{"orpha":98869,"name":"Congenital dyserythropoietic anemia type I","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDA I","CDA type 1","CDA type I","Congenital dyserythropoietic anemia type 1"],"definition":"A form of congenital dyserythropoietic anemia (CDA) characterized by moderate to severe anemia, often macrocytic, occasionally associated with congenital malformations, primarily affecting the distal extremities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98869/","orphanet_url":"https://www.orpha.net/en/disease/detail/98869","names":{"fr":{"name":"Anémie dysérythropoïétique congénitale type I","synonyms":["Anémie dysérythropoïétique congénitale type 1","CDA I","CDA type 1","CDA type I"],"definition":"Forme d'anémie dysérythropoïétique congénitale (CDA pour congenital dyserythropoietic anemia) caractérisée par une anémie modérée à sévère, souvent macrocytaire, parfois associée à des malformations congénitales, touchant principalement les extrémités distales."},"de":{"name":"Anämie, dyserythropoetische, kongenitale, Typ I","synonyms":["CDA I","CDA Typ 1","CDA Typ I","Kongenitale dyserythropoetische Anämie Typ 1"],"definition":"Eine Form der kongenitalen dyserythropoetischen Anämie (CDA), die durch eine mäßige bis schwere, oft makrozytäre Anämie gekennzeichnet ist, die gelegentlich mit kongenitalen Fehlbildungen einhergeht und hauptsächlich die distalen Extremitäten betrifft."},"es":{"name":"Anemia diseritropoyética congénita tipo I","synonyms":["Anemia diseritropoyética congénita tipo 1","CDA I","CDA tipo 1","CDA tipo I"],"definition":"Es una forma de anemia diseritropoyética congénita (ADC), caracterizada por una anemia de moderada a grave, habitualmente macrocítica, y ocasionalmente asociada a malformaciones congénitas que afectan principalmente las extremidades distales."},"it":{"name":"Anemia diseritropoietica congenita, tipo I","synonyms":["Anemia diseritropoietica congenita, tipo 1","CDA, tipo 1","CDA, tipo I","CDAI"],"definition":"L'anemia diseritropoietica congenita tipo I (CDA I) è una patologia dell'eritropoiesi caratterizzata da anemia macrocitica moderata-grave, associata raramente a deformità degli arti o delle unghie e scoliosi."},"nl":{"name":"Congenitale dyserytropoëtische anemie type I","synonyms":["CDA I","CDA type 1","CDA type I","Congenitale dyserytropoëtische anemie type 1"],"definition":"Een vorm van congenitale dyserytropoëtische anemie (CDA), gekenmerkt door matige tot ernstige anemie, vaak macrocytair, soms geassocieerd met congenitale malformaties die vooral de distale extremiteiten aantasten."},"pt":{"name":"Anemia diseritropoiética congénita tipo I","synonyms":["Anemia diseritropoiética congénita tipo I","CDA I","CDA tipo1","CDA tipoI"]},"pl":{"name":"Wrodzona niedokrwistość dyserytopoetyczna typu I","synonyms":["CDA I","CDA typu 1","CDA typu I","Wrodzona niedokrwistość dyserytopoetyczna typu 1"],"definition":"Wrodzona niedokrwistość dyserytropoetyczna typu I (CDA I) jest hematologiczną chorobą erytropoezy, która charakteryzuje się umiarkowaną do ciężkiej niedokrwistością makrocytarną, niekiedy współistniejącą z wadami kończyn albo deformacją paznokci i skoliozą."},"cs":{"name":"Vrozená dyserytropoetická anémie, typ I","synonyms":["CDA I","CDA typ 1","CDA typ I","Vrozená dyserytropoetická anémie, typ 1"]},"uk":{"name":"Вроджена дизеритропоетична анемія, тип I","synonyms":["CDA I","CDA тип 1","CDA тип I","Вроджена дизеритропоетична анемія типу 1"],"definition":"Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis."},"zh":{"name":"先天性红细胞生成障碍性贫血I型","synonyms":["先天性红细胞生成障碍性贫血1型"],"definition":"先天性红细胞生成障碍贫血I型(CDA I)是一种以中、重度大细胞性贫血为特征的血液学疾病，偶尔伴有四肢或指甲畸形、脊柱侧凸。"},"tr":{"name":"Doğumsal dizeritropoietik anemi tip I","synonyms":["CDA I","CDA tip 1","CDA tip I","Doğumsal dizeritropoietik anemi tip 1"]}},"xrefs":[{"source":"OMIM","code":"224120","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"615631","qualifier":"BTNT","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":"148842514"},{"source":"MONDO","code":"0020337","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271933","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2000","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]}],"children":[],"genes":[{"symbol":"CDAN1","name":"codanin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"1713","ensembl":"ENSG00000140326","omim":"607465","loci":["15q15.2"]},{"symbol":"CDIN1","name":"CDAN1 interacting nuclease 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23716552[PMID]","hgnc":"26929","ensembl":"ENSG00000186073","omim":"615626","loci":["15q14"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"20665989[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Worldwide","status":"Validated","source":"32518175[PMID]_ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"30836435[PMID]"}],"phenotypes":null}