Peroxisome Biogenesis Disorder 5a (PBD5A)

Alias:
Pbd5a
Peroxisome Biogenesis Disorder Complementation Group 10
Peroxisome Biogenesis Disorder Complementation Group 5
Peroxisome Biogenesis Disorder Complementation Group F
Peroxisome Biogenesis Disorder, Type 5a
Zellweger Syndrome 3
Pbd-Cg10
Pbd-Cg5
Pbd-Cgf
Zws3
Cg5
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Peroxisome Biogenesis Disorder 5a, also known as pbd5a, is related to peroxisome biogenesis disorder 5b and breast cancer, and has symptoms including icterus and seizures. An important gene associated with Peroxisome Biogenesis Disorder 5a is PEX2 (Peroxisomal Biogenesis Factor 2). Affiliated tissues include liver and eye, and related phenotypes are high forehead and hypotonia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
3
15

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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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
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IF
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