{"orpha":903,"name":"Von Willebrand disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary pseudohaemophilia","Hereditary von Willebrand disease"],"definition":"A rare, inherited bleeding disorder characterized by defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-903/","orphanet_url":"https://www.orpha.net/en/disease/detail/903","names":{"fr":{"name":"Maladie de von Willebrand","synonyms":["Maladie de von Willebrand constitutionnelle","Maladie de von Willebrand héréditaire"],"definition":"Coagulopathie héréditaire rare, d'origine génétique, caractérisée par un défaut d'adhésion des plaquettes et un défaut d'hémostase secondaire qui se manifeste par des saignements anormaux de gravité variable survenant soit spontanément, soit en association avec des gestes invasifs. On distingue trois sous-types principaux en fonction du type de défaut du facteur de von Willebrand : déficit partiel (type 1) ou total (type 3), et anomalies qualitatives/fonctionnelles (type 2)."},"de":{"name":"Von-Willebrand-Erkrankung","synonyms":["Hereditäre Pseudohämophilie","Hereditäres von-Willebrand-Syndrom","Von-Willebrand-Syndrom","VWE"],"definition":"Eine seltene vererbte Blutungsstörung, die durch eine gestörte Thrombozytenadhäsion und einen sekundären Gerinnungsdefekt gekennzeichnet ist und sich durch abnorme Blutungen unterschiedlichen Schweregrades äußert, die entweder spontan oder in Verbindung mit einem invasiven Eingriff auftreten. Je nach Art des Defekts des von-Willebrand-Faktors (VWF) werden drei Hauptuntertypen definiert: partieller (Typ 1) oder vollständiger (Typ 3) Mangel und qualitative/funktionelle Anomalien (Typ2)."},"es":{"name":"Enfermedad de Von Willebrand","synonyms":["Enfermedad de von Willebrand hereditaria","Pseudohemofilia hereditaria"],"definition":"Es un trastorno hemorrágico hereditario poco frecuente caracterizado por una adhesión plaquetaria defectuosa y un defecto de coagulación secundario que se manifiesta como una hemorragia anómala de gravedad variable que se produce de forma espontánea o asociada a un procedimiento invasivo. En función del tipo de defecto del factor von Willebrand, se definen tres subtipos principales: deficiencia parcial (tipo 1) o total (tipo 3), y anomalías cualitativas/ funcionales (tipo 2)."},"it":{"name":"Malattia di Von Willebrand","synonyms":["Pseudoemofilia ereditaria","Malattia di Willebrand ereditaria","Malattia di Willebrand"],"definition":"La malattia di Von Willebrand (VWD) è una malattia emorragica ereditaria rara, caratterizzata da anomalie dell'adesività delle piastrine e da un difetto della coagulazione secondario, che si manifesta con emorragie anomale di gravità variabile che insorgono spontaneamente o a seguito di una procedura invasiva. Si distinguono tre sottotipi della malattia in base al tipo di difetto del fattore di von Willebrand: deficit parziale (tipo 1) o totale (tipo 3) e anomalie qualitative/funzionali (tipo 2)."},"nl":{"name":"Ziekte van Von Willebrand","synonyms":["Erfelijke ziekte van Willebrand","Hereditaire pseudohemofilie"],"definition":"Een zeldzame, erfelijke stollingsstoornis, gekarakteriseerd door gebrekkige adhesie van bloedplaatjes en secundair coagulatiedefect dat zich manifesteert als abnormale bloeding met variabele gradaties van ernst die spontaan optreedt of geassocieerd is met een invasieve procedure. De drie voornaamste subtypes zijn gedefinieerd op basis van het type defect van von Willebrand-factor: partiele (type 1) of totale (type 3) deficiëntie, en kwalitatieve/functionele anomalieën (type 2)."},"pt":{"name":"Doença de von Willebrand","synonyms":["Doença de Willebrand"],"definition":"A doença de von Willebrand é uma patologia hemorrágica hereditária causada por uma anomalia genética levando a anomalias quantitativas, estruturais ou funcionais do fator de Willebrand (fator de von Willebrand; VWF). Foram definidos 2 principais grupos da deficiência VWF: quantitativa e parcial (tipo 1) ou total (tipo 3), e qualitativa (tipo 2) com vários subtipos (2A, 2B, 2M, 2N; ver estes termos)."},"pl":{"name":"Choroba Von Willebranda","synonyms":["Choroba Willebrand","Dziedziczna choroba Willebranda"]},"cs":{"name":"Von Willebrandova choroba","synonyms":["Dědičná von Willebrandova choroba"]},"uk":{"name":"Хвороба фон Віллебранда","synonyms":["Спадкова хвороба фон Віллебранда"],"definition":"A rare, inherited bleeding disorder characterized by defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2)."},"zh":{"name":"血管性血友病","synonyms":["遗传性von Willebrand 病"]},"tr":{"name":"Von Willebrand hastalığı","synonyms":["Kalıtsal von Willebrand hastalığı"]}},"xrefs":[{"source":"OMIM","code":"193400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"277480","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"314560","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613554","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"3B12","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2112021600"},{"source":"MONDO","code":"0019565","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19565","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D014842","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0042974","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7867","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10047715","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":68334,"name":"Rare hemorrhagic disorder due to a constitutional coagulation factors defect","classifications":[156,194]}],"children":[{"orpha":166078,"name":"Von Willebrand disease type 1","type":"Clinical subtype"},{"orpha":166081,"name":"Von Willebrand disease type 2","type":"Clinical subtype"},{"orpha":166096,"name":"Von Willebrand disease type 3","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":166078,"name":"Von Willebrand disease type 1"}},{"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"],"via":{"orpha":166096,"name":"Von Willebrand disease type 3"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Worldwide","status":"Validated","source":"10959685[PMID]_19874468[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-22","source":"20301765[PMID]_29083708[PMID]","terms":[{"hpo":"HP:0011869","label":"Abnormal platelet function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001872","label":"Abnormality of thrombocytes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008330","label":"Reduced von Willebrand factor activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000471","label":"Gastrointestinal angiodysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030129","label":"Impaired ristocetin cofactor assay activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000132","label":"Menorrhagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003125","label":"Reduced factor VIII activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004097","label":"Deviation of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005261","label":"Joint hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001935","label":"Microcytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040242","label":"Muscle hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000967","label":"Petechiae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003645","label":"Prolonged partial thromboplastin time","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005293","label":"Venous insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}