Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

Alternative Names

  • XHED
  • Ectodermal Dysplasia 1, Hypohidrotic/Hair/Tooth Type, X-Linked
  • ECTD1
  • XLHED
  • Ectodermal Dysplasia, Anhidrotic, X-Linked
  • EDA
  • EDA1
  • Ectodermal Dysplasia, Hypohidrotic, 1
  • HED1
  • Ectodermal Dysplasia 1
  • ED1
  • Christ-Siemens-Touraine Syndrome
  • CST Syndrome

Associated Genes

Ectodysplasin A
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

305100

Mode of Inheritance

X-linked recessive

Gene Map Locus

Xq13.1

Description

Ectodermal Dysplasia 1, Hypohidrotic, X-Linked (XHED) a congenital disorder wherein affected individuals have abnormal development of two or more ectodermal structures.  Most patients have a reduced ability to sweat, sparse scalp and body hair, absent teeth and facial dysmorphism.  The dysmorphic facial features may include forehead bumps, rings under the eyes, everted nose, and/or prominent lips. 

Mutations in the EDA gene, located on the long arm of chromosome X have been shown to be causal for the condition.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
305100.1EgyptMaleNoNo Oligodontia ; Low anterior hairline;NM_001399.4:c.663_680delTCCTCCTGGTCCTCAAGGHemizygousX-linked, RecessiveGaczkowska et al. 2016 de novo mutation
305100.2EgyptMaleNoNo Hypohidrosis; Sparse hair; Agenesis of...NM_001399.4:c.463C>THemizygousX-linked, RecessiveGaczkowska et al. 2016 de novo mutation
305100.3.1LebanonMaleNoNo Acne; Anhidrosis; Sparse hair; Promin...NM_001399.4:c.463C>THemizygousX-linked, RecessiveTomb et al, 2009
305100.3.2LebanonMaleNoNo Anhidrosis; Sparse hair; Prominent f...NM_001399.4:c.463C>THemizygousX-linked, RecessiveTomb et al, 2009 Sibling of 305100.3....
305100.3.3LebanonMaleNoNo Anhidrosis; Sparse hair; Prominent f...NM_001399.4:c.463C>THemizygousX-linked, RecessiveTomb et al, 2009 Sibling of 305100.3....
© CAGS 2024. All rights reserved.