Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant

MedGen UID:: 314095
•Concept ID:: C1720965
•: Disease or Syndrome

Synonym:

Ectodermal Dysplasia 3, Anhidrotic

Definition

An autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR. [from MeSH]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVEctodermal Dysplasia, Hypohidrotic, Autosomal Dominant

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Ectodermal dysplasia
      - Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant

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

Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.

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: 28629746 Free PMC Article

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Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant

Definition

Term Hierarchy

Professional guidelines

PubMed

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