{"orpha":166096,"name":"Von Willebrand disease type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166096/","orphanet_url":"https://www.orpha.net/en/disease/detail/166096","names":{"fr":{"name":"Maladie de von Willebrand type 3","definition":"Forme de maladie de von Willebrand caractérisée par un syndrome hémorragique dû à un déficit quasi-total en facteur von Willebrand (FVW) dans le plasma et les compartiments cellulaires, entraînant également un déficit plasmatique profond en facteur VIII (FVIII). Il s'agit de la forme la plus grave de la maladie."},"de":{"name":"Von-Willebrand-Erkrankung Typ 3","synonyms":["Von-Willebrand-Syndrom Typ 3","VWE Typ 3"],"definition":"Eine Form der von-Willebrand-Erkrankung (VWE), die durch eine Blutungsstörung gekennzeichnet ist, die mit einem vollständigen oder nahezu vollständigen Fehlen des von-Willebrand-Faktors (VWF) im Plasma und in den Zellkompartimenten einhergeht und auch zu einem tiefgreifenden Mangel an plasmatischem Faktor VIII (FVIII) führt. Es handelt sich um die schwerste Form der VWS."},"es":{"name":"Enfermedad de Von Willebrand tipo 3","definition":"Es una forma de la enfermedad de von Willebrand (EVW) caracterizada por un trastorno hemorrágico asociado a una ausencia total o casi total del factor von Willebrand (FVW) en los compartimentos plasmático y celular, lo que conduce a una deficiencia profunda del factor VIII (FVIII) plasmático. Es la forma más grave de la EVW."},"it":{"name":"Malattia di von Willebrand, tipo 3","synonyms":["Malattia di Willebrand, tipo 3"],"definition":"Si tratta di una forma della malattia di von Willebrand (VWD) caratterizzata da un disturbo emorragico associato all'assenza completa o quasi completa del fattore di Willebrand (VWF) nel plasma e nei compartimenti cellulari, con conseguente grave deficit del fattore VIII plasmatico (FVIII). Si tratta della forma più grave di VWD."},"nl":{"name":"Ziekte van von Willebrand type 3","definition":"Een vorm van ziekte van von Willebrand (VWD), gekenmerkt door een stollingsstoornis geassocieerd met totale of bijna totale afwezigheid van von Willebrand-factor (VWF) in plasma en celcompartimenten, wat ook leidt tot zeer ernstige deficiëntie van factor VIII (FVIII) in plasma. Het is de meest ernstige vorm van VWD."},"pt":{"name":"Doença de Von Willebrand, tipo 3","definition":"O tipo 3 da doença de von Willebrand (VWD tipo 3) é a forma mais grave da VWD (ver este termo) caracterizada por uma patologia hemorrágica associada a ausência total ou quase total do fator de Willebrand (fator de von Willebrand; VWF) no plasma e compartimentos celulares, levando também a uma deficiência profunda do fator VIII plasmático (FVIII)."},"pl":{"name":"Choroba von Willebranda typu 3","synonyms":["Choroba Willebranda typu 3"],"definition":"Postać choroby von Willebranda (VWD) charakteryzująca się zaburzeniami krzepnięcia, związanymi z całkowitym lub prawie całkowitym brakiem czynnika Willebranda (VWF) w osoczu i kompartmentach komórkowych, co prowadzi również do głębokiego niedoboru osoczowego czynnika VIII (FVIII). Jest to najcięższa postać choroby VWD."},"cs":{"name":"Von Willebrandova nemoc, typ 3"},"uk":{"name":"Хвороба фон Віллебранда, тип 3","definition":"A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD."},"zh":{"name":"血管性血友病3型","definition":"3型血管性血友病(3型VWD)是VWD(见该词条)中最严重的一种，其特征是与血浆和细胞区室内完全或几乎完全缺乏血友病因子(血管性血友病因子；VWF)相关的出血性疾病。该病也导致血浆因子VIII(FVIII)的严重缺乏。"},"tr":{"name":"Von Willebrand hastalığı tip 3"}},"xrefs":[{"source":"OMIM","code":"277480","qualifier":"E","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":"805917536"},{"source":"MONDO","code":"0010191","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D056729","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1264041","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":903,"name":"Von Willebrand disease","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":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1865,"area":"Worldwide","status":"Validated","source":"30306084[PMID]_33780098[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.037,"area":"Austria","status":"Validated","source":"6609712[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.24,"area":"Finland","status":"Validated","source":"6609712[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.016,"area":"France","status":"Validated","source":"6609712[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.044,"area":"Greece","status":"Validated","source":"6609712[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.16,"area":"Israel","status":"Validated","source":"6609712[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.055,"area":"Italy","status":"Validated","source":"6609712[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.037,"area":"Netherlands","status":"Validated","source":"6609712[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"Norway","status":"Validated","source":"6609712[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.022,"area":"Portugal","status":"Validated","source":"6609712[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.011,"area":"Spain","status":"Validated","source":"6609712[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.312,"area":"Sweden","status":"Validated","source":"6609712[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.027,"area":"United Kingdom","status":"Validated","source":"6609712[PMID]"}],"phenotypes":null}