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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-01-2009
Symbol PBD7
Location 6q22
Name peroxisomal biogenesis disorder, rhizomelic chondrodysplasia punctata spectrum
Other name(s)
  • PBD complementation group 11 or R
  • rhizomelic chondrodysplasia punctata, type1
  • Refsum disease
  • Corresponding gene PEX7
    Other symbol(s) PEBD7, HMSN4, RCDP
    Main clinical features
  • retinitis pigmentosa, chronic polyneuropathy, and cerebellar signs, with electrocardiographic changes, and deafness and/or ichthyosis
  • Genetic determination autosomal recessive
    Function/system disorder
    Type disease
    Gene product
    Name peroxin7
    Remark(s) peroxisomal biogenesis defects can be divided into two broad clinical spectra : the Zellweger spectrum (80 percent of PBD patients) and rhizomelia chondrodysplasia punctata (RCPD) spectrum