{"orpha":166090,"name":"Von Willebrand disease type 2M","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 decreased affinity of the Willebrand factor (VWF) for platelets or collagen in the absence of any 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-166090/","orphanet_url":"https://www.orpha.net/en/disease/detail/166090","names":{"fr":{"name":"Maladie de von Willebrand type 2M","definition":"Sous-type de la maladie de von Willebrand type 2, caractérisé par une maladie hémorragique associée à une diminution de l'affinité du facteur von Willebrand (VWF) pour les plaquettes ou le collagène, non liée à la perte des multimères de plus haut poids moléculaire du VWF. La maladie se manifeste par des signes hémorragiques cutanéomuqueux (ménorragie, épistaxis, hémorragies gastro-intestinales, etc.)."},"de":{"name":"Von-Willebrand-Erkrankung Typ 2M","synonyms":["Von-Willebrand-Syndrom Typ 2M","VWE Typ 2M"],"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 oder Kollagen einhergeht, ohne dass ein Mangel an hochmolekularen VWF-Multimeren vorliegt. Die Krankheit manifestiert sich in Form von Schleimhautblutungen (Menorrhagie, Epistaxis, gastrointestinale Blutungen usw.)."},"es":{"name":"Enfermedad de Von Willebrand tipo 2M","definition":"Es un subtipo de la enfermedad de von Willebrand de tipo 2 que se caracteriza por un trastorno hemorrágico asociado a la disminución de la afinidad del factor Willebrand (FvW) por las plaquetas o el colágeno en ausencia de alguna deficiencia de los multímeros del FvW de elevado peso molecular. La enfermedad se manifiesta como una hemorragia mucocutánea (menorragia, epistaxis, hemorragia gastrointestinal, etc.)."},"it":{"name":"Malattia di von Willebrand, tipo 2M","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 o il collagene, in assenza di 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 2M","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 of collageen in afwezigheid van enige 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 2M"},"pl":{"name":"Choroba von Willebranda typu 2M","definition":"Podtyp choroby von Willebranda typu 2M charakteryzujący się zaburzeniami krzepnięcia związanymi ze zmniejszonym powinowactwem czynnika Willebranda (VWF) do płytek krwi lub kolagenu, przy braku niedoboru multimerów VWF o wysokiej 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 2M"},"uk":{"name":"Хвороба фон Віллебранда, тип 2М","definition":"A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with decreased affinity of the Willebrand factor (VWF) for platelets or collagen in the absence of any 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2M型","definition":"2M型血管性血友病(2M型VWD)是2型VWD(见该词条)的一个亚型，其特征是在没有任何高分子量VWF多聚体缺乏的情况下，与血小板和内皮下膜的血友病因子(血管性血友病因子；VWF)亲和力降低相关的出血性疾病。"},"tr":{"name":"Von Willebrand hastalığı tipi 2M"}},"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":"1358085002"},{"source":"MONDO","code":"0015630","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1282974","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}