sitosterolemia https://rarediseases.info.nih.gov/diseases/7653/sitosterolemia https://www.malacards.org/card/sitosterolemia https://www.malacards.org/card/sitosterolemia_1 phytosterolemia MEDGEN:87466 plant sterol storage disease MESH:C537345 UMLS:C0342907 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. Orphanet:101022 DOID:0090019 MedDRA:10063985 GARD:0007653 STSL OMIMPS:210250 Orphanet:2882 NORD:1911 NANDO:1200853 retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body sitosterolemia MONDO:0008863 NCIT:C125694 SCTID:238104009 OMIMPS:215250 syndromic dyslipidemia