/peroxisome biogenesis disorder

peroxisome biogenesis disorder

Rare Disease

MONDO:0019234

Also Known As

PBD, ZSSPBD-ZSDperoxisomal biogenesis disordersperoxisomal biogenesis disorders, Zellweger syndrome spectrumperoxisome biogenesis disorderperoxisome biogenesis disorder spectrumperoxisome biogenesis disorder-Zellweger syndrome spectrumperoxisome biogenesis disorders, Zellweger syndrome spectrumcerebrohepatorenal syndromePBD-ZSSPBD-Zellweger spectrum disorderZSDZellweger spectrumZellweger spectrum disorderZellweger spectrum disordersZellweger syndrome spectrumdisorders of peroxisome biogenesis

Definition

Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).