{"orpha":454840,"name":"NTHL1-related polyposis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NTHL1-related adenomatous polyposis"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-454840/","orphanet_url":"https://www.orpha.net/en/disease/detail/454840","names":{"fr":{"name":"Polypose associée à NTHL1","synonyms":["Polypose adénomateuse associée à NTHL1"]},"de":{"name":"NTHL1-assoziierte Polyposis","synonyms":["NTHL1-abhängige adenomatöse Polyposis"]},"es":{"name":"Poliposis asociada a NTHL1","synonyms":["Poliposis adenomatosa asociada a NTHL1"]},"it":{"name":"Poliposi adenomatosa familiare attenuata NTHL1-correlata"},"nl":{"name":"NTHL1-gerelateerde polyposis","synonyms":["NTHL1-gerelateerde adenomateuze polyposis"]},"pt":{"name":"Polipose NTHL1-relacionada","synonyms":["Polipose adenomatosa NTHL1-relacionada"]},"pl":{"name":"Poronna rodzinna polipowatość gruczolakowata zależna od NTHL1","synonyms":["NTHL1-related adenomatous polyposis"]},"cs":{"name":"NTHL1-vázaná atenuovaná familiární adenomatózní polypóza","synonyms":["NTHL1-vázaná AFAP"]},"uk":{"name":"Помірний сімейний аденоматозний поліпоз, повязаний з NTHL1","synonyms":["AFAP, повязаний з NTHL1","NTHL1-асоційований ослаблений ФАП"]},"zh":{"name":"NTHL1相关性减毒家族性腺瘤性息肉病","synonyms":["NTHL1相关减毒性 FAP"]},"tr":{"name":"NTHL1-ilişkili zayıflatılmış ailesel adenomatöz polipoz","synonyms":["NTHL1-ilişkili AFAP","NTHL1-ilişkili zayıflatılmış FAP"]}},"xrefs":[{"source":"OMIM","code":"616415","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D12.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014630","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225157","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":"NTHL1","name":"nth like DNA glycosylase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25938944[PMID]_26559593[PMID]","hgnc":"8028","ensembl":"ENSG00000065057","omim":"602656","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult","Elderly"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-12-17","source":"25938944[PMID]_26559593[PMID]","terms":[{"hpo":"HP:0005227","label":"Adenomatous colonic polyposis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009725","label":"Bladder neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003002","label":"Breast carcinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003003","label":"Colon cancer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012114","label":"Endometrial carcinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002858","label":"Meningioma","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:0002671","label":"Basal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006771","label":"Duodenal adenocarcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012539","label":"Non-Hodgkin lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000138","label":"Ovarian cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006725","label":"Pancreatic adenocarcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031287","label":"Seborrheic keratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Occasional (29-5%)","criteria":null}]}}