Details of Disease

General Information of Disease (ID: DISDO833)

Disease Name Peroxisome biogenesis disorder 1A (Zellweger)
Synonyms peroxisome biogenesis disorder, complementation group E; peroxisome biogenesis disorder, complementation group 1; PBD1A; Zs; Cerebrohepatorenal syndrome; peroxisome biogenesis disorder 1A (Zellweger)
Disease Hierarchy
DISHYR28: Peroxisome biogenesis disorder due to PEX1 defect
DISDO833: Peroxisome biogenesis disorder 1A (Zellweger)
Disease Identifiers
MONDO ID
MONDO_0008953
UMLS CUI
C4721541
OMIM ID
214100
MedGen ID
1648474

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PEX10 OTOCZCFA Strong Biomarker [1]
PEX1 OTQJF0V7 Definitive Autosomal recessive [2]
PEX19 OTQIDE9Z Definitive Autosomal recessive [3]
PEX26 OT5AM0BM Definitive Autosomal recessive [4]
PEX5 OTK4LMG7 Definitive Autosomal recessive [5]
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References

1 Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients. Hum Mutat. 2000;15(6):509-21. doi: 10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
4 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.
5 Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nat Genet. 1995 Feb;9(2):115-25. doi: 10.1038/ng0295-115.