Birt-Hogg-Dube syndrome (BHD) is an autosomal dominant condition characterized by skin fibrofolliculomas, multiple pulmonary cysts, and renal cancer. Skin lesions usually appear after the age of 20 years with multiple white papules in the midface. The disease is caused by mutations in the FLCN gene coding for folliculin.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD27 Syndromes with skin or mucosal anomalies as a major feature
H00818 Birt-Hogg-Dube syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06522 mTOR signaling
H00818 Birt-Hogg-Dube syndrome
Nickerson ML, Warren MB, Toro JR, Matrosova V, Glenn G, Turner ML, Duray P, Merino M, Choyke P, Pavlovich CP, Sharma N, Walther M, Munroe D, Hill R, Maher E, Greenberg C, Lerman MI, Linehan WM, Zbar B, Schmidt LS
Title
Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome.
van de Beek I, Glykofridis IE, Oosterwijk JC, van den Akker PC, Diercks GFH, Bolling MC, Waisfisz Q, Mensenkamp AR, Balk JA, Zwart R, Postma AV, Meijers-Heijboer HEJ, van Moorselaar RJA, Wolthuis RMF, Houweling AC
Title
PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dube syndrome and familial lipomatosis.
