{"orpha":166084,"name":"Von Willebrand disease type 2A","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 a decrease in the affinity of the Willebrand factor (VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166084/","orphanet_url":"https://www.orpha.net/en/disease/detail/166084","names":{"fr":{"name":"Maladie de von Willebrand type 2A","definition":"Sous-type de la maladie de von Willebrand de type 2 caractérisé par une maladie hémorragique associée à une diminution de l'affinité du facteur de Von Willebrand (VWF) pour les plaquettes et le sous-endothélium causée par un déficit en multimères VWF de haut poids moléculaire. Les symptômes sont des saignements cutanéo-muqueux (ménorragie, épistaxis, hémorragie gastro-intestinale, etc)."},"de":{"name":"Von-Willebrand-Erkrankung Typ 2A","synonyms":["Von-Willebrand-Syndrom Typ 2A","VWE Typ 2A"],"definition":"Ein Subtyp der von-Willebrand-Erkrankung (VWE) Typ 2, der durch eine Blutungsstörung gekennzeichnet ist, die mit einer verminderten Affinität des von-Willebrand-Faktors (VWF) für Thrombozyten und das Subendothel einhergeht und durch einen Mangel an hochmolekularen VWF-Multimeren verursacht wird. Die Krankheit äußert sich durch mukokutane Blutungen (Menorrhagie, Epistaxis, gastrointestinale Blutungen usw.)."},"es":{"name":"Enfermedad de Von Willebrand tipo 2A","definition":"Es un subtipo de la enfermedad de von Willebrand de tipo 2 caracterizado por un trastorno hemorrágico asociado a una disminución de la afinidad del factor Willebrand (FvW) por las plaquetas y el subendotelio causada por una deficiencia de multímeros del FvW de alto peso molecular. La enfermedad se manifiesta como una hemorragia mucocutánea (menorragia, epistaxis, hemorragia gastrointestinal, etc.)."},"it":{"name":"Malattia di von Willebrand, tipo 2A","definition":"Si tratta di un sottotipo della malattia di von Willebrand tipo 2, caratterizzato da una malattia emorragica associata ad una riduzione dell'affinità del fattore di von Willebrand (VWF) per le piastrine e il subendotelio, causata da un deficit dei multimeri del VWF ad alto peso molecolare. La malattia si manifesta con emorragie mucocutanee (menorragia, epistassi, emorragie gastrointestinali, ecc.)."},"nl":{"name":"Ziekte van von Willebrand type 2A","definition":"Een subtype van ziekte van von Willebrand type 2, gekarakteriseerd door een stollingsstoornis geassocieerd met een verlaagde affiniteit van von Willebrand-factor (VWF) voor trombocyten en subendotheel veroorzaakt door deficiëntie van VWF-multimeren met hoog moleculair gewicht. De ziekte manifesteert zich met mucocutane bloeding (menorragie, epistaxis, gastro-intestinale hemorragie, etc.)."},"pt":{"name":"Doença de Von Willebrand, tipo 2A"},"pl":{"name":"Choroba von Willebranda typu 2A","definition":"Podtyp choroby von Willebranda typu 2A, charakteryzujący się zaburzeniami krzepnięcia związanymi ze zmniejszeniem powinowactwa czynnika Willebranda (VWF) do płytek krwi i warstwy podśródbłonkowej wskutek niedoboru multimerów VWF o dużej masie cząsteczkowej. Choroba objawia się krwawieniami z błon śluzowych (obfite krwawienia miesiączkowe, krwawienie z nosa, krwotok z przewodu pokarmowego itp.)."},"cs":{"name":"Von Willebrandova nemoc, typ 2A"},"uk":{"name":"Хвороба фон Віллебранда, тип 2А","definition":"A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.)."},"zh":{"name":"血管性血友病1A型","definition":"2A型血管性血友病(2A型VWD)是2型VWD(见该词条)的一个亚型，其特征是由于缺乏高分子量VWF多聚体而导致血小板和内皮下膜血友病因子(血管性血友病因子,VWF)亲和力降低的出血性疾病。"},"tr":{"name":"Von Willebrand hastalığı tip 2A"}},"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":"1009291548"},{"source":"MONDO","code":"0015628","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1282968","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","Autosomal recessive"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}