{"orpha":220436,"name":"Quebec platelet disorder","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Factor V Quebec"],"definition":"A rare platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-220436/","orphanet_url":"https://www.orpha.net/en/disease/detail/220436","names":{"fr":{"name":"Syndrome plaquettaire du Québec","synonyms":["Anomalie du FV plaquettaire","Anomalie du facteur V plaquettaire","Thrombopathie du Québec"],"definition":"Anomalie rare des granules plaquettaires caractérisée par des saignements modérés à sévères après un traumatisme, une intervention chirurgicale ou obstétrique, des ecchymoses fréquentes, des saignements cutanéo-muqueux et des saignements musculaires et articulaires."},"de":{"name":"Quebec-Platelet-Syndrom","synonyms":["Faktor V-Quebec","Quebec Plättchen-Störung"],"definition":"Eine seltene Störung der Blutplättchenfunktion, die durch mäßige bis starke Blutungen nach Traumata, Operationen oder geburtshilflichen Eingriffen, häufige Ekchymosen, mukokutane Blutungen sowie Muskel- und Gelenkblutungen gekennzeichnet ist."},"es":{"name":"Enfermedad plaquetaria de Quebec","synonyms":["Factor V Quebec"],"definition":"Es un trastorno poco frecuente de los gránulos plaquetarios caracterizado por sangrado de moderado a grave después de un traumatismo, cirugía o intervención obstétrica, equimosis frecuentes, sangrado mucocutáneo y sangrado muscular y articular."},"it":{"name":"Malattia delle piastrine del Quebec","synonyms":["Fattore V del Quebec"]},"nl":{"name":"Quebec-bloedplaatjesstoornis","synonyms":["Factor V Quebec"],"definition":"Een zeldzame aandoening van granulen van trombocyten, gekenmerkt door matige tot ernstige bloeding na trauma, chirurgie of obstetrische interventie, frequente ecchymose, mucocutane bloeding, en bloeding van spier en gewricht."},"pt":{"name":"Disfunção plaquetária do Quebec"},"pl":{"name":"Skaza krwotoczna płytkowa Quebec","synonyms":["Czynnik V Quebec"]},"cs":{"name":"Quebecký destičkový syndrom","synonyms":["Quebecký faktor V"]},"uk":{"name":"Квебекська хвороба тромбоцитів","synonyms":["Фактор V Квебек"],"definition":"A rare platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds."},"zh":{"name":"Quebec血小板疾病","synonyms":["Quebec凝血因子V"],"definition":"魁北克血小板综合征（QPS）是一种血小板颗粒性疾病，其特点是创伤、手术或产科干预后中重度出血、频繁瘀斑、皮肤粘膜出血、肌肉和关节出血。"},"tr":{"name":"Quebec trombosit bozukluğu","synonyms":["Faktör V Quebec"]}},"xrefs":[{"source":"OMIM","code":"601709","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B62.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1618741944"},{"source":"MONDO","code":"0011136","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536260","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866423","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8345","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":[{"symbol":"PLAU","name":"plasminogen activator, urokinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20007542[PMID]","hgnc":"9052","ensembl":"ENSG00000122861","omim":"191840","loci":["10q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.45,"area":"Specific population","status":"Validated","source":"21495923[PMID]_22102275[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Canada","status":"Validated","source":"18988861[PMID]_21495923[PMID]_22102275[PMID]"}],"phenotypes":null}