{"orpha":79493,"name":"Brooke-Spiegler syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CYLD cutaneous syndrome"],"definition":"A rare genetic disease characterized as an inherited skin tumour predisposition syndrome presenting with skin appendage tumours, namely cylindromas, spiradenomas and trichoepitheliomas","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79493/","orphanet_url":"https://www.orpha.net/en/disease/detail/79493","names":{"fr":{"name":"Syndrome de Brooke-Spiegler","synonyms":["Syndrome CYLD cutané"],"definition":"Maladie génétique rare caractérisée par un syndrome héréditaire de prédisposition aux tumeurs cutanées, se manifestant par de multiples tumeurs annexielles, incluant des cylindromes, des spiradénomes et des trichoépithéliomes."},"de":{"name":"Brooke-Spiegler-Syndrom","synonyms":["Kutanes CYLD-Syndrom"],"definition":"Eine seltene genetische Erkrankung, die durch ein vererbtes Hauttumor-Prädisposition-Syndrom gekennzeichnet ist, bei dem Hautanhangsgebilde, nämlich Zylindrome, Spiradenome und Trichoepitheliome, auftreten."},"es":{"name":"Síndrome de Brooke-Spiegler","synonyms":["Síndrome cutáneo CYLD"],"definition":"Es una enfermedad poco frecuente de origen genético caracterizada como un síndrome de predisposición hereditaria a los tumores de los anejos cutáneos, tales como cilindromas, espiradenomas y tricoepiteliomas."},"it":{"name":"Sindrome di Brooke-Spiegler","synonyms":["Sindrome cutanea CYLD"],"definition":"La sindrome di Brooke-Spiegler, o sindrome cutanea CYLD (CCS), è una malattia genetica rara da suscettibilità ereditaria ai tumori cutanei. Esordisce con neoplasie delle appendici cutanee, in particolare cilindromi, spiradenomi e tricoepiteliomi."},"nl":{"name":"Syndroom van Brooke-Spiegler","synonyms":["CYLD cutaan syndroom"],"definition":"Een zeldzame, genetische aandoening, gekarakteriseerd als erfelijk predispositiesyndroom voor huidtumor dat zich presenteert met tumoren van huidaanhangsel, zijnde cylindroom, spiradenoom en tricho-epithelioom."},"pt":{"name":"Síndrome Brooke-Spiegler","synonyms":["Síndrome cutâneo CYLD"]},"pl":{"name":"Zespół Brooke'a i Spieglera","synonyms":["Zespół skórny CYLD"]},"cs":{"name":"Brookeho-Spieglerův syndrom","synonyms":["CYLD kutánní syndrom","Brooke-Spieglerův syndrom"]},"uk":{"name":"Синдром Брука-Шпіглера","synonyms":["Шкірний синдром CYLD"],"definition":"A rare genetic disease characterized as an inherited skin tumour predisposition syndrome presenting with skin appendage tumours, namely cylindromas, spiradenomas and trichoepitheliomas"},"zh":{"name":"Brooke-Spiegler综合征","synonyms":["CYLD皮肤综合征"]},"tr":{"name":"Brooke-Spiegler sendromu","synonyms":["CYLD kutanöz sendrom"]}},"xrefs":[{"source":"OMIM","code":"132700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601606","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605041","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"612099","qualifier":"BTNT","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":"index","validated":true,"icd11_uri":"480444747"},{"source":"MONDO","code":"0011512","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857941","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10179","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10087912","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183487,"name":"Genetic skin tumor or hamartoma","classifications":[156]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]}],"children":[{"orpha":211,"name":"Familial cylindromatosis","type":"Clinical subtype"},{"orpha":867,"name":"Familial multiple trichoepithelioma","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":211,"name":"Familial cylindromatosis"}},{"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"],"via":{"orpha":867,"name":"Familial multiple trichoepithelioma"}}],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"Dr Neil RAJAN[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_Dr Neil RAJAN[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-19","source":"24587929[PMID]_26971504[PMID]_30093932[PMID]_15854031[PMID]","terms":[{"hpo":"HP:0031024","label":"Cylindroma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001965","label":"Abnormality of the scalp","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012842","label":"Skin appendage neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200036","label":"Skin nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025367","label":"Trichoepithelioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007606","label":"Multiple cutaneous malignancies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010732","label":"Nodular changes affecting the eyelids","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025512","label":"Skin-colored papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000372","label":"Abnormality of the auditory canal","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010288","label":"Abnormality of the sublingual glands","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010287","label":"Abnormality of the submandibular glands","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100684","label":"Salivary gland neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very rare (<4-1%)","criteria":null}]}}