sitosterolemia

Term ID

DOID:0090019

Synonyms

• phytosterolemia

Definition

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. (2)

References

• GARD:7653
• MESH:C537345
• NCI:C125694
• OMIM:210250
• ORDO:2882
• SNOMEDCT_US_2023_03_01:238104009
• UMLS_CUI:C0342907

Ontology

Human Disease   ( DOID:0090019 )