{"orpha":692812,"name":"RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome related to Rac family small GTPase 2","RAC2-related CID"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-692812/","orphanet_url":"https://www.orpha.net/en/disease/detail/692812","names":{"fr":{"name":"Syndrome de bronchectasie-déficit immunitaire combiné-prédisposition aux cancers associé à RAC2","synonyms":["CID liée à RAC2","DIC lié à RAC2","Déficit immunitaire combiné lié à RAC2","Immunodéficience combinée liée à RAC2"]},"de":{"name":"RAC2-assoziierter syndromaler Immundefekt mit Bronchiektasie und Krebs-Prädispositionssyndrom","synonyms":["Kombinierte Immundefizienz-Bronchiektasie-Krebsprädispositionssyndrom in Assoziation mit der kleinen GTPase 2 der Rac-Familie","Kombinierter Immundefekt durch RAC2-Defekt"]},"es":{"name":"Síndrome de inmunodeficiencia combinada-bronquiectasias-predisposición al cáncer asociado a RAC2","synonyms":["IDC relacionada con RAC2","Síndrome de inmunodeficiencia combinada-bronquiectasias-predisposición al cáncer asociado a la GTPasa 2 pequeña de la familia Rac"]},"it":{"name":"Combined immunodeficiency-bronchiectasis-cancer predisposing syndrome"},"nl":{"name":"RAC2-gerelateerd gecombineerde immuundeficiëntie - bronchiëctasie - kankerpredispositie-syndroom","synonyms":["Gecombineerde immuundeficiëntie - bronchiëctasie - kankerpredispositie-syndroom gerelateerd aan Rac-familie klein GTPase 2","RAC2-gerelateerde CID"]},"pt":{"name":"Síndrome de imunodeficiência combinada-bronquiectasia-predisposição para o cancro RAC2-relacionada","synonyms":["CID RAC2-relacionado","Síndrome de imunodeficiência combinada-bronquiectasia-predisposição para o cancro relacionada com a GTPase 2 pequena da família Rac"]},"pl":{"name":"Złożony zespół niedoboru odporności, rozstrzenii oskrzeli i predyspozycji do nowotworów związany z RAC2","synonyms":["Combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome related to Rac family small GTPase 2","RAC2-related CID"]},"cs":{"name":"Syndrom zahrnující kombinovanou imunodeficienci, bronchiektázii a predispozici k rakovině","synonyms":["Combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome related to Rac family small GTPase 2","RAC2-related CID"]}},"xrefs":[{"source":"OMIM","code":"618986","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618987","qualifier":"BTNT","icd_relation":null,"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":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":506222,"name":"Rare disorder potentially indicated for lung transplant","classifications":[233]},{"orpha":156610,"name":"Rare genetic respiratory disease","classifications":[156]},{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]}],"children":[],"genes":[{"symbol":"RAC2","name":"Rac family small GTPase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38410820[PMID]","hgnc":"9802","ensembl":"ENSG00000128340","omim":"602049","loci":["22q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":37.0,"area":"Worldwide","status":"Validated","source":"35596857[PMID]_25512081[PMID]_38194689[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"35596857[PMID]_25512081[PMID]_38194689[PMID]_ORPHANET"}],"phenotypes":null}