Birt–Hogg–Dubé syndrome

Also known as: BHD; Hornstein–Knickenberg syndrome

Fibrofolliculomas, lung cysts and renal tumors.

Medical specialty: Nephrology
Subspecialty: Nephrology / Renal oncology
Sex & age distribution: Male: affected; Female: affected equally; Children: rare, adults
Gene(s) involved: FLCN

Etiology & mechanism

FLCN loss.

Gene(s) involved (1)

FLCN

Symptoms & signs (5)

chromophobe renal cell carcinomafibrofolliculomaslung cystsoncocytomaspontaneous pneumothorax

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.