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peroxisomal biogenesis disorder
A group of related disorders.
Classification:
1) Zwellenger spectrum disorders is an overlapping group of disorders
a) Zellweger syndrome
b) neonatal adrenoleukodystrophy
c) infantile Refsum disease
2) classical rhizomelic chondrodysplasia punctata
a) distinct from Zwellenger spectrum disorders
b) 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
Specific
neonatal adrenoleukodystrophy
pseudoneonatal adrenoleukodystrophy; peroxisomal acyl-CoA oxidase deficiency
rhizomelic chondrodysplasia punctata
Zellweger syndrome; cerebrohepatorenal syndrome
General
peroxisomal disorder
Database Correlations
OMIM correlations
MORBIDMAP correlations
References
- OMIM :accession 601539
OMIM :accession 600279
- UniProt :accession P40855