Hypohidrotic Ectodermal Dysplasia

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Xu, C. Hypohidrotic Ectodermal Dysplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4260 (accessed on 27 September 2026).

Xu C. Hypohidrotic Ectodermal Dysplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4260. Accessed September 27, 2026.

Xu, Camila. "Hypohidrotic Ectodermal Dysplasia" Encyclopedia, https://encyclopedia.pub/entry/4260 (accessed September 27, 2026).

Xu, C. (2020, December 23). Hypohidrotic Ectodermal Dysplasia. In Encyclopedia. https://encyclopedia.pub/entry/4260

Xu, Camila. "Hypohidrotic Ectodermal Dysplasia." Encyclopedia. Web. 23 December, 2020.

Hypohidrotic Ectodermal Dysplasia

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

Hypohidrotic ectodermal dysplasia is one of more than 100 types of ectodermal dysplasia. Starting before birth, these disorders result in the abnormal development of ectodermal tissues, particularly the skin, hair, nails, teeth, and sweat glands.

genetic conditions

References

Bohring A, Stamm T, Spaich C, Haase C, Spree K, Hehr U, Hoffmann M, Ledig S,Sel S, Wieacker P, Röpke A. WNT10A mutations are a frequent cause of a broadspectrum of ectodermal dysplasias with sex-biased manifestation pattern inheterozygotes. Am J Hum Genet. 2009 Jul;85(1):97-105. doi:10.1016/j.ajhg.2009.06.001.
Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E,Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M,Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, BonnefontJP, Bodemer C, Smahi A. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) accountfor 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat. 2011Jan;32(1):70-2. doi: 10.1002/humu.21384.
Mikkola ML. Molecular aspects of hypohidrotic ectodermal dysplasia. Am J MedGenet A. 2009 Sep;149A(9):2031-6. doi: 10.1002/ajmg.a.32855. Review.
Nguyen-Nielsen M, Skovbo S, Svaneby D, Pedersen L, Fryzek J. The prevalence ofX-linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995-2010. Eur JMed Genet. 2013 May;56(5):236-42. doi: 10.1016/j.ejmg.2013.01.012.
Trzeciak WH, Koczorowski R. Molecular basis of hypohidrotic ectodermaldysplasia: an update. J Appl Genet. 2016 Feb;57(1):51-61. doi:10.1007/s13353-015-0307-4.
van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ. Mutation screening of the Ectodysplasin-A receptor geneEDAR in hypohidrotic ectodermal dysplasia. Eur J Hum Genet. 2008 Jun;16(6):673-9.doi: 10.1038/sj.ejhg.5202012.
Wiśniewski SA, Kobielak A, Trzeciak WH, Kobielak K. Recent advances inunderstanding of the molecular basis of anhidrotic ectodermal dysplasia:discovery of a ligand, ectodysplasin A and its two receptors. J Appl Genet.2002;43(1):97-107. Review.
Wright JT, Grange DK, Fete M. Hypohidrotic Ectodermal Dysplasia. 2003 Apr 28[updated 2017 Jun 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1112/

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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