Inheritance

Gaucher disease follows an autosomal recessive pattern

Gaucher disease is inherited through an autosomal recessive pattern. It occurs when an individual inherits the pathogenic GBA1 gene from each parent.13,14 When both parents are carriers of the Gaucher gene, the disease can be passed down to their children in the following way:13

Gaucher disease follows an autosomal recessive pattern

Testing for Gaucher disease

Because of the inheritance patterns associated with Gaucher disease, family screening is important to identify at-risk family members.15

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Identify Gaucher disease

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References: 1. Charrow J, Andersson HC, Kaplan P, et al. The Gaucher registry. Demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000;160(18):2835-2843. 2. Mistry PK, Weinthal JA, Weinreb NJ. Clinical roundtable monograph. Disease state awareness in Gaucher disease: a q&a expert roundtable discussion. Clin Adv Hematol Oncol. 2012;10(6 suppl 8):3-16. 3. Kaplan P, Baris H, De Meirleir L, et al. Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr. 2013;172(4):447-458 Am J Hematol. 2007;82(8):697-701. 4. Koprivica V, Stone DL, Park JK, et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet. 2000;66(6):1777-1786. 5. Lachmann RH, Grant IR, Halsall D, et al. Twin pairs showing discordance of phenotype in adult Gaucher’s disease. Q J Med. 2004;97(4):199-204. 6. Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(suppl 5):4-14. 7. Mistry PK, Sadan S, Yang R, et al. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists–oncologists and an opportunity for early diagnosis and intervention. Am J Hematol . 2007;82(8):697-701. 8. Mistry PK, Capellini MD, Lukina E, et al. Consensus Conference: A reappraisal of Gaucher disease - diagnosis and disease management algorithms. Am J Hematol. 2011;86(1):110-115. 9. Grabowski GA, Petsko GA, Phil D, Kolodny EH. Chapter 146: Gaucher disease. In: Valle D, Beaudet AL, Vogelstein B, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill. https://ommbid.mhmedical.com/content.aspx?bookis=971§ionid=62643884. Accessed June 21, 2018. 10. Cox TM. Gaucher disease: clinical profile and therapeutic developments. Biol Targets Ther. 2010;4:299-313. 11. Linari S, Castaman G. Clinical manifestations and management of Gaucher disease. Clin Cases Miner Bone Metab. 2015. 12(2):157-164. 12. Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18(2):ii, E441. 13. National Organization for Rare Disorders. Gaucher Disease. Danbury, CT. https://rarediseases.org/rare-diseases/gaucher-disease. Published January 2006. Accessed June 21, 2018. 14. Mehta A, Belmatoug N, Bembi B, et al. Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians. Mol Gen Metab. 2017;122(3):122-129. 15. Pastores GM, Hughes DA. Gaucher disease. GeneReviews®. Seattle WA: NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK1269/?report=printable. Published July 27, 2000. Updated June 21, 2018. Accessed July 2, 2018.