{"orpha":85,"name":"Congenital dyserythropoietic anemia","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["CDA"],"definition":"A group of hematologic diseases characterized by impaired late-stage erythropoiesis and abnormal erythroid precursors, leading to chronic anemia of variable severity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85/","orphanet_url":"https://www.orpha.net/en/disease/detail/85","names":{"fr":{"name":"Anémie dysérythropoïétique congénitale","synonyms":["CDA"],"definition":"Groupe de maladies hématologiques caractérisées par une érythropoïèse tardive altérée et des précurseurs érythroïdes anormaux, entraînant une anémie chronique de sévérité variable."},"de":{"name":"Anämie, dyserythropoetische kongenitale","synonyms":["CDA"],"definition":"Eine Gruppe hämatologischer Erkrankungen, die durch eine gestörte Erythropoese im Spätstadium und abnorme erythroide Vorläuferzellen gekennzeichnet sind und zu chronischer Anämie unterschiedlichen Schweregrades führen."},"es":{"name":"Anemia diseritropoyética congénita","synonyms":["CDA"],"definition":"Es un grupo de enfermedades hematológicas caracterizadas por una alteración de la eritropoyesis tardía y por anomalías de los precursores eritroides, lo que provoca anemia crónica de intensidad variable."},"it":{"name":"Anemia diseritropoietica congenita","synonyms":["CDA"],"definition":"L'anemia diseritropoietica congenita (CDA) definisce un gruppo eterogeneo di patologie ematologiche caratterizzate da eritropoiesi tardiva e anomalie eritrocitarie, che provocano anemia. Sono stati identificati cinque tipi di CDA: CDA I, CDA II, CDA III, CDA IV e la trombocitopenia con CDA (si vedano questi termini)."},"nl":{"name":"Congenitale dyserytropoëtische anemie","synonyms":["CDA"],"definition":"Een groep van hematologische aandoeningen, gekenmerkt door een verstoord laat stadium van erytropoëse en abnormale erytroïde voorlopercellen, wat leidt tot chronische anemie met variabele ernst."},"pt":{"name":"Anemia diseritropoiética congénita","synonyms":["CDA"]},"pl":{"name":"Wrodzona niedokrwistość dyserytropoetyczna","synonyms":["CDA"],"definition":"Wrodzona niedokrwistość dyserytropoetyczna (CDA) jest heterogenną grupą chorób hematologicznych końcowej fazy erytropoezy i nieprawidłowości krwinek czerwonych, co prowadzi do wystąpienia niedokrwistości. Zdefiniowano pięć typów CDA: CDA I, CDA II, CDA III, CDA IV i trombocytopenię z CDA."},"cs":{"name":"Vrozená dyserytropoetická anémie","synonyms":["CDA"]},"uk":{"name":"Вроджена дизеритропоетична анемія","synonyms":["CDA"],"definition":"Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA (see these terms)."},"zh":{"name":"先天性红细胞生成障碍性贫血","synonyms":["CDA"]},"tr":{"name":"Doğumsal dizeritropoietik anemi","synonyms":["CDA"]}},"xrefs":[{"source":"OMIM","code":"105600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"224100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"224120","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613673","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615631","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619789","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D64.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"3A73","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"899830967"},{"source":"MONDO","code":"0019403","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000742","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0002876","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1999","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081457","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":293830,"name":"Constitutional dyserythropoietic anemia","classifications":[156,194]}],"children":[{"orpha":293825,"name":"Autosomal dominant KLF1-related dyserythropoietic anemia","type":"Disease"},{"orpha":727394,"name":"Autosomal recessive KLF1-related severe anemia","type":"Disease"},{"orpha":98869,"name":"Congenital dyserythropoietic anemia type I","type":"Disease"},{"orpha":98873,"name":"Congenital dyserythropoietic anemia type II","type":"Disease"},{"orpha":98870,"name":"Congenital dyserythropoietic anemia type III","type":"Disease"},{"orpha":67044,"name":"Thrombocytopenia with congenital dyserythropoietic anemia","type":"Disease"},{"orpha":363727,"name":"X-linked dyserythropoietic anemia with abnormal platelets and neutropenia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.16,"area":"Europe","status":"Not yet validated","source":"20824457[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"20824457[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":740.0,"area":"Worldwide","status":"Validated","source":"20665989[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}