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Autosomal hypohidrotic ectodermal dysplasia

MedGen UID:
468426
Concept ID:
CN118829
Disease or Syndrome
Related genes: EDARADD, EDAR

Professional guidelines

PubMed

Güven Y, Bal E, Altunoglu U, Yücel E, Hadj-Rabia S, Koruyucu M, Bahar Tuna E, Çıldır Ş, Aktören O, Bodemer C, Uyguner ZO, Smahi A, Kayserili H
Cytogenet Genome Res 2019;157(4):189-196. Epub 2019 Apr 12 doi: 10.1159/000499325. PMID: 30974434
Petersheim D, Massaad MJ, Lee S, Scarselli A, Cancrini C, Moriya K, Sasahara Y, Lankester AC, Dorsey M, Di Giovanni D, Bezrodnik L, Ohnishi H, Nishikomori R, Tanita K, Kanegane H, Morio T, Gelfand EW, Jain A, Secord E, Picard C, Casanova JL, Albert MH, Torgerson TR, Geha RS
J Allergy Clin Immunol 2018 Mar;141(3):1060-1073.e3. Epub 2017 Jun 17 doi: 10.1016/j.jaci.2017.05.030. PMID: 28629746Free PMC Article

Recent clinical studies

Etiology

Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP
Adv Exp Med Biol 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. PMID: 37525042
Reyes-Reali J, Mendoza-Ramos MI, Garrido-Guerrero E, Méndez-Catalá CF, Méndez-Cruz AR, Pozo-Molina G
Int J Dermatol 2018 Aug;57(8):965-972. Epub 2018 May 31 doi: 10.1111/ijd.14048. PMID: 29855039
Blüschke G, Nüsken KD, Schneider H
Early Hum Dev 2010 Jul;86(7):397-9. Epub 2010 Jun 1 doi: 10.1016/j.earlhumdev.2010.04.008. PMID: 20682465
Clauss F, Chassaing N, Smahi A, Vincent MC, Calvas P, Molla M, Lesot H, Alembik Y, Hadj-Rabia S, Bodemer C, Manière MC, Schmittbuhl M
Clin Genet 2010 Sep;78(3):257-66. Epub 2010 Feb 24 doi: 10.1111/j.1399-0004.2010.01376.x. PMID: 20236127
Etzioni A, Ochs HD
Pediatr Res 2004 Oct;56(4):519-25. Epub 2004 Aug 19 doi: 10.1203/01.PDR.0000139318.65842.4A. PMID: 15319456

Diagnosis

Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP
Adv Exp Med Biol 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. PMID: 37525042
Yapijakis C, Gintoni I, Chrousos G
Adv Exp Med Biol 2021;1339:337-340. doi: 10.1007/978-3-030-78787-5_41. PMID: 35023123
Reyes-Reali J, Mendoza-Ramos MI, Garrido-Guerrero E, Méndez-Catalá CF, Méndez-Cruz AR, Pozo-Molina G
Int J Dermatol 2018 Aug;57(8):965-972. Epub 2018 May 31 doi: 10.1111/ijd.14048. PMID: 29855039
Blüschke G, Nüsken KD, Schneider H
Early Hum Dev 2010 Jul;86(7):397-9. Epub 2010 Jun 1 doi: 10.1016/j.earlhumdev.2010.04.008. PMID: 20682465
Walpole IR, Goldblatt J
Clin Genet 1991 Feb;39(2):114-20. doi: 10.1111/j.1399-0004.1991.tb02996.x. PMID: 2015692

Therapy

Madana J, Yolmo D, Gopalakrishnan S, Saxena SK, Nath AK, Ilamaran V
Int J Pediatr Otorhinolaryngol 2009 Oct;73(10):1467-9. Epub 2009 Jul 18 doi: 10.1016/j.ijporl.2009.06.012. PMID: 19616858

Prognosis

Andreoni F, Sgattoni C, Bencardino D, Simonetti O, Forabosco A, Magnani M
Mol Genet Genomic Med 2021 Jan;9(1):e1555. Epub 2020 Nov 18 doi: 10.1002/mgg3.1555. PMID: 33205897Free PMC Article
Sadia, Foo JN, Khor CC, Jelani M, Ali G
J Gene Med 2019 Sep;21(9):e3113. Epub 2019 Aug 5 doi: 10.1002/jgm.3113. PMID: 31310406
Dubey S, Bhoot M, Jain K
J Glaucoma 2019 Apr;28(4):e58-e60. doi: 10.1097/IJG.0000000000001156. PMID: 30540672
Blüschke G, Nüsken KD, Schneider H
Early Hum Dev 2010 Jul;86(7):397-9. Epub 2010 Jun 1 doi: 10.1016/j.earlhumdev.2010.04.008. PMID: 20682465
Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J
Nat Genet 1999 Aug;22(4):366-9. doi: 10.1038/11937. PMID: 10431241

Clinical prediction guides

Petersheim D, Massaad MJ, Lee S, Scarselli A, Cancrini C, Moriya K, Sasahara Y, Lankester AC, Dorsey M, Di Giovanni D, Bezrodnik L, Ohnishi H, Nishikomori R, Tanita K, Kanegane H, Morio T, Gelfand EW, Jain A, Secord E, Picard C, Casanova JL, Albert MH, Torgerson TR, Geha RS
J Allergy Clin Immunol 2018 Mar;141(3):1060-1073.e3. Epub 2017 Jun 17 doi: 10.1016/j.jaci.2017.05.030. PMID: 28629746Free PMC Article
Kieri CF, Bergendal B, Lind LK, Schmitt-Egenolf M, Stecksén-Blicks C
BMC Med Genet 2014 May 16;15:57. doi: 10.1186/1471-2350-15-57. PMID: 24884697Free PMC Article
Blüschke G, Nüsken KD, Schneider H
Early Hum Dev 2010 Jul;86(7):397-9. Epub 2010 Jun 1 doi: 10.1016/j.earlhumdev.2010.04.008. PMID: 20682465
Clauss F, Chassaing N, Smahi A, Vincent MC, Calvas P, Molla M, Lesot H, Alembik Y, Hadj-Rabia S, Bodemer C, Manière MC, Schmittbuhl M
Clin Genet 2010 Sep;78(3):257-66. Epub 2010 Feb 24 doi: 10.1111/j.1399-0004.2010.01376.x. PMID: 20236127
Cambiaghi S, Restano L, Pääkkönen K, Caputo R, Kere J
Arch Dermatol 2000 Feb;136(2):217-24. doi: 10.1001/archderm.136.2.217. PMID: 10677098

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