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GENATLAS PHENOTYPE

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

Remark(s)

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)