{"orpha":52530,"name":"Pseudo-von Willebrand disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PT-VWD","Platelet type-von Willebrand disease","Pseudo-von Willebrand disease type 2B"],"definition":"A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-52530/","orphanet_url":"https://www.orpha.net/en/disease/detail/52530","names":{"fr":{"name":"Maladie de von Willebrand type plaquette","synonyms":["PT-VWD","Pseudo-maladie de von Willebrand","Pseudo-maladie de von Willebrand type 2B"],"definition":"Coagulopathie rare caractérisée par des saignements cutanéo-muqueux légers à modérés, qui s'accentuent pendant la grossesse ou après l'ingestion d'antiplaquettaires. Cette maladie est due à une hyperréactivité plaquettaire à l'origine d'une thrombocytopénie."},"de":{"name":"Pseudo-von-Willebrand-Syndrom","synonyms":["Plättchentyp des Von-Willebrand-Syndroms","Pseudo-von-Willebrand-Syndrom Typ 2B","PT-vWS","VWDP"],"definition":"Eine Blutungsstörung, die durch leichte bis mittelschwere Schleimhautblutungen gekennzeichnet ist, die während der Schwangerschaft oder nach der Einnahme von Medikamenten mit plättchenhemmender Wirkung stärker ausgeprägt sind. Diese Krankheit ist auf überempfindliche Blutplättchen zurückzuführen, was zu einer Thrombozytopenie führt."},"es":{"name":"Enfermedad de pseudo-Von Willebrand","synonyms":["Enfermedad de Von Willebrand tipo plaquetario","Enfermedad de pseudo-Von Willebrand tipo 2B","PT-VWD"],"definition":"Es un trastorno hemorrágico caracterizado por hemorragia mucocutánea de leve a moderada, que se acentúa durante el periodo de gestación o por ingestión de fármacos con actividad antiplaquetaria. La enfermedad es debida a la hiperreactividad de las plaquetas, lo que provoca trombocitopenia."},"it":{"name":"Malattia di von Willebrand, tipo piastrinico","synonyms":["Malattia pseudo-von Willebrand","Malattia pseudo-von Willebrand, tipo 2B","PT-VWD"]},"nl":{"name":"Pseudoziekte van von Willebrand","synonyms":["PT-VWD","Pseudoziekte van von Willebrand type 2B","Ziekte van von Willebrand, bloedplaatjes-type"],"definition":"Pseudo-von Willebrandziekte (PT-VWD) is een bloedingsstoornis die gekenmerkt wordt door milde tot matige mucocutane bloeding, die meer uitgesproken wordt tijdens de zwangerschap of na inname van geneesmiddelen die een antibloedplaatjesactiviteit hebben. PT-VWD is te wijten aan hyperresponsieve bloedplaatjes, wat resulteert in trombocytopenie."},"pt":{"name":"Doença pseudo-Von Willebrand"},"pl":{"name":"Choroba pseudo-Von Willebranda","synonyms":["PT-VWD","Choroba pseudo-Von Willebranda typu 2B"]},"cs":{"name":"Pseudo-Von Willebrandova nemoc","synonyms":["PT-VWD","Pseudo-Von Willebrandova nemoc, typ 2B"]},"uk":{"name":"Псевдо-хвороба Віллебранда","synonyms":["Хвороба тромбоцитів типу Віллебранда","Псевдо-хвороба Віллебранда, тип 2B","PT-VWD"],"definition":"A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia."},"zh":{"name":"血管性假血友病","synonyms":["2B型假血管性血友病"]},"tr":{"name":"Psödo-von Willebrand hastalığı","synonyms":["PT-VWD","Trombosit tipi von Willebrand hastalığı","Pseudo-von Willebrand hastalığı tipi 2B"]}},"xrefs":[{"source":"OMIM","code":"177820","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B62.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1296668584"},{"source":"MONDO","code":"0008332","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536458","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1280798","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8312","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":275736,"name":"Rare hemorrhagic disorder due to a qualitative platelet defect","classifications":[156,194]}],"children":[],"genes":[{"symbol":"GP1BA","name":"glycoprotein Ib platelet subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"2052556[PMID]","hgnc":"4439","ensembl":"ENSG00000185245","omim":"606672","loci":["17p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"23327637[PMID]_21301777[PMID]_23934752[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}