{"orpha":867,"name":"Familial multiple trichoepithelioma","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Brooke-Spiegler syndrome","url":"https://raremap.alftech.space/d/ORPHA-867/","orphanet_url":"https://www.orpha.net/en/disease/detail/867","names":{"fr":{"name":"Trichoépithéliome multiple familial"},"de":{"name":"Trichoepitheliom, familiäres multiples"},"es":{"name":"Tricoepitelioma múltiple familiar"},"it":{"name":"Tricoepitelioma multiplo familiare"},"nl":{"name":"Familiaal meervoudig tricho-epithelioom"},"pt":{"name":"Tricoepitelioma múltiplo familiar"},"pl":{"name":"Rodzinne mnogie nabłoniaki włosowe"},"cs":{"name":"Familiární mnohočetný trichoepiteliom"},"uk":{"name":"Сімейна множинна трихоепітеліома"},"zh":{"name":"多发性家族性毛发上皮瘤"},"tr":{"name":"Ailesel çoklu trikoepitelyoma"}},"xrefs":[{"source":"OMIM","code":"601606","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"612099","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D23.3","qualifier":"NTBT","icd_relation":"attributed","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":"index","validated":true,"icd11_uri":"480444747"},{"source":"MONDO","code":"0011114","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1275122","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":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null}]}}