Sitosterolemia
Disorder | |
---|---|
OMIM #: | #210250 (Click to access OMIM database) |
Disorder: | Sitosterolemia |
Also known as: | STSL, PHYTOSTEROLEMIA |
Clinical | |
Phenotype: | increased intestinal absorption and decreased biliary excretion of dietary sterols, hypercholesterolemia, hemolysis, hemolytic anemia, premature coronary atherosclerosis, hyperlipidemia, xanthomas, xanthelasma |
Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
Remarks: | Autosomal recessive |
Mutations |