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GENATLAS PHENOTYPE
last update : 25-11-2010
Symbol ED1
Location Xq12-q13.1
Name ectodermal dysplasia 1, anhidrotic
Other name(s)
  • ectodermal dysplasia, anhidrotic or hypohidrotic
  • Christ-Siemens-Touraine syndrome
    • Corresponding gene EDA
    Other symbol(s) EDA, HED
    Main clinical features
  • congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating
  • sparse hair, abnormal or missing teeth, lack of sweat glands
    • Genetic determination sex linked
    Function/system disorder dermatology
    Type disease
    Gene product
    Name ectodysplasin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     in the furin-consensus sequence and in TNF domain
    deletion     a large deletion encompassing all ED1 gene
    Remark(s)