{"orpha":748,"name":"Mendelian susceptibility to mycobacterial diseases","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Idiopathic infection caused by BCG or atypical mycobacteria","MSMD","Mendelian susceptibility to atypical mycobacteria","Mendelian susceptibility to mycobacterial infections"],"definition":"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-748/","orphanet_url":"https://www.orpha.net/en/disease/detail/748","names":{"fr":{"name":"Prédisposition mendélienne aux infections mycobactériennes","synonyms":["Infection idiopathique par le BCG ou les mycobactéries atypiques","MSMD"],"definition":"La prédisposition mendélienne aux infections mycobactériennes (PMIM) décrit un syndrome de déficit immunitaire rare caractérisé par une susceptibilité aux mycobactéries peu virulentes telles que les le bacille de Calmette-Guérin (BCG) et des mycobactéries environnementales (ME), et se caractérise par des infections à répétition sévères, disséminées ou localisées."},"de":{"name":"Suszeptibilität für Mykobakteriosen, familiäre Form","synonyms":["Idiopathische Infektionen durch BCG oder atypische Mykobakterien","MSMD","Mendelsche Anfälligkeit für Erkrankungen durch Mykobakterien"],"definition":"Die monogen vererbte Suszeptibilität für Mykobakteriosen (MSMD) ist ein seltenes Immundefekt-Syndrom mit selektiver Anfälligkeit für wenig virulente Mykobakterien, wie den Bazillus Calmette-Guérin (BCG)-Impfstoffen und Mykobakterien aus der Umwelt (EM). Sie ist gekennzeichnet durch schwere, rezidivierende, disseminierte oder lokal begrenzte Infektionen."},"es":{"name":"Susceptibilidad mendeliana a enfermedades micobacterianas","synonyms":["Infección idiopática por BCG o micobacterias atípicas","MSMD","Susceptibilidad mendeliana a infecciones micobacterianas","Susceptibilidad mendeliana a micobacterias atípicas"],"definition":"La susceptibilidad mendeliana a enfermedades micobacterianas (MSMD) es un síndrome de inmunodeficiencia poco frecuente, caracterizado por una vulnerabilidad específica a micobacterias poco virulentas, como las vacunas del bacilo de Calmette-Guérin (BCG) y micobacterias ambientales (EM), y que se define por infecciones recurrentes graves, tanto diseminadas como localizadas."},"it":{"name":"Suscettibilità mendeliana alle malattie micobatteriche","synonyms":["Infezione idiopatia causata da BCG o micobatteri atipici","MSMD","Suscettibilità mendeliana ai micobatteri atipici","Suscettibilità mendeliana alle infezioni micobatteriche"],"definition":"La suscettibilità mendeliana alle malattie micobatteriche (MSMD) è una sindrome rara da immunodeficienza, caratterizzata da un'accentuata vulnerabilità ai micobatteri poco virulenti, come i vaccini a base di bacillo di Calmette-Guérin (BCG) e i micobatteri ambientali (EM). Si contraddistingue per le gravi infezioni ricorrenti, disseminate o localizzate."},"nl":{"name":"Mendeliaanse gevoeligheid voor mycobacteriële ziekten","synonyms":["Idiopathische infectie veroorzaakt door BCG of atypische mycobacteriën","MSMD","Mendeliaanse gevoeligheid voor atypische mycobacteriën","Mendeliaanse gevoeligheid voor mycobacteriële infecties"],"definition":"Mendeliaanse gevoeligheid voor mycobacteriële ziekten (MSMD) is een zeldzaam immuundeficiëntiesyndroom dat wordt gekarakteriseerd door een specifieke vatbaarheid voor weinig virulente mycobacteriën zoals bacillus Calmette-Guérin (BCG)-vaccins en mycobacteriën uit de omgeving (EM). De ziekte wordt gedefinieerd door ernstige, terugkerende infecties die ofwel verspreid ofwel lokaal zijn."},"pt":{"name":"Suscetibilidade mendeliana a doenças micobacterianas","synonyms":["Infeção idiopática provocada por BCG ou micobactérias atípicas","MSMD","Suscetibilidade mendeliana a infeções micobacterianas","Suscetibilidade mendeliana a micobactérias atípicas"]},"pl":{"name":"Wrażliwość typu Mendla na zakażenie prątkami","synonyms":["Idiopatyczne zakażenie wywołane BCG lub atypowymi prątkami","Mendlowska podatność na atypowe prątki","Mendlowska podatność na zakażenie prątkami","MSMD"]},"cs":{"name":"Mendelovská náchylnost k mykobakteriálnímu onemocnění","synonyms":["MSMD","Mendelovská náchylnost k atypickým mykobakteriím","Mendelovská náchylnost k mykobakteriální infekci","Idiopatická infekce způsobená BCG nebo atypickými mykobakteriemi"]},"uk":{"name":"Менделівська чутливість до мікобактеріальних захворювань","synonyms":["Ідіопатична інфекція, спричинена БЦЖ або атиповими мікобактеріями","Менделівська сприйнятливість до атипових мікобактерій","Сприйнятливість до мікобактеріальних інфекцій, успадкована за менделівським типом","MSMD"],"definition":"Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized."},"zh":{"name":"孟德尔遗传易感分枝杆菌病","synonyms":["BCG或非典型分枝杆菌所致特发性感染"]},"tr":{"name":"Mikobakteriyel hastalıklara Mendel tipi yatkınlık","synonyms":["MSMD","Atipik mikobakterilere Mendel duyarlılığı","Mikobakteriyel enfeksiyonlara Mendel yatkınlığı","BCG veya atipik mikobakterilerin neden olduğu idiyopatik enfeksiyon"]}},"xrefs":[{"source":"MONDO","code":"0019146","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19146","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3266863","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12977","qualifier":"E","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":[{"orpha":319543,"name":"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency","type":"Category"},{"orpha":319535,"name":"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency","type":"Category"},{"orpha":319539,"name":"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency","type":"Category"},{"orpha":319605,"name":"X-linked mendelian susceptibility to mycobacterial diseases","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}