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Sitosterolemia

ORPHA2882
Synonym(s) Phytosterolemia
Xanthomatosis with sisterolemia
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset All ages
ICD-10
  • E78.0
OMIM
UMLS
  • C0342907
MeSH
  • C537345
MedDRA
  • 10063985

Summary

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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Detailed information

Clinical genetics review
  • EN (2013)
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