MCID: PRT045
MIFTS: 23

Prothrombin-Related Thrombophilia malady

Genetic diseases, Rare diseases, Blood diseases categories

Aliases & Classifications for Prothrombin-Related Thrombophilia

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Aliases & Descriptions for Prothrombin-Related Thrombophilia:

Name: Prothrombin-Related Thrombophilia 21 45 22
Prothrombin G20210a Thrombophilia 21 45 22 23
Prothrombin Thrombophilia 21 45 22 23
Factor Ii-Related Thrombophilia 21 45 22
 
Hyperprothrombinemia 45 23 65
Prothrombin 20210g>a Thrombophilia 45 22
F2-Related Thrombophilia 21 22
Prothrombin 20210g a Thrombophilia 21


Classifications:



Summaries for Prothrombin-Related Thrombophilia

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NIH Rare Diseases:45 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 spinocerebellar atrophy. An important gene associated with Prothrombin-Related Thrombophilia is F2 (Coagulation Factor II (Thrombin)), and among its related pathways are Selenium Pathway and Formation of Fibrin Clot (Clotting Cascade). Affiliated tissues include lung.

Genetics Home Reference:23 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

Related Diseases for Prothrombin-Related Thrombophilia

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Diseases in the Thrombophilia family:

Thrombophilia Due to Activated Protein C Resistance Thrombophilia, Familial, Due to Decreased Release of Plat
Thrombophilia Due to Thrombin Defect Thrombophilia Due to Thrombomodulin Defect
prothrombin-related thrombophilia

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

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1thrombophilia10.3
2spinocerebellar atrophy10.1F2, MTHFR
3liver failure acute infantile10.1F2, MTHFR
4mitral valve insufficiency10.1F2, MTHFR
5testicular brenner tumor10.1F2, MTHFR
6sesame syndrome10.1F2, MTHFR
7retinal cancer10.1F2, MTHFR
8budd-chiari syndrome10.1F2, MTHFR
9cavernous sinus thrombosis10.1F2, MTHFR
10pyometritis10.1F2, MTHFR
11retinitis10.1F2, MTHFR
12neurofibroma of spinal cord10.1F2, MTHFR
13homocystinuria due to cbs deficiency10.1F2, MTHFR
14vertebral artery insufficiency10.1F2, MTHFR
15glioblastoma mesenchymal subtype10.1F2, MTHFR
16thymic carcinoma10.1F2, MTHFR
17protein c deficiency10.1F2, MTHFR
18appendicitis10.1F2, MTHFR
19disuse amblyopia10.1F2, MTHFR
20central retinal vein occlusion10.1F2, MTHFR
21islet cell tumor10.1F2, MTHFR
22venous insufficiency10.1F2, MTHFR
23thrombocytopenia cerebellar hypoplasia short stature10.1F2, MTHFR
24retinitis pigmentosa10.1F2, MTHFR
25bernard-soulier syndrome, type a210.1F2, MTHFR
26fungal esophagitis10.0F2, MTHFR
27thrombophilia due to activated protein c resistance10.0F2, MTHFR
28osteopetrosis10.0F2, MTHFR
29skin glomus tumor10.0F2, MTHFR
30dysgnathia complex10.0F13A1, F2
31intracranial sinus thrombosis10.0F2, MTHFR
32female breast axillary tail cancer10.0F2, MTHFR
33cervical squamous cell carcinoma10.0F2, MTHFR
34female infertility of uterine origin9.9F2, MTHFR
35stroke, ischemic9.9F2, MTHFR
36dyspepsia9.9HABP2, MTHFR
37pre-malignant neoplasm9.9F2, MTHFR
38biliary atresia9.9F13A1, F2, MTHFR
39pulmonary eosinophilia9.9F13A1, F2, MTHFR
40cerebrum cancer9.9F13A1, F2, MTHFR
41basal ganglia calcification, idiopathic, 59.8F13A1, HABP2
42thrombophlebitis9.8F2, MTHFR
43myocardial infarction9.8F13A1, F2, MTHFR
44hypertension, essential9.7F2, HABP2, MTHFR
45pulmonary fibrosis, familial9.5F13A1, F2, HABP2, MTHFR
46thrombophilia due to thrombin defect9.5F13A1, F2, HABP2, MTHFR

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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Interventional clinical trials:

Search ClinicalTrials, 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 Thrombophilia22 F2

Anatomical Context for Prothrombin-Related Thrombophilia

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MalaCards organs/tissues related to Prothrombin-Related Thrombophilia:

33
Lung

Animal Models for Prothrombin-Related Thrombophilia or affiliated genes

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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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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:00725629.3F13A1, F2

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

idNameGO IDScoreTop Affiliating Genes
1platelet activationGO:00301689.3F13A1, F2

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042529.1F2, HABP2

Sources for Prothrombin-Related Thrombophilia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet