{"orpha":726479,"name":"Genetic predisposition to Whipple disease due to IRF4 haploinsufficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Genetic susceptibility to Tropheryma whipplei infections due to IRF4 haploinsufficiency","Genetic predisposition to Whipple disease due to Interferon regulatory factor 4 haploinsufficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-726479/","orphanet_url":"https://www.orpha.net/en/disease/detail/726479","names":{"fr":{"name":"Prédisposition génétique à la maladie de Whipple par haploinsuffisance en IRF4","synonyms":["Susceptibilité génétique à une infection par Tropheryma whipplei par haploinsuffisance en IRF4","Prédisposition génétique à la maladie de Whipple par haploinsuffisance en protéine Interferon regulatory factor 4"]},"de":{"name":"Genetische Prädisposition für Morbus Whipple durch IRF4-Haploinsuffizienz","synonyms":["Suszeptibilität für Tropheryma whipplei-Infektionen durch IRF4-Haploinsuffizienz"]},"es":{"name":"Predisposición genética a la enfermedad de Whipple por haploinsuficiencia del gen IRF4","synonyms":["Predisposición genética a la enfermedad de Whipple por haploinsuficiencia del factor regulador del interferón 4","Susceptibilidad genética a las infecciones por Tropheryma whipplei por haploinsuficiencia del gen IRF4"]},"it":{"name":"Predisposizione genetica alla malattia di Whipple da aploinsufficienza di IRF4","synonyms":["Suscettibilità genetica alle infezioni di Tropheryma whipplei da aploinsufficienza di IRF4","Suscettibilità genetica alla malattia di Whipple da aploinsufficienza del fattore 4 di regolazione dell'interferone"]},"nl":{"name":"Genetische predispositie voor ziekte van Whipple door IRF4-haploinsufficiëntie","synonyms":["Genetische predispositie voor infectie door Tropheryma whipplei door IRF4-haploinsufficiëntie","Genetische predispositie voor ziekte van Whipple door haploinsufficiëntie van 'interferon regulatory factor 4'","Genetische predispositie voor ziekte van Whipple door haploinsufficiëntie van interferonregulerende factor 4"]},"pt":{"name":"Genetic predisposition to Whipple disease due to IRF4 haploinsufficiency"},"pl":{"name":"Genetic predisposition to Whipple disease due to IRF4 haploinsufficiency","synonyms":["Genetic susceptibility to Tropheryma whipplei infections due to IRF4 haploinsufficiency","Genetic predisposition to Whipple disease due to Interferon regulatory factor 4 haploinsufficiency"]},"cs":{"name":"Genetic predisposition to Whipple disease due to IRF4 haploinsufficiency","synonyms":["Genetic susceptibility to Tropheryma whipplei infections due to IRF4 haploinsufficiency","Genetic predisposition to Whipple disease due to Interferon regulatory factor 4 haploinsufficiency"]}},"xrefs":[{"source":"OMIM","code":"621097","qualifier":"NTBT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183710,"name":"Genetic susceptibility to infections due to particular pathogens","classifications":[156,195]}],"children":[],"genes":[{"symbol":"IRF4","name":"interferon regulatory factor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29537367[PMID]_36917008[PMID]","hgnc":"6119","ensembl":"ENSG00000137265","omim":"601900","loci":["6p25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"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}