Zellweger Syndrome (ZS)

Alias:
Cerebrohepatorenal Syndrome
Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Severe Pbd-Zsd
Zs
Congenital Iron Overload
Zellweger Leukodystrophy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Zellweger Syndrome, also known as cerebrohepatorenal syndrome, is related to peroxisome biogenesis disorder 1a and zellweger spectrum disorder, and has symptoms including seizures An important gene associated with Zellweger Syndrome is PEX2 (Peroxisomal Biogenesis Factor 2), and among its related pathways/superpathways are Peroxisomal lipid metabolism and Protein ubiquitination. The drugs Cholic Acids and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include liver and eye, and related phenotypes are failure to thrive and eeg abnormality
Related ID:
MESH:D015211

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/100000
115
653
45

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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