Conditions / Genetic
sitosterolemia 2
info · Genetic
A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21.
Signs and symptoms
- Hypercholesterolemia
- Tendon xanthomatosis
- Elevated circulating sitosterol concentration
- Premature coronary artery atherosclerosis