sitosterolemia 1
Findings
No curated finding names sitosterolemia 1 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 ABCG8 gene, characterized by increased intestinal absorption and reduced biliary excretion of plant sterols, leading to markedly elevated plasma sitosterol and related phytosterols, xanthomas, and premature atherosclerosis/coronary disease. Some patients develop hematologic manifestations, including stomatocytic hemolysis, macrothrombocytopenia, splenomegaly, and abnormal bleeding. In some cases the hematologic phenotype can be the presenting or only sign. Biallelic loss‑of‑function variants in ABCG8 impair the heterodimeric transporter that normally limits sterol absorption and promotes biliary sterol excretion, explaining the biochemical and clinical findings.
Definition from the Mondo Disease Ontology (MONDO:0020747), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
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.
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- Carotid artery stenosisHPOHP:0100546
- 1 of 1 reported patient
- Corneal arcusHPOHP:0001084
- 1 of 1 reported patient
- Coronary artery atherosclerosisHPOHP:0001677
- 1 of 1 reported patient
- Decreased circulating haptoglobin concentrationHPOHP:0020181
- 1 of 1 reported patient
- Giant plateletsHPOHP:0001902
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.
- ABCG5HGNC:13886
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- ABCG8HGNC:13887
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: sitosterolemia 1
- Also called
- ABCG8-related sitosterolemiaSTSL1