{"orpha":324977,"name":"Proteasome-associated autoinflammatory syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ALDD syndrome","Autoinflammation-lipodystrophy-dermatosis syndrome","PRAAS","Proteasome disability syndrome"],"definition":"A rare, autosomal recessive autoinflammatory disorder characterized by early-onset erythematous popular/nodular skin eruptions, recurrent fever, possible joint contractures, lipodystrophy, erythematous inflammatory skin changes, joint and muscle involvement (joint contractures, arthralgia, muscle weakness), and hepatosplenomegaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324977/","orphanet_url":"https://www.orpha.net/en/disease/detail/324977","names":{"fr":{"name":"Syndrome auto-inflammatoire lié au protéasome","synonyms":["PRAAS","Syndrome ALDD","Syndrome auto-inflammatoire-lipodystrophie-dermatoses"],"definition":"Maladie auto-inflammatoire rare autosomique récessive, caractérisée par des éruptions cutanées érythémateuses papuleuses/nodulaires à début précoce, une fièvre récurrente, de possibles contractures articulaires, une lipodystrophie, des lésions inflammatoires érythémateuses de la peau, des atteintes articulaires et musculaires (contractures articulaires, arthralgie, faiblesse musculaire) et une hépatosplénomégalie."},"de":{"name":"Proteasom-assoziiertes autoinflammatorisches Syndrom","synonyms":["ALDD-Syndrom","Autoinflammation-Lipodystrophie-Dermatose-Syndrom","PRAAS","Störung der Proteasom-Funktionalität"],"definition":"Eine autosomal-rezessive autoinflammatorische Krankheit, die durch früh einsetzende erythematöse populäre/noduläre Hauteruptionen, rezidivierendes Fieber, mögliche Gelenkkontrakturen, Lipodystrophie, erythematöse entzündliche Hautveränderungen, Gelenk- und Muskelbeteiligung (Gelenkkontrakturen, Arthralgie, Muskelschwäche) und Hepatosplenomegalie gekennzeichnet ist."},"es":{"name":"Síndrome autoinflamatorio asociado al proteosoma","synonyms":["PRAAS","Síndrome de ALDD","Síndrome de autoinflamación-lipodistrofia-dermatosis","Síndrome de discapacidad por proteosoma"],"definition":"Es un trastorno autoinflamatorio autosómico recesivo poco frecuente caracterizado por erupciones cutáneas eritematosas papulares/ nodulares de inicio temprano, fiebre recurrente, lipodistrofia, cambios cutáneos inflamatorios eritematosos, afectación articular y muscular (contracturas articulares, artralgia, debilidad muscular) y hepatoesplenomegalia."},"it":{"name":"Sindrome autoinfiammatoria correlata al proteasoma","synonyms":["PRAAS","Sindrome ALDD","Sindrome autoinfiammatoria proteasoma-correlata","Sindrome autoinfiammatoria-lipodistrofia-dermatosi"],"definition":"Si tratta di una malattia autoinfiammatoria autosomica recessiva rara, caratterizzata da eruzioni cutanee eritematose papulari/nodulari ad esordio precoce, febbre ricorrente, contratture articolari, lipodistrofia, alterazioni cutanee eritematose infiammatorie, interessamento articolare e muscolare (contratture articolari, artralgia, debolezza muscolare) ed epatosplenomegalia."},"nl":{"name":"Proteasoom-geassocieerd auto-inflammatoir syndroom","synonyms":["ALDD-syndroom","Auto-inflammatie - lipodystrofie - dermatose-syndroom","PRAAS","Proteasoomdisfunctie-syndroom"],"definition":"Een zeldzame, autosomaal recessieve auto-inflammatoire aandoening, gekarakteriseerd door vroeg optredende erythemateuze papulair/nodulaire erupties van huid, recidiverende koorts, mogelijke gewrichtscontracturen, lipodystrofie, erythemateuze inflammatoire veranderingen van huid, betrokkenheid van gewrichten en spieren (gewrichtscontracturen, artralgie, spierzwakte), en hepatosplenomegalie."},"pt":{"name":"Síndrome autoinflamatório associado aos proteossomas"},"pl":{"name":"Zespół niestabilności proteasomów","synonyms":["PRAAS","Zespół ALDD","Zespół autozapalenia związany z proteasomami","Zespół autozapalenie-lipodystrofia-dermatozy"]},"cs":{"name":"Syndrom postižení proteazomu","synonyms":["ALDD syndrom","PRAAS","Autoimunitní syndrom asociovaný s proteazomem","Syndrom zahrnující autozáněty, lipodystrofii a dermatózu"]},"uk":{"name":"Протеасома-асоційований аутозапальний синдром","synonyms":["Синдром ALDD","Синдром аутозапалення-ліподистрофії-дерматозу","PRAAS","Синдром протеасомної інвалідності"],"definition":"A rare, autosomal recessive autoinflammatory disorder characterized by early-onset erythematous popular/nodular skin eruptions, recurrent fever, possible joint contractures, lipodystrophy, erythematous inflammatory skin changes, joint and muscle involvement (joint contractures, arthralgia, muscle weakness), and hepatosplenomegaly."},"zh":{"name":"蛋白酶体相关自身炎症综合征","synonyms":["自身炎症-脂质营养不良-皮肤病综合征"],"definition":"蛋白酶体相关自身炎症综合征描述了一组常染色体隐性遗传的以脂肪营养不良和皮肤发疹为特征的自身炎症性疾病。属于这一类的疾病包括Nakajo-Nishimura综合征（NNS）、JMP综合征和CANDLE综合征，都是由 PSMB8基因（6p21.3）突变引起的。"},"tr":{"name":"Proteazomla -ilişkili otoinflamatuar sendrom","synonyms":["PRAAS","ALDD sendromu","Proteazom sakatlık sendromu","Otoinflamasyon-lipodistrofi-dermatoz sendromu"]}},"xrefs":[{"source":"OMIM","code":"256040","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617591","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618048","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619175","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619183","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M35.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A60.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0009726","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2615,"name":"Nakajo-Nishimura syndrome","status":"inactive"},{"type":"Moved to","orpha":324999,"name":"JMP syndrome","status":"inactive"},{"type":"Moved to","orpha":325004,"name":"CANDLE syndrome","status":"inactive"}],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":290842,"name":"Autoinflammatory syndrome with skin involvement","classifications":[187]},{"orpha":622720,"name":"Genetic autoinflammatory syndrome with skin involvement","classifications":[156]},{"orpha":98305,"name":"Genetic lipodystrophy","classifications":[156,187,193]},{"orpha":477647,"name":"Type 1 interferonopathy","classifications":[156,196]},{"orpha":481671,"name":"Type 1 interferonopathy of childhood","classifications":[231]}],"children":[],"genes":[{"symbol":"PSMB8","name":"proteasome 20S subunit beta 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21852578[PMID]_21129723[PMID]_21953331[PMID]","hgnc":"9545","ensembl":"ENSG00000204264","omim":"177046","loci":["6p21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24131530[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"24131530[PMID]"}],"phenotypes":null}