{"orpha":210115,"name":"Sterile multifocal osteomyelitis with periostitis and pustulosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency","DIRA","Interleukin-1 receptor antagonist deficiency","OMPP"],"definition":"Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-210115/","orphanet_url":"https://www.orpha.net/en/disease/detail/210115","names":{"fr":{"name":"Ostéomyélite stérile multifocale avec périostéite et pustulose","synonyms":["DIRA","Déficit de l'antagoniste du récepteur à l'interleukine-1","Maladie auto-inflammatoire par déficit de l'antagoniste du récepteur à l'interleukine-1"],"definition":"Syndrome auto-inflammatoire génétique rare et grave, caractérisé par l'apparition généralement néonatale d'une pustulose cutanée neutrophilique généralisée et d'une ostéomyélite aseptique grave, récidivante et multifocale avec périostite marquée, affectant typiquement l'extrémité distale des côtes, les os longs et les corps vertébraux. Par ailleurs, des taux élevés de protéines réactives de phase aiguë (sans fièvre associée) et une onychose sont fréquemment observés."},"de":{"name":"Sterile multifokale Osteomyelitis mit Periostitis und Pustulose","synonyms":["Autoinflammatorische Krankheit durch Interleukin-1-Rezeptorantagonist-Mangel","DIRA","Interleukin-1-Rezeptorantagonist-Mangel","OMPP"]},"es":{"name":"Osteomielitis multifocal estéril con periostitis y pustulosis","synonyms":["DIRA","Deficiencia del antagonista del receptor de interleuquina 1","Enfermedad autoinflamatoria por deficiencia del antagonista del receptor de interleuquina 1","OMPP"],"definition":"Es un síndrome autoinflamatorio genético poco frecuente y grave. Por lo general, se caracteriza por el inicio neonatal de pustulosis cutánea neutrofílica generalizada y osteomielitis aséptica, multifocal, recurrente y grave, con marcada periostitis, que afecta habitualmente a las costillas distales, huesos largos y cuerpos vertebrales. Otras características adicionales que se observan con frecuencia son niveles altos de reactantes de fase aguda (sin fiebre asociada) y onicosis."},"it":{"name":"Osteomielite multifocale sterile con periostosi e pustolosi","synonyms":["DIRA","Deficit dell'antagonista del recettore dell'interleuchina-1","Malattia autoinfiammatoria da deficit dell'antagonista del recettore dell'interleuchina-1","OMPP"],"definition":"L'osteomielite multifocale sterile con periostosi e pustolosi è una grave malattia autoinfiammatoria genetica rara, caratterizzata da pustolosi cutanea neutrofila generalizzata, a prevalente esordio neonatale, associata ad osteomielite asettica multifocale grave ricorrente, con periostosi marcata, che di solito interessa le costole distali, le ossa lunghe e i corpi vertebrali. Spesso i pazienti presentano livelli elevati dei reagenti della fase acuta (in assenza di febbre) e onicosi."},"nl":{"name":"Steriele multifocale osteomyelitis met periostitis en pustulose","synonyms":["Auto-inflammatoire ziekte door deficiëntie van interleukine-1-receptorantagonist","DIRA","Deficiëntie van interleukine-1-receptorantagonist","OMPP"],"definition":"Steriele multifocale osteomyelitis met periostitis en pustulose is een zeldzaam, ernstig, genetisch auto-inflammatoir syndroom dat gekarakteriseerd wordt door meestal neonatale aanvang van gegeneraliseerde neutrofiele cutane pustulose en ernstige, recurrente, multifocale, aseptische osteomyelitis met duidelijke periostitis die doorgaans distale ribben, pijpbeenderen en wervellichamen treft. Hoge gehaltes van acute-fase reactanten (zonder geassocieerde koorts) en onychose zijn bijkomende kenmerken die frequent waargenomen."},"pt":{"name":"Doença autoinflamatória por deficiência do antagonista do recetor da interleucina-1"},"pl":{"name":"Jałowe wieloogniskowe zapalenie kości i szpiku z zapaleniem okostnej i krostkowicą","synonyms":["Choroba autoimmunologiczna z powodu niedoboru antagonisty receptora interleukiny-1","DIRA","Niedobór antagonisty receptora interleukiny-1","OMPP"],"definition":"*Jałowe wieloogniskowe zapalenie kości i szpiku z zapaleniem okostnej i krostkowicą jest rzadkim, ciężkim, genetycznie uwarunkowanym zespołem autozapalnym, który charakteryzuje się uogólnioną neutrofilową krostkowicą skóry (zwykle w okresie noworodkowym) oraz ciężkim, nawracającym, wieloogniskowym, aseptycznym zapaleniem kości i szpiku z wyraźnym zapaleniem okostnej, zwykle obejmującym dystalne odcinki żeber, kości długie i trzony kręgów. Dodatkowo często obserwuje się wysokie stężenia białek ostrej fazy (bez towarzyszącej gorączki) i onychoza (dystrofia płytek paznokciowych)."},"cs":{"name":"Sterilní multifokální osteomyelitida s periostitidou a pustulózou","synonyms":["DIRA","Deficit antagonisty interleukinu 1","OMPP","Autoimunitní choroba způsobená deficitem antagonisty interleukin-1 receptoru"]},"uk":{"name":"Стерильний мультифокальний остеомієліт з періоститом та пустульозом","synonyms":["Автозапальне захворювання, спричинене дефіцитом антагоніста рецептора інтерлейкіну-1","DIRA","Дефіцит антагоністів рецепторів інтерлейкіну-1","OMPP"],"definition":"Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features."},"zh":{"name":"无菌多病灶骨髓炎伴骨膜炎和脓疱病","synonyms":["白细胞介素-1受体抗体剂缺乏所致自身炎症性疾病"],"definition":"无菌性多发性骨髓炎伴骨膜炎和脓疱病是一种罕见的、严重的、遗传性自身炎性综合征，其主要临床表现为新生儿出现广泛的皮肤嗜中性脓疱病，以及反复发作的严重多发性无菌性骨髓炎，伴骨膜炎，一般会影响远端肋骨、长骨和椎体。还可表现为急性期反应物（与发热无关）增多和甲沟炎。"},"tr":{"name":"Periostitis ve püstüloz ile seyreden steril multifokal osteomiyelit","synonyms":["DİRA","OMPP","İnterlökin-1 reseptör antagonisti eksikliği","İnterlökin-1 reseptör antagonist eksikliğine bağlı otoinflamatuar hastalık"]}},"xrefs":[{"source":"OMIM","code":"612852","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D84.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"4A00.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1499483400"},{"source":"MONDO","code":"0013021","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C557815","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2748507","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10516","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072224","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":290839,"name":"Autoinflammatory syndrome with immune deficiency","classifications":[156,195]},{"orpha":290842,"name":"Autoinflammatory syndrome with skin involvement","classifications":[187]},{"orpha":622720,"name":"Genetic autoinflammatory syndrome with skin involvement","classifications":[156]},{"orpha":498445,"name":"Genetic inflammatory or rheumatoid-like osteoarthropathy","classifications":[147,156,199]},{"orpha":324927,"name":"Pyogenic autoinflammatory syndrome","classifications":[196]},{"orpha":324942,"name":"Pyogenic autoinflammatory syndrome of childhood","classifications":[231]},{"orpha":619238,"name":"Rare hereditary autoinflammatory disease","classifications":[156]}],"children":[],"genes":[{"symbol":"IL1RN","name":"interleukin 1 receptor antagonist","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19494218[PMID]","hgnc":"6000","ensembl":"ENSG00000136689","omim":"147679","loci":["2q14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"24131530[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24131530[PMID]"}],"phenotypes":null}