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last update : 07-02-2009
Symbol PBD6
Location 17q21.1
Name peroxisome biogenesis disorder 6, Zellweger spectrum
Other name(s) PGD complementation group 3
Corresponding gene PEX12
Other symbol(s) IRD, ZS, ZWS, NALD
Main clinical features
  • the clinical continuum of Zellweger spectrum 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 peroxin 12 (PEX12)
    Gene mutationChromosome rearrangementEffectComments
    nonsense     nonsense/frameshift/aberrant splicing mutations in most case
    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
    Genotype/Phenotype correlations severe clinical phenotype in most patients