{"orpha":436166,"name":"Periodic fever-infantile enterocolitis-autoinflammatory syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NLRC4-related autoinflammatory syndrome with macrophage activation syndrome","NLRC4-related infantile enterocolitis-autoinflammatory syndrome","NLRC4-related macrophage activation syndrome","NLRC4-related MAS","NLRC4-related autoinflammatory syndrome with MAS"],"definition":"A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-436166/","orphanet_url":"https://www.orpha.net/en/disease/detail/436166","names":{"fr":{"name":"Syndrome auto-inflammatoire-fièvre périodique-entérocolite infantile","synonyms":["SAM associé à NLRC4","Syndrome auto-inflammatoire avec SAM associé à NLRC4","Syndrome auto-inflammatoire avec syndrome d'activation des macrophages associé à NLRC4","Syndrome auto-inflammatoire-entérocolite infantile associé à NLRC4","Syndrome d'activation des macrophages associé à NLRC4"],"definition":"Maladie systémique ou rhumatologique rare d'origine génétique caractérisée par l'apparition néonatale ou infantile d'une entérocolite (qui disparaît avec l'âge), des poussées de fièvre et des poussées inflammatoires systémiques sévères, qui peuvent être déclenchées par des infections, le stress ou la fatigue. Les symptômes et signes cliniques sont une splénomégalie, des éruptions cutanées de type urticaire, des arthralgies et des myalgies. Les analyses biologiques font apparaître un taux élevé des marqueurs inflammatoires (tels que la ferritine, la protéine C-réactive), une pancytopénie et un taux élevé de transaminases. Non traitées, les poussées inflammatoires peuvent évoluer vers une coagulopathie, une défaillance d'organes et le décès."},"de":{"name":"Periodisches Fieber-infantile Enterocolitis-autoinflammatorisches Syndrom","synonyms":["Makrophagen-Aktivierungssyndrom, NLRC4-abhängiges","NLRC4-abhängige infantile Enterocolitis mit Autoinflammation","NLRC4-abhängiges autoinflammatorisches Syndrom mit Makrophagen-Aktivierungssyndrom","NLRC4-assoziiertes MAS","NLRC4-assoziiertes autoinflammatorisches Syndrom mit MAS"],"definition":"Eine seltene genetisch bedingte systemische oder rheumatologische Erkrankung, die durch eine im Neugeborenen- oder Säuglingsalter einsetzende Enterokolitis (die mit zunehmendem Alter abklingt), periodisches Fieber und Episoden schwerer systemischer Entzündungen gekennzeichnet ist, die durch Infektionen, Stress oder Müdigkeit ausgelöst werden können. Zu den Anzeichen und Symptomen gehören Splenomegalie, urtikariaähnliche Hautausschläge, Arthralgie und Myalgie. Begleitende Laborbefunde sind erhöhte Entzündungsmarker (wie Ferritin, C-reaktives Protein), Panzytopenie und erhöhte Transaminasen. Unbehandelt können die Schübe zu Koagulopathie, Organversagen und Tod führen."},"es":{"name":"Síndrome autoinflamatorio-fiebre periódica-enterocolitis del lactante","synonyms":["Síndrome autoinflamatorio-enterocolitis del lactante asociado al gen NLRC4","Síndrome de activación del macrófago asociado al gen NLRC4","Síndrome de activación macrofágica asociado al gen NLRC4"],"definition":"Es una enfermedad sistémica o reumatológica genética y poco frecuente caracterizada por la aparición de enterocolitis en el recién nacido o en el lactante (que se resuelve con la edad), fiebre periódica y episodios de inflamación sistémica grave que pueden estar desencadenados por infecciones, estrés o fatiga. Los signos y síntomas incluyen esplenomegalia, erupciones similares a urticaria, artralgia y mialgia. Los hallazgos de laboratorio asociados son elevación de los marcadores inflamatorios (como ferritina, proteína C reactiva), pancitopenia e incremento de las transaminasas. Sin tratamiento, los brotes pueden progresar a coagulopatía, fallo orgánico y muerte."},"it":{"name":"Sindrome autoinfiammatoria-febbre periodica-enterocolite infantile","synonyms":["MAS correlata a NLRC4","Sindrome autoinfiammatoria con attivazione dei macrofagi correlata a NLRC4","Sindrome autoinfiammatoria con enterocolite infantile correlata a NLRC4","Sindrome autoinfiammatoria correlata a NLRC4 con MAS","Sindrome da attivazione dei macrofagi correlata a NLRC4"],"definition":"Si tratta di una malattia sistemica o reumatica genetica rara, caratterizzata da enterocolite ad esordio neonatale o infantile (che si risolve con l'età), febbre periodica ed episodi di infiammazione sistemica grave, che può essere scatenata dalle infezioni, dallo stress o dall'affaticamento. I segni clinici comprendono la splenomegalia, le eruzioni orticarioidi, l'artralgia e la mialgia. Gli esami di laboratorio evidenziano livelli elevati dei marcatori di infiammazione (ferritina e proteina C-reattiva), pancitopenia e livelli elevati delle transaminasi. Se non trattati, gli episodi possono progredire verso la coagulopatia, l'insufficienza d'organo e la morte."},"nl":{"name":"Periodieke koorts - infantiele enterocolitis - auto-inflammatoir syndroom","synonyms":["NLRC4-gerelateerd MAS","NLRC4-gerelateerd auto-inflammatoir syndroom met MAS","NLRC4-gerelateerd auto-inflammatoir syndroom met macrofaagactivatiesyndroom","NLRC4-gerelateerd infantiele enterocolitis - auto-inflammatoir syndroom","NLRC4-gerelateerd macrofaagactivatiesyndroom"],"definition":"Een zeldzame, genetische systemische of reumatologische aandoening, gekarakteriseerd door neonatale of infantiele aanvang van enterocolitis (die verdwijnt met ouder worden), periodieke koorts, en episodes van ernstige systemische inflammatie, die verergerd kunnen worden door infectie, stress of vermoeidheid. Verschijnselen en symptomen zijn onder meer splenomegalie, op urticaria gelijkende huiduitslag, artralgie, en myalgie. Geassocieerde laboratoriumbevindingen zijn verhoogde gehaltes van inflammatoire merkers (zoals ferritine, C-reactief proteïne) en transaminasen, alsook pancytopenie. Zonder behandeling kunnen opflakkeringen evolueren tot coagulopathie, orgaanfalen, en overlijden."},"pt":{"name":"Síndrome autoinflamatório de febre periódica-enterocolite da infância"},"pl":{"name":"Zespół gorączki okresowej, dziecięcego zapalenia jelit i autozapalenia","synonyms":["Zespół aktywacji makrofagów zależny od NLRC4","Zespół dziecięcego zapalenia jelit i autozapalenia zależny od NLRC4","Zespół autozapalenia z zespołem aktywacji makrofagów zależny od NLRC4","Zespół dziecięcego zapalenia jelit i choroby autoinflamatoryjnej zależny od NLRC4"]},"cs":{"name":"Autozánětlivý syndrom s periodickými horečkami a infantilní enterokolitidou","synonyms":["NLRC4-related autoinflammatory syndrome with macrophage activation syndrome","NLRC4-related infantile enterocolitis-autoinflammatory syndrome","NLRC4-related macrophage activation syndrome","NLRC4-related MAS","NLRC4-related autoinflammatory syndrome with MAS"]},"uk":{"name":"Періодична лихоманка - дитячий ентероколіт - аутозапальний синдром","synonyms":["Аутозапальний синдром, повязаний з NLRC4, із синдромом активації макрофагів","Аутозапальний синдром, повязаний з NLRC4, з МАС","Повязаний з NLRC4 дитячий ентероколіт - аутозапальний синдром","Синдром активації макрофагів, повязаний з NLRC4","MAS, повязані з NLRC4"],"definition":"A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death."},"zh":{"name":"周期性发热-小儿小肠结肠炎-自体炎症综合征","synonyms":["NLRC4相关的自身免疫性疾病合并和巨噬细胞活化综合征"],"definition":"罕见的遗传性系统性或风湿性疾病，其特征是新生儿或婴儿小肠结肠炎（随着年龄的增长而消退），周期性发烧以及严重的全身性炎症发作，可能由感染、压力或疲劳引起。体征和症状包括脾肿大，荨麻疹样皮疹，关节痛和肌痛。相关的实验室检查结果包括炎性标志物（如铁蛋白，C反应蛋白）升高，全血细胞减少和转氨酶升高。如果不及时治疗，疾病可发展为凝血病，器官衰竭甚至死亡。"},"tr":{"name":"Periyodik ateş-infantil enterokolit-otoinflamatuar sendrom","synonyms":["NLRC4-ilişkili MAS","NLRC4-ilişkili makrofaj aktivasyon sendromu","MAS ile seyreden NLRC4 ilişkili otoinflamatuar sendrom","NLRC4-ilişkili infantil enterokolit-otoinflamatuar sendrom","Makrofaj aktivasyon sendromu ile seyreden NLRC4-ilişkili otoinflamatuar sendrom"]}},"xrefs":[{"source":"OMIM","code":"616050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E85.0","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":"0014472","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015067","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":324924,"name":"Hereditary periodic fever syndrome","classifications":[156,196,231]},{"orpha":717871,"name":"Rare systemic or rheumatologic disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"NLRC4","name":"NLR family CARD domain containing 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25217960[PMID]_25217959[PMID]","hgnc":"16412","ensembl":"ENSG00000091106","omim":"606831","loci":["2p22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"25217959[PMID]_25217960[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25217959[PMID]_25217960[PMID]"}],"phenotypes":null}