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2014 MeSH

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Xanthomatosis, Cerebrotendinous
MeSH HeadingXanthomatosis, Cerebrotendinous
Tree NumberC16.320.565.398.925
Tree NumberC18.452.584.750.975
Tree NumberC18.452.648.398.925
Scope NoteAn autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.
Entry TermCerebral Cholesterinosis
Entry TermCerebrotendinous Xanthomatosis
Entry TermVan Bogaert-Scherer-Epstein Disease
Allowable QualifiersBL CF CI CL CO DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RA RH RI RT SU TH UR US VE VI
Previous Indexing Xanthomatosis (1968-1996)
History Note97
Date of Entry19960610
Unique IDD019294


MeSH Tree Structures

 
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]
Barth Syndrome [C16.320.565.398.224]
Hyperlipidemia, Familial Combined [C16.320.565.398.450]
Hyperlipoproteinemia Type I [C16.320.565.398.465]
Hyperlipoproteinemia Type II [C16.320.565.398.481]
Hyperlipoproteinemia Type III [C16.320.565.398.483]
Hyperlipoproteinemia Type IV [C16.320.565.398.487]
Hyperlipoproteinemia Type V [C16.320.565.398.493]
Hypolipoproteinemias [C16.320.565.398.500]  +
Lipidoses [C16.320.565.398.641]  +
Lipodystrophy, Congenital Generalized [C16.320.565.398.745]
Smith-Lemli-Opitz Syndrome [C16.320.565.398.850]
Arrow pointing to current tree nodeXanthomatosis, Cerebrotendinous [C16.320.565.398.925]

 
Nutritional and Metabolic Diseases [C18]
   Metabolic Diseases [C18.452]
      Lipid Metabolism Disorders [C18.452.584]
         Xanthomatosis [C18.452.584.750]
Necrobiotic Xanthogranuloma [C18.452.584.750.487]
Arrow pointing to current tree nodeXanthomatosis, Cerebrotendinous [C18.452.584.750.975]

 
Nutritional and Metabolic Diseases [C18]
   Metabolic Diseases [C18.452]
      Metabolism, Inborn Errors [C18.452.648]
         Lipid Metabolism, Inborn Errors [C18.452.648.398]
Barth Syndrome [C18.452.648.398.224]
Hyperlipidemia, Familial Combined [C18.452.648.398.450]
Hyperlipoproteinemia Type I [C18.452.648.398.465]
Hyperlipoproteinemia Type II [C18.452.648.398.481]
Hyperlipoproteinemia Type III [C18.452.648.398.483]
Hyperlipoproteinemia Type IV [C18.452.648.398.487]
Hyperlipoproteinemia Type V [C18.452.648.398.493]
Hypolipoproteinemias [C18.452.648.398.500]  +
Lipidoses [C18.452.648.398.641]  +
Lipodystrophy, Congenital Generalized [C18.452.648.398.745]
Smith-Lemli-Opitz Syndrome [C18.452.648.398.850]
Arrow pointing to current tree nodeXanthomatosis, Cerebrotendinous [C18.452.648.398.925]

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