peroxisomal biogenesis disorder

Introduction

A group of related disorders.

Classification

• Zwellenger spectrum disorders is an overlapping group of disorders
  • Zellweger syndrome
  • neonatal adrenoleukodystrophy
  • infantile Refsum disease
• classical rhizomelic chondrodysplasia punctata
  • distinct from Zwellenger spectrum disorders
  • genetically heterogeneous with at least 14 distinct complementation groups

Pathology

• failure of protein import into the peroxisomal membrane or or peroxisomal matrix

Genetics

• 14 complementation groups
  • group 1 associated with defects in PEX1
  • group 3 associated with defects in PEX12
  • group 4 associated with defects in PEX6
  • group 5 associated with defects in PEX2
  • group 7 associated with defects in PEX10
  • group 8 associated with defects in PEX26
  • group 9 associated with defects in PEX16
  • group 11 associated with defects in PEX7
  • group 12 associated with defects in PEX3
  • group 13 associated with defects in PEX13
  • group 14 associated with defects in PEX13
  • group K associated with defects in PEX19

More general terms

• peroxisomal disorder

More specific terms

• neonatal adrenoleukodystrophy
• pseudoneonatal adrenoleukodystrophy; peroxisomal acyl-CoA oxidase deficiency
• rhizomelic chondrodysplasia punctata
• Zellweger syndrome; cerebrohepatorenal syndrome

Database

• OMIM: https://mirror.omim.org/entry/601539
• OMIM: https://mirror.omim.org/entry/600279
• OMIM: https://mirror.omim.org/entry/602136
• OMIM: https://mirror.omim.org/entry/602859
• OMIM: https://mirror.omim.org/entry/601791