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Sitosterolemia MeSH Supplementary Concept Data 2023


MeSH Supplementary
Sitosterolemia
Unique ID
C537345
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537345
Entry Term(s)
Macrothrombocytopenia-Stomatocytosis, Mediterranean
Phytosterolemia
Plant sterol storage disease
Pseudohomozygous familial hypercholesterolemia
Registry Number
0
Heading Mapped to
*Hypercholesterolemia
*Intestinal Diseases
*Lipid Metabolism, Inborn Errors
Phytosterols / *adverse effects
Frequency
115
Note
A hereditary autosomal recessive disorder that is characterized by the unregulated intestinal absorption of both CHOLESTEROL and PHYTOSTEROLS. Patients have very high plasma levels of phytosterols and develop XANTHOMA at tendons and joints (tuberous xanthoma), ATHEROSCLEROSIS, and premature CORONARY ARTERY DISEASE. Mutations in the ABCG5 and ABCG8 genes have been identified. OMIM: 210250
Date of Entry
2010/08/25
Revision Date
2015/11/12
Sitosterolemia Preferred
Macrothrombocytopenia-Stomatocytosis, Mediterranean Related
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