Peroxisome Biogenesis Disorder 1b (PBD1B)

Alias:
Peroxisome Biogenesis Disorder
Infantile Refsum Disease
Infantile Phytanic Acid Storage Disease
Refsum Disease, Infantile
Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Peroxisome Biogenesis Disorder Spectrum
Mild Pbd-Zsd
Pbd-Zsd
Pbd1b
Ird
Adrenoleukodystrophy, Autosomal Neonatal
Autosomal Neonatal Adrenoleukodystrophy
Peroxisome Biogenesis Disorder, Type 1b
Peroxisome Biogenesis Disorders
Zellweger Spectrum Disorder
Infantile Refsum's Disease
Refsum Disease Infantile
Hyperpipecolic Acidaemia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Peroxisome Biogenesis Disorder 1b, also known as peroxisome biogenesis disorder, is related to peroxisome biogenesis disorder 1a and peroxisome biogenesis disorder 2b, and has symptoms including seizures An important gene associated with Peroxisome Biogenesis Disorder 1b is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways/superpathways are Peroxisomal lipid metabolism and Protein ubiquitination. The drugs Betaine 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 global developmental delay
Related ID:
MESH:D052919
ICD11:1919322367

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
1-9/1000000
68
404
154

Medical Symptom

#
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

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PMID
Journal
Year
IF
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