have been created for a kidney-cancer causing mutation of BHD; heterozygotes develop kidney cysts and tumors that lead to renal failure within three weeks of birth. In these mice, the mTOR pathway was inappropriately activated, indicating that the mouse homolog of FLCN plays a regulatory role in this pathway. Rapamycin partially rescued the phenotype by regulating mTOR. Homozygotes die in utero. References Citations Bibliography External links BHDSyndrome.org Cancer.Net: Birt-Hogg-Dubé Syndrome Epidermal nevi, neoplasms, and cysts Autosomal dominant disorders Syndromes with tumors Syndromes affecting the lung Rare syndromes