{"orpha":697385,"name":"Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CID-cancer predisposing syndrome due to AIOLOS deficiency","CID-cancer predisposing syndrome due to IKZF3 deficiency","Combined immunodeficiency-cancer predisposing syndrome due to IKAROS family zinc finger 3 deficiency","Combined immunodeficiency-cancer predisposing syndrome due to IKZF3 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-697385/","orphanet_url":"https://www.orpha.net/en/disease/detail/697385","names":{"fr":{"name":"Syndrome de déficit immunitaire combiné-prédisposition aux cancers par déficit en AIOLOS","synonyms":["Syndrome d'immunodéficience combinée-prédisposition aux cancers par déficit en AIOLOS","Syndrome de CID-prédisposition aux cancers par déficit en AIOLOS","Syndrome de DIC-prédisposition aux cancers par déficit en AIOLOS","Syndrome de déficit immunitaire combiné-prédisposition aux cancers par déficit en protéine IKAROS familly zinc finger 3"]},"de":{"name":"Kombinierter Immundefekt mit Krebsprädisposition durch AIOLOS-Defizienz","synonyms":["CID mit Krebsprädispositionssyndrom durch AIOLOS-Mangel","CID mit Krebsprädispositionssyndrom durch IKZF3-Defizienz"]},"es":{"name":"Síndrome de inmunodeficiencia combinada-predisposición al cáncer por deficiencia de AIOLOS","synonyms":["Síndrome de IDC con predisposición al cáncer por deficiencia de AIOLOS","Síndrome de IDC con-predisposición al cáncer por deficiencia de IKZF3","Síndrome de inmunodeficiencia combinada con predisposición al cáncer por deficiencia de IKZF3","Síndrome de inmunodeficiencia combinada con predisposición al cáncer por deficiencia del dedo de zinc 3 de la familia IKAROS"]},"it":{"name":"Sindrome immunodeficienza combinata-predisposizione ai tumori da deficit di AIOLOS","synonyms":["Sindrome CID-predisposizione ai tumori da deficit di AIOLOS","Sindrome CID-predisposizione ai tumori da deficit di IKZF3","Sindrome immunodeficienza combinata-predisposizione ai tumori da deficit del dito di zinco 3 della famiglia IKAROS","Sindrome immunodeficienza combinata-predisposizione ai tumori da deficit di IKZF3"]},"nl":{"name":"Gecombineerde immuundeficiëntie - kankerpredispositiesyndroom door AIOLOS-deficiëntie","synonyms":["CID - kankerpredispositiesyndroom door AIOLOS-deficiëntie","CID - kankerpredispositiesyndroom door IKZF3-deficiëntie","Gecombineerde immuundeficiëntie - kankerpredispositiesyndroom door IKZF3-deficiëntie","Gecombineerde immuundeficiëntie - kankerpredispositiesyndroom door deficiëntie van IKAROS-familie zinkvinger 3"]},"pt":{"name":"Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency"},"pl":{"name":"Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency","synonyms":["CID-cancer predisposing syndrome due to AIOLOS deficiency","CID-cancer predisposing syndrome due to IKZF3 deficiency","Combined immunodeficiency-cancer predisposing syndrome due to IKAROS family zinc finger 3 deficiency","Combined immunodeficiency-cancer predisposing syndrome due to IKZF3 deficiency"]},"cs":{"name":"Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency","synonyms":["CID-cancer predisposing syndrome due to AIOLOS deficiency","CID-cancer predisposing syndrome due to IKZF3 deficiency","Combined immunodeficiency-cancer predisposing syndrome due to IKAROS family zinc finger 3 deficiency","Combined immunodeficiency-cancer predisposing syndrome due to IKZF3 deficiency"]}},"xrefs":[{"source":"OMIM","code":"619437","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":688571,"name":"Combined immunodeficiency with low immunoglobulins and normal B cells","classifications":[156,195,233]},{"orpha":619340,"name":"Inherited hematologic cancer-predisposing syndrome","classifications":[156,202]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]}],"children":[{"orpha":699596,"name":"Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency","type":"Clinical subtype"},{"orpha":699593,"name":"Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"IKZF3","name":"IKAROS family zinc finger 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34155405[PMID]","hgnc":"13178","ensembl":"ENSG00000161405","omim":"606221","loci":["17q12-q21.1"],"via":{"orpha":699593,"name":"Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency"}}],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}