{"orpha":98873,"name":"Congenital dyserythropoietic anemia type II","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDA II","CDA type 2","CDA type II","Congenital dyserythropoietic anemia type 2","Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)","SEC23B-CDG"],"definition":"A form of congenital dyserythropoietic anemia characterized by anemia, jaundice, splenomegaly, gallstones, and often iron overload.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98873/","orphanet_url":"https://www.orpha.net/en/disease/detail/98873","names":{"fr":{"name":"Anémie dysérythropoïétique congénitale type II","synonyms":["Anémie dysérythropoïétique congénitale type 2","CDA II","CDA type 2","CDA type II","HEMPAS","Multinucléarité érythroblastique héréditaire avec test de lyse positif dans un sérum acidifié","SEC23B-CDG"],"definition":"Forme d'anémie dysérythropoïétique congénitale caractérisée par une anémie, un ictère et une splénomégalie, des calculs biliaires et souvent une surcharge en fer."},"de":{"name":"Anämie, dyserythropoetische, kongenitale, Typ II","synonyms":["CDA II","CDA Typ 2","CDA Typ II","Hereditäre erythroblastische Multinuklearität mit positivem Säure-Serumtest (HEMPAS)","Kongenitale dyserythropoetische Anämie Typ 2","SEC23B-CDG"],"definition":"Eine Form der kongenitalen dyserythropoetischen Anämie (CDA), die durch Anämie, Gelbsucht, Splenomegalie, Gallensteine und häufig Eisenüberladung gekennzeichnet ist."},"es":{"name":"Anemia diseritropoyética congénita tipo II","synonyms":["Anemia diseritropoyética congénita tipo 2","CDA II","CDA tipo 2","CDA tipo II","HEMPAS","Multinuclearidad eritroblástica hereditaria con prueba de suero acidificado positiva","SEC23B-CDG"],"definition":"Es una forma de anemia diseritropoyética congénita caracterizada por anemia, ictericia, esplenomegalia, cálculos biliares y, a menudo, sobrecarga de hierro."},"it":{"name":"Anemia diseritropoietica congenita, tipo II","synonyms":["CDA II","CDA, tipo 2","CDA, tipo II","Multinuclearità eritroblastica ereditaria con positività del test del siero acidificato (hempas)","SEC23B-CDG","Sindrome SEC23B-CDG","Anemia diseritropoietica congenita, tipo 2"],"definition":"L'anemia diseritropoietica congenita tipo II (CDA II) è la forma più comune di CDA (si veda questo termine); è caratterizzata da anemia, ittero e splenomegalia. Spesso comporta il sovraccarico di ferro nel fegato e la calcolosi biliare."},"nl":{"name":"Congenitale dyserytropoëtische anemie type II","synonyms":["CDA II","CDA type 2","CDA type II","Congenitale dyserytropoëtische anemie type 2","Hereditaire erytroblastische multinucleariteit met een positieve aangezuurde serumtest (HEMPAS)","SEC23B-CDG"],"definition":"Een vorm van congenitale dyserytropoëtische anemie, gekenmerkt door anemie, geelzucht, splenomegalie, galstenen, en vaak ijzerstapeling."},"pt":{"name":"Anemia diseritropoiética congénita tipo II","synonyms":["Anemia diseritropoiética congénita tipo 2"]},"pl":{"name":"Wrodzona niedokrwistość dyserytopoetyczna typu II","synonyms":["CDA II","CDA typu 2","CDA typu II","SEC23B-CDG","Wrodzona erytroblastyczna wielojąderkowość z dodatnim testem kwasowości (hempas)","Wrodzona niedokrwistość dyserytopoetyczna typu 2"],"definition":"Wrodzona niedokrwistość dyserytropoetyczna typu II jest najczęstszą formą CDA (zobacz te terminy) i charakteryzuje się niedokrwistością, żółtaczką i splenomegalią, często prowadzi do gromadzenia się żelaza w wątrobie i kamieni żółciowych."},"cs":{"name":"Vrozená dyserytropoetická anémie, typ II","synonyms":["CDA II","CDA typ 2","CDA typ II","Vrozená dyserytropoetická anémie, typ 2","SEC23B-CDG","Hereditání erytroblastická dyserytropoéza s pozitivním sérum acidifikačním testem (hempas)"]},"uk":{"name":"Вроджена дизеритропоетична анемія, тип ІІ","synonyms":["CDA II","CDA тип 2","CDA тип II","Вроджена дизеритропоетична анемія 2 типу","Спадкова еритробластична багатоядерність з позитивним тестом на підкислену сироватку крові (гемобластози)","SEC23B-CDG"],"definition":"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones."},"zh":{"name":"先天性红细胞生成障碍性贫血II型","synonyms":["酸化血清试验阳性遗传性红细胞多核（HEMPAS）"],"definition":"先天性红细胞生成不良性贫血II型(CDA II)是CDA最常见的类型，以贫血、黄疸和脾肿大为特征，常导致肝铁超载和胆结石。"},"tr":{"name":"Doğumsal dizeritropoietik anemi tip II","synonyms":["CDA II","CDA tip 2","SEC23B-CDG","CDA tip II","Doğumsal dizeritropoietik anemi tip 2","Pozitif asitleştirilmiş serum testi (hempas) ile seyreden kalıtsal eritroblastik multinükleerlik"]}},"xrefs":[{"source":"OMIM","code":"224100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D64.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A73","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"83815022"},{"source":"MONDO","code":"0009134","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1306589","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2001","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":309526,"name":"Disorder of multiple glycosylation","classifications":[150,156]}],"children":[],"genes":[{"symbol":"SEC23B","name":"SEC23 homolog B, COPII component","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":null,"hgnc":"10702","ensembl":"ENSG00000101310","omim":"610512","loci":["20p11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"20665989[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":377.0,"area":"Europe","status":"Validated","source":"20665989[PMID]"}],"phenotypes":null}