Details of Disease

General Information of Disease (ID: DISM5CI9)

Disease Name Peroxisome biogenesis disorder 7A (Zellweger)
Synonyms peroxisome biogenesis disorder, complementation group 8; peroxisome biogenesis disorder, complementation group A; PBD7A; peroxisome biogenesis disorder 7A (Zellweger)
Disease Hierarchy
DIS9AEWG: Peroxisome biogenesis disorder due to PEX26 defect
DISM5CI9: Peroxisome biogenesis disorder 7A (Zellweger)
Disease Identifiers
MONDO ID
MONDO_0013938
UMLS CUI
C3888385
OMIM ID
614872
MedGen ID
854881

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
PEX26 OT5AM0BM Strong Autosomal recessive [1]
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References

1 Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. Am J Hum Genet. 2003 Aug;73(2):233-46. doi: 10.1086/377004. Epub 2003 Jul 8.