{"orpha":319563,"name":"Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MSMD due to complete ISG15 deficiency"],"definition":"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-Guérin (BCG) infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-319563/","orphanet_url":"https://www.orpha.net/en/disease/detail/319563","names":{"fr":{"name":"Prédisposition mendélienne aux infections mycobactériennes par déficit complet en ISG15","synonyms":["MSMD par déficit complet en ISG15"],"definition":"La prédisposition mendélienne aux infections mycobactériennes (PMIM) par déficit complet en ISG15 est une variante génétique de la PMIM caractérisée par des infections au bacille de Calmette-Guérin (BCG)."},"de":{"name":"Suszeptibilität für Mykobakteriosen durch kompletten ISG15-Defekt","synonyms":["MSMD durch kompletten ISG15-Defekt","Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei vollständigem ISG15-Mangel"],"definition":"Die Suszeptibilität für Mykobakteriosen (MSMD) durch vollständigen ISG15-Mangel ist eine genetische Variante des MSMD (siehe dort) mit Infektionen durch Bazillus Calmette-Guérin (BCG)."},"es":{"name":"Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa del ISG15","synonyms":["MSMD por deficiencia completa del ISG15"],"definition":"La susceptibilidad mendeliana a enfermedades micobacterianas (MSMD) por déficit completo del ISG15 es una variante genética de la MSMD (consulte este término), que se caracteriza por infecciones del bacilo Calmette-Guérin (BCG)."},"it":{"name":"Suscettibilità mendeliana a malattie micobatteriche da deficit completo di ISG15","synonyms":["MSMD da deficit completo di ISG15"],"definition":"La suscettibilità mendeliana alle malattie micobatteriche (MSMD) da deficit completo di ISG15 è una variante genetica della MSMD (si veda questo termine), caratterizzata da infezioni causate dal bacillo di Calmette-Guérin (BCG)."},"nl":{"name":"Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige ISG15-deficiëntie","synonyms":["MSMD door volledige ISG15-deficiëntie"],"definition":"Mendeliaanse gevoeligheid voor mycobacteriële ziekten (MSMD) door volledige ISG15-deficiëntie is een genetische variant van MSMD (zie deze term) die wordt gekarakteriseerd door infecties met bacillus Calmette-Guérin (BCG)."},"pt":{"name":"Suscetibilidade mendeliana a doenças micobacterianas por deficiência completa de ISG15"},"pl":{"name":"Mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru ISG15","synonyms":["MSMD z powodu całkowitego niedoboru ISG15"]},"cs":{"name":"Genetická vnímavost k mykobakteriální infekci způsobená kompletním ISG15 deficitem","synonyms":["MSMD způsobená kompletním ISG15 deficitem"]},"uk":{"name":"Менделевська схильність до мікобактеріальних захворювань внаслідок повного дефіциту ISG15","synonyms":["MSMD внаслідок повної недостатності ISG15"],"definition":"Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD (see this term) characterized by Bacille Calmette-Guérin (BCG) infections."},"zh":{"name":"ISG15基因完全缺陷所致孟德尔遗传易感分枝杆菌病","synonyms":["ISG15基因完全缺陷所致MSMD"],"definition":"ISG15完全性缺陷所致孟德尔遗传易感分枝杆菌病(MSMD)是由ISG15完全缺乏引起的MSMD（见该术语）的一种遗传变异，其特征是卡介苗感染。"},"tr":{"name":"Tam ISG15 eksikliğine bağlı olarak mikobakteriyel hastalıklara Mendel tipi yatkınlık","synonyms":["Tam ISG15 eksikliğine bağlı MSMD"]}},"xrefs":[{"source":"OMIM","code":"616126","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":"attributed","validated":true},{"source":"MONDO","code":"0014502","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509853","qualifier":"E","icd_relation":null,"validated":true}],"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]},{"orpha":477647,"name":"Type 1 interferonopathy","classifications":[156,196]},{"orpha":481671,"name":"Type 1 interferonopathy of childhood","classifications":[231]}],"children":[],"genes":[{"symbol":"ISG15","name":"ISG15 ubiquitin like modifier","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22859821[PMID]","hgnc":"4053","ensembl":"ENSG00000187608","omim":"147571","loci":["1p36.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"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}