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GENATLAS PHENOTYPE
last update : 09//07/2008
Symbol ED3
Location 2q11-q13
Name ectodermal dysplasia 3, anhidrotic
Other name(s) ectodermal dysplasia 3, hypohidrotic
Corresponding gene EDAR
Other symbol(s) EDA3
Main clinical features
  • mild hypotrichosis, partial hypodontia, and variable degrees of hypohidrosis, and at electron microscopy, defective cuticular layer of the hair shafts with longitudinal grooves
  • Genetic determination autosomal dominant
    autosomal recessive
    Related entries including autosomal recessive form (OMIM 224900)
    Function/system disorder connective tissue
    Type disease
    Gene product
    Name ectodysplasin 1 receptor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function recessive loss of function as well as likely dominant negative mutations
    unknown     R375H substitution in EDAR caused loss of its affinity for EDARADD and reduced activation of the downstream target NF-kappaB (recessive form)
    Remark(s) homozygous or compound heterozygous mutations in the EDAR gene have a more severe phenotype than those with a heterozygous missense, nonsense or frame-shift mutation