Sitosterolemia

A hereditary autosomal recessive disorder that is characterized by the unregulated intestinal absorption of both CHOLESTEROL and PHYTOSTEROLS. Patients have very high plasma levels of phytosterols and develop XANTHOMA at tendons and joints (tuberous xanthoma), ATHEROSCLEROSIS, and premature CORONARY ARTERY DISEASE. Mutations in the ABCG5 and ABCG8 genes have been identified. OMIM: 210250

Also Known As:

Macrothrombocytopenia-Stomatocytosis, Mediterranean; Phytosterolemia; Plant sterol storage disease; Pseudohomozygous familial hypercholesterolemia

Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Lipid Metabolism
      - Sitosterolemia: 291
  - Lipid Metabolism Disorders: 987
    - Dyslipidemias: 18780
      - Hyperlipidemias: 16526
        Hypercholesterolemia: 15320
        Sitosterolemia: 291
    - Inborn Errors Lipid Metabolism
      - Sitosterolemia: 291
Digestive System Diseases: 1068
- Gastrointestinal Diseases: 6062
  - Intestinal Diseases: 1640
    - Sitosterolemia: 291
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Lipid Metabolism
      - Sitosterolemia: 291
Polycyclic Compounds: 7
- Fused-Ring Compounds
  - Steroids: 71426
    - Cholestanes
      - Sterols: 2295
        Phytosterols: 1093
        Sitosterolemia: 291
Lipids: 118169
- Membrane Lipids: 1619
  - Sterols: 2295
    - Phytosterols: 1093
      - Sitosterolemia: 291
Biological Factors: 2560
- Phytochemicals: 6115
  - Phytosterols: 1093
    - Sitosterolemia: 291

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Drug/Important Bio-Agent (IBA)