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sitosterolemia

Disease Summary
Associated Targets (3)
Tbio

2

Tclin

1


Uniprot Description Rare autosomal recessive disorder characterized by increased intestinal absorption of all sterols including cholesterol, plant and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Sitosterolemia patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease.
Disease Ontology Description An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21.
DataSource References
DisGeNET: C0342907
JensenLab Text Mining: DOID:0090019
DrugCentral Indication: DOID:0090019
JensenLab Knowledge GHR: DOID:0090019
CTD: DOID:0090019
UniProt Disease: MIM:210250
Monarch: OMIM:210250
Target Novelty (Tin-x)