MCID: PRT045
MIFTS: 25

Prothrombin-Related Thrombophilia malady

Categories: Genetic diseases, Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for Prothrombin-Related Thrombophilia

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Aliases & Descriptions for Prothrombin-Related Thrombophilia:

Name: Prothrombin-Related Thrombophilia 22 46 23
Prothrombin G20210a Thrombophilia 22 46 23 24
Prothrombin Thrombophilia 22 46 23 24
Factor Ii-Related Thrombophilia 22 46 23
Hyperprothrombinemia 46 24 66
 
F2-Related Thrombophilia 22 23
Prothrombin 20210g a Thrombophilia 22
Prothrombin 20210g>a Thrombophilia 23
Prothrombin 20210g> 46
a Thrombophilia 46

Classifications:



Summaries for Prothrombin-Related Thrombophilia

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NIH Rare Diseases:46 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 subcortical arteriosclerotic encephalopathy. 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: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 summary for NBK1148

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 top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1thrombophilia30.3F2, MTHFR
2subcortical arteriosclerotic encephalopathy10.3F2, MTHFR
3typhoid fever10.3F2, MTHFR
4acute zonal occult outer retinopathy10.2F2, MTHFR
5unicentric castleman disease10.2F2, MTHFR
6thyroid hyalinizing trabecular adenoma10.2F2, MTHFR
7hypertensive heart disease10.2F2, MTHFR
8homocystinuria due to defect in methylation cbl g10.2F2, MTHFR
9left-right axis malformations10.2F2, MTHFR
10primary pigmented nodular adrenocortical disease10.2F2, MTHFR
11lymphatic system cancer10.2F2, MTHFR
12polyhydramnios10.2F2, MTHFR
13histoplasmosis10.2F2, MTHFR
14budd-chiari syndrome10.2F2, MTHFR
15functional colonic disease10.2F2, MTHFR
16elejalde disease10.2F2, MTHFR
17hepatocellular adenoma10.2F2, MTHFR
18selective iga deficiency disease10.2F2, MTHFR
19angular blepharoconjunctivitis10.2F2, MTHFR
20intracranial arteriosclerosis10.2F2, MTHFR
21pseudohermaphroditism10.2F2, MTHFR
22noma10.2F2, MTHFR
23dermatitis10.2F2, MTHFR
24joint disorders10.2F2, MTHFR
25sacrococcygeal teratoma10.2F2, MTHFR
26psychosexual disorder10.2F2, MTHFR
27lip carcinoma in situ10.2F2, MTHFR
28spastic paraplegia 3a10.2F2, MTHFR
29thrombocytopenia with elevated serum iga and renal disease10.2F2, MTHFR
30exophthalmic ophthalmoplegia10.1F2, MTHFR
31alpha-2-plasmin inhibitor deficiency10.1F2, MTHFR
32cervical mullerian papilloma10.1F2, MTHFR
33inherited blood coagulation disease10.1F13A1, F2
34thrombophilia due to activated protein c resistance10.1F2, MTHFR
35pes anserinus tendinitis or bursitis10.1F2, MTHFR
36prostate neuroendocrine neoplasm10.1F2, MTHFR
37ovarian insufficiency, familial10.1F2, MTHFR
38ulcerative blepharitis10.1F2, MTHFR
39borderline glaucoma10.1F2, MTHFR
40thalassemia-beta, dominant inclusion-body10.0F2, MTHFR
41frontal sinus cancer10.0F2, MTHFR
42charcot-marie-tooth disease10.0F2, MTHFR
43blepharoconjunctivitis9.9F2, MTHFR
44pleural tuberculosis9.9F2, MTHFR
45littre gland carcinoma9.8F2, MTHFR
46peripheral artery disease9.8F2, MTHFR
47vertebrobasilar insufficiency9.8HABP2, MTHFR
48adrenal rest tumor9.7F2, MTHFR
49photokeratitis9.7F13A1, F2, MTHFR
50neutrophil immunodeficiency syndrome9.6F13A1, HABP2

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 Thrombophilia23 F2

Anatomical Context for Prothrombin-Related Thrombophilia

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MalaCards organs/tissues related to Prothrombin-Related Thrombophilia:

34
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
1blood coagulationGO:00075969.3F13A1, 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet