{"orpha":220448,"name":"Macrothrombocytopenia with mitral valve insufficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-220448/","orphanet_url":"https://www.orpha.net/en/disease/detail/220448","names":{"fr":{"name":"Macrothrombocytopenie avec insuffisance mitrale","definition":"Maladie hémorragique rare par anomalie des plaquette caractérisée par des plaquettes dysfonctionnelles de taille anormalement grande, une thrombocytopénie modérée, un temps de saignement allongé et une diathèse hémorragique légère (ecchymoses et épistaxis), associée à une insuffisance mitrale."},"de":{"name":"Makrothrombozytopenie mit Mitralklappeninsuffizienz"},"es":{"name":"Macrotrombocitopenia con insuficiencia mitral","definition":"La macrotrombocitopenia con insuficiencia de la válvula mitral es un trastorno hemorrágico poco frecuente debido a una anomalía plaquetaria. Está caracterizada por plaquetas disfuncionales de tamaño anormalmente grande, trombocitopenia moderada, tiempo de sangrado prolongado y leve diátesis de sangrado (equimosis y epistaxis), asociadas a insuficiencia de la válvula mitral."},"it":{"name":"Macrotrombocitopenia con insufficienza della valvola mitrale","definition":"La macrotrombocitopenia associata all'insufficienza della valvola mitrale è una malattia emorragica rara secondaria ad un'anomalia delle piastrine. È caratterizzata da piastrine disfunzionali eccessivamente grandi, trombocitopenia moderata, tempo di sanguinamento prolungato e lieve diatesi emorragica (ecchimosi ed epistassi), associati ad insufficienza della valvola mitrale."},"nl":{"name":"Macrotrombocytopenie met mitralisklepinsufficiëntie","definition":"Macrotrombocytopenie met mitralisklepinsufficiëntie is een zeldzame hemorragische stoornis als gevolg van een anomalie van bloedplaatjes, en wordt gekarakteriseerd door disfunctionele trombocyten met abnormaal grote omvang, matige trombocytopenie, langere bloedingstijd en milde bloedingsdiathese (ecchymoses en epistaxis), geassocieerd met mitralisklepinsufficiëntie."},"pt":{"name":"Macrotrombocitopenia com insuficiência da válvula mitral"},"pl":{"name":"Makrotrombocytopenia z niewydolnością zastawki mitralnej","definition":"*Makrotrombocytopenia z niedomykalnością zastawki mitralnej jest rzadkim zaburzeniem krwotocznym spowodowanym wadą płytek krwi, które charakteryzuje się dysfunkcją płytek krwi o nieprawidłowo dużych rozmiarach, umiarkowaną małopłytkowością, wydłużonym czasem krwawienia i łagodną skazą krwotoczną (wybroczyny i krwawienie z nosa), któremu towarzyszy niedomykalność zastawki mitralnej."},"cs":{"name":"Makrotrombocytopenie s mitrální insuficiencí"},"uk":{"name":"Макротромбоцитопенія при недостатності мітрального клапана","definition":"Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency."},"zh":{"name":"巨血小板减少症伴二尖瓣关闭不全","definition":"巨血小板减少症伴二尖瓣关闭不全是一种由血小板异常所致的罕见的出血性疾病，其特征是血小板形态异常大，中度血小板减少，出血时间延长和轻度出血表现（瘀斑和鼻出血），并伴有二尖瓣关闭不全。"},"tr":{"name":"Mitral kapak yetmezliği ile birlikte makro trombositopeni"}},"xrefs":[{"source":"ICD-10","code":"D69.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B62.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1854995959"},{"source":"MONDO","code":"0016360","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749648","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":477794,"name":"Syndromic constitutional thrombocytopenia","classifications":[156,194]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"9482416[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9482416[PMID]"}],"phenotypes":null}