H00152 | |
H number | H00152 |
Name | Sitosterolemia |
Description | Sitosterolemia is an autosomal recessive lipid disorder caused by mutation in the ABC transporter gene and characterized by elevated plasma levels of plant sterols due to increased intestinal absorption and reduced biliary secretion of neutral sterols. |
Category | Inherited metabolic disorder |
Network | - |
Gene | (STSL1) ABCG8 [HSA:64241] [KO:K05684] (STSL2) ABCG5 [HSA:64240] [KO:K05683] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Ezetimibe [DR:D01966] |
Comment | - |
Other DBs | ICD-11: 5C52.1Y ICD-10: E78.5 MeSH: C537345 OMIM: 210250 618666 |
Reference | PMID:15599566 AUTHORS Sudhop T, von Bergmann K TITLE Sitosterolemia--a rare disease. Are elevated plant sterols an additional risk factor? JOURNAL Z Kardiol 93:921-8 (2004) DOI:10.1007/s00392-004-0165-2 PMID:11264985 (ABCG5_8) AUTHORS Lee MH, Lu K, Patel SB TITLE Genetic basis of sitosterolemia. JOURNAL Curr Opin Lipidol 12:141-9 (2001) DOI:10.1097/00041433-200104000-00007 |