Birt-Hogg-Dubé Syndrome

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Yang, C. Birt-Hogg-Dubé Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4988 (accessed on 22 September 2026).

Yang C. Birt-Hogg-Dubé Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4988. Accessed September 22, 2026.

Yang, Catherine. "Birt-Hogg-Dubé Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4988 (accessed September 22, 2026).

Yang, C. (2020, December 24). Birt-Hogg-Dubé Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4988

Yang, Catherine. "Birt-Hogg-Dubé Syndrome." Encyclopedia. Web. 24 December, 2020.

Birt-Hogg-Dubé Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/birt-hogg-dube-syndrome

Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals.

genetic conditions

References

Happle R. Hornstein-Birt-Hogg-Dubé syndrome: a renaming and reconsideration.Am J Med Genet A. 2012 Jun;158A(6):1247-51. doi: 10.1002/ajmg.a.35330.
Khoo SK, Giraud S, Kahnoski K, Chen J, Motorna O, Nickolov R, Binet O, LambertD, Friedel J, Lévy R, Ferlicot S, Wolkenstein P, Hammel P, Bergerheim U, Hedblad MA, Bradley M, Teh BT, Nordenskjöld M, Richard S. Clinical and genetic studies ofBirt-Hogg-Dubé syndrome. J Med Genet. 2002 Dec;39(12):906-12. Erratum in: J MedGenet. 2003 Feb;40(2):150..
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. Mutations in a novel genelead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Cancer Cell. 2002 Aug;2(2):157-64.
Pavlovich CP, Walther MM, Eyler RA, Hewitt SM, Zbar B, Linehan WM, Merino MJ. Renal tumors in the Birt-Hogg-Dubé syndrome. Am J Surg Pathol. 2002Dec;26(12):1542-52.
Sattler EC, Steinlein OK. Birt-Hogg-Dubé Syndrome. 2006 Feb 27 [updated 2020Jan 30]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1522/
Schmidt LS, Nickerson ML, Warren MB, Glenn GM, Toro JR, Merino MJ, Turner ML, Choyke PL, Sharma N, Peterson J, Morrison P, Maher ER, Walther MM, Zbar B,Linehan WM. Germline BHD-mutation spectrum and phenotype analysis of a largecohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet. 2005Jun;76(6):1023-33.
Schmidt LS, Warren MB, Nickerson ML, Weirich G, Matrosova V, Toro JR, TurnerML, Duray P, Merino M, Hewitt S, Pavlovich CP, Glenn G, Greenberg CR, Linehan WM,Zbar B. Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneouspneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet.2001 Oct;69(4):876-82.
Warren MB, Torres-Cabala CA, Turner ML, Merino MJ, Matrosova VY, Nickerson ML,Ma W, Linehan WM, Zbar B, Schmidt LS. Expression of Birt-Hogg-Dubé gene mRNA innormal and neoplastic human tissues. Mod Pathol. 2004 Aug;17(8):998-1011.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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