MCID: PRT045
MIFTS: 26

Prothrombin-Related Thrombophilia malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Prothrombin-Related Thrombophilia

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NIH Rare Diseases:41 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. prothrombin thrombophilia is the second most common inherited form of thrombophilia after factor v leiden thrombophilia. it is more common in caucasian populations. 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 based summary: 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. Affiliated tissues include lung, and related mouse phenotype reproductive system.

Genetics Home Reference:21 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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Prothrombin-Related Thrombophilia, Aliases & Descriptions:

Name: Prothrombin-Related Thrombophilia 19 41 20
Prothrombin G20210a Thrombophilia 19 41 21
Prothrombin Thrombophilia 19 41 21
Hyperprothrombinemia 41 21 60
 
Factor Ii-Related Thrombophilia 19 41
Prothrombin 20210g a Thrombophilia 19
Prothrombin 20210g>a Thrombophilia 41
F2-Related Thrombophilia 19


Classifications:

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


Related Diseases for Prothrombin-Related Thrombophilia

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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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Drug clinical trials:

Search ClinicalTrials for Prothrombin-Related Thrombophilia

Search NIH Clinical Center for Prothrombin-Related Thrombophilia

Genetic Tests for Prothrombin-Related Thrombophilia

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Genetic tests related to Prothrombin-Related Thrombophilia:

id Genetic test Affiliating Genes
1 Prothrombin-Related Thrombophilia20 F2

Anatomical Context for Prothrombin-Related Thrombophilia

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MalaCards organs/tissues related to Prothrombin-Related Thrombophilia:

31
Lung

Animal Models for Prothrombin-Related Thrombophilia or affiliated genes

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MGI Mouse Phenotypes related to Prothrombin-Related Thrombophilia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.6MTHFR, F13A1, F2

Publications for Prothrombin-Related Thrombophilia

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

Pathways for genes affiliated with Prothrombin-Related Thrombophilia

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Pathways related to Prothrombin-Related Thrombophilia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway36
9.4MTHFR, 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 Prothrombin-Related Thrombophilia

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Sources:
43Novoseek, 49PharmGKB, 24HMDB, 12DrugBank, 28IUPHAR
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Compounds related to Prothrombin-Related Thrombophilia according to GeneCards Suite gene sharing:

(show all 13)
idCompoundScoreTop Affiliating Genes
1warfarin43 49 24 1212.6MTHFR, F2
2menadione43 24 1211.5MTHFR, F2
3phosphatidylethanolamine43 1210.5F2, HABP2
4homocysteine43 2410.4F2, MTHFR
5heparinoids439.4F13A1, F2
6hyaluronic acid43 2410.2HABP2, F2
7methotrexate49 43 1211.1MTHFR, F2
8aspirin43 49 28 2411.8MTHFR, F13A1, F2
9serine438.8MTHFR, HABP2, F2
10kininogen438.8F13A1, HABP2, F2
11estrogen438.7MTHFR, F13A1, F2
12fibrinogen438.3MTHFR, F13A1, HABP2, F2
13heparin43 28 24 1211.2F2, HABP2, F13A1, MTHFR

GO Terms for genes affiliated with Prothrombin-Related Thrombophilia

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

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725628.8F13A1, F2
2extracellular regionGO:00055768.5F13A1, HABP2, F2

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

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

Molecular functions related to Prothrombin-Related Thrombophilia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042529.3HABP2, F2

Products for genes affiliated with Prothrombin-Related Thrombophilia

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

Sources for Prothrombin-Related 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