{"orpha":122,"name":"Birt-Hogg-Dubé syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hornstein-Knickenberg syndrome"],"definition":"A rare inherited cancer-predisposing syndrome characterized by skin lesions, benign and malignant kidney tumors, and pulmonary cysts that may be associated with pneumothorax.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-122/","orphanet_url":"https://www.orpha.net/en/disease/detail/122","names":{"fr":{"name":"Syndrome de Birt-Hogg-Dubé","synonyms":["Syndrome de Hornstein-Knickenberg"],"definition":"Syndrome héréditaire rare de prédisposition au cancer caractérisé par des lésions cutanées, des tumeurs rénales bénignes et malignes et des kystes pulmonaires pouvant être associés à un pneumothorax."},"de":{"name":"Birt-Hogg-Dubé-Syndrom","synonyms":["Hornstein-Knickenberg-Syndrom"],"definition":"Ein seltenes hereditäres Krebsprädisposition-Syndrom, das durch Hautläsionen, gutartige und bösartige Nierentumore und Lungenzysten gekennzeichnet ist, die mit Pneumothorax einhergehen können."},"es":{"name":"Síndrome de Birt-Hogg-Dubé","synonyms":["Síndrome de Hornstein-Knickenberg"],"definition":"Es un síndrome hereditario poco frecuente de predisposición al cáncer caracterizado por lesiones cutáneas, tumores renales benignos y malignos, y quistes pulmonares que pueden estar asociados a neumotórax."},"it":{"name":"Sindrome di Birt-Hogg-Dubé","synonyms":["Sindrome di Hornstein-Knickenberg"]},"nl":{"name":"Syndroom van Birt-Hogg-Dubé","synonyms":["Syndroom van Hornstein-Knickenberg"],"definition":"Een zeldzaam erfelijk kankerpredispositiesyndroom, gekenmerkt door huidlaesies, goed- en kwaadaardige niertumoren, en longcysten die geassocieerd kunnen zijn met klaplong."},"pt":{"name":"Síndrome Birt-Hogg-Dubé","synonyms":["Síndrome Hornstein-Knickenberg"],"definition":"Síndrome rara, hereditária, predisponente ao cancro, caracterizada por lesões de pele, tumores renais benignos e malignos e quistos pulmonares que podem estar associados ao pneumotórax."},"pl":{"name":"Zespół Birta-Hogg-Dubégo","synonyms":["Hornstein-Knickenberg syndrome"],"definition":"Rzadki dziedziczny zespół predysponujący do nowotworów charakteryzujący się zmianami skórnymi, nowotworami nerek i torbielami płucnymi, którym może towarzyszyć odma opłucnowa."},"cs":{"name":"Birtův-Hoggové-Dubeův syndrom","synonyms":["Fibrofolikulomy s trichodiscomy a akrochordony","Birt-Hogg-Dubeův syndrom"]},"uk":{"name":"Синдром Берт-Хогга-Дюбе","synonyms":["Синдром Горнштейна-Кнікенберга"],"definition":"A rare inherited cancer-predisposing syndrome characterized by skin lesions, benign and malignant kidney tumors, and pulmonary cysts that may be associated with pneumothorax."},"zh":{"name":"Birt-Hogg-DubÚ综合征","synonyms":["纤维滤泡瘤伴毛盘状瘤和皮肤印记"]},"tr":{"name":"Birt-Hogg-Dubé sendromu","synonyms":["Trikodiskomalar ve akrokordonlarla fibrofolikülomlar"]}},"xrefs":[{"source":"OMIM","code":"135150","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"620459","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C64","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.5","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"436079981"},{"source":"MONDO","code":"0800445","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D058249","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0346010","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2322","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067736","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":338,"name":"Familial multiple fibrofolliculoma","status":"inactive"}],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":363250,"name":"Ciliopathy","classifications":[156]},{"orpha":183487,"name":"Genetic skin tumor or hamartoma","classifications":[156]},{"orpha":319328,"name":"Inherited renal cancer-predisposing syndrome","classifications":[156,188,202]},{"orpha":264740,"name":"Primary interstitial lung disease specific to adulthood","classifications":[184,233]},{"orpha":156610,"name":"Rare genetic respiratory disease","classifications":[156]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]}],"children":[],"genes":[{"symbol":"FLCN","name":"folliculin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301695[PMID]","hgnc":"27310","ensembl":"ENSG00000154803","omim":"607273","loci":["17p11.2"]},{"symbol":"PRDM10","name":"PR/SET domain 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37331486[PMID]","hgnc":"13995","ensembl":"ENSG00000170325","omim":"618319","loci":["11q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-10-03","source":"20301695[PMID]_40336059[PMID]","terms":[{"hpo":"HP:0030436","label":"Fibrofolliculoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010609","label":"Skin tags","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005948","label":"Multiple pulmonary cysts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006522","label":"Repeated pneumothoraces","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002108","label":"Spontaneous pneumothorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010615","label":"Angiofibromas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000022","label":"Collagenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012056","label":"Cutaneous melanoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200040","label":"Epidermoid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002865","label":"Medullary thyroid carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000957","label":"Oral mucosal papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002897","label":"Parathyroid adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002107","label":"Pneumothorax","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005584","label":"Renal cell carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031523","label":"Salivary gland oncocytoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000853","label":"Thyroid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025388","label":"Thyroid nodule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032228","label":"Trichodiscoma","frequency":"Occasional (29-5%)","criteria":null}]}}