5C57.0 Disorders of peroxisome biogenesis

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

synonyms

• Disorders of peroxisome biogenesis
• Zellweger spectrum disorder
• Hyperpipecolic acidaemia
• Zellweger syndrome
• Cerebrohepatorenal syndrome
• Zellweger spectrum disorder, severe form
• Zellweger spectrum disorder, mild form
• Zellweger spectrum disorder, unclassified clinical severity
• PEX1 deficiency
• PEX2 deficiency
• PEX3 deficiency
• PEX5 deficiency
• PEX6 deficiency
• PEX10 deficiency
• PEX12 deficiency
• PEX13 deficiency
• PEX14 deficiency
• PEX16 deficiency
• PEX19 deficiency
• PEX26 deficiency

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