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GENATLAS PHENOTYPE
last update : 18/10/2008
Symbol STSL
Location 2p21
Name sitosterolemia
Other name(s) phytosterolemia
Corresponding gene ABCG8 , ABCG5
Main clinical features
  • characterized by tendon and tuberous xanthomas, premature atherosclerosis and coronary artery disease with hyper cholesterolemia, and elevation of phytosterols due to hyperabsorption os sterols and low secretion to the bile, responsive to diet and bile acid acid resine treatment
  • general absence of corneal arcus and several additional key symptoms including recurrent joint arthritis often affecting knees and ankles, splenomegaly, hemolysis and platelet abnormalities
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/lipoprotein-lipid
    Type disease
    Gene product
    Name . ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1) . ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense     nonsense mutations in either ABCG5 or ABCG8
    Remark(s)