{"orpha":370131,"name":"White platelet syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"White platelet syndrome (WPS) is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-370131/","orphanet_url":"https://www.orpha.net/en/disease/detail/370131","names":{"fr":{"name":"Thrombocytopénie de White","definition":"Anomalies des granules plaquettaires caractérisée par une thrombocytopénie, une augmentation du volume plaquettaire moyen, une diminution de la réactivité des plaquettes aux agents agrégants et des défauts importants dans la morphologie ultrastructurale des plaquettes entraînant des temps de saignement prolongés et des hémorragies."},"de":{"name":"White-platelet-Syndrom"},"es":{"name":"Síndrome de las plaquetas de White","definition":"Es un trastorno de los gránulos plaquetarios caracterizado por trombocitopenia, aumento del volumen plaquetario medio, disminución de la capacidad de respuesta de las plaquetas a los agentes agregantes y defectos significativos en la morfología ultraestructural de las plaquetas que provocan hemorragias y tiempos de sangrado prolongados."},"it":{"name":"Sindrome delle piastrine bianche"},"nl":{"name":"White-bloedplaatjessyndroom","definition":"White bloedplaatjessyndroom (WPS) is een stoornis van de bloedplaatjesgranules die gekenmerkt wordt door trombocytopenie, verhoogde gemiddelde bloedplaatjesvolumes, verlaagde responsiviteit op aggregerende middelen, en significante defecten van de ultrastructurele bloedplaatjesmorfologie die leiden tot verlengde bloedingstijden en bloeding."},"pt":{"name":"Síndrome das plaquetas White"},"pl":{"name":"Zespół białych płytek"},"cs":{"name":"Porucha trombocytů, Whitové typ","synonyms":["Whitové trombocytopenie"]},"uk":{"name":"Синдром білих тромбоцитів","definition":"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding."},"zh":{"name":"白血小板综合征","definition":"白色血小板综合征(WPS)是一种以血小板减少、平均血小板体积增大、血小板对聚集剂反应性降低、血小板超微结构明显缺陷导致出血时间延长和出血为特征的血小板颗粒疾病。"},"tr":{"name":"Beyaz trombosit sendromu"}},"xrefs":[{"source":"ICD-10","code":"D69.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B62.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018269","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536702","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931293","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9282","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98455,"name":"Alpha granule disease","classifications":[156,194]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"15203719[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}