| dbo:abstract |
Die Prothrombinmutation G20210A stellt einen erblichen Risikofaktor für die Entwicklung von Thrombosen dar. Sie wird in Deutschland bei 2–3 % der Bevölkerung gefunden und führt zu einem geringfügig erhöhten Risiko bei heterozygoten Trägern, in der homozygoten Form ist das Thromboserisiko stärker erhöht. Sie ist nach der APC-Resistenz die zweithäufigste bekannte vererbliche Thromboseneigung. (de) Prothrombin G20210A is a genetic condition that increases the risk of blood clots including from deep vein thrombosis, and of pulmonary embolism. One copy of the mutation increases the risk of a blood clot from 1 in 1,000 per year to 2.5 in 1,000. Two copies increases the risk to up to 20 in 1,000 per year. Most people never develop a blood clot in their lifetimes. It is due to a specific gene mutation in which a guanine (G) is changed to an adenine (A) at position 20210 of the DNA of the prothrombin gene. Other blood clotting pathway mutations that increase the risk of clots include factor V Leiden. Prothrombin G20210A was identified in the 1990s. About 2% of Caucasians carry the variant, while it is less common in other populations. It is estimated to have originated in Caucasians about 20,000 years ago. (en) La thrombophilie par mutation G20210A du gène de la prothrombine se manifeste le plus souvent chez l'adulte par des thromboses veineuses des membres inférieures ou des embolies pulmonaires. Cette maladie s'exprime de façon très variable ; beaucoup de personnes porteuses hétérozygotes ou homozygotes de cette mutation ne développeront jamais de thrombose tandis que la plupart des porteurs hétérozygotes qui auront des manifestations thrombo-emboliques resteront asymptomatiques jusque l'âge adulte et quelques-uns présenteront des thromboses récurrentes avant 30 ans. (fr) |
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32790 |
| dbo:omim |
176930 (xsd:integer) |
| dbo:symptom |
dbr:Blood_clots |
| dbo:thumbnail |
wiki-commons:Special:FilePath/Classical_blood_coagulation_pathway.png?width=300 |
| dbo:wikiPageExternalLink |
http://th.schattauer.de/en/contents/archive/issue/2275/manuscript/24423/download.html https://web.archive.org/web/20160610164443/https:/th.schattauer.de/en/contents/archive/issue/2275/manuscript/24423/download.html |
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dbr:F2_gene |
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Prothrombin G20210A (en) |
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176930 (xsd:integer) |
| dbp:rsid |
1799963 (xsd:integer) |
| dbp:symptoms |
dbr:Blood_clots |
| dbp:synonyms |
Prothrombin thrombophilia, factor II mutation, prothrombin mutation, rs1799963, factor II G20210A (en) |
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dbt:Infobox_single_nucleotide_polymorphism dbt:Better_source_needed dbt:Citation_needed dbt:Cite_journal dbt:Efn dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Notelist dbt:Reflist dbt:Medicine dbt:Genetics |
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dbc:Coagulopathies |
| rdf:type |
owl:Thing wikidata:Q12136 yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 dbo:Disease yago:State100024720 |
| rdfs:comment |
Die Prothrombinmutation G20210A stellt einen erblichen Risikofaktor für die Entwicklung von Thrombosen dar. Sie wird in Deutschland bei 2–3 % der Bevölkerung gefunden und führt zu einem geringfügig erhöhten Risiko bei heterozygoten Trägern, in der homozygoten Form ist das Thromboserisiko stärker erhöht. Sie ist nach der APC-Resistenz die zweithäufigste bekannte vererbliche Thromboseneigung. (de) La thrombophilie par mutation G20210A du gène de la prothrombine se manifeste le plus souvent chez l'adulte par des thromboses veineuses des membres inférieures ou des embolies pulmonaires. Cette maladie s'exprime de façon très variable ; beaucoup de personnes porteuses hétérozygotes ou homozygotes de cette mutation ne développeront jamais de thrombose tandis que la plupart des porteurs hétérozygotes qui auront des manifestations thrombo-emboliques resteront asymptomatiques jusque l'âge adulte et quelques-uns présenteront des thromboses récurrentes avant 30 ans. (fr) Prothrombin G20210A is a genetic condition that increases the risk of blood clots including from deep vein thrombosis, and of pulmonary embolism. One copy of the mutation increases the risk of a blood clot from 1 in 1,000 per year to 2.5 in 1,000. Two copies increases the risk to up to 20 in 1,000 per year. Most people never develop a blood clot in their lifetimes. Prothrombin G20210A was identified in the 1990s. About 2% of Caucasians carry the variant, while it is less common in other populations. It is estimated to have originated in Caucasians about 20,000 years ago. (en) |
| rdfs:label |
Prothrombinmutation G20210A (de) Thrombophilie par mutation G20210A du gène de la prothrombine (fr) Prothrombin G20210A (en) |
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freebase:Prothrombin G20210A wikidata:Prothrombin G20210A dbpedia-de:Prothrombin G20210A dbpedia-fr:Prothrombin G20210A https://global.dbpedia.org/id/21kCN |
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wikipedia-en:Prothrombin_G20210A |
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Prothrombin G20210A (en) |
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