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GENATLAS PHENOTYPE
last update : 13-03-2010
Symbol OPD2
Location Xq28
Name otopalatodigital syndrome, type 2
Other name(s)
  • cranioorodigital syndrome
  • OPD II syndrome
  • faciopalatoosseous syndrome
    • Corresponding gene FLNA
    Other symbol(s) FMD, FPO
    Main clinical features
  • with deafness, cleft palate, enlarged thumbs and great toes, visceral and brain anomalies
    • Genetic determination sex linked
    Function/system disorder congenital malformation
    osteo-articular
    Type disease
    Gene product
    Name filamin A
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function  
    Remark(s) . mutations altering CH2 activity lead to misregulation of the interaction with F-actin without appearing to perturb the ABD structure other than a decrease in stability (Clark 2009)