{"orpha":674762,"name":"Early-onset autoinflammatory syndrome due to A20 haploinsufficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Early-onset AID due to HA20","Early-onset autoinflammatory disorder due to HA20","Early-onset autoinflammatory syndrome associated with TNFAIP3","HA20-related monogenic Behcet-like disease"],"definition":"A rare autoinflammatory syndrome characterized by mostly early-onset, recurrent, refractory fever attacks, painful and recurrent mucosal ulceration affecting predominantly gastrointestinal (that may lead to inflammatory bowel disease), oral and genital areas. Additional variable features may include skin rash, psoriasis, axillary dermal abscesses, musculoskeletal disorders, polyarthritis, arthralgia, and autoimmune thyroid disorder. Ocular manifestations (including uveitis, chorioretinal scarring and macular fibrosis secondary to retinal vasculitis) are infrequent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-674762/","orphanet_url":"https://www.orpha.net/en/disease/detail/674762","names":{"fr":{"name":"Syndrome autoinflammatoire à début précoce lié à une haploinsuffisance en A20","synonyms":["Maladie de Behçet-like à début précoce associée à TNFAIP3","Maladie de Behçet-like à début précoce liéé à une haploinsuffisance de A20"],"definition":"Syndrome auto-inflammatoire rare caractérisé par des crises fébriles récurrentes, réfractaires, survenant généralement à un âge précoce, ainsi que par des ulcérations douloureuses et récurrentes des muqueuses, touchant principalement les voies gastro-intestinales (pouvant entraîner une maladie inflammatoire de l'intestin), la cavité buccale et les parties génitales. Les autres manifestations sont variables et peuvent inclure des éruptions cutanées, un psoriasis, des abcès cutanés au niveau des aisselles, des troubles musculo-squelettiques, une polyarthrite, des arthralgies et une maladie auto-immune de la thyroïde. Les manifestations oculaires (notamment l'uvéite, les cicatrices choriorétiniennes et la fibrose maculaire secondaire à une vascularite rétinienne) sont rares."},"de":{"name":"Früh einsetzendes autoinflammatorisches Syndrom durch A20-Haploinsuffizienz","synonyms":["A20-Haploinsuffizienz-Syndrom","Behcet-artiges familiäres autoinflammatorisches Syndrom Typ 1","HA20-assoziierte monogene Behçet-ähnliche Krankheit","TNFAIP3-assoziiertes früh einsetzendes autoinflammatorisches Syndrom"]},"es":{"name":"Síndrome autoinflamatorio por haploinsuficiencia de A20 de inicio precoz","synonyms":["EAI por HA20 de inicio precoz","Enfermedad autoinflamatoria por HA20 de inicio precoz","Enfermedad monogénica por HA20 similar a Behçet","Síndrome autoinflamatorio asociado al gen TNFAIP3 de inicio precoz"],"definition":"Es un síndrome autoinflamatorio poco frecuente caracterizado por episodios de fiebre recurrentes y refractarios, generalmente de inicio precoz, y ulceración mucosa dolorosa y recurrente que afecta predominantemente al sistema gastrointestinal (que puede derivar en enfermedad inflamatoria intestinal), y a la zona oral y genital. Entre las características variables adicionales se incluyen la erupción cutánea, la psoriasis, los abscesos dérmicos axilares, los trastornos musculoesqueléticos, la poliartritis, la artralgia y la enfermedad tiroidea autoinmune. Las manifestaciones oculares (como uveítis, cicatrices coriorretinianas y fibrosis macular secundaria a vasculitis retiniana) son infrecuentes."},"it":{"name":"Sindrome autoinfiammatoria ad esordio precoce da aploinsufficienza di A20","synonyms":["AID ad esordio precoce da HA20","Malattia autoinfiammatoria ad esordio precoce da HA20","Malattia monogenica simil-Behçet correlata a HA20","Sindrome autoinfiammatoria ad esordio precoce correlata a TNFAIP3","Malattia monogenica simil-Behçet correlata a HA20"]},"nl":{"name":"Vroeg optredend auto-inflammatoir syndroom door A20-haploinsufficiëntie","synonyms":["HA20-gerelateerde monogene Behçet-achtige ziekte","Vroeg optredend AID door HA20","Vroeg optredend auto-inflammatoir syndroom geassocieerd met TNFAIP3","Vroeg optredende auto-inflammatoire aandoening door HA20"],"definition":"Een zeldzaam autoinflammatoir syndroom, gekenmerkt door overwegend vroeg optredende, recidiverende, refractaire koortsaanvallen, en pijnlijke en recidiverende ulceratie van slijmvlies die hoofdzakelijk gastro-intestinale (wat kan leiden tot inflammatoire darmziekte), orale en genitale gebieden aantast. Mogelijke bijkomende variabele kenmerken zijn huiduitslag, psoriasis, huidabcessen aan de oksel, musculoskeletale aandoeningen, polyartritis, artralgie, en auto-immune aandoening van de schildklier. Oculaire manifestaties (waaronder uveïtis, chorioretinale littekenvorming en maculaire fibrose secundair aan retinale vasculitis) komen weinig voor."},"pt":{"name":"Síndrome auto-inflamatório de início precoce devido a haploinsuficiência A20","synonyms":["AID de início precoce devido a HA20","Doença auto-inflamatória de início precoce devido a HA20","Doença monogénica Behecet-like HA20-relacionada","Síndrome auto-inflamatório de início precoce associado a TNFAIP3"]},"pl":{"name":"Zespół autozapalny o wczesnym początku z powodu haploinsufficiencji A20","synonyms":["Early-onset AID due to HA20","Early-onset autoinflammatory disorder due to HA20","Early-onset autoinflammatory syndrome associated with TNFAIP3","HA20-related monogenic Behcet-like disease"]},"cs":{"name":"Autoinflamatorní syndrom způsobený haploinsuficiencí A20 s časným nástupem","synonyms":["Early-onset AID due to HA20","Early-onset autoinflammatory disorder due to HA20","Early-onset autoinflammatory syndrome associated with TNFAIP3","HA20-related monogenic Behcet-like disease"]},"uk":{"name":"Ранній аутозапальний синдром, зумовлений гаплонедостатністю А20","synonyms":["Ранній початок СНІДу, спричиненого HA20","Ранній початок аутозапального захворювання, спричиненого HA20","Ранній аутозапальний синдром, асоційований з TNFAIP3","Повязана з HA20 моногенна хвороба Бехчета"]}},"xrefs":[{"source":"OMIM","code":"616744","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-11","code":"4A60.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0800045","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"800045","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925090","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":619238,"name":"Rare hereditary autoinflammatory disease","classifications":[156]},{"orpha":717871,"name":"Rare systemic or rheumatologic disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":324936,"name":"Unclassified autoinflammatory syndrome","classifications":[196]},{"orpha":324953,"name":"Unclassified autoinflammatory syndrome of childhood","classifications":[231]}],"children":[],"genes":[{"symbol":"TNFAIP3","name":"TNF alpha induced protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30810840[PMID]_26642243[PMID]","hgnc":"11896","ensembl":"ENSG00000118503","omim":"191163","loci":["6q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}