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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 rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.


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Detailed information

Clinical genetics review
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