{"orpha":157794,"name":"Hereditary mixed polyposis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HMPS"],"definition":"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-157794/","orphanet_url":"https://www.orpha.net/en/disease/detail/157794","names":{"fr":{"name":"Polypose mixte héréditaire","definition":"Maladie du gros intestin transmise sur le mode autosomique dominant, caractérisée par la présence d'un mélange de polypes hyperplasiques, juvéniles atypiques et adénomateux, associés à un risque accru de développer un cancer colorectal s'ils ne sont pas traités."},"de":{"name":"Polyposis-Syndrom, gemischtes, hereditäres","synonyms":["HMPS"],"definition":"Das Hereditäre gemischte Polyposis-Syndrom (HMPS), ein autosomal-dominant vererbtes Krankheitsbild des Dickdarms, ist gekennzeichnet durch eine Mischung von hyperplastischen, atypisch juvenilen und adenomatösen Polypen, die unbehandelt ein erhöhtes Risiko für die Entwicklung kolorektaler Karzinome tragen."},"es":{"name":"Síndrome de poliposis mixta hereditaria","synonyms":["HMPS"],"definition":"El síndrome de poliposis mixta hereditaria (HMPS) describe una enfermedad hereditaria autosómica dominante del intestino grueso que se caracteriza por la presencia de una mezcla de pólipos hiperplásicos, juveniles atípicos y adenomatosos que están asociados con un incremento del riesgo de desarrollar cáncer colorrectal si no son tratados."},"it":{"name":"Sindrome ereditaria da poliposi mista","synonyms":["HMPS"],"definition":"La sindrome ereditaria da poliposi mista (HMPS) è una malattia dell'intestino crasso a trasmissione autosomica dominante caratterizzata dalla presenza di polipi adenomatosi iperplastici atipici giovanili, che si associano a un rischio maggiore di sviluppare il cancro colorettale, in assenza di trattamento."},"nl":{"name":"Erfelijk gemengde polyposis-syndroom","synonyms":["HMPS"],"definition":"Een autosomaal dominant overgeërfde aandoening van dikke darm, gekenmerkt door aanwezigheid van een mengeling van hyperplastische, atypische juveniele en adenomateuze poliepen die zijn geassocieerd met een verhoogd risico op ontwikkeling van colorectale kanker indien ze niet behandeld worden."},"pt":{"name":"Síndrome com polipose mista, hereditário"},"pl":{"name":"Dziedziczny zespół polipowatości mieszanej","synonyms":["HMPS"]},"cs":{"name":"Hereditární polypózní syndrom se smíšenými polypy","synonyms":["HMPS"]},"uk":{"name":"Спадковий синдром змішаного поліпозу","synonyms":["HMPS"],"definition":"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated."},"zh":{"name":"遗传性混合性息肉病综合征","synonyms":["HMPS"],"definition":"遗传性混合性息肉综合征（HMPS）是一种常染色体显性遗传大肠疾病，其特征是存在增生性、非典型幼年性和腺瘤性息肉混合物，若不治疗，则会增加患结直肠癌的风险。"},"tr":{"name":"Kalıtsal karma polipoz sendromu","synonyms":["HMPS"]}},"xrefs":[{"source":"OMIM","code":"601228","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"610069","qualifier":"BTNT","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":"219068911"},{"source":"MONDO","code":"0011023","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5192681","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":"BMPR1A","name":"bone morphogenetic protein receptor type 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16525031[PMID]","hgnc":"1076","ensembl":"ENSG00000107779","omim":"601299","loci":["10q23.2"]},{"symbol":"GREM1","name":"gremlin 1, DAN family BMP antagonist","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22561515[PMID]","hgnc":"2001","ensembl":"ENSG00000166923","omim":"603054","loci":["15q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"16525031[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"16525031[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-09","source":"28242209[PMID]_26600934[PMID]_27984123[PMID]_8644741[PMID]_10092300[PMID]_16525031[PMID]","terms":[{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002573","label":"Hematochezia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012183","label":"Hyperplastic colonic polyposis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005227","label":"Adenomatous colonic polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003003","label":"Colon cancer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200063","label":"Colorectal polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012198","label":"Juvenile colonic polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007378","label":"Neoplasm of the gastrointestinal tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100896","label":"Rectal polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005505","label":"Refractory anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040276","label":"Adenocarcinoma of the colon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002576","label":"Intussusception","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100743","label":"Neoplasm of the rectum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100245","label":"Desmoid tumors","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006771","label":"Duodenal adenocarcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012114","label":"Endometrial carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012125","label":"Prostate cancer","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002890","label":"Thyroid carcinoma","frequency":"Very rare (<4-1%)","criteria":null}]}}