Details of Disease

General Information of Disease (ID: DISV9IUH)

Disease Name Peroxisome biogenesis disorder 2A (Zellweger)
Synonyms peroxisome biogenesis disorder, complementation group 2; PBD2A; peroxisome biogenesis disorder 2A (Zellweger)
Disease Hierarchy
DISLQ5JU: Peroxisome biogenesis disorder due to PEX5 defect
DISV9IUH: Peroxisome biogenesis disorder 2A (Zellweger)
Disease Identifiers
MONDO ID
MONDO_0008954
UMLS CUI
C3550273
OMIM ID
214110
MedGen ID
763187

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PEX5 OTK4LMG7 Strong Autosomal recessive [1]
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References

1 Mitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (PEX5 knockout mouse). Am J Pathol. 2001 Oct;159(4):1477-94. doi: 10.1016/S0002-9440(10)62534-5.