{"orpha":401911,"name":"AXIN2-related polyposis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AXIN2-related adenomatous polyposis"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-401911/","orphanet_url":"https://www.orpha.net/en/disease/detail/401911","names":{"fr":{"name":"Polypose associée à AXIN2","synonyms":["Polypose adénomateuse associée à AXIN2"]},"de":{"name":"AXIN2-assoziierte Polyposis","synonyms":["AXIN2-abhängige adenomatöse Polyposis"]},"es":{"name":"Poliposis asociada a AXIN2","synonyms":["Poliposis adenomatosa asociada a AXIN2"]},"it":{"name":"Poliposi adenomatosa familiare attenuata legata a AXIN2","synonyms":["AFAP AXIN2-correlata","FAP attenuata AXIN2-correlata","Poliposi del colon familiare attenuata AXIN2-correlata"]},"nl":{"name":"AXIN2-gerelateerde polyposis","synonyms":["AXIN2-gerelateerde adenomateuze polyposis"]},"pt":{"name":"Polipose AXIN2-relacionada","synonyms":["Polipose adenomatosa AXIN2-relacionada"]},"pl":{"name":"Atenuowana rodzinna polipowatość gruczolakowata związana z AXIN2","synonyms":["AFAP związana z AXIN2","Atenuowana FAP związana z AXIN2","Atenuowana rodzinna polipowatość jelit związana z AXIN2"]},"cs":{"name":"AXIN2-vázaná atenuovaná familiární adenomatózní polypóza","synonyms":["AXIN2-vázaná AFAP","AXIN2-vázaná atenuovaná FAP","AXIN2-vázaná atenuovaná familiární polypóza tlustého střeva"]},"uk":{"name":"Помірний сімейний аденоматозний поліпоз, повязаний з AXIN2","synonyms":["AFAP, повязаний з AXIN2","Атенуйований сімейний кишковий поліпоз, повязаний з AXIN2","AXIN2-залежний ослаблений FAP"]},"zh":{"name":"AXIN2相关性家族性腺瘤性息肉病","synonyms":["AXIN2基因相关衰减型家族性结肠息肉病"]},"tr":{"name":"AXIN2-ilişkili zayıflatılmış ailesel adenomatöz polipoz","synonyms":["AXIN2-ilişkili AFAP","AXIN2-ilişkili zayıflatılmış FAP","AXIN2-ilişkili zayıflatılmış ailesel polipoz koli"]}},"xrefs":[{"source":"OMIM","code":"608615","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":"0018426","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680012","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":300576,"name":"Oligodontia-cancer predisposition syndrome","status":"inactive"}],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":104010,"name":"Intestinal polyposis syndrome","classifications":[152,156,202,233]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]}],"children":[],"genes":[{"symbol":"AXIN2","name":"axin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23838596[PMID]","hgnc":"904","ensembl":"ENSG00000168646","omim":"604025","loci":["17q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"23838596[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23838596[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-14","source":"23838596[PMID]_11017067[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:0003003","label":"Colon cancer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100743","label":"Neoplasm of the rectum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:3000050","label":"Abnormality of odontoid tissue","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000968","label":"Ectodermal dysplasia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Excluded (0%)","criteria":null}]}}