{"orpha":597887,"name":"ALPI-related inflammatory bowel disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic gastroenterological disease characterized by severe, refractory intestinal inflammation with mucosal erosions and ulcerations potentially involving the small and large intestine. Epithelioid granulomas are typically absent. Patients present with severe diarrhea, abdominal pain, vomiting, rectal bleeding, and weight loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-597887/","orphanet_url":"https://www.orpha.net/en/disease/detail/597887","names":{"fr":{"name":"Maladie inflammatoire de l'intestin associée à ALPI","definition":"Maladie gastroentérologique rare, d'origine génétique, caractérisée par une inflammation intestinale réfractaire sévère avec érosions et ulcérations des muqueuses, pouvant affecter le gros intestin et l'intestin grêle. Les granulomes épithélioïdes sont généralement absents. Les patients présentent une diarrhée sévère, des douleurs abdominales, des vomissements, des saignements rectaux et une perte de poids."},"de":{"name":"Darmerkrankung, chronisch-entzündliche, ALPI-assoziierte","definition":"Eine seltene gastroenterologische Erkrankung, die durch eine schwere, therapieresistente Darmentzündung mit Schleimhauterosionen und -ulzerationen gekennzeichnet ist, die möglicherweise den Dünn- und Dickdarm betreffen. Epitheloidzellgranulome fehlen in der Regel. Die Patienten leiden unter schwerem Durchfall, Bauchschmerzen, Erbrechen, rektalen Blutungen und Gewichtsverlust."},"es":{"name":"Enfermedad inflamatoria intestinal asociada al gen ALPI","definition":"Es una enfermedad digestiva poco frecuente de origen genético caracterizada por una inflamación intestinal grave y refractaria con erosiones y ulceraciones de la mucosa que pueden afectar tanto al intestino delgado como al grueso. Suele asociar granulomas epitelioides. Los pacientes presentan diarrea intensa, dolor abdominal, vómitos, hemorragia rectal y pérdida de peso."},"it":{"name":"Malattia infiammatoria intestinale correlata ad ALPI"},"nl":{"name":"ALPI-gerelateerde inflammatoire darmziekte","definition":"Een zeldzame, genetische gastro-enterologische aandoening, gekenmerkt door ernstige, refractaire darmontsteking met erosie en ulceratie van mucosa en potentieel betrokkenheid van dikke en dunne darm. Epithelioïd granuloom is doorgaans afwezig. Patiënten presenteren zich met ernstige diarree, abdominale pijn, braken, rectaal bloedverlies, en gewichtsverlies."},"pt":{"name":"Doença inflamatória do intestino ALPI-relacionada","definition":"Doença gastroenterológica genética rara caracterizada por inflamação intestinal grave e refratária, com erosões e ulcerações da mucosa, podendo envolver o intestino delgado e grosso. Granulomas epitelioides estão geralmente ausentes. Os doentes apresentam diarreia intensa, dor abdominal, vómitos, hemorragia retal e perda de peso."},"pl":{"name":"Zapalna choroba jelit zwiazana z ALPI","definition":"Rzadka genetycznie uwarunkowana choroba układu pokarmowego charakteryzująca się ciężkim, opornym na leczenie zapaleniem jelit z nadżerkami i owrzodzeniami błony śluzowej, potencjalnie obejmującymi jelito cienkie i grube. Ziarniniaki nabłonkowe zazwyczaj nie występują. W obrazie klinicznym obserwuje się ciężką biegunkę, ból brzucha, wymioty, krwawienie z odbytu i utratę masy ciała."},"cs":{"name":"Zánětlivé onemocnění střev související s ALPI"},"uk":{"name":"Запальні захворювання кишечника, повязані з ALPI","definition":"A rare genetic gastroenterological disease characterized by severe, refractory intestinal inflammation with mucosal erosions and ulcerations potentially involving the small and large intestine. Epithelioid granulomas are typically absent. Patients present with severe diarrhea, abdominal pain, vomiting, rectal bleeding, and weight loss."},"zh":{"name":"ALPI-related inflammatory bowel disease"},"tr":{"name":"ALPI-related inflammatory bowel disease"}},"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":"0035370","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681586","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":"ALPI","name":"alkaline phosphatase, intestinal","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29567797[PMID]","hgnc":"437","ensembl":"ENSG00000163295","omim":"171740","loci":["2q37.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"29567797[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29567797[PMID]_ORPHANET"}],"phenotypes":null}