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, premature coronary atherosclerosis, hyperlipidemia, xanthomas |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Amish, Unknown / Other Mennonite | |
| Gene: | ABCG8 |
| Base Change: | G>A, at nucleotide 1720 |
| Amino Acid Change: | gly 574 --> arg |
| ReferencesGorski SM, Adams KJ, Birch PH, Chodirker BN, Greenberg CR, Goodfellow PJ. (1994) Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia native kindreds. Human Genet. 94:141-148. PubMed ID: 8045560 2 Hutterite |
|
| Gene: | ABCG8 |
| Base Change: | |
| Amino Acid Change: | ser 107 --> term |
| Last updated: | 2010-06-24 |
| References |
|---|
| Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, Shan B, Barnes R, and Hobbs HH. (2000) Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science 290(5497): 1771-1775. PubMed ID: 11099417 |
| Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB and, Innes AM. (2008) Clinical genetics and the Hutterite population: a review of Mendelian disorders. Am J Med Genet A 146A(8):1088-98. PubMed ID: 18348266 |
| Wang J, Joy T, Mymin D, Frohlich J and, Hegele RA. (2004) Phenotypic heterogeneity of sitosterolemia. J Lipid Res 45(12):2361-7. PubMed ID: 15375183 |
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