Xanthomatosis

Alias:
Xanthomatosis, Susceptibility to
Xanthelasmatosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Xanthomatosis, also known as xanthelasmatosis, is related to familial lipoprotein lipase deficiency and cerebrotendinous xanthomatosis, and has symptoms including macule An important gene associated with Xanthomatosis is CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Benzocaine and Atorvastatin have been mentioned in the context of this disorder. Affiliated tissues include skin and bone marrow, and related phenotypes are hypercholesterolemia and abnormality of the skin
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Basic Information

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

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Description
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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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