{"orpha":468641,"name":"Chronic enteropathy associated with SLCO2A1 gene","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CEAS"],"definition":"A rare genetic gastroenterological disease characterized by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anemia, fatigue, edema, and diarrhea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-468641/","orphanet_url":"https://www.orpha.net/en/disease/detail/468641","names":{"fr":{"name":"Entéropathie chronique associée au SLCO2A1","synonyms":["CEAS"],"definition":"Maladie gastroentérologique rare caractérisée par la présence de multiples ulcères persistants et réfractaires de l'intestin grêle, à l'origine d'une perte chronique de sang et de protéines. Les signes cliniques et les symptômes sont notamment des douleurs abdominales, l'anémie, la fatigue, l'oedème et la diarrhée. La maladie se manifeste morphologiquement par de multiples lésions peu profondes et nettement délimitées, de forme irrégulière circulaire ou linéaire."},"de":{"name":"Enteropathie, chronische, SLCO2A1-Gen-assoziierte","synonyms":["CEAS"],"definition":"Eine seltene genetisch bedingte gastroenterologische Erkrankung, die durch das Vorhandensein mehrerer persistierender, hartnäckiger Dünndarmgeschwüre gekennzeichnet ist, die zu chronischem Blut- und Proteinverlust führen. Zu den Anzeichen und Symptomen gehören Bauchschmerzen, Anämie, Müdigkeit, Ödeme und Durchfall. Morphologisch äußert sich die Erkrankung durch multiple, scharf abgegrenzte, flache Läsionen mit unregelmäßiger kreisförmiger oder linearer Form."},"es":{"name":"Enteropatía crónica asociada al gen SLCO2A1","synonyms":["CEAS"],"definition":"Es una enfermedad gastroenterológica de origen genético poco frecuente caracterizada por la presencia de múltiples úlceras persistentes e intratables en el intestino delgado, provocando una pérdida crónica de sangre y proteínas. Los signos y síntomas incluyen dolor abdominal, anemia, cansancio, edema y diarrea. Morfológicamente, el trastorno se manifiesta con múltiples lesiones superficiales claramente delimitadas de forma irregular circular o lineal."},"it":{"name":"Enteropatia cronica associata al gene SLCO2A1","definition":"Si tratta di una malattia gastroenterologica genetica rara, caratterizzata da ulcere multiple persistenti e non trattabili localizzate nell'intestino tenue, che causano emorragie croniche e perdita di proteine. I segni clinici comprendono il dolore addominale, l'anemia, l'affaticamento, l'edema e la diarrea. Dal punto di vista morfologico, la malattia si manifesta con lesioni superficiali multiple ben demarcate di forma irregolarmente circolare o lineare."},"nl":{"name":"Chronische enteropathie geassocieerd met SLCO2A1-gen","synonyms":["CEAS"],"definition":"Een zeldzame, genetische gastro-enterologische aandoening, gekarakteriseerd door de aanwezigheid van multipele persisterende, refractaire ulcera van dunne darm, wat leidt tot chronisch bloed- en eiwitverlies. Verschijnselen en symptomen zijn onder meer abdominale pijn, anemie, vermoeidheid, oedeem, an diarree. Morfologisch manifesteert de aandoening zich met meervoudige scherp begrensde, ondiepe laesies met een onregelmatige circulaire of lineaire vorm."},"pt":{"name":"Enteropatia crónica associada ao gene SLC2A1"},"pl":{"name":"Przewlekła enteropatia związana z genem SLCO2A1","synonyms":["CEAS"]},"cs":{"name":"Chronická enteropatie asociovaná s genem SLCO2A1","synonyms":["CEAS"]},"uk":{"name":"Хронічна ентеропатія, асоційована з геном SLCO2A1","synonyms":["CEAS"],"definition":"A rare genetic gastroenterological disease characterized by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anemia, fatigue, edema, and diarrhea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape."},"zh":{"name":"SLCO2A1相关慢性肠病","synonyms":["CEAS"]},"tr":{"name":"SLCO2A1 geni ilişkili kronik enteropati","synonyms":["CEAS"]}},"xrefs":[{"source":"ICD-10","code":"K63.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA94.01","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1318914383"},{"source":"MONDO","code":"0018766","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568838","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":"SLCO2A1","name":"solute carrier organic anion transporter family member 2A1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26539716[PMID]","hgnc":"10955","ensembl":"ENSG00000174640","omim":"601460","loci":["3q22.1-q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"26539716[PMID]_17709045[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24035666[PMID]_23268370[PMID]_25708899[PMID]_26539716[PMID]_17709045[PMID]"}],"phenotypes":null}