{"orpha":597201,"name":"TRIM22-related inflammatory bowel disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["TRIM22-related IBD"],"definition":"A rare genetic gastroenterological disease characterized by infantile or childhood onset of severe gastrointestinal inflammation. Patients present with a variable phenotype including fever, diarrhea, failure to thrive, oral ulcers, fistulating perianal disease, strictures, granulomatous colitis, and recurrent bacterial and viral infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-597201/","orphanet_url":"https://www.orpha.net/en/disease/detail/597201","names":{"fr":{"name":"Maladie inflammatoire de l'intestin associée à TRIM22","definition":"Maladie gastroentérologique rare, d'origine génétique, caractérisée par l'apparition, pendant la petite enfance ou l'enfance, d'une inflammation gastro-intestinale sévère. Les patients présentent un phénotype variable comprenant fièvre, diarrhée, retard de croissance, ulcères buccaux, fistules périanales, sténose, colite granulomateuse et infections virales et bactériennes récurrentes."},"de":{"name":"TRIM22-abhängige chronisch-entzündliche Darmerkrankung","synonyms":["TRIM22-abhängige IBD"],"definition":"Eine seltene genetisch bedingte gastroenterologische Erkrankung, bei der im Kleinkindalter oder in der Kindheit eine schwere Magen-Darm-Entzündung auftritt. Die Patienten zeigen einen variablen Phänotyp mit Fieber, Durchfall, Gedeihstörung, oralen Geschwüren, Perianalfisteln, Strikturen, granulomatöser Kolitis und wiederkehrenden bakteriellen und viralen Infektionen."},"es":{"name":"Enfermedad inflamatoria intestinal asociada a TRIM22","definition":"Es una enfermedad digestiva poco frecuente de origen genético caracterizada por inflamación gastrointestinal grave de inicio en la lactancia o en la infancia. Los pacientes presentan un fenotipo variable que incluye fiebre, diarrea, fallo de medro, úlceras orales, enfermedad fistulosa perianal, estenosis, colitis granulomatosa e infecciones bacterianas y virales recurrentes."},"it":{"name":"Malattia intestinale infiammatoria correlata a TRIM22","synonyms":["IBD correlata a TRIM22"]},"nl":{"name":"TRIM22-gerelateerde inflammatoire darmziekte","synonyms":["TRIM22-gerelateerde IBD"],"definition":"Een zeldzame, genetische gastro-enterologische aandoening, gekenmerkt door aanvang in de zuigelingen- of kindertijd van ernstige gastro-intestinale inflammatie. Patiënten vertonen een variabel fenotype met onder meer koorts, diarree, niet-gedijen, orale ulcera, fistulerende perianale ziekte, stricturen, granulomateuze colitis, en recidiverende bacteriële en virale infecties."},"pt":{"name":"Doença inflamatória do intestino TRIM22-relacionada","synonyms":["DII TRIM22-relacionada"],"definition":"Doença gastroenterológica genética rara caracterizada por início na infância de inflamação gastrointestinal grave. Os doentes apresentam um fenótipo variável, incluindo febre, diarreia, atraso estaturoponderal, úlceras orais, doença perianal fistulosa, estenoses, colite granulomatosa e infeções bacterianas e virais recorrentes."},"pl":{"name":"Choroba zapalna jelit związana z TRIM22","synonyms":["TRIM22-related IBD"],"definition":"Rzadka genetycznie uwarunkowana choroba gastroenterologiczna charakteryzująca się ciężkim zapaleniem przewodu pokarmowego o początku w wieku niemowlęcym lub dziecięcym. Fenotyp jest zmienny, obejmuje gorączkę, biegunkę, brak przyrostu masy ciała, owrzodzenia jamy ustnej, przetoki w okolicy odbytu, zwężenia, ziarniniakowe zapalenie jelita grubego oraz nawracające infekcje bakteryjne i wirusowe."},"cs":{"name":"Zánětlivé onemocnění střev související s TRIM22","synonyms":["TRIM22-related IBD"]},"uk":{"name":"Запальні захворювання кишечника, повязані з TRIM22","synonyms":["IBD, повязаний з TRIM22"],"definition":"A rare genetic gastroenterological disease characterized by infantile or childhood onset of severe gastrointestinal inflammation. Patients present with a variable phenotype including fever, diarrhea, failure to thrive, oral ulcers, fistulating perianal disease, strictures, granulomatous colitis, and recurrent bacterial and viral infections."},"zh":{"name":"TRIM22-related inflammatory bowel disease","synonyms":["TRIM22-related IBD"]},"tr":{"name":"TRIM22-related inflammatory bowel disease","synonyms":["TRIM22-related IBD"]}},"xrefs":[{"source":"ICD-10","code":"K52.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DD7Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035362","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680271","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":717851,"name":"Rare non-syndromic inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"TRIM22","name":"tripartite motif containing 22","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32463623[PMID]_26836588[PMID]","hgnc":"16379","ensembl":"ENSG00000132274","omim":"606559","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"26836588[PMID]_32463623[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"26836588[PMID]_32463623[PMID]_ORPHANET"}],"phenotypes":null}