MeSH Browser

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: 121
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

Concept UI: M0531806
Registry Number: 0
Terms: Sitosterolemia Preferred Term
Term UI T742275
Date02/24/2009
LexicalTag NON
ThesaurusID; Pseudohomozygous familial hypercholesterolemia
Term UI T742278
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Plant sterol storage disease
Term UI T742279
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Phytosterolemia
Term UI T742277
Date02/24/2009
LexicalTag NON
ThesaurusID

Sitosterolemia MeSH Supplementary Concept Data 2023