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last update : 07-02-2009
Symbol PBD3
Location 12p13.31
Name peroxisome biogenesis disorder 3, Zellweger spectrum
Other name(s) complementation group 2
Corresponding gene PEX5
Other symbol(s) ZWS4, NALD, IRD
Main clinical features
  • peroxisomal biogenesis defects can be divided into two broad clinical spectra: the Zellweger spectrum(ZSS, 80 percent of PBD patients) and rhizomelia chondrodysplasia punctata (RCPD) spectrum
  • the clinical continuum of PBD-ZSS patients extends from Zellweger syndrome (ZS) as the prototype and the most severe entity of this group to neonatal adrenoleukodystrophy (NALD) as an intermediate form and infantile Refsum (IRD) disease as the least severe variant
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/peroxisomal
    Type disease
    Gene product
    Name peroxisomal targeting signal 1 receptor
    Genotype/Phenotype correlations
  • most of the detected mutations are located in the C -terminal half of PEX5
  • mutations in the N-terminal half could give rise to a
  • milder presentation, or to clinical and biochemical phenotypes that differ from those observed for ZS (Ebberink 2009)