{"orpha":166087,"name":"Von Willebrand disease type 2B","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with increased affinity of the Willebrand factor (VWF) for platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and VWF from the plasma. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166087/","orphanet_url":"https://www.orpha.net/en/disease/detail/166087","names":{"fr":{"name":"Maladie de von Willebrand type 2B","definition":"Sous-type rare de la maladie de von Willebrand de type 2 caractérisé par une maladie hémorragique associée à une affinité accrue du facteur Willebrand (VWF) pour les plaquettes, entraînant une élimination rapide des plaquettes (augmentant le risque de thrombocytopénie) et du VWF du plasma. La maladie se manifeste par des saignements cutanéo-muqueux (ménorragie, épistaxis, hémorragie gastro-intestinale, etc.)."},"de":{"name":"Von-Willebrand-Erkrankung Typ 2B","synonyms":["Von-Willebrand-Syndrom Typ 2B","VWE Typ 2B"],"definition":"Ein Subtyp der von-Willebrand-Erkrankung (VWE) Typ 2, der durch eine Blutungsstörung gekennzeichnet ist, die mit einer erhöhten Affinität des von-Willebrand-Faktors (VWF) für Thrombozyten einhergeht, was zu einer raschen Elimination sowohl der Thrombozyten (was das Risiko einer Thrombozytopenie erhöht) als auch des VWF aus dem Plasma führt. Die Krankheit äußert sich in Form von Schleimhautblutungen (Menorrhagie, Epistaxis, gastrointestinale Blutungen usw.)."},"es":{"name":"Enfermedad de Von Willebrand tipo 2B","definition":"Es un subtipo de la enfermedad de von Willebrand de tipo 2 que se caracteriza por un trastorno hemorrágico asociado a un aumento de la afinidad del factor de Willebrand (FvW) por las plaquetas, lo que conlleva una rápida eliminación tanto de las plaquetas (aumentando el riesgo de trombocitopenia) como del FvW del plasma. La enfermedad se manifiesta como una hemorragia mucocutánea (menorragia, epistaxis, hemorragia gastrointestinal, etc.)."},"it":{"name":"Malattia di von Willebrand, tipo 2B","definition":"Si tratta di un sottotipo della malattia di von Willebrand tipo 2, caratterizzato da una malattia emorragica associata ad una maggiore affinità del fattore di von Willebrand (VWF) per le piastrine, che causa una rapida rimozione dal plasma sia delle piastrine (con un conseguente aumento del rischio di trombocitopenia), che del VWF. La malattia si manifesta con emorragie mucocutanee (menorragia, epistassi, emorragie gastrointestinali, ecc.)."},"nl":{"name":"Ziekte van von Willebrand type 2B","definition":"Een subtype van ziekte van von Willebrand type 2, gekarakteriseerd door een stollingsstoornis geassocieerd met verhoogde affiniteit van von Willebrand-factor (VWF) voor trombocyten, wat leidt tot snelle klaring van zowel bloedplaatjes (wat het risico op trombocytopenie verhoogt) als VWF uit plasma. De ziekte manifesteert zich met mucocutane bloeding (menorragie, epistaxis, gastro-intestinale hemorragie, etc.)."},"pt":{"name":"Doença de Von Willebrand, tipo 2B"},"pl":{"name":"Choroba von Willebranda typu 2B","definition":"Podtyp choroby von Willebranda typu 2B charakteryzujący się zaburzeniami krzepnięcia związanymi ze zwiększonym powinowactwem czynnika Willebranda (VWF) do płytek krwi, co prowadzi do szybkiego usuwania zarówno płytek krwi (zwiększając ryzyko małopłytkowości), jak i VWF z osocza. Choroba objawia się krwawieniami z błon śluzowych (obfite krwawienia miesiączkowe, krwawienie z nosa, krwotok z przewodu pokarmowego itp.)."},"cs":{"name":"Von Willebrandova nemoc, typ 2b"},"uk":{"name":"Хвороба фон Віллебранда, тип 2B","definition":"A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with increased affinity of the Willebrand factor (VWF) for platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and VWF from the plasma. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.)."},"zh":{"name":"血管性血友病2B型","definition":"2B型血管性血友病(2B型VWD)是2型血管性血友病(见该词条)的一种亚型，其特征是与血小板血友病因子(血管性血友病因子,VWF)亲和力升高相关的出血性疾病。这种异常导致高分子量VWF多聚体与血小板的自发结合，造成血小板和高分子量VWF多聚体从血浆中快速清除(增加患血小板减少症的风险)。"},"tr":{"name":"Von Willebrand hastalığı tipi 2B"}},"xrefs":[{"source":"OMIM","code":"613554","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B12","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1383884415"},{"source":"MONDO","code":"0015629","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1282971","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":166081,"name":"Von Willebrand disease type 2","classifications":[156,194]}],"children":[],"genes":[{"symbol":"VWF","name":"von Willebrand factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301765[PMID]","hgnc":"12726","ensembl":"ENSG00000110799","omim":"613160","loci":["12p13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}