peroxisome biogenesis disorder
Findings
No curated finding names peroxisome biogenesis disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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).
Definition from the Mondo Disease Ontology (MONDO:0019234), read 2026-09-29. CC BY 4.0.
Genes
16 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PEX1HGNC:8850
- Definitive · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- PEX10HGNC:8851
- Definitive · ClinGen · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- PEX11BHGNC:8853
- Definitive · ClinGen · Autosomal recessive · 2020
- PEX12HGNC:8854
- Definitive · ClinGen · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- PEX13HGNC:8855
- Definitive · ClinGen · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
7 names
Resolves to: peroxisome biogenesis disorder
- Also called
- PBD-ZSDPBD, ZSSperoxisomal biogenesis disordersperoxisomal biogenesis disorders, Zellweger syndrome spectrumperoxisome biogenesis disorder spectrumperoxisome biogenesis disorder-Zellweger syndrome spectrumperoxisome biogenesis disorders, Zellweger syndrome spectrum