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Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

MedGen UID:
96067
Concept ID:
C0406702
Congenital Abnormality
Synonym: Autosomal recessive hypohidrotic ectodermal dysplasia
SNOMED CT: Hypohidrotic autosomal recessive ectodermal dysplasia (27025001); Autosomal recessive hypohidrotic ectodermal dysplasia syndrome (27025001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related genes: EDARADD, EDAR, CST6
 
Monarch Initiative: MONDO:0016619
Orphanet: ORPHA248

Definition

A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations. [from NCI]

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

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
Dubey S, Bhoot M, Jain K
J Glaucoma 2019 Apr;28(4):e58-e60. doi: 10.1097/IJG.0000000000001156. PMID: 30540672
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
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
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

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
Chaudhary AK, Gholse A, Nagarajaram HA, Dalal AB, Gupta N, Dutta AK, Danda S, Gupta R, Sankar HV, Bhavani GS, Girisha KM, Phadke SR, Ranganath P, Bashyam MD
Am J Med Genet A 2022 Mar;188(3):788-805. Epub 2021 Dec 4 doi: 10.1002/ajmg.a.62579. PMID: 34863015
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
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
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

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

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
He F, Wang H, Zhang X, Gao Q, Guo F, Chen C
BMC Med Genet 2018 Dec 7;19(1):209. doi: 10.1186/s12881-018-0726-2. PMID: 30526585Free PMC Article
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
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

Dubey S, Bhoot M, Jain K
J Glaucoma 2019 Apr;28(4):e58-e60. doi: 10.1097/IJG.0000000000001156. PMID: 30540672
He F, Wang H, Zhang X, Gao Q, Guo F, Chen C
BMC Med Genet 2018 Dec 7;19(1):209. doi: 10.1186/s12881-018-0726-2. PMID: 30526585Free PMC Article
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
Gündüz Arslan S, Devecioğlu Kama J, Ozer T, Yavuz I
Dentomaxillofac Radiol 2007 Dec;36(8):478-83. doi: 10.1259/dmfr/28789331. PMID: 18033944
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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