{"orpha":477787,"name":"Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PLA2G4A-related platelet dysfunction","Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency"],"definition":"A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcers. Mildly reduced levels of coagulation factor XI have been reported in addition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-477787/","orphanet_url":"https://www.orpha.net/en/disease/detail/477787","names":{"fr":{"name":"Maladie hémorragique par déficit en phospholipase-A2 alpha cytosolique","synonyms":["Anomalie plaquettaire associée à PLA2G4A"],"definition":"Maladie hématologique et intestinale génétique rare, caractérisée par l'apparition, dès l'enfance, d'une tendance aux saignements avec épistaxis, saignements gingivaux, saignements gastro-intestinaux, hématurie et ménorragies dus à une altération de l'agrégation et de la sécrétion des plaquettes, ainsi que par des ulcères gastro-intestinaux récurrents. Des taux légèrement réduits du facteur XI de la coagulation ont également été rapportés."},"de":{"name":"Blutungskrankheit mit assoziiertem Mangel der zytosolischen Phospholipase-A2 alpha","synonyms":["PLA2G4A-abhängige Plättchendysfunktion","Plättchendysfunktion durch zytosolischen Phospholipase-A2 alpha-Mangel"],"definition":"Eine seltene genetisch bedingte hämatologische und intestinale Erkrankung, die durch eine im Kindesalter einsetzende Blutungsneigung mit Epistaxis, Zahnfleischbluten, gastrointestinalen Blutungen, Hämaturie und Menorrhagie aufgrund einer gestörten Thrombozytenaggregation und -sekretion sowie rezidivierenden gastrointestinalen Ulcera gekennzeichnet ist. Darüber hinaus wurde über leicht verringerte Werte des Gerinnungsfaktors XI berichtet."},"es":{"name":"Trastorno de sangrado asociado a una deficiencia de fosfolipasa A2 alfa citosólica","synonyms":["Disfunción plaquetaria asociada al gen PLA2G4A","Disfunción plaquetaria por deficiencia de fosfolipasa-A2 alfa citosólica"],"definition":"Es una enfermedad hematológica e intestinal de origen genético, poco frecuente y caracterizada por la aparición, en la infancia, de una tendencia hemorrágica con epistaxis, sangrado de encías, hemorragia gastrointestinal, hematuria y menorragia debida a una alteración de la agregación y de la secreción plaquetarias, acompañada de úlceras gastrointestinales recurrentes. Además, se ha descrito una leve disminución de los niveles del factor de coagulación XI."},"it":{"name":"Malattia emorragica associata al deficit di fosfolipasi A2 alfa citosolica","definition":"Si tratta di una malattia ematologica e intestinale rara, di origine genetica, che esordisce nell'infanzia con tendenza alle emorragie, con epistassi, sanguinamento delle gengive, emorragie gastrointestinali, ematuria e menorragia, causate da una anomalia dell'aggregazione e della secrezione delle piastrine, e con ulcere gastrointestinali ricorrenti. I pazienti possono presentare anche una lieve riduzione del fattore XI della coagulazione."},"nl":{"name":"Bloedingsziekte geassocieerd met deficiëntie van cytosolisch fosfolipase-A2-alfa","synonyms":["Bloedplaatjesdisfunctie door deficiëntie van cytosolisch fosfolipase-A2-alfa","PLA2G4A-gerelateerde bloedplaatjesdisfunctie"],"definition":"Een zeldzame, genetische hematologische en intestinale aandoening, gekarakteriseerd door aanvang in de kindertijd van bloedingsneiging met epistaxis, bloeding van tandvlees, gastro-intestinale bloeding, hematurie, en menorragie door verstoorde aggregatie en secretie van bloedplaatjes, alsook recidiverende gastro-intestinale ulcus. Eveneens werden mild gereduceerde gehaltes van stollingsfactor XI gerapporteerd."},"pt":{"name":"Alteração hemorrágica associada a défice de fosfolipase-A2 alfa citosólica"},"pl":{"name":"Zaburzenia krzepnięcia związane z niedoborem cytozolowej fosfolipazy A2 alfa","synonyms":["Dysfunkcja płytek spowodowana niedoborem cytozolowej fosfolipazy A2 alfa","Dysfunkcja płytek związana z plA2G4A"]},"cs":{"name":"Deficit cytosolické fosfolipázy A2 alfa spojený s krvácivostí","synonyms":["PLA2G4A-related platelet dysfunction","Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency","Dysfunkce destiček související s PLA2G4A","Dysfunkce krevních destiček způsobená deficitem cytosolické fosfolipázy-A2 alfa"]},"uk":{"name":"Дефіцит цитозольної фосфоліпази-А2 альфа, асоційований з кровотечею","synonyms":["Дисфункція тромбоцитів, повязана з PLA2G4A","Дисфункція тромбоцитів внаслідок дефіциту цитозольної фосфоліпази-А2 альфа"],"definition":"A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcera. Mildly reduced levels of coagulation factor XI have been reported in addition."},"zh":{"name":"胞质磷脂酶-A2α缺乏相关的出血性疾病","synonyms":["PLAG4A相关的血小板功能障碍"],"definition":"一种罕见的遗传性血液病和肠道疾病，其特点是儿童期发病，由于血小板聚集和分泌障碍而出现出血倾向，伴有鼻出血、牙龈出血、胃肠道出血、血尿和月经过多，以及反复发作的胃肠道溃疡。此外，有报道称凝血因子XI水平轻度降低。"},"tr":{"name":"Sitozolik fosfolipaz-A2 alfa eksikliği -ilişkili kanama bozukluğu","synonyms":["Sitosolik fosfolipaz-A2 alfa eksikliğine bağlı trombosit disfonksiyonu","PLA2G4A-ilişkili trombosit disfonksiyonu"]}},"xrefs":[{"source":"OMIM","code":"618372","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":"attributed","validated":true},{"source":"MONDO","code":"0018794","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567651","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":165655,"name":"Genetic intestinal disease","classifications":[156]},{"orpha":275736,"name":"Rare hemorrhagic disorder due to a qualitative platelet defect","classifications":[156,194]},{"orpha":117569,"name":"Rare intestinal disease","classifications":[152]}],"children":[],"genes":[{"symbol":"PLA2G4A","name":"phospholipase A2 group IVA","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25102815[PMID]_18451993[PMID]","hgnc":"9035","ensembl":"ENSG00000116711","omim":"600522","loci":["1q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25102815[PMID]_18451993[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25102815[PMID]_18451993[PMID]"}],"phenotypes":null}