{"orpha":231393,"name":"Beta-thalassemia-X-linked thrombocytopenia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["XLTT"],"definition":"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231393/","orphanet_url":"https://www.orpha.net/en/disease/detail/231393","names":{"fr":{"name":"Bêta-thalassémie-thrombocytopénie liée à l'X","synonyms":["Thalassémie bêta-thrombocytopénie liée à l'X","XLTT"],"definition":"La bêta-thalassémie - thrombocytopénie liée à l'X est une forme de bêta-thalassémie (BT) caractérisée par une splénomégalie et des pétéchies, une thrombocytopénie modérée, un temps de saignement prolongé dû à un dysfonctionnement des plaquettes, une réticulocytose et une BT légère."},"de":{"name":"Beta-Thalassämie-X-chromosomale Thrombozytopenie-Syndrom","synonyms":["XLTT"],"definition":"Die Beta-Thalassämie - X-chromosomale Thrombozytopenie, eine Form der Beta-Thalassämie, ist gekennzeichnet durch Splenomegalie, Petechien, moderate Thrombozytopenie, verlängerte Blutungszeit als Folge einer Funktionsstörung der Thrombozyten, Retikulozytose und milde Beta-Thalassämie."},"es":{"name":"Síndrome de beta-talasemia-trombocitopenia ligada al cromosoma X","synonyms":["XLTT"],"definition":"La beta-talasemia - trombocitopenia ligada al cromosoma X es una forma de beta-talasemia (ver este término), caracterizada por petequias, esplenomegalia, trombocitopenia moderada y tiempo de sangría alargado (por disfunción plaquetaria), reticulocitosis y BT leve."},"it":{"name":"Beta talassemia - trombocitopenia legata all'X","synonyms":["XLTT"],"definition":"La beta talassemia-trombocitopenia legata all'X è una forma di beta talassemia (BT, si veda questo termine), caratterizzata da splenomegalia, petecchie, trombocitopenia moderata, allungamento del tempo di sanguinamento da disfunzione piastrinica, reticolocitosi e lieve BT."},"nl":{"name":"Bèta-thalassemie - X-gebonden trombocytopenie-syndroom","synonyms":["XLTT"],"definition":"Een vorm van bèta-thalassemie, gekenmerkt door splenomegalie en petechiën, matige trombocytopenie, verlengde bloedingstijd door disfunctie van bloedplaatjes, reticulocytose, en milde bèta-thalassemie."},"pt":{"name":"Talassemia beta - trombocitopenia ligada ao X","definition":"A beta-talassemia-trombocitopenia ligada ao X é uma forma de beta-talassemia (ver este termo), caracterizada por esplenomegalia e petequias, trombocitopenia moderada, tempo de sangramento prolongado devido à disfunção plaquetária, reticulocitose e leve beta-talassemia."},"pl":{"name":"Beta-talasemia - trombocytopenia sprzężona z chromosomem X","synonyms":["XLTT"]},"cs":{"name":"Syndrom zahrnující beta-talasémii a X-vázanou trombocytopenii","synonyms":["XLTT"]},"uk":{"name":"Синдром бета-таласемії - Х-зчепленої тромбоцитопенії","synonyms":["XLTT"],"definition":"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia."},"zh":{"name":"β-地中海贫血-X连锁血小板减少综合征","synonyms":["X连锁血小板减少综合征"],"definition":"β地中海贫血-X连锁血小板减少症是一种β地中海贫血（见该词条），其特征是脾肿大和瘀斑、中度血小板减少、血小板功能障碍致出血时间延长、网织红细胞增多症和轻度β地中海贫血。"},"tr":{"name":"Beta-talasemi-X'e bağlı trombositopeni sendromu","synonyms":["XLTT"]}},"xrefs":[{"source":"OMIM","code":"314050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A50.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"905057212"},{"source":"MONDO","code":"0010745","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564050","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1839161","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":231386,"name":"Syndromic beta-thalassemia","classifications":[156,194,233]}],"children":[],"genes":[{"symbol":"GATA1","name":"GATA binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301538[PMID]","hgnc":"4170","ensembl":"ENSG00000102145","omim":"305371","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["No data available"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011902","label":"Abnormal hemoglobin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011869","label":"Abnormal platelet function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null}]}}