Cholesterol Ester Storage Disease

MeSH 搜索器

Cholesterol Ester Storage Disease

An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.

推出的年份: 1989

树号: C16.320.565.398.641.201, C16.320.565.595.201, C18.452.584.563.641.201, C18.452.648.398.641.201, C18.452.648.595.201

MeSH 单一 ID: D015217

进入的组:

Cholesteryl Ester Storage Disease

早前的内容:

Cholesterol Esters (1978-1988)
Lipase (1966-1988)
Lipid Metabolism, Inborn Errors (1966-1988)
Lipoidosis (1966-1988)

All MeSH Categories
- Diseases Category
  - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
    - Genetic Diseases, Inborn [C16.320]
      - Metabolism, Inborn Errors [C16.320.565]
        
        Lipid Metabolism, Inborn Errors [C16.320.565.398]
        
        Lipidoses [C16.320.565.398.641]
        
        Cholesterol Ester Storage Disease [C16.320.565.398.641.201]
        
        Wolman Disease [C16.320.565.398.641.201.500]
        
        Neuronal Ceroid-Lipofuscinoses [C16.320.565.398.641.509]
        
        Sjogren-Larsson Syndrome [C16.320.565.398.641.723]
        
        Sphingolipidoses [C16.320.565.398.641.803] add_circle

All MeSH Categories
- Diseases Category
  - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
    - Genetic Diseases, Inborn [C16.320]
      - Metabolism, Inborn Errors [C16.320.565]
        
        Lysosomal Storage Diseases [C16.320.565.595]
        
        Aspartylglucosaminuria [C16.320.565.595.100]
        
        Cholesterol Ester Storage Disease [C16.320.565.595.201]
        
        Wolman Disease [C16.320.565.595.201.500]
        
        Cystinosis [C16.320.565.595.377]
        
        Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554] add_circle
        
        Mannosidase Deficiency Diseases [C16.320.565.595.577] add_circle
        
        Mucopolysaccharidoses [C16.320.565.595.600] add_circle
        
        Pycnodysostosis [C16.320.565.595.800]

All MeSH Categories
- Diseases Category
  - Nutritional and Metabolic Diseases [C18]
    - Metabolic Diseases [C18.452]
      - Lipid Metabolism Disorders [C18.452.584]
        
        Lipid Metabolism, Inborn Errors [C18.452.584.563]
        
        Lipidoses [C18.452.584.563.641]
        
        Cholesterol Ester Storage Disease [C18.452.584.563.641.201]
        
        Wolman Disease [C18.452.584.563.641.201.500]
        
        Neuronal Ceroid-Lipofuscinoses [C18.452.584.563.641.509]
        
        Sjogren-Larsson Syndrome [C18.452.584.563.641.723]
        
        Sphingolipidoses [C18.452.584.563.641.803] add_circle

All MeSH Categories
- Diseases Category
  - Nutritional and Metabolic Diseases [C18]
    - Metabolic Diseases [C18.452]
      - Metabolism, Inborn Errors [C18.452.648]
        
        Lipid Metabolism, Inborn Errors [C18.452.648.398]
        
        Lipidoses [C18.452.648.398.641]
        
        Cholesterol Ester Storage Disease [C18.452.648.398.641.201]
        
        Wolman Disease [C18.452.648.398.641.201.500]
        
        Neuronal Ceroid-Lipofuscinoses [C18.452.648.398.641.509]
        
        Sjogren-Larsson Syndrome [C18.452.648.398.641.723]
        
        Sphingolipidoses [C18.452.648.398.641.803] add_circle

All MeSH Categories
- Diseases Category
  - Nutritional and Metabolic Diseases [C18]
    - Metabolic Diseases [C18.452]
      - Metabolism, Inborn Errors [C18.452.648]
        
        Lysosomal Storage Diseases [C18.452.648.595]
        
        Aspartylglucosaminuria [C18.452.648.595.100]
        
        Cholesterol Ester Storage Disease [C18.452.648.595.201]
        
        Wolman Disease [C18.452.648.595.201.500]
        
        Cystinosis [C18.452.648.595.377]
        
        Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554] add_circle
        
        Mannosidase Deficiency Diseases [C18.452.648.595.577] add_circle
        
        Mucopolysaccharidoses [C18.452.648.595.600] add_circle
        
        Pycnodysostosis [C18.452.648.595.800]

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Cholesterol Ester Storage Disease

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