MCID: PRT045
MIFTS: 12

Prothrombin-Related Thrombophilia

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Prothrombin-Related Thrombophilia

MalaCards integrated aliases for Prothrombin-Related Thrombophilia:

Name: Prothrombin-Related Thrombophilia 23 49
Hyperprothrombinemia 49 24 69
Prothrombin G20210a Thrombophilia 49 24
Prothrombin Thrombophilia 49 24
F2-Related Thrombophilia, Factor Ii-Related Thrombophilia, Prothrombin G20210a Thrombophilia, Prothrombin 20210g a Thrombophilia, Prothrombin Thrombophilia 23
Thrombophilia Due to Factor 2 Defect 49
Prothrombin 20210g>a Thrombophilia 49
Factor Ii-Related Thrombophilia 49
F2-Related Thrombophilia 49

Classifications:



External Ids:

UMLS 69 C1867596

Summaries for Prothrombin-Related Thrombophilia

NIH Rare Diseases : 49 Prothrombin thrombophilia is a genetic disorder of blood clotting. Individuals who have a thrombophilia have an increased risk to form abnormal blood clots in blood vessels. Those with prothrombin thrombophilia are at somewhat higher than average risk for a type of clot that typically occurs in the deep veins of the legs (deep venous thrombosis). There is additionally an increased risk of developing a clot that  lodges in the lungs (pulmonary embolism); however, most people with prothrombin thrombophilia never develop abnormal blood clots. 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. The treatment for this condition is dependent on whether a blood clot has occurred and if there are additional risk factors. In individuals with a history of one or more blood clots, blood thinning medications may be used. Last updated: 5/22/2017

MalaCards based summary : Prothrombin-Related Thrombophilia, also known as hyperprothrombinemia, is related to thrombophilia due to thrombin defect and thrombophilia. Affiliated tissues include lung.

Genetics Home Reference : 24 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: NBK1148

Related Diseases for Prothrombin-Related Thrombophilia

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

# Related Disease Score Top Affiliating Genes
1 thrombophilia due to thrombin defect 11.4
2 thrombophilia 9.9

Symptoms & Phenotypes for Prothrombin-Related Thrombophilia

Drugs & Therapeutics for Prothrombin-Related Thrombophilia

Search Clinical Trials , NIH Clinical Center for Prothrombin-Related Thrombophilia

Genetic Tests for Prothrombin-Related Thrombophilia

Anatomical Context for Prothrombin-Related Thrombophilia

MalaCards organs/tissues related to Prothrombin-Related Thrombophilia:

38
Lung

Publications for Prothrombin-Related Thrombophilia

Articles related to Prothrombin-Related Thrombophilia:

# Title Authors Year
1
Prothrombin-Related Thrombophilia ( 20301327 )
1993

Variations for Prothrombin-Related Thrombophilia

Expression for Prothrombin-Related Thrombophilia

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

Pathways for Prothrombin-Related Thrombophilia

GO Terms for Prothrombin-Related Thrombophilia

Sources for Prothrombin-Related Thrombophilia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
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45 NCI
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50 NINDS
51 Novoseek
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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