Osteopetrosis

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Xu, R. Osteopetrosis. Encyclopedia. Available online: https://encyclopedia.pub/entry/4836 (accessed on 26 September 2026).

Xu R. Osteopetrosis. Encyclopedia. Available at: https://encyclopedia.pub/entry/4836. Accessed September 26, 2026.

Xu, Rita. "Osteopetrosis" Encyclopedia, https://encyclopedia.pub/entry/4836 (accessed September 26, 2026).

Xu, R. (2020, December 24). Osteopetrosis. In Encyclopedia. https://encyclopedia.pub/entry/4836

Xu, Rita. "Osteopetrosis." Encyclopedia. Web. 24 December, 2020.

Osteopetrosis

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/osteopetrosis

Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.

genetic conditions

References

Balemans W, Van Wesenbeeck L, Van Hul W. A clinical and molecular overview of the human osteopetroses. Calcif Tissue Int. 2005 Nov;77(5):263-74.
Del Fattore A, Cappariello A, Teti A. Genetics, pathogenesis and complicationsof osteopetrosis. Bone. 2008 Jan;42(1):19-29.
Del Fattore A, Peruzzi B, Rucci N, Recchia I, Cappariello A, Longo M,Fortunati D, Ballanti P, Iacobini M, Luciani M, Devito R, Pinto R, Caniglia M,Lanino E, Messina C, Cesaro S, Letizia C, Bianchini G, Fryssira H, Grabowski P,Shaw N, Bishop N, Hughes D, Kapur RP, Datta HK, Taranta A, Fornari R, Migliaccio S, Teti A. Clinical, genetic, and cellular analysis of 49 osteopetrotic patients:implications for diagnosis and treatment. J Med Genet. 2006 Apr;43(4):315-25.
Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M, Babul-HirjiR, Baric I, Canham N, Chitayat D, Dupuis-Girod S, Ellis I, Etzioni A, Fasth A,Fisher A, Gerritsen B, Gulino V, Horwitz E, Klamroth V, Lanino E, Mirolo M, MusioA, Matthijs G, Nonomaya S, Notarangelo LD, Ochs HD, Superti Furga A, Valiaho J,van Hove JL, Vihinen M, Vujic D, Vezzoni P, Villa A. The mutational spectrum ofhuman malignant autosomal recessive osteopetrosis. Hum Mol Genet. 2001 Aug15;10(17):1767-73.
Sobacchi C, Villa A, Schulz A, Kornak U. CLCN7-Related Osteopetrosis. 2007 Feb12 [updated 2016 Jun 9]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, BeanLJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1127/
Stark Z, Savarirayan R. Osteopetrosis. Orphanet J Rare Dis. 2009 Feb 20;4:5.doi: 10.1186/1750-1172-4-5. Review.
Tolar J, Teitelbaum SL, Orchard PJ. Osteopetrosis. N Engl J Med. 2004 Dec30;351(27):2839-49. Review.
Villa A, Guerrini MM, Cassani B, Pangrazio A, Sobacchi C. Infantile malignant,autosomal recessive osteopetrosis: the rich and the poor. Calcif Tissue Int. 2009Jan;84(1):1-12. doi: 10.1007/s00223-008-9196-4.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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