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Sitosterolemia
Disease 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 ABCG5 (2p21) and ABCG8 (2p21) genes.
ORPHA:2882
Classification level: DisorderDetailed information
Professionals
- Clinical practice guidelines
- Deutsch (2015)
- Guidance for genetic testing
- English (2016)
- Clinical genetics review
- English (2020)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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