MCID: PRT045
MIFTS: 28

Prothrombin-Related Thrombophilia malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Prothrombin-Related Thrombophilia

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Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 occur in the deep veins of the legs. affected people also have an increased risk of developing a pulmonary embolism. however, most people with prothrombin thrombophilia never develop abnormal blood clots.Ā prothrombin thrombophilia is the second most common inherited form of thrombophilia after factor v leiden thrombophilia. it is more common in caucasian populations.Ā this condition is caused by a particular mutation (written g20210a or 20210g>a) in the f2 gene. people can inherit one or two copies of the gene mutation from their parents. last updated: 12/5/2011

MalaCards: Prothrombin-Related Thrombophilia, also known as prothrombin g20210a thrombophilia, is related to thrombophilia and homocysteinemia. An important gene associated with Prothrombin-Related Thrombophilia is F2 (coagulation factor II (thrombin)), and among its related pathways are Selenium Pathway and Collagen biosynthesis and modifying enzymes. The compounds warfarin and menadione have been mentioned in the context of this disorder. Related mouse phenotype reproductive system.

Genetics Home Reference:22 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.

GeneReviews summary for ptt

Aliases & Classifications for Prothrombin-Related Thrombophilia

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Sources:
20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference
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Classifications:

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


Aliases & Descriptions:

prothrombin-related thrombophilia 20 44 21
prothrombin g20210a thrombophilia 20 44 22
prothrombin thrombophilia 20 44 22
factor ii-related thrombophilia 20 44
hyperprothrombinemia 44 22
prothrombin 20210g>a thrombophilia 20
prothrombin 20210g>a thrombophilia 44
f2-related thrombophilia 20


Related Diseases for Prothrombin-Related Thrombophilia

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Prothrombin-Related Thrombophilia:



Diseases related to prothrombin-related thrombophilia

Symptoms for Prothrombin-Related Thrombophilia

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Drugs & Therapeutics for Prothrombin-Related Thrombophilia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Prothrombin-Related Thrombophilia

Genetic Tests for Prothrombin-Related Thrombophilia

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21GeneTests
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Genetic tests related to Prothrombin-Related Thrombophilia:

id Genetic test Affiliating Genes
1 Prothrombin-Related Thrombophilia21 F2

Anatomical Context for Prothrombin-Related Thrombophilia

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Animal Models for Prothrombin-Related Thrombophilia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Prothrombin-Related Thrombophilia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.6MTHFR, F13A1, F2

Publications for Prothrombin-Related Thrombophilia

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53PubMed
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Articles related to Prothrombin-Related Thrombophilia:

idTitleAuthorsYear
1
Prothrombin-Related Thrombophilia (20301327)
1993

Variations for Prothrombin-Related Thrombophilia

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Expression for genes affiliated with Prothrombin-Related Thrombophilia

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Prothrombin-Related Thrombophilia

Search GEO for disease gene expression data for Prothrombin-Related Thrombophilia.

Pathways for genes affiliated with Prothrombin-Related Thrombophilia

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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 31KEGG, 55R&D Systems
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Pathways related to Prothrombin-Related Thrombophilia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway39
9.4MTHFR, F2
2
Show member pathways
9.1F13A1, F2
3
Show member pathways
Complement Activation, Classical Pathway39
Complement and Coagulation Cascades39
9.1F13A1, F2
4
Show member pathways
9.1F13A1, F2

Compounds for genes affiliated with Prothrombin-Related Thrombophilia

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Sources:
46Novoseek, 52PharmGKB, 25HMDB, 12DrugBank, 30IUPHAR
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Compounds related to Prothrombin-Related Thrombophilia according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1warfarin46 52 25 1212.6MTHFR, F2
2menadione46 25 1211.5MTHFR, F2
3phosphatidylethanolamine46 1210.5F2, HABP2
4homocysteine46 2510.4F2, MTHFR
5heparinoids469.4F13A1, F2
6hyaluronic acid46 2510.2HABP2, F2
7methotrexate52 46 1211.1MTHFR, F2
8aspirin46 52 30 2511.8MTHFR, F13A1, F2
9serine468.8MTHFR, HABP2, F2
10kininogen468.8F13A1, HABP2, F2
11estrogen468.7MTHFR, F13A1, F2
12fibrinogen468.3MTHFR, F13A1, HABP2, F2
13heparin46 30 25 1211.2F2, HABP2, F13A1, MTHFR

GO Terms for genes affiliated with Prothrombin-Related Thrombophilia

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Sources:
17Gene Ontology
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Cellular components related to Prothrombin-Related Thrombophilia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725628.8F13A1, F2
2extracellular regionGO:0055768.5F13A1, HABP2, F2

Biological processes related to Prothrombin-Related Thrombophilia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet activationGO:0301689.1F13A1, F2

Molecular functions related to Prothrombin-Related Thrombophilia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042529.3HABP2, F2

Products for genes affiliated with Prothrombin-Related Thrombophilia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Prothrombin-Related Thrombophilia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet