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GENATLAS PHENOTYPE
last update : 27-11-2010
Symbol ODDD
Location 6q22.31
Name oculodentodigital syndrome
Corresponding gene GJA1
Other symbol(s) ODD1, ODOD, SDTY3
Main clinical features
  • microphthalmos, microcornea, and glaucoma, teeth small with enamelogenesis imperfecta, phalanges and metacarpals widened , with brachydactyly and syndactyly of fingers 4 and 5
    • Genetic determination autosomal dominant
    Related entries including microcornea, and syndactyly type 3 (OMIM: 186100)
    Function/system disorder congenital malformation
    eye
    limbs
    dermatology
    osteo-articular
    Type MCA/MR
    Gene product
    Name gap junction protein, alpha 1(connexin 43)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s) .GJA1 mutants reduce endogenousGJA1 expression and function in osteoblasts and inhibit late stage differentiation (PMID: 18269311))