{"orpha":319595,"name":"Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MSMD due to partial STAT1 deficiency","MSMD due to partial signal transducer and activator of transcription 1 deficiency","Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency"],"definition":"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319595/","orphanet_url":"https://www.orpha.net/en/disease/detail/319595","names":{"fr":{"name":"Prédisposition mendélienne aux infections mycobactériennes par déficit partiel en STAT1","synonyms":["MSMD par déficit partiel en STAT1"],"definition":"La prédisposition mendélienne aux infections mycobactériennes (PMIM) par déficit partiel en STAT1 (transducteur de signal et de l'activateur de transcription 1) est une variante génétique de la PMIM caractérisée par un défaut partiel de la voie de l'interféron (IFN)-gamma, provoquant des infections mycobactériennes modérées."},"de":{"name":"Suszeptibilität für Mykobakteriosen durch partielle STAT1-Defizienz","synonyms":["Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei partiellem STAT1-Mangel","MSMD durch partiellen STAT1-Defekt"],"definition":"Die autosomal-dominant vererbte (AD) Anfälligkeit für Krankheiten durch Mykobakterien (MSMD) aufgrund eines teilweisen STAT1 (<i>signal transducer and activator of transcription 1</i>)-Mangels ist eine genetische Variante des MSMD (siehe dort) mit teilweisen Defekt im Interferon (IFN)-gamma-Signalweg, was zu milden mykobakteriellen Infektionen führt."},"es":{"name":"Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia parcial del STAT1","synonyms":["MSMD por deficiencia parcial del STAT1","MSMD por deficiencia parcial del transductor de señal y activador de transcripción 1"],"definition":"La susceptibilidad mendeliana a enfermedades micobacterianas (MSMD) por déficit parcial del STAT1 (transductor de señal y activador de la transcripción 1) es una variante genética de la MSMD (consulte este término), que se caracteriza por un defecto parcial en la vía del interferón (IFN)-gamma, que provoca infecciones micobacterianas leves."},"it":{"name":"Suscettibilità mendeliana a malattie micobatteriche da deficit parziale di STAT1","synonyms":["Suscettibilità mendeliana a micobatteriosi da deficit parziale del trasduttore e attivatore del segnale di trascrizione 1"],"definition":"La suscettibilità mendeliana alle malattie micobatteriche (MSMD) da deficit parziale di STAT1 (trasduttore e attivatore del segnale di trascrizione 1) è una variante genetica della MSMD (si veda questo termine), caratterizzata da un deficit parziale della via dell'(IFN)-gamma, che provoca lievi infezioni micobatteriche."},"nl":{"name":"Mendeliaanse gevoeligheid voor mycobacteriële ziekten door partiële STAT1-deficiëntie","synonyms":["MDMD door partiële deficiëntie van signaaltransductor en -activator van transcriptie 1","MSMD door partiële STAT1-deficiëntie","Mendeliaanse gevoeligheid voor mycobacteriële ziekten door partiële deficiëntie van signaaltransductor en -activator van transcriptie 1"],"definition":"Mendeliaanse gevoeligheid voor mycobacteriële ziekten (MSMD) door partiële STAT1 (signaaltransductor en -activator van transcriptie 1)-deficiëntie is een genetische variant van MSMD (zie deze term) die wordt gekarakteriseerd door een partieel defect in de interferon (IFN)-gamma signaalweg, met milde mycobacteriële infecties tot gevolg."},"pt":{"name":"Suscetibilidade mendeliana a doenças micobacterianas por deficiência parcial de STAT1"},"pl":{"name":"Mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru STAT1","synonyms":["Mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru przekaźnika sygnału i aktywatora transkrypcji 1","MSMD z powodu częściowego niedoboru przekaźnika sygnału i aktywatora transkrypcji 1","MSMD z powodu częściowego niedoboru STAT1"]},"cs":{"name":"Genetická vnímavost k mykobakteriální infekci způsobená částečným STAT1 deficitem","synonyms":["MSMD způsobená částečným STAT1 deficitem","MSMD způsobená částečným deficitem signálního transduktoru a aktivátoru transkripce 1","Genetická vnímavost k mykobakteriální infekci způsobená částečným deficitem signálního transduktoru a aktivátoru transkripce 1"]},"uk":{"name":"Менделевська схильність до мікобактеріальних захворювань внаслідок часткового дефіциту STAT1","synonyms":["Менделевська схильність до мікобактеріальних захворювань внаслідок часткової недостатності трансдуктора сигналу та активатора транскрипції 1","MSMD внаслідок часткової недостатності трансдуктора сигналу та активатора транскрипції 1","MSMD внаслідок часткового дефіциту STAT1"],"definition":"Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial STAT1 (signal transducer and activator of transcription 1) deficiency is a genetic variant of MSMD (see this term) characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections."},"zh":{"name":"STAT1基因部分缺陷所致孟德尔遗传易感分枝杆菌病","synonyms":["STAT1基因部分缺陷所致MSMD"],"definition":"STAT1(信号转导子和转录激活子1)部分缺失所致孟德尔遗传易感分枝杆菌病(MSMD)是MSMD的一种遗传变异体(见本术语)，其特征是干扰素(IFN)-γ途径的部分缺陷，导致轻度分枝杆菌感染。"},"tr":{"name":"Kısmi STAT1 eksikliğine bağlı mikobakteriyel hastalıklara Mendel tipi yatkınlık","synonyms":["Kısmi sinyal dönüştürücü ve transkripsiyon 1 eksikliğinin aktivatörü nedeniyle MSMD","Kısmi sinyal dönüştürücü ve transkripsiyon 1 aktivatörü eksikliğine bağlı mikobakteriyel hastalıklara Mendelian duyarlılığı","Kısmi STAT1 eksikliğine bağlı MSMD"]}},"xrefs":[{"source":"OMIM","code":"614892","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2037189455"},{"source":"MONDO","code":"0013956","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509855","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":319543,"name":"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"STAT1","name":"signal transducer and activator of transcription 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11362","ensembl":"ENSG00000115415","omim":"600555","loci":["2q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"25453225[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25453225[PMID]"}],"phenotypes":null}