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Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first described in 1981. The disease belongs to a group of genetic disorders known as thrombophilias. Protein C deficiency is associated with an increased incidence of venous thromboembolism (relative risk 8–10), whereas no association with arterial thrombotic disease has been found.

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dbo:abstract
  • Bei Protein-C-Mangel führt eine aufgrund angeborener (kongenitaler) oder erworbener Erkrankungen erniedrigte Aktivität oder Konzentration von Protein C im Plasma zu einer erhöhten Gerinnbarkeit des Blutes und damit vermehrt zur Entstehung von Blutgerinnseln. (de)
  • Le déficit en protéine C est une maladie génétique rare source de thrombophilie (risque de thromboses). Le risque thrombotique est surtout veineux (maladie thromboembolique). Deux types de déficit existent : déficit quantitatif (Type I) et qualitatif (Type II). La forme homozygote est rapidement létale. Le facteur V Leiden qui consiste en une résistance du facteur V à la protéine C donne des symptômes similaires mais moins prononcés. La protéine C étant vitamine K dépendant, les anticoagulants oraux diminuent son taux ; c'est ce qui explique l'effet procoagulant initial de ces médicaments. (fr)
  • Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first described in 1981. The disease belongs to a group of genetic disorders known as thrombophilias. Protein C deficiency is associated with an increased incidence of venous thromboembolism (relative risk 8–10), whereas no association with arterial thrombotic disease has been found. (en)
  • Il deficit di proteina C è una malattia genetica rara che predispone a eventi trombotici. È stata descritta per la prima volta nel 1981. Questa patologia appartiene ad un gruppo di malattie genetiche note come trombofilie. La prevalenza del deficit di proteina C è stata stimata tra lo 0,2 e lo 0,5% della popolazione generale. Il deficit di proteina C è associato a un'accresciuta incidenza di tromboembolismi venosi (rischio relativo 8-10), mentre non è stata trovata alcuna associazione con eventi trombotici arteriosi. (it)
  • Wrodzony niedobór białka C (ang. protein C deficiency) – rzadka uwarunkowana genetycznie trombofilia. Pacjenci z wrodzonym niedoborem białka C mają podwyższone ryzyko rozwoju zakrzepicy naczyń żylnych, nie stwierdzono u nich zwiększonej predyspozycji do zakrzepicy naczyń tętniczych. Ta jednostka chorobowa została opisana w 1981 roku przez Griffina i wsp.. Wrodzony niedobór białka C wymaga różnicowania ze stanami nabytymi, spowodowanymi m.in. niedoborem witaminy K, leczeniem doustnymi antykoagulantami, chorobami wątroby, zespołem DIC, antykoncepcją hormonalną. (pl)
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  • 1923 (en)
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dbp:caption
  • This condition is inherited in an autosomal dominant manner. (en)
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rdfs:comment
  • Bei Protein-C-Mangel führt eine aufgrund angeborener (kongenitaler) oder erworbener Erkrankungen erniedrigte Aktivität oder Konzentration von Protein C im Plasma zu einer erhöhten Gerinnbarkeit des Blutes und damit vermehrt zur Entstehung von Blutgerinnseln. (de)
  • Le déficit en protéine C est une maladie génétique rare source de thrombophilie (risque de thromboses). Le risque thrombotique est surtout veineux (maladie thromboembolique). Deux types de déficit existent : déficit quantitatif (Type I) et qualitatif (Type II). La forme homozygote est rapidement létale. Le facteur V Leiden qui consiste en une résistance du facteur V à la protéine C donne des symptômes similaires mais moins prononcés. La protéine C étant vitamine K dépendant, les anticoagulants oraux diminuent son taux ; c'est ce qui explique l'effet procoagulant initial de ces médicaments. (fr)
  • Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first described in 1981. The disease belongs to a group of genetic disorders known as thrombophilias. Protein C deficiency is associated with an increased incidence of venous thromboembolism (relative risk 8–10), whereas no association with arterial thrombotic disease has been found. (en)
  • Il deficit di proteina C è una malattia genetica rara che predispone a eventi trombotici. È stata descritta per la prima volta nel 1981. Questa patologia appartiene ad un gruppo di malattie genetiche note come trombofilie. La prevalenza del deficit di proteina C è stata stimata tra lo 0,2 e lo 0,5% della popolazione generale. Il deficit di proteina C è associato a un'accresciuta incidenza di tromboembolismi venosi (rischio relativo 8-10), mentre non è stata trovata alcuna associazione con eventi trombotici arteriosi. (it)
  • Wrodzony niedobór białka C (ang. protein C deficiency) – rzadka uwarunkowana genetycznie trombofilia. Pacjenci z wrodzonym niedoborem białka C mają podwyższone ryzyko rozwoju zakrzepicy naczyń żylnych, nie stwierdzono u nich zwiększonej predyspozycji do zakrzepicy naczyń tętniczych. Ta jednostka chorobowa została opisana w 1981 roku przez Griffina i wsp.. Wrodzony niedobór białka C wymaga różnicowania ze stanami nabytymi, spowodowanymi m.in. niedoborem witaminy K, leczeniem doustnymi antykoagulantami, chorobami wątroby, zespołem DIC, antykoncepcją hormonalną. (pl)
rdfs:label
  • Protein-C-Mangel (de)
  • Déficit en protéine C (fr)
  • Deficit di proteina C (it)
  • Protein C deficiency (en)
  • Wrodzony niedobór białka C (pl)
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