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GENATLAS PHENOTYPE
last update : 06-12-2016
Symbol AIH1
Location Xp22.2
HGNC id 353
Name amelogenesis imperfecta 1, hypoplastic/hypomaturation
Other name(s)
  • Amelogenesis imperfecta, type 1E
  • enamel hypoplasia, hereditary
  • Corresponding gene AMELX
    Other symbol(s) AI1E
    Main clinical features
  • primary teeth are opaque ground-glass white, and secondary teeth are mottled yellow-brown and white
  • enamel is of normal thickness, moderately soft, and does not contrast from dentin on x-ray
  • Genetic determination sex linked
    Function/system disorder digestive tract/gastrointestinal
    Type disease
    Gene product
    Name amelogenin (AMELX)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types      
      deletion   encompassing AMELX in a female patient with clinical symptoms of both microphthalmia with linear skin defects (MLS or MIDAS) and dental enamel defects
    Remark(s)