Arts Syndrome

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Yang, C. Arts Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4794 (accessed on 25 September 2026).

Yang C. Arts Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4794. Accessed September 25, 2026.

Yang, Catherine. "Arts Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4794 (accessed September 25, 2026).

Yang, C. (2020, December 24). Arts Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4794

Yang, Catherine. "Arts Syndrome." Encyclopedia. Web. 24 December, 2020.

Arts Syndrome

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

Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms.

genetic conditions

References

Arts WF, Loonen MC, Sengers RC, Slooff JL. X-linked ataxia, weakness,deafness, and loss of vision in early childhood with a fatal course. Ann Neurol. 1993 May;33(5):535-9.
de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J. PRPS1 mutations: four distinct syndromes and potential treatment. Am J Hum Genet.2010 Apr 9;86(4):506-18. doi: 10.1016/j.ajhg.2010.02.024. Review.
de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB,Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC,Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H.Arts syndrome is caused by loss-of-function mutations in PRPS1. Am J Hum Genet.2007 Sep;81(3):507-18.
de Brouwer APM, Christodoulou J. Arts Syndrome. 2008 Oct 21 [updated 2018 Mar 22]. 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/NBK2591/
Kremer H, Hamel BC, van den Helm B, Arts WF, de Wijs IJ, Sistermans EA, RopersHH, Mariman EC. Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and afatal course in early childhood. Hum Genet. 1996 Nov;98(5):513-7.
Liu XZ, Xie D, Yuan HJ, de Brouwer AP, Christodoulou J, Yan D. Hearing lossand PRPS1 mutations: Wide spectrum of phenotypes and potential therapy. Int JAudiol. 2013 Jan;52(1):23-8. doi: 10.3109/14992027.2012.736032.Review.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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