sitosterolemia
Findings
No curated finding names sitosterolemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0008863), read 2026-09-29. CC BY 4.0.
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ArthralgiaHPOHP:0002829
- Frequent (30% to 79% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Frequent (30% to 79% of cases)
- Elevated circulating sitosterol concentrationHPOHP:0033341
- Frequent (30% to 79% of cases)
- Giant plateletsHPOHP:0001902
- Frequent (30% to 79% of cases)
- Hemolytic anemiaHPOHP:0001878
- Frequent (30% to 79% of cases)
- HypercholesterolemiaHPOHP:0003124
- Frequent (30% to 79% of cases)
- Macrothrombocytopenia
Show the remaining 1
- Arthralgia/arthritisHPOHP:0005059
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (2)
Other names
1 name
Resolves to: sitosterolemia
- Also called
- phytosterolemia