromboembolism, is related to protein c deficiency and thrombophilia, and has symptoms including autosomal dominant inheritance, pulmonary embolism and deep venous thrombosis. An important gene associated with Thrombophilia Due to Thrombin Defect is F2 (coagulation factor II (thrombin)), and among its related pathways are Selenium Pathway and Collagen biosynthesis and modifying enzymes. The drugs heparin and heparin sodium and the compounds phosphatidylethanolamine and warfarin have been mentioned in the context of this disorder. Affiliated tissues include lung, and related mouse phenotype reproductive system.

CDC:2 Learn how to prevent DVT, a serious blood clot that can cause illness, disability, and even, death.

Related Diseases for Thrombophilia Due to Thrombin Defect

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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 Due to Thrombin Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 469)
idRelated DiseaseScoreTop Affiliating Genes
1protein c deficiency30.8MTHFR, F2
2thrombophilia30.8F2, F13A1, MTHFR
3antiphospholipid syndrome30.7MTHFR, F2
4hyperhomocysteinemia30.7MTHFR, F2
5protein s deficiency30.6MTHFR, F2
6pulmonary embolism30.5MTHFR, F13A1, F2
7myocardial infarction30.3MTHFR, F13A1
8homocysteinemia30.2MTHFR
9dysfibrinogenemia30.2F13A1, F2
10thrombophilia due to activated protein c resistance30.2MTHFR, F2
11portal vein thrombosis30.1F2, MTHFR
12placental abruption30.1F2, MTHFR
13vascular disease30.0MTHFR, F13A1
14thrombophilia due to antithrombin iii deficiency29.9F2, MTHFR
15factor v leiden thrombophilia29.8F2, F13A1
16atherosclerosis29.8MTHFR, F13A1, HABP2
17stroke, ischemic29.8MTHFR, F2
18congenital heart disease29.8MTHFR, F2
19cerebrovascular disease29.6F13A1, MTHFR
20pulmonary hypertension11.1
21chronic thromboembolic pulmonary hypertension11.1
22atrial fibrillation10.6
23headache10.5
24aneurysm10.5
25intracranial hypotension10.5
26cerebritis10.5
27endotheliitis10.4
28intracranial hypertension10.4
29cerebral aneurysms10.4
30thrombocytopenia10.4
31nephrotic syndrome10.4
32inflammatory bowel disease10.4
33obesity10.3
34patent foramen ovale10.3
35central retinal vein occlusion10.3MTHFR
36budd-chiari syndrome10.3
37papilledema10.3
38thrombophilia, x-linked, due to factor ix defect10.3
39arthritis10.3
40thrombocytosis10.3
41heparin-induced thrombocytopenia10.3
42factor xiii deficiency10.3F13A1
43thrombophilia due to protein c deficiency, autosomal dominant10.3
44thrombophilia due to thrombomodulin defect10.3
45peripheral artery disease10.3
46sapho syndrome10.3
47von willebrand's disease10.3
48double inferior vena cava10.3
49colorectal cancer10.2
50systemic lupus erythematosus10.2

Graphical network of the top 20 diseases related to Thrombophilia Due to Thrombin Defect:



Diseases related to thrombophilia due to thrombin defect

Symptoms for Thrombophilia Due to Thrombin Defect

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Symptoms by clinical synopsis from OMIM:

188050

Clinical features from OMIM:

188050

HPO human phenotypes related to Thrombophilia Due to Thrombin Defect:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 pulmonary embolism HP:0002204
3 deep venous thrombosis HP:0002625
4 recurrent thrombophlebitis HP:0004419
5 cerebral venous thrombosis HP:0005305
6 childhood onset HP:0011463

Drugs & Therapeutics for Thrombophilia Due to Thrombin Defect

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Genetic Tests for Thrombophilia Due to Thrombin Defect

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Anatomical Context for Thrombophilia Due to Thrombin Defect

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MalaCards organs/tissues related to Thrombophilia Due to Thrombin Defect:

31
Lung

Animal Models for Thrombophilia Due to Thrombin Defect or affiliated genes

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MGI Mouse Phenotypes related to Thrombophilia Due to Thrombin Defect:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.5MTHFR, F13A1, F2

Publications for Thrombophilia Due to Thrombin Defect

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Variations for Thrombophilia Due to Thrombin Defect

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Clinvar genetic disease variations for Thrombophilia Due to Thrombin Defect:

5
id Gene Variation Type Significance SNP ID Assembly Location
1F2NM_000506.3(F2): c.*97G> Asingle nucleotide variantPathogenic, risk factorrs1799963GRCh37Chr 11, 46761055: 46761055
2F2NM_000506.3(F2): c.1787G> T (p.Arg596Leu)single nucleotide variantPathogenicrs387907201GRCh37Chr 11, 46760876: 46760876

Expression for genes affiliated with Thrombophilia Due to Thrombin Defect

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Search GEO for disease gene expression data for Thrombophilia Due to Thrombin Defect.

Pathways for genes affiliated with Thrombophilia Due to Thrombin Defect

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Pathways related to Thrombophilia Due to Thrombin Defect according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway36
9.3MTHFR, F2
2
Show member pathways
9.1F13A1, F2
3
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
9.1F13A1, F2
4
Show member pathways
9.1F13A1, F2

Compounds for genes affiliated with Thrombophilia Due to Thrombin Defect

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Sources:
44Novoseek, 11DrugBank, 50PharmGKB, 24HMDB, 28IUPHAR
See all sources

Compounds related to Thrombophilia Due to Thrombin Defect according to GeneCards Suite gene sharing:

(show all 13)
idCompoundScoreTop Affiliating Genes
1phosphatidylethanolamine44 1110.6F2, HABP2
2warfarin44 50 24 1112.5MTHFR, F2
3menadione44 24 1111.4MTHFR, F2
4heparinoids449.4F13A1, F2
5homocysteine44 2410.3F2, MTHFR
6hyaluronic acid44 2410.3HABP2, F2
7methotrexate50 44 1111.0MTHFR, F2
8kininogen448.9F13A1, HABP2, F2
9serine448.8MTHFR, HABP2, F2
10aspirin44 50 28 2411.7MTHFR, F13A1, F2
11estrogen448.6MTHFR, F13A1, F2
12fibrinogen448.3MTHFR, F13A1, HABP2, F2
13heparin44 28 24 1111.2F2, HABP2, F13A1, MTHFR

GO Terms for genes affiliated with Thrombophilia Due to Thrombin Defect

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Cellular components related to Thrombophilia Due to Thrombin Defect according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725628.8F13A1, F2
2extracellular regionGO:00055768.6F13A1, HABP2, F2

Biological processes related to Thrombophilia Due to Thrombin Defect according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet activationGO:00301689.1F13A1, F2

Molecular functions related to Thrombophilia Due to Thrombin Defect according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042529.4HABP2, F2

Sources for Thrombophilia Due to Thrombin Defect

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet