Sitosterolemia

Orpha code: 2882OMIM code: 618666

Definition

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 <i>ABCG5<i> (2p21) and <i>ABCG8</i> (2p21) genes.

Disease data
Classification

Disease

Synonyms
Phytosterolemia
Fitosterolemia
Ksantomatoza z sitosterolemią
ORPHA code
2882
OMIM code
618666
ICD10 code
E78.0
ICD11 code
5C52.1Y

No additional description.

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