{"orpha":714423,"name":"Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714423/","orphanet_url":"https://www.orpha.net/en/disease/detail/714423","names":{"fr":{"name":"Syndrome inflammatoire de l'intestin-surdité-infections récurrentes à début infantile"},"de":{"name":"Sehr früh einsetzende entzündliche Darmerkrankung mit Hörverlust und Immundefekt","synonyms":["VEOIBD mit Schwerhörigkeit und rekurrenten Infektionen"]},"es":{"name":"Síndrome de enfermedad inflamatoria intestinal-hipoacusia-infecciones recurrentes de inicio infantil"},"it":{"name":"Sindrome malattia infiammatoria dell’intestino ad esordio infantile-sordità-infezioni ricorrenti"},"nl":{"name":"Infantiel optredend inflammatoire darmziekte - gehoorverlies - recidiverende infecties-syndroom","synonyms":["Inflammatoire darmziekte - gehoorverlies - recidiverende infecties-syndroom beginnend op zuigelingenleeftijd"]},"pt":{"name":"Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome"},"pl":{"name":"Zespół z nieswoistym zapaleniem jelit o początku w wieku niemowlęcym, niedosłuchem i nawracającymi zakażeniami"},"cs":{"name":"Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome"}},"xrefs":[{"source":"ICD-10","code":"K52.8","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]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"STXBP3","name":"syntaxin binding protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33891011[PMID]","hgnc":"11446","ensembl":"ENSG00000116266","omim":"608339","loci":["1p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"33891011[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"33891011[PMID]_ORPHANET"}],"phenotypes":null}