{"orpha":500062,"name":"Infantile-onset periodic fever-panniculitis-dermatosis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ORAS","OTULIN deficiency","OTULIN-related autoinflammatory syndrome","Otulipenia"],"definition":"A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leukocytosis with neutrophilia in the absence of infection.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-500062/","orphanet_url":"https://www.orpha.net/en/disease/detail/500062","names":{"fr":{"name":"Syndrome infantile de fièvre récurrente-panniculite-dermatose","synonyms":["Déficit en OTULIN","ORAS","Otulipénie","Syndrome auto-inflammatoire infantile associé à OTULIN"],"definition":"Syndrome auto-inflammatoire génétique rare caractérisé par l'apparition précoce d'épisodes répétés de fièvre, de panniculite nodulaire riche en neutrophiles, d'arthralgie et de lipodystrophie. Parmi les autres signes cliniques rapportés figurent la diarrhée, le retard de croissance staturo-pondéral, la lymphadénopathie et la vascularite. L'examen biologique peut révéler une élévation de la protéine C-réactive sérique et une leucocytose avec neutrophilie en l'absence d'infection."},"de":{"name":"Periodisches Fieber mit Beginn im Kindesalter-Pannikulitis-Dermatose-Syndrom","synonyms":["ORAS","OTULIN-Mangel","OTULIN-assoziiertes autoinflammatorisches Syndrom","Otulipenie"],"definition":"Ein seltenes genetisch bedingtes autoinflammatorisches Syndrom, das durch früh einsetzende, wiederholte Fieberschübe, knotige, neutrophilenreiche Pannikulitis, Arthralgie und Lipodystrophie gekennzeichnet ist. Darüber hinaus wird über Durchfall, Gedeihstörung, Lymphadenopathie und Vaskulitis berichtet. Bei der Laboruntersuchung können ein erhöhtes C-reaktives Protein im Serum und eine Leukozytose mit Neutrophilie festgestellt werden, auch wenn keine Infektion vorliegt."},"es":{"name":"Síndrome de fiebre periódica-paniculitis-dermatosis de inicio en el lactante","synonyms":["Deficiencia de OTULIN","ORAS","Otulipenia","Síndrome autoinflamatorio asociado a OTULIN"],"definition":"Es un síndrome autoinflamatorio genético poco frecuente caracterizado por el inicio precoz de episodios recurrentes de fiebre, paniculitis de predominio neutrofílico, artralgia y lipodistrofia. Otras características adicionales descritas incluyen diarrea, fallo de medro, linfadenopatía y vasculitis. Las pruebas de laboratorio pueden revelar un aumento en suero de la proteína C reactiva y leucocitosis con neutrofilia en ausencia de infección."},"it":{"name":"Sindrome febbre periodica a esordio neonatale - panniculite - dermatosi","definition":"Si tratta di una malattia autoinfiammatoria genetica rara, caratterizzata da episodi ripetuti di febbre ad esordio precoce, pannicolite nodulare ricca di neutrofili, artralgia e lipodistrofia. Altri segni clinici sono la diarrea, il ritardo della crescita, la linfoadenopatia e la vasculite. Gli esami di laboratorio evidenziano livelli elevati di proteina C-reattiva nel siero e leucocitosi con neutrofilia, in assenza di infezioni."},"nl":{"name":"Periodieke koorts - panniculitis - dermatose-syndroom met aanvang in de zuigelingentijd","synonyms":["ORAS","OTULIN-deficiëntie","OTULIN-gerelateerd auto-inflammatoir syndroom","Otulipenie"],"definition":"Een zeldzaam, genetisch auto-inflammatoir syndroom, gekarakteriseerd door vroege aanvang van recidiverende episodes van koorts, nodulaire neutrofielrijke panniculitis, artralgie, en lipodystrofie. Bijkomende kenmerken die werden gerapporteerd, zijn onder meer diarree, groeifalen, lymfadenopathie, en vasculitis. Laboratoriumonderzoek toont mogelijk verhoogd gehalte van C-reactief proteïne in serum en leukocytose met neutrofilie in afwezigheid van infectie."},"pt":{"name":"Síndrome febre periódica-paniculite-dermatose de início na infância"},"pl":{"name":"Zespół okresowej gorączki, zapalenia tkanki tłuszczowej i dermatozy o początku w niemowlęctwie","synonyms":["Otulipenia","Niedobór OTULIN","Zespół autoinflamatoryjny związany z OTULIN"]},"cs":{"name":"Syndrom zahrnující periodické horečky, panniculitidu a dermatózu s nástupem v kojeneckém věku","synonyms":["ORAS","Otulipenia","OTULIN deficiency","OTULIN-related autoinflammatory syndrome","Otulipenie","OTULIN deficit","Autoinflamatorní syndrom související s OTULINem"]},"uk":{"name":"Інфантильний синдром періодичної лихоманки-паннікуліту-дерматозу","synonyms":["ORAS","Дефіцит OTULIN","Аутозапальний синдром, повязаний з OTULIN","Отуліпенія"],"definition":"A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leukocytosis with neutrophilia in the absence of infection."},"zh":{"name":"婴儿期发作的周期性发热-脂膜炎-皮病综合征","synonyms":["OTULIN相关自身免疫综合征"],"definition":"一种罕见的遗传性自身炎症性综合征，其特征是早期反复发作的发热、结节性富嗜中性粒细胞的脂膜炎、关节痛和脂肪营养不良。其他报道的特征还包括腹泻、发育停滞、淋巴结病和血管炎。实验室检查可发现血清C反应蛋白升高，白细胞增多，在没有感染的情况下有中性粒细胞增多。"},"tr":{"name":"İnfantil başlangıçlı periyodik ateş-pannikülit-dermatoz sendromu","synonyms":["ORAS","Otulipeni","OTULIN eksikliği","OTULIN-ilişkili otoinflamatuar sendrom"]}},"xrefs":[{"source":"OMIM","code":"617099","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D89.8","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":"0014912","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310614","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13198","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":324924,"name":"Hereditary periodic fever syndrome","classifications":[156,196,231]}],"children":[],"genes":[{"symbol":"OTULIN","name":"OTU deubiquitinase with linear linkage specificity","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27686184[PMID]_27559085[PMID]_27523608[PMID]","hgnc":"25118","ensembl":"ENSG00000154124","omim":"615712","loci":["5p15.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"27523608[PMID]_27559085[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27523608[PMID]_27559085[PMID]"}],"phenotypes":null}