{"orpha":596759,"name":"RELA haploinsufficiency-associated inflammatory disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RAID"],"definition":"A rare non-severe combined immunodeficiency characterized by TNF-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-596759/","orphanet_url":"https://www.orpha.net/en/disease/detail/596759","names":{"fr":{"name":"Déficit immunitaire combiné par haploinsuffisance en RELA","synonyms":["RAID"],"definition":"Déficit immunitaire combiné rare et non-sévère, caractérisé par des ulcérations cutanéo-muqueuses chroniques dépendant du TNF et par une maladie inflammatoire de l'intestin, se manifestant au cours des premières années de la vie. Les ulcérations touchent principalement les muqueuses buccales, gastro-intestinales et vaginales."},"de":{"name":"RELA-Haploinsuffizienz-Syndrom","synonyms":["Behcet-artiges familiäres autoinflammatorisches Syndrom Typ 3","RELA-Haploinsuffizienz-assoziierte inflammatorische Erkrankung","RAID"],"definition":"Ein nicht schwerer kombinierter Immundefekt, der durch TNF-abhängige chronische mukokutane Ulzerationen und entzündliche Darmerkrankungen gekennzeichnet ist, die in den ersten Lebensjahren auftreten. Ulzerationen treten vor allem in der Mund-, Magen-Darm- und Vaginalschleimhaut auf."},"es":{"name":"Enfermedad inflamatoria asociada a haploinsuficiencia de RELA","synonyms":["RAID"],"definition":"Es una inmunodeficiencia combinada poco frecuente y no grave caracterizada por ulceraciones mucocutáneas crónicas dependientes de TNF y enfermedad inflamatoria intestinal que se presenta durante los primeros años de vida. Las ulceraciones ocurren principalmente en la mucosa oral, gastrointestinal y vaginal."},"it":{"name":"Immunodeficienza combinata da aploinsufficienza di Rela","synonyms":["RAID","Immunodeficienza combinata da aploinsufficienza del proto-oncogene RELA, subunità NF-kB"]},"nl":{"name":"Inflammatoire aandoening geassocieerd met RELA-haploinsufficiëntie","synonyms":["RAID"],"definition":"Een zeldzame niet-ernstige gecombineerde immuundeficiëntie, gekenmerkt door TNF-afhankelijke chronische mucocutane ulceraties en inflammatoire darmziekte die zich presenteren gedurende de eerste levensjaren. Ulceraties treden hoofdzakelijk op in oraal, gastro-intestinaal en vaginaal slijmvlies."},"pt":{"name":"Imunodeficiência combinada devida a haploinsuficiência RELA","synonyms":["Doença inflamatória RELA-associada","IDC devido a haploinsuficiência RELA","Imunodeficiência combinada devido a haploinsuficiência de proto-oncogene RELA, subunidade NF-kB","RAID"],"definition":"Imunodeficiência combinada rara não grave caracterizada por ulcerações mucocutâneas crónicas dependentes de TNF e doença inflamatória intestinal que se apresenta durante os primeiros anos de vida. As ulcerações ocorrem principalmente na mucosa oral, gastrointestinal e vaginal."},"pl":{"name":"Skojarzony niedobór odporności spowodowany haploinsuficjencją RELA","synonyms":["RAID"],"definition":"Rzadki, łagodny, złożony niedobór odporności, charakteryzujący się zależnymi od TNF przewlekłymi owrzodzeniami błony śluzowej i skóry oraz chorobą zapalną jelit, ujawniającą się w pierwszych latach życia. Owrzodzenia występują głównie na błonie śluzowej jamy ustnej, przewodu pokarmowego i pochwy."},"cs":{"name":"Kombinovaná imunodeficience způsobená haploinsuficiencí RELA","synonyms":["RAID"]},"uk":{"name":"Комбінований імунодефіцит, зумовлений гаплонедостатністю RELA","synonyms":["КІД внаслідок гаплонедостатності RELA"],"definition":"A rare non-severe combined immunodeficiency characterized by TNF-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa."},"zh":{"name":"Combined immunodeficiency due to RELA haploinsufficiency","synonyms":["CID due to RELA haploinsufficiency"]},"tr":{"name":"Combined immunodeficiency due to RELA haploinsufficiency","synonyms":["CID due to RELA haploinsufficiency"]}},"xrefs":[{"source":"OMIM","code":"618287","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035694","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680288","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183494,"name":"Genetic immune deficiency with skin involvement","classifications":[156]},{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]},{"orpha":480549,"name":"Non-severe combined immunodeficiency","classifications":[156,195,233]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":324936,"name":"Unclassified autoinflammatory syndrome","classifications":[196]}],"children":[],"genes":[{"symbol":"RELA","name":"RELA proto-oncogene, NF-kB subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32969189[PMID]_28600438[PMID]","hgnc":"9955","ensembl":"ENSG00000173039","omim":"164014","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"28600438[PMID]_29305315[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"28600438[PMID]_29305315[PMID]_ORPHANET"}],"phenotypes":null}