{"orpha":699615,"name":"Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Severe MSMD due to complete IRF1 deficiency","Severe mendelian susceptibility to mycobacterial diseases due to complete interferon regulatory factor 1 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-699615/","orphanet_url":"https://www.orpha.net/en/disease/detail/699615","names":{"fr":{"name":"Sévère prédisposition mendélienne aux infections mycobactériennes par déficit complet en IRF1","synonyms":["SSMIM sévère par déficit complet en IRF1","Syndrome de susceptibilité mendélienne aux infections mycobactériennes sévère par déficit complet en IRF1","Sévère prédisposition mendélienne aux infections mycobactériennes par déficit complet en protéine interferon regulatory factor 1"]},"de":{"name":"Suszeptibilität für Mykobakteriosen durch kompletten IRF1-Mangel","synonyms":["Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei vollständigem Mangel an Interferon-regulierendem Faktor 1","Schwere MSMD durch vollständige IRF1-Defizienz"]},"es":{"name":"Susceptibilidad mendeliana grave a enfermedades micobacterianas por deficiencia completa de IRF1","synonyms":["SMEM grave por deficiencia completa de IRF1","Susceptibilidad mendeliana grave a enfermedades micobacterianas por deficiencia completa del factor regulador del interferón 1"]},"it":{"name":"Grave predisposizione mendeliana alle malattie micobatteriche da deficit completo di IRF1","synonyms":["Grave predisposizione mendeliana alle malattie micobatteriche da deficit completo del fattore 1 di regolazione dell'interferone","MSMD grave da deficit completo di IRF1"]},"nl":{"name":"Ernstige Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige IRF1-deficiëntie","synonyms":["Ernstige MSMD door volledige IRF1-deficiëntie","Ernstige Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige deficiëntie van interferon regulatorische factor 1"]},"pt":{"name":"Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency"},"pl":{"name":"Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency","synonyms":["Severe MSMD due to complete IRF1 deficiency","Severe mendelian susceptibility to mycobacterial diseases due to complete interferon regulatory factor 1 deficiency"]},"cs":{"name":"Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency","synonyms":["Severe MSMD due to complete IRF1 deficiency","Severe mendelian susceptibility to mycobacterial diseases due to complete interferon regulatory factor 1 deficiency"]}},"xrefs":[{"source":"OMIM","code":"620668","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"4A00.2","qualifier":"NTBT","icd_relation":"attributed","validated":false}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":319535,"name":"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"IRF1","name":"interferon regulatory factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36736301[PMID]","hgnc":"6116","ensembl":"ENSG00000125347","omim":"147575","loci":["5q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}