5C57.0
category
Disorders of peroxisome biogenesis
Definition
Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy.
Also indexed as
Cerebrohepatorenal syndromeDisorders of peroxisome biogenesisHyperpipecolic acidaemiaPEX1 deficiencyPEX10 deficiencyPEX12 deficiencyPEX13 deficiencyPEX14 deficiencyPEX16 deficiencyPEX19 deficiencyPEX2 deficiencyPEX26 deficiencyPEX3 deficiencyPEX5 deficiencyPEX6 deficiencyZellweger spectrum disorderZellweger spectrum disorder, mild formZellweger spectrum disorder, severe formZellweger spectrum disorder, unclassified clinical severityZellweger syndrome