Sitosterolemia 2 (STSL2)

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OMIM 56 618666 OMIM Phenotypic Series 56 PS210250

MeSH 43 D008052 MedGen 41 CN262848

OMIM : ⁵⁶ 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. (618666)

MalaCards based summary : Sitosterolemia 2, also known as stsl2, is related to arcus corneae and homozygous familial hypercholesterolemia. An important gene associated with Sitosterolemia 2 is ABCG5 (ATP Binding Cassette Subfamily G Member 5), and among its related pathways/superpathways are Lipoprotein metabolism and Angiopoietin Like Protein 8 Regulatory Pathway.

UniProtKB/Swiss-Prot : ⁷³ Sitosterolemia 2: A form of sitosterolemia, an autosomal recessive metabolic disorder characterized by unregulated intestinal absorption of cholesterol, phytosterols and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease.

Clinical features from OMIM:

618666

Search Clinical Trials , NIH Clinical Center for Sitosterolemia 2

Search GEO for disease gene expression data for Sitosterolemia 2.