{"orpha":166078,"name":"Von Willebrand disease type 1","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 partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166078/","orphanet_url":"https://www.orpha.net/en/disease/detail/166078","names":{"fr":{"name":"Maladie de von Willebrand type 1","definition":"Forme de maladie de Willebrand caractérisée par un syndrome hémorragique dû un déficit quantitatif partiel en facteur von Willebrand plasmatique (FVW) ne présentant aucune anomalie de structure ni de fonction."},"de":{"name":"Von-Willebrand-Erkrankung Typ 1","synonyms":["Von-Willebrand-Syndrom Typ 1","VWE Typ 1"],"definition":"Eine Form der von-Willebrand-Erkrankung (VWE), die durch eine Blutungsstörung gekennzeichnet ist, die mit einem partiellen, quantitativen plasmatischen Mangel eines ansonsten strukturell und funktionell normalen von-Willebrand-Faktors (VWF) einhergeht."},"es":{"name":"Enfermedad de Von Willebrand tipo 1","definition":"Es una forma de la enfermedad de von Willebrand (EVW) caracterizada por un trastorno hemorrágico asociado a un déficit cuantitativo parcial del factor Willebrand (FvW) plasmático que no presenta ninguna anomalía estructural o funcional."},"it":{"name":"Malattia di von Willebrand tipo 1","synonyms":["Malattia di Willebrand, tipo 1"],"definition":"Si tratta di una forma della malattia di Von Willebrand (VWD), caratterizzata da una malattia emorragica associata ad un deficit quantitativo plasmatico parziale del fattore di von Willebrand (VWF), peraltro normale dal punto di vista strutturale e funzionale."},"nl":{"name":"Ziekte van von Willebrand type 1","definition":"Een vorm van ziekte van von Willebrand (VWD), gekarakteriseerd door een bloedingsstoornis geassocieerd met partiele, kwantitatieve deficiëntie in plasma van een voor het overige structureel en functioneel normale von Willebrand-factor (VWF)."},"pt":{"name":"Doença de Von Willebrand, tipo 1","definition":"A doença de von Willebrand tipo 1 (VWD tipo 1) é uma forma de VWD (ver este termo) caracterizada por uma doença hemorrágica associada a uma deficiência plasmática quantitativa parcial de factor de Willebrand (factor de von Willebrand; VWF) de resto estrutural e funcionalmente normal."},"pl":{"name":"Choroba von Willebranda typu 1","synonyms":["Choroba Willebranda typu 1"]},"cs":{"name":"Von Willebrandova nemoc, typ 1","synonyms":["Willebrandova nemoc"]},"uk":{"name":"Хвороба фон Віллебранда, тип 1","definition":"A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF)."},"zh":{"name":"血管性血友病1型","definition":"1型血管性血友病(1型VWD)是VWD的一种(见该词条)，其特征是与血友病因子(血管性血友病因子；VWF)结构功能正常的部分定量血浆缺乏相关的出血性疾病。"},"tr":{"name":"Von Willebrand hastalığı tip 1"}},"xrefs":[{"source":"OMIM","code":"193400","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":"1861858008"},{"source":"MONDO","code":"0008668","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D056725","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1264039","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 dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}