Sitosterolemia 2 (STSL2)

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OMIM® 57 618666 OMIM Phenotypic Series 57 PS210250 MeSH 44 D008052

MedGen 41 CN262848 SNOMED-CT via HPO 68 13644009 166830008 258211005 69880002 more

OMIM® : ⁵⁷ 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) (Updated 05-Mar-2021)

MalaCards based summary : Sitosterolemia 2, also known as stsl2, is related to gallbladder disease 4 and gallbladder disease. 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. Related phenotypes are hypercholesterolemia and tendon xanthomatosis

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 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Sitosterolemia 2

Search GEO for disease gene expression data for Sitosterolemia 2.