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GENATLAS PHENOTYPE
last update : 06-12-2016
Symbol AIH2
Location 4q21
HGNC id 354
Name amelogenesis imperfecta 2, hypoplastic local
Other name(s)
  • Amelogenesis imperfecta, type IB
  • hypocalcification type AI, hypomineralization type
  • Corresponding gene ENAM , AMBN
    Other symbol(s) ADAI, AI1B
    Main clinical features
  • local hypoplastic amelogenesis imperfecta, with a horizontal row of pits, linear depressions, or one large hypoplastic area in the enamel with hypocalcification of the enamel adjacent to and below the hypoplastic area
  • defects appear most prominent on the buccal surfaces of the teeth involving the middle third of the enamel
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Gene product
    Name enamelin (ENAM)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      inversion   IVS6-2A>C, severely hypoplastic enamel phenotype
    deletion     8344delG, leading to generalized hypoplastic enamel with shallow horizontal grooves in the middle 1/3 of the anterior teeth
    Remark(s)