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Synonym(s) Phytosterolemia
Xanthomatosis with sisterolemia
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset All ages
  • E78.0
  • C0342907
  • C537345
  • 10063985


Sitosterolemia is a genetic disorder caused by dysregulation of cholesterol absorption and accumulation of sterols, notably those of plant origin (hence the synonym, phytosterolemia). The clinical characteristics include xanthomas, premature coronary atherosclerosis, hemolytic anemia and/or hepatopathy. The disease has been associated with mutations in two genes mapped to the STSL locus: ABCG5 and ABCG8 (2p21).

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Clinical genetics review
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