{"orpha":98870,"name":"Congenital dyserythropoietic anemia type III","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDA III","CDA type 3","CDA type III","Congenital dyserythropoietic anemia type 3"],"definition":"A rare form of congenital dyserythropoietic anemia (CDA) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98870/","orphanet_url":"https://www.orpha.net/en/disease/detail/98870","names":{"fr":{"name":"Anémie dysérythropoïétique congénitale type III","synonyms":["Anémie dysérythropoïétique congénitale type 3","CDA III","CDA type 3","CDA type III"],"definition":"Forme rare d'anémie dysérythropoïétique congénitale (CDA pour congenital dyserythropoietic anemia), caractérisée par une dyserythropoïèse, avec de gros érythroblastes multinucléés dans la moelle osseuse, et se manifestant par une anémie légère à modérée."},"de":{"name":"Anämie, dyserythropoetische, kongenitale, Typ III","synonyms":["CDA III","CDA Typ 3","CDA Typ III","Kongenitale dyserythropoetische Anämie Typ 3"],"definition":"Eine seltene Form der kongenitalen dyserythropoetischen Anämie (CDA), die durch eine Dyserythropoese mit großen vielkernigen Erythroblasten im Knochenmark gekennzeichnet ist und sich in einer leichten bis mittelschweren Anämie manifestiert."},"es":{"name":"Anemia diseritropoyética congénita tipo III","synonyms":["Anemia diseritropoyética congénita tipo 3","CDA III","CDA tipo 3","CDA tipo III"],"definition":"Es una forma poco frecuente de anemia diseritropoyética congénita (ADC) caracterizada por diseritropoyesis, con grandes eritroblastos multinucleados en la médula ósea y que se manifiesta con anemia de leve a moderada."},"it":{"name":"Anemia diseritropoietica congenita, tipo III","synonyms":["Anemia diseritropoietica congenita, tipo 3","CDA III","CDA, tipo 3","CDA, tipo III"],"definition":"L'anemia diseritropoietica congenita tipo III (CDA III) è una rara forma di CDA (si veda questo termine) caratterizzata da diseritropoiesi con grandi eritroblasti multinucleati nel midollo osseo; si manifesta con anemia lieve-moderata."},"nl":{"name":"Congenitale dyserytropoëtische anemie type III","synonyms":["CDA III","CDA type 3","CDA type III","Congenitale dyserytropoëtische anemie type 3"],"definition":"Een zeldzame vorm van congenitale dyserytropoëtische anemie (CDA), gekenmerkt door dyserytropoëse, met grote meerkernige erytroblasten in beenmerg, en met milde tot matige anemie als manifestatie."},"pt":{"name":"Anemia diseritropoiética congénita tipo III","synonyms":["Anemia diseritropoiética congénita tipo 3","CDA 3","CDA III","CDA tipo III"],"definition":"Forma rara de anemia diseritropoiética congénita (ADC) caracterizada por diseritropoiese, com grandes eritroblastos multinucleados na medula óssea e manifestando-se com anemia ligeira a moderada."},"pl":{"name":"Wrodzona niedokrwistość dyserytopoetyczna typu III","synonyms":["CDA III","CDA typu 3","CDA typu III","Wrodzona niedokrwistość dyserytopoetyczna typu 3"],"definition":"Wrodzona niedokrwistość dyserytropoetyczna typu III (CDA III) jest rzadką formą CDA (zobacz ten termin) i charakteryzuje się zaburzeniem erytropoezy, obecnością w szpiku kostnym olbrzymich wielojądrzastych erytroblastów i objawami lekkiej do umiarkowanej niedokrwistości."},"cs":{"name":"Vrozená dyserytropoetická anémie, typ III","synonyms":["CDA III","CDA typ 3","CDA typ III","Vrozená dyserytropoetická anémie, typ 3"]},"uk":{"name":"Вроджена дизеритропоетична анемія, тип III","synonyms":["CDA III","CDA тип 3","CDA тип III","Вроджена дизеритропоетична анемія типу 3"],"definition":"A rare form of congenital dyserythropoietic anemia (CDA) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia."},"zh":{"name":"先天性红细胞生成障碍性贫血III型","synonyms":["先天性红细胞生成障碍性贫血3型"],"definition":"先天性红细胞生成障碍贫血III(CDA III)是一种罕见的CDA(见该词条)，其特征是红细胞生成异常，骨髓中有大的多核红细胞，表现为轻至中度贫血。"},"tr":{"name":"Doğumsal dizeritropoietik anemi tip III","synonyms":["CDA III","CDA tip 3","CDA tip III","Doğumsal dizeritropoietik anemi tip 3"]}},"xrefs":[{"source":"OMIM","code":"105600","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":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A73","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1548454380"},{"source":"MONDO","code":"0007109","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271934","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2002","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":"KIF23","name":"kinesin family member 23","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23570799[PMID]","hgnc":"6392","ensembl":"ENSG00000137807","omim":"605064","loci":["15q23"]},{"symbol":"RACGAP1","name":"Rac GTPase activating protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9804","ensembl":"ENSG00000161800","omim":"604980","loci":["12q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"23570799[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23570799[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-08","source":"14886400[PMID]_13867810[PMID]_4432872[PMID]","terms":[{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011273","label":"Anisocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004447","label":"Poikilocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025354","label":"Abnormal cellular phenotype","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025035","label":"Abnormal proerythroblast morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012130","label":"Abnormality of cells of the erythroid lineage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002904","label":"Hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003452","label":"Increased circulating iron concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005518","label":"Increased mean corpuscular volume","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025196","label":"Increased total iron binding capacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001877","label":"Abnormal erythrocyte morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002249","label":"Melena","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030140","label":"Oral cavity bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011891","label":"Post-partum hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very rare (<4-1%)","criteria":null}]}}