{"orpha":247798,"name":"MUTYH-related polyposis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MUTYH-related adenomatous polyposis"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-247798/","orphanet_url":"https://www.orpha.net/en/disease/detail/247798","names":{"fr":{"name":"Polypose associée à MUTYH","synonyms":["Polypose adénomateuse associée à MUTYH"]},"de":{"name":"MUTYH-assoziierte Polyposis","synonyms":["MUTYH-abhängige AFAP","MUTYH-abhängige FAP","MUTYH-abhängige adenomatöse Polyposis"]},"es":{"name":"Poliposis asociada a MUTYH","synonyms":["Poliposis adenomatosa asociada a MUTYH"]},"it":{"name":"Poliposi adenomatosa familiare attenuata legata a MUTYH","synonyms":["AFAP legata a MUTYH","FAP attenuata legata a MUTYH","Poliposi rettocolica familiare attenuata legata a MUTYH"]},"nl":{"name":"MUTYH-gerelateerde polyposis","synonyms":["MUTYH-gerelateerde adenomateuze polyposis"]},"pt":{"name":"Polipose MUTYH-relacionada","synonyms":["Polipose adenomatosa MUTYH-relacionada"]},"pl":{"name":"Postać poronna rodzinnej polipowatości gruczolakowatej związana MUTYH","synonyms":["AFAP związana z MUTYH","Poronna postać FAP związana z MUTYH","Postać poronna rodzinnej polipowatości jelita grubego związana z MUTYH"]},"cs":{"name":"MUTYCH vázaná atenuovaná familiární adenomatózní polypóza","synonyms":["AFAP spojená s mutací genu MUTYH","Atenuovaná FAP spojená s mutací genu MUTYH","Atenuovaná familiární polypóza tlustého střeva spojená s mutací genu MUTYH"]},"uk":{"name":"Атенуйований сімейний аденоматозний поліпоз, повязаний з MUTYH","synonyms":["AFAP, повязана з MUTYH","Атенуйований сімейний поліпозний коліт, повязаний з MUTYH","Атенуйований ФАП, повязаний з MUTYH"]},"zh":{"name":"MUTYH基因相关轻型家族性腺瘤性息肉病","synonyms":["MUTYH基因相关轻型家族性息肉病"]},"tr":{"name":"MUTYH-ilişkili zayıflatılmış ailesel adenomatöz polipoz","synonyms":["MUTYH-ilişkili AFAP","MUTYH-ilişkili zayıflatılmış FAP","MUTYH-ilişkili zayıflatılmış ailesel polipoz koli"]}},"xrefs":[{"source":"OMIM","code":"608456","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D12.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B90.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0012041","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563924","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3272841","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10805","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":104010,"name":"Intestinal polyposis syndrome","classifications":[152,156,202,233]}],"children":[],"genes":[{"symbol":"MUTYH","name":"mutY DNA glycosylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17489848[PMID]","hgnc":"7527","ensembl":"ENSG00000132781","omim":"604933","loci":["1p34.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-09","source":"12606733[PMID]","terms":[{"hpo":"HP:0200063","label":"Colorectal polyposis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040276","label":"Adenocarcinoma of the colon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005227","label":"Adenomatous colonic polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030255","label":"Large intestinal polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100896","label":"Rectal polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007649","label":"Congenital hypertrophy of retinal pigment epithelium","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100245","label":"Desmoid tumors","frequency":"Excluded (0%)","criteria":null}]}}