Peroxisomal Disease

Alias:
Peroxisomal Disorders
Peroxisomal Disorder
Peroxisomal Defects
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Peroxisomal Disease, also known as peroxisomal disorders, is related to rhizomelic chondrodysplasia punctata, type 3 and retinal dystrophy with leukodystrophy. An important gene associated with Peroxisomal Disease is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drugs Betaine and Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver and brain, and related phenotypes are homeostasis/metabolism and growth/size/body region
Related ID:
MESH:D018901
ICD11:782299726

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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37
221
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Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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CAS Number
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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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