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GTR Home > Conditions/Phenotypes > Sitosterolemia 2


Sitosterolemia, also known as phytosterolemia, is an autosomal recessive metabolic condition characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol. Patients with this disorder have very high levels of plant sterols in the plasma and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease (summary by Berge et al., 2000). For a general phenotypic description and a discussion of genetic heterogeneity of sitosterolemia, see 210250. [from OMIM]

Available tests

17 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: STSL, STSL2, ABCG5
    Summary: ATP binding cassette subfamily G member 5

Clinical features


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