This website provides information on patients with mutations in the FLNC (folliculin, FLCL, BHD) gene, including clinical data, molecular data, management and research options.
The syndrome caused by germline mutations in the FLCN gene, Birt-Hogg-Dube syndrome, is a multisystem disorder, a rare inherited genodermatosis, characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax.
Other phenotypes related to FLCN variants encompass:
Pneumothorax, primary, spontaneous (MIM 173600),
Colorectal cancer, somatic (MIM 114500),
Renal carcinoma, chromophobe, somatic (MIM 144700).
Not all individuals with a mutation in the FLCN gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the FLCN gene.
Aleksandra Jezela-Stanek, MD, PhD, National Institute of Tuberculosis and Lung Diseases, Poland, firstname.lastname@example.org
Elżbieta Radzikowska, MD, PhD, National Institute of Tuberculosis and Lung Diseases, Poland, email@example.com