{"orpha":211,"name":"Familial cylindromatosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Turban tumor syndrome"],"definition":null,"note":"This disease is described under Brooke-Spiegler syndrome","url":"https://raremap.alftech.space/d/ORPHA-211/","orphanet_url":"https://www.orpha.net/en/disease/detail/211","names":{"fr":{"name":"Cylindromatose familiale","synonyms":["Syndrome de tumeur en turban"]},"de":{"name":"Zylindromatose, familiäre","synonyms":["Turban-Tumor-Syndrom"]},"es":{"name":"Cilindromatosis de Poncet-Spiegler"},"it":{"name":"Cilindromatosi familiare","synonyms":["Sindrome del tumore a turbante"]},"nl":{"name":"Familiale cylindromatose","synonyms":["Turbantumor-syndroom","Turbantumorsyndroom"]},"pt":{"name":"Cilindromatose familiar","synonyms":["Síndrome tumor Turban"]},"pl":{"name":"Cylindromatoza rodzinna","synonyms":["Zespół guzów turbanowych"]},"cs":{"name":"Familiární cylindromatóza","synonyms":["Syndrom turbanovitých tumorů"]},"uk":{"name":"Сімейний циліндроматоз","synonyms":["Синдром пухлини тюрбану"]},"zh":{"name":"家族性圆柱瘤病","synonyms":["头巾状瘤综合征"]},"tr":{"name":"Ailesel silindromatoz","synonyms":["Türban tümör sendromu"]}},"xrefs":[{"source":"OMIM","code":"132700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D23.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"D23.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F22","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0007565","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536611","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1851526","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79493,"name":"Brooke-Spiegler syndrome","classifications":[156,187,202]}],"children":[],"genes":[{"symbol":"CYLD","name":"CYLD lysine 63 deubiquitinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19462465[PMID]","hgnc":"2584","ensembl":"ENSG00000083799","omim":"605018","loci":["16q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Very frequent (99-80%)","criteria":null}]}}