{"orpha":565788,"name":"Infantile inflammatory bowel disease with neurological involvement","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-565788/","orphanet_url":"https://www.orpha.net/en/disease/detail/565788","names":{"fr":{"name":"Maladie inflammatoire infantile de l'intestin avec atteinte neurologique","definition":"Maladie génétique rare caractérisée par l'apparition infantile d'une maladie inflammatoire sévère de l'intestin se manifestant par une diarrhée sanglante et un retard de croissance staturo-pondérale, d'une maladie du système nerveux central avec un retard de développement global et une régression, des toubles de l'élocution, une hypotonie, une hyperréflexie et une épilepsie. L'imagerie cérébrale met en évidence une atrophie cérébrale globale, un corps calleux mince, un retard de myélinisation et une leucoencéphalopathie postérieure. Des cas d'infections récurrentes et une altération des réponses des cellules T à la stimulation, ainsi qu'une diminution des sous-ensembles de cellules T ont aussi été rapportés."},"de":{"name":"Infantile chronisch-entzündliche Darmerkrankung mit neurologischer Beteiligung","definition":"Eine seltene genetische Erkrankung, die durch eine im Kindesalter beginnende schwere entzündliche Darmerkrankung mit blutigem Durchfall und Gedeihstörung sowie eine Erkrankung des zentralen Nervensystems mit globaler Entwicklungsverzögerung und -rückbildung, Sprachstörungen, Hypotonie, Hyperreflexie und Epilepsie gekennzeichnet ist. Die Bildgebung des Gehirns zeigt eine globale zerebrale Atrophie, ein dünnes Corpus Callosum, eine verzögerte Myelinisierung und eine posteriore Leukoenzephalopathie. Es wurden Fälle mit rezidivierenden Infektionen und beeinträchtigten T-Zell-Reaktionen auf Stimulation sowie verminderten T-Zell-Untergruppen berichtet."},"es":{"name":"Enfermedad inflamatoria intestinal del lactante con afectación neurológica","definition":"Es una enfermedad de base genética poco frecuente caracterizada por el inicio en la lactancia de una enfermedad inflamatoria intestinal grave que se manifiesta como diarrea sanguinolenta y fallo de medro, y enfermedades del sistema nervioso central junto con retraso global del desarrollo y regresión, trastornos del habla, hipotonía, hiperreflexia y epilepsia. La neuroimagen muestra atrofia cerebral global, adelgazamiento del cuerpo calloso, retraso en la mielinización y leucoencefalopatía posterior. Se han descrito casos con infecciones recurrentes y alteración de la respuesta de las celulas T a la estimulación, así como una disminución de los subconjuntos de células T."},"it":{"name":"Malattia infiammatoria intestinale infantile con coinvolgimento neurologico","definition":"Si tratta di una malattia genetica rara, caratterizzata da una grave malattia infiammatoria intestinale ad esordio infantile che si manifesta con diarrea emorragica, ritardo della crescita e anomalie del sistema nervoso centrale (ritardo e regressione dello sviluppo globale, compromissione del linguaggio, ipotonia, iperreflessia ed epilessia). Le neuroimmagini mostrano una atrofia cerebrale generalizzata, l'assottigliamento del corpo calloso, il ritardo nella mielinizzazione e leucoencefalopatia posteriore. Sono stati descritti pazienti con infezioni ricorrenti, compromissione della risposta dei linfociti T alla stimolazione, e riduzione delle sottopopolazioni dei linfociti T."},"nl":{"name":"Infantiele inflammatoire darmziekte met neurologische betrokkenheid","definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door infantiele aanvang van ernstige inflammatoire darmziekte die zich manifesteert met bloederige diarree en groeifalen, en aandoening van centraal zenuwstelsel met algehele ontwikkelingsachterstand en regressie, spraakstoornis, hypotonie, hyperreflexie, en epilepsie. Beeldvorming van hersenen toont globale cerebrale atrofie, dun corpus callosum, vertraagde myelinisatie, en posterieure leuko-encefalopathie. Gevallen met recidiverende infecties en verstoorde respons van T-cellen op stimulatie, alsook verminderd aantal subgroepen van T-cellen, werden ook reeds gerapporteerd."},"pt":{"name":"Doença inflamatória do intestino da infância com envolvimento neurológico"},"pl":{"name":"Niemowlęce zapalenie jelita z objawami neurologicznymi"},"cs":{"name":"Zánětlivé onemocnění střev s neurologickým postižením v dětském věku"},"uk":{"name":"Дитяча запальна хвороба кишечника з неврологічними проявами","definition":"A rare genetic disease characterized by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leukoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported."},"zh":{"name":"神经系统受累的婴儿炎症性肠病"},"tr":{"name":"Nörolojik tutulum ile seyreden infantil inflamatuar bağırsak hastalığı"}},"xrefs":[{"source":"OMIM","code":"618213","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DD7Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0032601","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568565","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":529974,"name":"Immune dysregulation with inflammatory bowel disease","classifications":[152,156,195,233]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TGFB1","name":"transforming growth factor beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29483653[PMID]","hgnc":"11766","ensembl":"ENSG00000105329","omim":"190180","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"29483653[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29483653[PMID]"}],"phenotypes":null}