{"orpha":447877,"name":"Polymerase proofreading-related polyposis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PPAP","Polymerase proofreading-related adenomatous polyposis"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-447877/","orphanet_url":"https://www.orpha.net/en/disease/detail/447877","names":{"fr":{"name":"Polypose associée aux ADN polymérases","synonyms":["PPAP","Polypose adénomateuse associée aux ADN polymérases"]},"de":{"name":"Polymerase-Proofreading-assoziierte Polyposis","synonyms":["PPAP","Polymerase-Proofreading-abhängige adenomatöse Polyposis"]},"es":{"name":"Poliposis asociada a la lectura de prueba de la polimerasa","synonyms":["PPAP","Poliposis adenomatosa asociada a la lectura de prueba de la polimerasa"]},"it":{"name":"Poliposi adenomatosa associata all'attivit di ''correzione delle bozze'' della polimerasi","synonyms":["PPAP"]},"nl":{"name":"Polymerase-proofreading-gerelateerde polyposis","synonyms":["PPAP","Polymerase-proofreading-gerelateerde adenomateuze polyposis"]},"pt":{"name":"Polipose relacionada com a polimerase de revisão","synonyms":["PPAP","Polipose adenomatosa relacionada com a polimerase de revisão"]},"pl":{"name":"Polipowatość gruczolakowata związana z polimerazą \"proofreading","synonyms":["PPAP"]},"cs":{"name":"Syndrom PAPP","synonyms":["PPAP","Adenomatózní polypóza spojená s poruchou \"proofreading\" polymeráz"]},"uk":{"name":"Аденоматозний поліпоз, повязаний з коригуванням полімерази","synonyms":["PPAP"]},"zh":{"name":"聚合酶校对相关腺瘤性息肉病","synonyms":["PPAP"]},"tr":{"name":"Polimeraz hata okuması-ilişkili adenomatöz polipoz","synonyms":["PPAP"]}},"xrefs":[{"source":"OMIM","code":"612591","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615083","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D12.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018653","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5202613","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":"POLD1","name":"DNA polymerase delta 1, catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23263490[PMID]","hgnc":"9175","ensembl":"ENSG00000062822","omim":"174761","loci":["19q13.33"]},{"symbol":"POLE","name":"DNA polymerase epsilon, catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23263490[PMID]","hgnc":"9177","ensembl":"ENSG00000177084","omim":"174762","loci":["12q24.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-19","source":"26133394[PMID]_25370038[PMID]_24501277[PMID]_23263490[PMID]_23447401[PMID]","terms":[{"hpo":"HP:0005227","label":"Adenomatous colonic polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200063","label":"Colorectal polyposis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012114","label":"Endometrial carcinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040276","label":"Adenocarcinoma of the colon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030692","label":"Brain neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100743","label":"Neoplasm of the rectum","frequency":"Occasional (29-5%)","criteria":null}]}}