{"orpha":319543,"name":"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Autosomal dominant MSMD due to a partial deficiency"],"definition":"A group of variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319543/","orphanet_url":"https://www.orpha.net/en/disease/detail/319543","names":{"fr":{"name":"Prédisposition mendélienne autosomique dominante aux infections mycobactériennes par déficit partiel","definition":"La prédisposition mendélienne autosomique dominante (AD) aux infections mycobactériennes (PMIM) par déficit partiel décrit un groupe de variantes de la PMIM dues à des déficits dominants partiels en interféron gamma (IFN-gammaR1), IFN-gammaR2, transducteur de signal et activateur de transcription 1 (STAT1) ou facteur 8 régulateur de l'interféron (IFR8)."},"de":{"name":"Autosomal-dominante Suszeptibilität für Mykobakteriosen durch partiellen Defekt","synonyms":["Autosomal-dominante MSMD durch partiellen Defekt","Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei partiellem Mangel, autosomal-dominant"],"definition":"Die autosomal-dominante (AD) Suszeptibilität für Mykobakteriosen (MSMD) durch pertiellen Defekt beschreibt eine Gruppe genetischer Varianten der MSMD (siehe dort) mit dominant vererbtem partiellen Defekt der Interferon-gamma-Rezeptoren 1 (IFN-gammaR1) und 2, des Signalgebers und Aktivators der Transkription 1 (STAT1) oder des Interferon-Regulator-Faktors 8 (IRF8) (siehe jeweils dort)."},"es":{"name":"Susceptibilidad mendeliana autosómica dominante a enfermedades micobacterianas por deficiencia parcial","synonyms":["MSMD autosómica dominante por un deficiencia parcial"],"definition":"Es un grupo de variantes de la susceptibilidad mendeliana a enfermedades micobacterianas (MSMD) por déficits parciales heredados de forma dominante del receptor 1 del interferón gamma (IFN-gammaR1), el transductor de señal y activador de la transcripción 1 (STAT1) o el factor regulador de interferón 8 (IRF8)."},"it":{"name":"Suscettibilità mendeliana autosomica dominante a malattie micobatteriche da deficit parziale","synonyms":["MSMD autosomica dominante da deficit parziale"],"definition":"La suscettibilità mendeliana autosomica dominante (AD) alle malattie micobatteriche (MSMD) da deficit parziale definisce un gruppo di varianti della MSMD (si veda questo termine), dovute a deficit parziali, a trasmissione dominante, del recettore dell'interferone gamma 1 (IFN-gammaR1), di IFN-gammaR2, di STAT1 (Signal Transducer and Activator of Transcription 1), o del fattore regolatore dell'interferone 8 (IRF8) (si vedano questi termini)."},"nl":{"name":"Autosomaal dominante mendeliaanse gevoeligheid voor mycobacteriële ziekten door een partiële deficiëntie","synonyms":["Autosomaal dominante MSMD door een partiële deficiëntie"],"definition":"Een groep van varianten van mendeliaanse gevoeligheid voor mycobacteriële ziekten (MSMD) als gevolg van dominant overgeërfde partiële deficiënties in interferon gamma receptor-1 (IFNgammaR1), IFNgammaR2, signaaltransductor en -activator van transcriptie 1 (STAT1) of interferon-regulerende factor 8 (IRF8)."},"pt":{"name":"Suscetibilidade mendeliana autossómica dominante a doenças micobacterianas por deficiência parcial"},"pl":{"name":"Autosomalna dominująca mendlowska podatność na choroby mykobakteryjne z powodu częściowego niedoboru","synonyms":["Autosomalna dominująca MSMD z powodu częściowego niedoboru"]},"cs":{"name":"Autozomálně dominantní genetická vnímavost k mykobakteriální infekci způsobená částečným deficitem","synonyms":["Autozomálně dominantní MSMD způsobená částečným deficitem"]},"uk":{"name":"Аутосомно-домінантна менделівська схильність до мікобактеріальних захворювань внаслідок часткового дефіциту","synonyms":["Аутосомно-домінантна MSMD внаслідок часткового дефіциту"],"definition":"A group of variants of mendelian susceptibility to mycobacterial diseases (MSMD) due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8)."},"zh":{"name":"部分缺陷所致孟德尔常染色体显性遗传易感分枝杆菌病","synonyms":["部分缺陷所致常染色体显性遗传MSMD"],"definition":"一组孟德尔遗传易感分枝杆菌病(MSMD)的变异体，由干扰素γ受体1(IFN-γR 1)、IFN-γR 2、信号转导子和转录激活子1 (STAT1)或干扰素调节因子8 (IRF8)的显性遗传性部分缺陷导致。"},"tr":{"name":"Kısmi bir eksikliğe bağlı olarak mikobakteriyel hastalıklara otozomal dominant Mendel tipi yatkınlık","synonyms":["Kısmi eksikliğe bağlı otozomal dominant MSMD"]}},"xrefs":[{"source":"MONDO","code":"17899","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679889","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":748,"name":"Mendelian susceptibility to mycobacterial diseases","classifications":[156,195]}],"children":[{"orpha":319581,"name":"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency","type":"Disease"},{"orpha":319589,"name":"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency","type":"Disease"},{"orpha":319600,"name":"Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency","type":"Disease"},{"orpha":319595,"name":"Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}