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GENATLAS PHENOTYPE
last update : 09-12-2009
Symbol PPD2
Location 7q36.3
Name preaxial polydactyly type II
Corresponding gene LMBR1 , SHH
Other symbol(s) TPT, TPTPS
Main clinical features
  • opposable or not opposable polydactyly of a triphalangeal thumb (PPD-II) and PPD-III polydactyly of an index finger, TPT, PSDY1
    • Genetic determination autosomal dominant
    autosomal recessive
    Function/system disorder osteo-articular
    Type malformation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     mutation of a regulator ZRS of the SHH gene, lying in an intron of LMBR1 far upstream the coding sequence of SHH
    Remark(s)
  • homolog to murine hammer toe (Hm) and hemimelic extra toes (Hx)
  • mutation in SHH regulatory element that resides in intron 5 of the LMBR1