{"orpha":480536,"name":"MSH3-related polyposis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MSH3-related adenomatous polyposis"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-480536/","orphanet_url":"https://www.orpha.net/en/disease/detail/480536","names":{"fr":{"name":"Polypose associée à MSH3","synonyms":["Polypose adénomateuse associée à MSH3"]},"de":{"name":"MSH3-assoziierte Polyposis","synonyms":["MSH3-abhängige adenomatöse Polyposis"]},"es":{"name":"Poliposis asociada a MSH3","synonyms":["Poliposis adenomatosa asociada a MSH3"]},"it":{"name":"Poliposi adenomatosa familiare attenuata correlata a MSH3"},"nl":{"name":"MSH3-gerelateerde polyposis","synonyms":["MSH3-gerelateerde adenomateuze polyposis"]},"pt":{"name":"Polipose MSH3-relacionada","synonyms":["Polipose adenomatosa MSH3-relacionada"]},"pl":{"name":"Rodzinna atenuowana polipowatość gruczolakowata zależna od MSH3","synonyms":["AFAP zależna od MSH3","Atenuowana AFAP zależna od MSH3","Rodzinna atenuowana polipowatość zależna od MSH3"]},"cs":{"name":"MSH3-vázaná atenuovaná familiární adenomatózní polypóza","synonyms":["MSH3-related AFAP","MSH3-related attenuated FAP","MSH3-related attenuated familial polyposis coli","MSH3-vázaná AFAP","MSH3-vázaná atenuovaná FAP","MSH3-vázaná atenuovaná familiární polyposis coli"]},"uk":{"name":"Помірний сімейний аденоматозний поліпоз, повязаний з MSH3","synonyms":["AFAP, повязана з MSH3","MSH3-асоційований атенуйований сімейний поліпозний кишковий паличкоподібний грибок","MSH3-залежний ослаблений FAP"]},"zh":{"name":"MSH3相关家族性腺瘤性息肉病","synonyms":["MSH3相关家族性结肠息肉病"]},"tr":{"name":"MSH3 -ilişkili zayıflatılmış ailesel adenomatöz polipoz","synonyms":["MSH3-ilişkili AFAP","MSH3-ilişkili attenuated FAP","MSH3-ilişkili zayıflatılmış ailesel polipoz koli"]}},"xrefs":[{"source":"OMIM","code":"617100","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":"0018812","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18812","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"44300","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4310719","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":"MSH3","name":"mutS homolog 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27476653[PMID]","hgnc":"7326","ensembl":"ENSG00000113318","omim":"600887","loci":["5q14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"27476653[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27476653[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-17","source":"27476653[PMID]","terms":[{"hpo":"HP:0005227","label":"Adenomatous colonic polyposis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200063","label":"Colorectal polyposis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004784","label":"Juvenile gastrointestinal polyposis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009592","label":"Astrocytoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003003","label":"Colon cancer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004394","label":"Multiple gastric polyps","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100743","label":"Neoplasm of the rectum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012740","label":"Papilloma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012126","label":"Stomach cancer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000854","label":"Thyroid adenoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000131","label":"Uterine leiomyoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025274","label":"Ovarian dermoid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Occasional (29-5%)","criteria":null}]}}