{"orpha":727394,"name":"Autosomal recessive KLF1-related severe anemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital dyserythropoietic anemia type IVb","Congenital dyserythropoietic anemia type 4b","CDA type IVb","CDA type 4b"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-727394/","orphanet_url":"https://www.orpha.net/en/disease/detail/727394","names":{"fr":{"name":"Anémie sévère autosomique récessive associée à KLF1","synonyms":["Anémie dysérythropoïétique congénitale type IVb","Anémie dysérythropoïétique congénitale type 4b","CDA type IVb","CDA type 4b"]},"de":{"name":"KLF1-assoziierte schwere Anämie, autosomal-rezessive","synonyms":["CDA Typ 4b","CDA Typ IVb","Kongenitale dyserythropoetische Anämie Typ 4b","Anämie, dyserythropoetische, kongenitale, Typ IVb"]},"es":{"name":"Anemia grave autosómica recesiva asociada al gen KLF1","synonyms":["ADC tipo 4b","ADC tipo IVb","Anemia diseritropoyética congénita tipo 4b","Anemia diseritropoyética congénita tipo IVb"]},"it":{"name":"Anemia grave autosomica recessiva correlata a KLF1","synonyms":["Anemia diseritropoietica congenita tipo 4b","Anemia diseritropoietica congenita tipo IVb","CDA tipo 4b","CDA tipo IVb"]},"nl":{"name":"Autosomaal recessieve KLF1-gerelateerde ernstige anemie","synonyms":["CDA type 4b","CDA type IVb","Congenitale dyserytropoëtische anemie type 4b","Congenitale dyserytropoëtische anemie type Ivb"]},"pt":{"name":"Autosomal recessive KLF1-related severe anemia"},"pl":{"name":"Autosomal recessive KLF1-related severe anemia","synonyms":["Congenital dyserythropoietic anemia type IVb","Congenital dyserythropoietic anemia type 4b","CDA type IVb","CDA type 4b"]},"cs":{"name":"Autosomal recessive KLF1-related severe anemia","synonyms":["Congenital dyserythropoietic anemia type IVb","Congenital dyserythropoietic anemia type 4b","CDA type IVb","CDA type 4b"]}},"xrefs":[{"source":"OMIM","code":"620969","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":182043,"name":"Rare constitutional hemolytic anemia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"KLF1","name":"KLF transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24443441[PMID]","hgnc":"6345","ensembl":"ENSG00000105610","omim":"600599","loci":["19p13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"34554218[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"34554218[PMID]_ORPHANET"}],"phenotypes":null}