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GENATLAS PHENOTYPE
last update : 13-05-2014
Symbol PBD4
Location 2p16.1
Name peroxisome biogenesis disorder 4, Zellweger spectrum
Other name(s) PBD complementation group 13
Corresponding gene PEX13
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 13 (PEX13), with temperature-sensitive mutations involved in variable severity of the disease, attenuate PBD phenotype, and infantile Refsum disease
    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