Peroxisome Biogenesis Disorder 11a (PBD11A)

Alias:
Pbd11a
Peroxisome Biogenesis Disorder, Complementation Group 13
Peroxisome Biogenesis Disorder Complementation Group 13
Peroxisome Biogenesis Disorder Complementation Group H
Peroxisome Biogenesis Disorder, Type 11a
Pbd-Cg13
Pbd-Cgh
Cg13
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Peroxisome Biogenesis Disorder 11a, also known as pbd11a, is related to peroxisome biogenesis disorder 11b and retinitis pigmentosa 28, and has symptoms including seizures An important gene associated with Peroxisome Biogenesis Disorder 11a is PEX13 (Peroxisomal Biogenesis Factor 13), and among its related pathways/superpathways are 16p11.2 proximal deletion syndrome and HIF Enhancers. Affiliated tissues include liver and eye, and related phenotypes are seizure and failure to thrive
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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10
57
5

Medical Symptom

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

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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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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