Sitosterolemia
An extremely rare autosomal recessive inherited disorder caused by mutations in the ABCG5 or ABCG8 genes. It is characterized by a defective sterolin transporter that impairs the elimination of plant sterols and, to a lesser degree, cholesterol from the body. These fatty substances build up in the tissues including arteries and skin, resulting in atherosclerosis and xanthomas.
C0342907
C125694
Cellosaurus
Disease or Syndrome
Sitosterolemia
Sitosterolemia
Cellosaurus Disease Terminology
Cellosaurus Terminology
Rare Non-Neoplastic Disorder