Sitosterolemia is an autosomal recessive disorder caused by mutations of the ABCG5 and ABCG8 genes. It is characterized by unresricted enteral uptake of cholesterol and other cholesterole-lime compound such as sitosterol which results in hypercholesterolemia with tendon xanthomas and accelerated arteriosclerosis.
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None (1980) Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease: a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis. |
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Berge KE et al. (2000) Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. |
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Lee MH et al. (2001) Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. |
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Repa JJ et al. (2002) Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors alpha and beta. |
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Lu K et al. (2002) Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8. |
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Matsuura T et al. (2002) Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency. |
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Yu L et al. (2002) Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion. |
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Sehayek E et al. (2002) Loci on chromosomes 14 and 2, distinct from ABCG5/ABCG8, regulate plasma plant sterol levels in a C57BL/6J x CASA/Rk intercross. |
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None (2003) Role of ABC transporters in secretion of cholesterol from liver into bile. |
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OMIM.ORG article Omim 210250 |
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Orphanet article Orphanet ID 2882 |
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Wikipedia article Wikipedia EN (Sitosterolemia) |