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GENATLAS PHENOTYPE

last update : 29/08/2006

Symbol	PBD10
Location	1p36
Name	peroxisome biogenesis disorder 10, Zellweger spectrum
Other name(s)	PBD complementation group K
Corresponding gene	PEX14
Other symbol(s)	ZS, ZWS
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	peroxisomal membrane protein PEX14

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