46 Sitosterolemia is a rare inherited condition in which plant sterols accumulate in the blood and tissues. plant sterols, including sitosterol, stigmasterol, and campesterol, are fatty substances found in vegetable oils and nuts. individuals with sitosterolemia have extremely high levels of sitosterol (30 to 100 times higher than normal), along with mildly to moderately elevated levels of cholesterol in their blood. these plant sterols and cholesterol build up in the arteries, leading to premature thickening of the artery walls and early heart disease. affected individuals may also develop small yellowish growths called xanthomas on or under the skin and in the tendons. sitosterolemia is caused by mutations in the abcg5 or abcg8 gene. the condition is inherited in an autosomal recessive pattern. treatment involves restricting foods that are high in plant and shellfish sterols, and taking medications that decrease the concentration of these products in the blood
Disease Interacts with Genes
Disease Interacts with Substances
Processes Associated With Trait
Molecular Function Associated With Trait
Biological Processes Associated With Trait
Pathways Associated With Trait
Symptoms Associated With Trait
Selected genes are highlighted in orange, bookmarked
genes are green
- Chemical increases gene,
- Chemical decreases gene,
- Chemical increases and decreases gene simultaneosly,
No arrows - gene doesn't interact with the chemical.
- Gene should be increased/decreased most of the time and the chemical does it.
- Gene should be increased/decreased most of the time but the chemical does the opposite.