Sitosterolemia 1 (STSL1)

Sitosterolemia 1, also known as phytosterolemia, is related to hypercholesterolemia, familial, 1 and sitosterolemia 2. An important gene associated with Sitosterolemia 1 is ABCG8 (ATP Binding Cassette Subfamily G Member 8), and among its related pathways/superpathways are Angiopoietin-like protein 8 regulatory pathway and Disorders of transmembrane transporters. The drugs Ezetimibe and Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver and spinal cord, and related phenotypes are splenomegaly and anemia