{"orpha":157798,"name":"Serrated polyposis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hyperplastic polyposis syndrome"],"definition":"A rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-157798/","orphanet_url":"https://www.orpha.net/en/disease/detail/157798","names":{"fr":{"name":"Syndrome de polypose dentelée","synonyms":["Polypose hyperplasique"],"definition":"La polypose hyperplasique est une maladie génétique intestinale rare caractérisée par la présence de multiples polypes colorectaux (habituellement larges) hyperplasiques/dentelés, ayant généralement une distribution pancolique. Les analyses histologiques révèlent des polypes hyperplasiques, des adénomes sessiles dentelés (le plus souvent), des adénomes traditionnellement dentelés ou des polypes mixtes. La polypose hyperplasique est associée à un risque personnel et familial (membres de la famille au premier degré) accru de développer un cancer colorectal."},"de":{"name":"Serratiertes Polyposis-Syndrom","synonyms":["Polyposis-Syndrom, hyperplastisches"],"definition":"Eine seltene genetische Darmerkrankung, die durch das Vorhandensein von multiplen (in der Regel großen) hyperplastischen/gezackten kolorektalen Polypen gekennzeichnet ist, meist mit pankolonischer Verteilung. Die Histologie zeigt hyperplastische Polypen, sessile serrierte Adenome (am häufigsten), traditionelle serrierte Adenome oder gemischte Polypen. Es ist mit einem erhöhten persönlichen und familiären (Verwandte ersten Grades) Risiko für kolorektales Karzinom verbunden."},"es":{"name":"Síndrome de poliposis serrada","synonyms":["Síndrome de poliposis hiperplásica"],"definition":"Es una enfermedad intestinal genética y poco frecuente que se caracteriza por la presencia de múltiples pólipos colorrectales hiperplásicos/serrados (generalmente grandes), de distribución habitualmente pancolónica. La histología revela pólipos hiperplásicos, adenomas serrados sésiles (los más comunes), adenomas serrados tradicionales o pólipos mixtos. Se asocia con un mayor riesgo individual y familiar (parientes de primer grado) de cáncer colorrectal."},"it":{"name":"Sindrome da poliposi iperplastica","synonyms":["Poliposi serrata"],"definition":"La sindrome da polipi iperplastici è una malattia intestinale genetica rara, caratterizzata dalla presenza di polipi colorettali multipli iperplastici/serrati, di solito grandi, a distribuzione generalizzata. L'esame istologico evidenzia la presenza di polipi iperplastici, adenomi serrati sessili (i più comuni), adenomi serrati tradizionali o polipi misti. La malattia si associa ad un rischio soggettivo e familiare (nei consanguinei di primo grado) aumentato di cancro colon-rettale."},"nl":{"name":"Gekartelde polyposis-syndroom","synonyms":["Zaagtand-polyposis","Hyperplastische polyposis-syndroom"],"definition":"Hyperplastische polyposissyndroom is een zeldzame, genetische darmziekte die gekarakteriseerd wordt door de aanwezigheid van meerdere (meestal grote) hyperplastische/gekartelde colorectale poliepen, meestal verdeeld over het hele colon. Histologie toont hyperplastische poliepen, sessiele gekartelde adenomen (meest voorkomend), traditionele gekartelde adenomen of gemengde poliepen. Het is geassocieerd met een verhoogd persoonlijk en familiaal (eerstegraadsverwanten) risico op colorectale kanker."},"pt":{"name":"Síndrome com polipose hiperplástica"},"pl":{"name":"Zespół polipowatości hiperplastycznej","synonyms":["Polipowatość ząbkowana"]},"cs":{"name":"Polypózní syndrom s hyperplastickými polypy","synonyms":["Serátní polypóza"]},"uk":{"name":"Синдром зубчастого поліпозу","synonyms":["Синдром гіперпластичного поліпозу"],"definition":"A rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer."},"zh":{"name":"增生性息肉综合征","synonyms":["锯齿状息肉病"],"definition":"增生性息肉综合征是一种罕见的遗传性肠道疾病，其特征是多发（常较大）增生性/锯齿状结肠直肠息肉，常伴全结肠分布。组织学表现有增生性息肉，无柄锯齿状腺瘤（最常见），传统锯齿状腺瘤或混合性息肉。该病与个人和家庭（一级亲属）患结直肠癌风险增加有关。"},"tr":{"name":"Hiperplastik polipoz sendromu","synonyms":["Tırtıklı polipoz"]}},"xrefs":[{"source":"OMIM","code":"617108","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D12.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2E92.40","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1344352020"},{"source":"MONDO","code":"0015524","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4296896","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10085922","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":363314,"name":"Genetic intestinal polyposis","classifications":[156]},{"orpha":104010,"name":"Intestinal polyposis syndrome","classifications":[152,156,202,233]}],"children":[],"genes":[{"symbol":"RNF43","name":"ring finger protein 43","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27081527[PMID]","hgnc":"18505","ensembl":"ENSG00000108375","omim":"612482","loci":["17q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Multigenic/multifactorial","Unknown"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Worldwide","status":"Not yet validated","source":"22851664[PMID]_21636642[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-09","source":"24512911[PMID]_27081527[PMID]_1645228[PMID]_7463029[PMID]","terms":[{"hpo":"HP:0200063","label":"Colorectal polyposis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005227","label":"Adenomatous colonic polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100808","label":"Gastric diverticulum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100834","label":"Neoplasm of the large intestine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100574","label":"Biliary tract neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002862","label":"Bladder carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100728","label":"Germ cell neoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012189","label":"Hodgkin lymphoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100615","label":"Ovarian neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006725","label":"Pancreatic adenocarcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012125","label":"Prostate cancer","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100008","label":"Schwannoma","frequency":"Very rare (<4-1%)","criteria":null}]}}