{"orpha":714481,"name":"SCGN-related severe early-onset hereditary ulcerative colitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714481/","orphanet_url":"https://www.orpha.net/en/disease/detail/714481","names":{"fr":{"name":"Colite ulcéreuse héréditaire sévère précoce associée à SCGN"},"de":{"name":"SCGN-assoziierte schwere früh einsetzende hereditäre Colitis ulcerosa"},"es":{"name":"Colitis ulcerosa hereditaria grave asociada a SCGN de inicio precoz"},"it":{"name":"Colite ulcerosa ereditaria grave ad esordio precoce correlata a SCGN"},"nl":{"name":"SCGN-gerelateerde ernstige vroeg optredende hereditaire colitis ulcerosa","synonyms":["SCGN-gerelateerde ernstige erfelijke ulceratieve colitis met vroeg begin"]},"pt":{"name":"SCGN-related severe early-onset hereditary ulcerative colitis"},"pl":{"name":"Ciężkie, dziedziczne wrzodziejące zapalenie jelita grubego o wczesnym początku związane z SCGN"},"cs":{"name":"SCGN-related severe early-onset hereditary ulcerative colitis"}},"xrefs":[{"source":"ICD-10","code":"K51.8","qualifier":"NTBT","icd_relation":"attributed","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":"SCGN","name":"secretagogin, EF-hand calcium binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31663849[PMID]","hgnc":"16941","ensembl":"ENSG00000079689","omim":"609202","loci":["6p22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"31663849[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"31663849[PMID]_ORPHANET"}],"phenotypes":null}