Disease_Has_Molecular_Abnormality Disease_May_Have_Associated_Disease Disease_Mapped_To_Gene CTRP Terminology CTRP Disease Terminology GDC Terminology Comorbidity Cellosaurus Disease Terminology Risk Factor Childhood Cancer Predisposition Study Terminology CCPS Disease Terminology GDC Value Terminology Type 1 Papillary Renal Cell Carcinoma Birt-Hogg-Dube Syndrome Birt-Hogg-Dube Syndrome C28244 Birt-Hogg-Dube Syndrome Birt-Hogg-Dube syndrome A rare genetic syndrome with an autosomal dominant pattern of inheritance. It is caused by a mutation in the FLCN gene which encodes the protein folliculin. Clinical signs include multiple benign growths of the skin and lungs that begin to manifest in the second or third decade of life. The clinical course is characterized by the progressive growth of new and existing neoplasms. In those with mutations in both copies of FLCN, the kidneys may also be affected by the growth of benign or malignant neoplasms. CCPS Cellosaurus GDC Birt-Hogg-Dube Syndrome Disease or Syndrome C0346010 CTRP Birt-Hogg-Dube Syndrome Birt-Hogg-Dube_Syndrome An inherited condition in which benign tumors develop in hair follicles on the head, chest, back, and arms. People who have this disorder may be at increased risk of developing colon or kidney cancer. Hereditary Neoplastic Syndrome Clear Cell Renal Cell Carcinoma Chromophobe Renal Cell Carcinoma Fibrofolliculoma Kidney Oncocytoma FLCN Gene Mutation FLCN Gene