{"orpha":714472,"name":"Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BACH2-related immunodeficiency-autoimmunity syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714472/","orphanet_url":"https://www.orpha.net/en/disease/detail/714472","names":{"fr":{"name":"Syndrome inflammatoire de l'intestin-auto-immunité-infections sinopulmonaires-lymphadénopathie","synonyms":["Syndrome de déficit immunitarie-autoimmunité lié à BACH2"]},"de":{"name":"Inflammatorische Darmerkrankung-Autoimmunität-Sinopulmonale Infektionen-Lymphadenopathie-Syndrom","synonyms":["BRIDA","BACH2-assoziierter Immundefekt und Autoimmunität"]},"es":{"name":"Síndrome de enfermedad inflamatoria intestinal-autoinmunidad-infecciones sinopulmonares-linfadenopatía","synonyms":["Síndrome de inmunodeficiencia-autoinmunidad asociada al gen BACH2"]},"it":{"name":"Sindrome malattia infiammatoria intestinale-autoimmunità-infezioni sinopulmonari-linfoadenopatia","synonyms":["Sindrome immunodeficienza-autoimmunità correlata a BACH2","Immunodeficienza-autoimmunità associate al gene BACH2"]},"nl":{"name":"Inflammatoire darmziekte - auto-immuniteit - sinopulmonale infecties - lymfadenopathie-syndroom","synonyms":["BACH2-gerelateerd immuundeficiëntie - auto-immuniteit-syndroom"]},"pt":{"name":"Inflammatory bowel disease-autoimmunity-sinopulmonary infections- lymphadenopathy syndrome"},"pl":{"name":"Zespół z nieswoistym zapaleniem jelit, autoimmunizacją, zakażeniami zatok i płuc oraz limfadenopatią","synonyms":["BACH2-related immunodeficiency-autoimmunity syndrome"]},"cs":{"name":"Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome","synonyms":["BACH2-related immunodeficiency-autoimmunity syndrome"]}},"xrefs":[{"source":"OMIM","code":"618394","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":169361,"name":"Immune dysregulation disease with immunodeficiency","classifications":[156,195]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"BACH2","name":"BACH transcriptional regulator 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28530713[PMID]","hgnc":"14078","ensembl":"ENSG00000112182","omim":"605394","loci":["6q15"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"28530713[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"28530713[PMID]_ORPHANET"}],"phenotypes":null}