STSL2
MCID: STS011
MIFTS: 34
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Sitosterolemia 2 (STSL2)
Categories:
Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Sitosterolemia 2:Characteristics:HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Endocrine diseases Gastrointestinal diseases |
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. |
Human phenotypes related to Sitosterolemia 2:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618666 (Updated 05-Mar-2021) |
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Articles related to Sitosterolemia 2:(show all 14)
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ClinVar genetic disease variations for Sitosterolemia 2:6
UniProtKB/Swiss-Prot genetic disease variations for Sitosterolemia 2:73
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Search
GEO
for disease gene expression data for Sitosterolemia 2.
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Pathways related to Sitosterolemia 2 according to GeneCards Suite gene sharing:
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Cellular components related to Sitosterolemia 2 according to GeneCards Suite gene sharing:
Biological processes related to Sitosterolemia 2 according to GeneCards Suite gene sharing:(show all 15)
Molecular functions related to Sitosterolemia 2 according to GeneCards Suite gene sharing:
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