{"orpha":166093,"name":"Von Willebrand disease type 2N","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 marked decrease in the affinity of the Willebrand factor (VWF) for factor VIII (FVIII). Abnormal bleeding manifestations are less frequent in this VWD subtype than in other forms of the disease. The disease manifests mainly as soft tissue bleeding (haematoma, post-operative bleeding, etc.).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166093/","orphanet_url":"https://www.orpha.net/en/disease/detail/166093","names":{"fr":{"name":"Maladie de von Willebrand type 2N","definition":"Sous-type de la maladie de von Willebrand type 2 caractérisé par un syndrome hémorragique associé à une diminution marquée de l'affinité du facteur Willebrand (VWF) pour le facteur VIII (FVIII). La fréquence des manifestations hémorragiques anormales est moindre par rapport à d'autres formes de la maladie. La maladie se manifeste principalement par une hémorragie des tissus mous (hématome, hémorragie post-opératoire, etc.)."},"de":{"name":"Von-Willebrand-Erkrankung Typ 2N","synonyms":["VWE Typ 2N","Von-Willebrand-Syndrom Typ 2N"],"definition":"Ein Subtyp der von-Willebrand-Erkrankung (VWE) Typ 2, der durch eine Blutungsstörung gekennzeichnet ist, die mit einer deutlichen Abnahme der Affinität des von-Willebrand-Faktors (VWF) für Faktor VIII (FVIII) einhergeht. Abnormale Blutungsmanifestationen sind bei diesem VWE-Subtyp weniger häufig als bei anderen Formen der Krankheit. Die Krankheit äußert sich hauptsächlich in Form von Weichteilblutungen (Hämatome, postoperative Blutungen usw.)."},"es":{"name":"Enfermedad de Von Willebrand tipo 2N","definition":"Es un subtipo de la enfermedad de von Willebrand (EvW) de tipo 2 caracterizado por un trastorno hemorrágico asociado a una marcada disminución de la afinidad del factor Willebrand (FvW) por el factor VIII (FVIII). Las manifestaciones hemorrágicas anómalas son menos frecuentes en este subtipo de la EvW que en otras formas de la enfermedad. Se manifiesta principalmente como hemorragia de los tejidos blandos (hematomas, hemorragias postoperatorias, etc.)."},"it":{"name":"Malattia di von Willebrand, tipo 2N","definition":"Si tratta di un sottotipo della malattia di von Willebrand tipo 2, caratterizzato da una malattia emorragica associata ad una marcata riduzione dell'affinità del fattore di von Willebrand (VWF) per il fattore VIII (FVIII). In questo sottotipo della VWD le anomalie emorragiche sono meno frequenti rispetto alle altre forme della malattia. La malattia si manifesta per lo più con emorragie dei tessuti molli (ematomi, emorragie post-operatorie, ecc.)."},"nl":{"name":"Ziekte van von Willebrand type 2N","definition":"Een subtype van ziekte van von Willebrand type 2, gekarakteriseerd door een stollingsstoornis geassocieerd met een uitgesproken lagere affiniteit van von Willebrand-factor (VWF) voor factor VIII (FVIII). Manifestaties met abnormale bloeding komen minder vaak voor bij dit subtype van VWD in vergelijking met andere vormen van de ziekte. De aandoening manifesteert zich voornamelijk met bloeding van weke delen (hematoom, postoperatieve bloeding, etc.)."},"pt":{"name":"Doença de Von Willebrand, tipo 2N","definition":"A doença de von Willebrand tipo 2N (VWD tipo 2N) é um subtipo da VWD tipo 2 (ver este termo) caracterizada por patologia hemorrágica associada a uma diminuição marcada da afinidade do fator de Willebrand (factor de von Willebrand; VWF) para o factor VIII (FVIII)."},"pl":{"name":"Choroba von Willebranda typu 2N","definition":"Podtyp choroby von Willebranda typu 2N charakteryzujący się zaburzeniami krzepnięcia związanymi ze znacznym zmniejszeniem powinowactwa czynnika Willebranda (VWF) do czynnika VIII (FVIII). Nieprawidłowe krwawienia występują rzadziej niż w innych postaciach choroby, dotyczą głównie tkanek miękkich (krwiak, krwawienie pooperacyjne itp.)."},"cs":{"name":"Von Willebrandova nemoc, typ 2N"},"uk":{"name":"Хвороба фон Віллебранда, тип 2N","definition":"A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (VWF) for factor VIII (FVIII). Abnormal bleeding manifestations are less frequent in this VWD subtype than in other forms of the disease. The disease manifests mainly as soft tissue bleeding (haematoma, post-operative bleeding, etc.)."},"zh":{"name":"血管性血友病2N型","definition":"2N型血管性血友病(2N型VWD)是2型VWD的一种亚型，其特征是与血友病因子(血管性血友病因子；VWF)和因子VIII(FVIII)亲和力显著降低相关的出血性疾病。"},"tr":{"name":"Von Willebrand hastalığı tipi 2N"}},"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":"1091176565"},{"source":"MONDO","code":"0015631","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1282975","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 recessive"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}