sitosterolemia 2
Findings
No curated finding names sitosterolemia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any sitosterolemia caused by a variation in the ABCG5 gene, characterized by markedly increased intestinal absorption and reduced biliary excretion of plant sterols, resulting in extremely elevated plasma sitosterol levels, tendon and tuberous xanthomas, and premature atherosclerosis. A subset of affected individuals develop hematologic manifestations, including stomatocytic hemolysis, macrothrombocytopenia, splenomegaly, and abnormal bleeding, and in some cases these hematologic findings may be the initial or only clinical signs. Biallelic loss‑of‑function variants in ABCG5 impair the heterodimeric ABCG5/ABCG8 transporter required for limiting dietary sterol uptake and promoting biliary excretion, leading to membrane sterol accumulation in multiple blood cell types.
Definition from the Mondo Disease Ontology (MONDO:0020748), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 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.
- HypercholesterolemiaHPOHP:0003124
- 11 of 11 reported patients
- Tendon xanthomatosisHPOHP:0010874
- 11 of 11 reported patients
- Elevated circulating sitosterol concentrationHPOHP:0033341
- Premature coronary artery atherosclerosisHPOHP:0005181
Genes
1 gene
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.
- ABCG5HGNC:13886
- Definitive · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: sitosterolemia 2
- Also called
- ABCG5-related sitosterolemiaSTSL2