KEGG   DISEASE: Sitosterolemia
Entry
H00152                      Disease                                
Name
Sitosterolemia
  Supergrp
Macrothrombocytopenia [DS:H01740]
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C52  Inborn errors of lipid metabolism
     H00152  Sitosterolemia
Pathway
hsa02010  ABC transporters
hsa04975  Fat digestion and absorption
hsa04979  Cholesterol metabolism
hsa04976  Bile secretion
Gene
(STSL1) ABCG8 [HSA:64241] [KO:K05684]
(STSL2) ABCG5 [HSA:64240] [KO:K05683]
Drug
Ezetimibe [DR:D01966]
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
Reference
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
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