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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). Autosomal recessive inheritance (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	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]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Congenital anomaly of skin
        Ectodermal dysplasia
        Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
        Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
        Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
        Ectodermal dysplasia 15, hypohidrotic/hair type

Professional guidelines

PubMed

Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.

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

See all (1)

Recent clinical studies

Etiology

Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.

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

Hypohidrotic Ectodermal Dysplasia: A Rare Disorder With Bilateral Infantile Glaucoma.

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

Hypohidrotic ectodermal dysplasia: clinical and molecular review.

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

X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.

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

Craniofacial and upper airway cephalometrics in hypohidrotic ectodermal dysplasia.

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

See all (17)

Diagnosis

Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.

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

Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity.

Yagi S, Yasuno S, Ansai O, Hayashi R, Shimomura Y
J Dermatol 2023 Mar;50(3):349-356. Epub 2022 Oct 18 doi: 10.1111/1346-8138.16610. PMID: 36258277

Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.

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

Prenatal Genetic Testing for X-Linked Hypohidrotic Ectodermal Dysplasia.

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

Hypohidrotic ectodermal dysplasia: clinical and molecular review.

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

See all (30)

Therapy

Hypohidrotic ectodermal dysplasia with atrophic rhinitis and nasal myiasis.

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

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Prognosis

A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families.

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

Hypohidrotic Ectodermal Dysplasia: A Rare Disorder With Bilateral Infantile Glaucoma.

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

Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a.

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: 30526585 Free PMC Article

Functional studies for the TRAF6 mutation associated with hypohidrotic ectodermal dysplasia.

Fujikawa H, Farooq M, Fujimoto A, Ito M, Shimomura Y
Br J Dermatol 2013 Mar;168(3):629-33. Epub 2012 Dec 13 doi: 10.1111/bjd.12018. PMID: 22924441

Hypohidrotic ectodermal dysplasia with atrophic rhinitis and nasal myiasis.

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

See all (11)