{"orpha":67044,"name":"Thrombocytopenia with congenital dyserythropoietic anemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital dyserythropoietic anemia with thombocytopenia","X-linked congenital dyserythropoietic anemia with thrombocytopenia","XDAT"],"definition":"A rare hematological disorder characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. The disease affects almost exclusively males.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-67044/","orphanet_url":"https://www.orpha.net/en/disease/detail/67044","names":{"fr":{"name":"Thrombocytopénie avec anémie dysérythropoïétique congénitale","synonyms":["Anémie dysérythropoïétique congénitale avec thrombocytopénie","Syndrome d'anémie dysérythropoïétique congénitale-thrombocytopénie lié à l'X","XDAT"],"definition":"Maladie hématologique rare caractérisée par une thrombocytopénie modérée à sévère accompagnée d'hémorragies, associée ou non d'une anémie allant de légère à sévère. La maladie touche presque exclusivement les hommes."},"de":{"name":"Thrombozytopenie mit kongenitaler dyserythropoetischer Anämie","synonyms":["X-chromosomale Thrombozytopenie mit CDA","X-chromosomale kongenitale dyserythropoetische Anämie mit Thrombozytopenie","XDAT"],"definition":"Eine seltene hämatologische Störung, die durch eine mäßige bis schwere Thrombozytopenie mit Blutungen mit oder ohne leichte bis schwere Anämie gekennzeichnet ist. Die Krankheit betrifft fast ausschließlich das männliche Geschlecht."},"es":{"name":"Trombocitopenia con anemia diseritropoyética congénita","synonyms":["Anemia diseritropoyética congénita con trombocitopenia","Anemia diseritropoyética congénita ligada al cromosoma X con trombocitopenia","XDAT"],"definition":"Es un trastorno hematológico infrecuente, caracterizado por trombocitopénia, de moderada a grave, con hemorrágias, asociadas o no a anemia de intensidad variable . Afecta casi exclusivamente al sexo masculino."},"it":{"name":"Trombocitopenia con anemia diseritropoietica congenita","synonyms":["Anemia diseritropoieitica congenita con trombocitopenia","Anemia diseritropoieitica congenita legata all'X con trombocitopenia","XDAT"],"definition":"La trombocitopenia con anemia diseritropoietica congenita (CDA; si veda questo termine) è un'emopatia rara, descritta quasi esclusivamente nei maschi, caratterizzata da trombocitopenia moderata-grave associata a emorragie, con o senza anemia lieve-grave."},"nl":{"name":"Trombocytopenie met congenitale dyserytropoëtische anemie","synonyms":["Congenitale dyserytropoëtische anemie met trombocytopenie","X-gebonden congenitale dyserytropoëtische anemie met trombocytopenie","XDAT"],"definition":"Een zeldzame hematologische aandoening, gekenmerkt door matige tot ernstige trombocytopenie met bloedingen, met of zonder aanwezigheid van milde tot ernstige anemie. De ziekte treft nagenoeg enkel mannen."},"pt":{"name":"Anemia diseritropoiética com trombocitopenia","synonyms":["Anemia e trombocitopenia diseritropoiética ligada ao X"]},"pl":{"name":"Trombocytopenia z wrodzoną niedokrwistością dyserytropoetyczną","synonyms":["Wrodzona niedokrwistość dyserytropoetyczna z małopłytkowością","Wrodzona niedokrwistość dyserytropoetyczna z małopłytkowością sprzężona z chromosomem X","XDAT"]},"cs":{"name":"Trombocytopenie s vrozenou dyserytropoetickou anémií","synonyms":["Vrozená dyserytropoetická anémie s trombocytopenií","X-vázaná vrozená dyserytropoetická anémie s trombocytopenií","XDAT"]},"uk":{"name":"Тромбоцитопенія при вродженій дизеритропоетичній анемії","synonyms":["Вроджена дизеритропоетична анемія з тромбоцитопенією","XDAT","Х-зчеплена вроджена дизеритропоетична анемія з тромбоцитопенією"],"definition":"Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia."},"zh":{"name":"血小板减少症伴先天性红细胞生成障碍性贫血","synonyms":["X-连锁先天性红细胞生成障碍性贫血伴血小板减少"]},"tr":{"name":"Doğumsal diseritropoietik anemi ile seyreden trombositopeni","synonyms":["XDAT","Tombositopeni ile seyreden Doğumsal dizeritropoietik anemi","Trombositopeni ile seyreden X'e bağlı Doğumsal diseritropoietik anemi"]}},"xrefs":[{"source":"OMIM","code":"300367","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A73","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"383332048"},{"source":"MONDO","code":"0019031","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302508","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":85,"name":"Congenital dyserythropoietic anemia","classifications":[156,194]},{"orpha":220452,"name":"Isolated hereditary giant platelet disorder","classifications":[156,194]}],"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":null,"hgnc":"4170","ensembl":"ENSG00000102145","omim":"305371","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"20301538[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-12","source":"11809723[PMID]_10700180[PMID]","terms":[{"hpo":"HP:0045040","label":"Abnormal lactate dehydrogenase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012143","label":"Abnormal megakaryocyte morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012145","label":"Abnormality of multiple cell lineages in the bone marrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010972","label":"Anemia of inadequate production","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011273","label":"Anisocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001931","label":"Hypochromic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040185","label":"Macrothrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004447","label":"Poikilocytosis","frequency":"Very frequent (99-80%)","criteria":null}]}}