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ENSitosterolemia
Alias:
Phytosterolemia
Beta-Sitosterolemia
Sitosterolemia with Xanthomatosis
Plant Sterol Storage Disease
Phytosterolaemia
Phytosterolæmia
Sitosterolaemia
Sitosterolæmia
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Sitosterolemia, also known as phytosterolemia, is related to sitosterolemia 1 and sitosterolemia 2, and has symptoms including abdominal pain An important gene associated with Sitosterolemia is ABCG5 (ATP Binding Cassette Subfamily G Member 5), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Ezetimibe and Gamma-sitosterol have been mentioned in the context of this disorder. Affiliated tissues include heart and skin, and related phenotypes are Increased free cholesterol and homeostasis/metabolism
Related ID：
MESH：C537345
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