sitosterolemia
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.
MONDO:0015905
syndromic dyslipidemia
is_a
STSL
related
phytosterolemia
exact
plant sterol storage disease
related
retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body
related
sitosterolemia
exact
SPAPB24D3.09c SPCC18B5.01c