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Elevated circulating cholestanol concentration

MedGen UID:
1052828
•Concept ID:
CN377358
•
Finding
HPO: HP:6000527

Definition

The concentration of cholestanol in the blood circulation is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated circulating cholestanol concentration

Recent clinical studies

Diagnosis

Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols.
DeBarber AE, Schaefer EJ, Do J, Ray JW, Larson A, Redder S, Fowler M, Duell PB
J Clin Lipidol 2024 May-Jun;18(3):e465-e476. Epub 2024 Mar 15 doi: 10.1016/j.jacl.2024.03.004. PMID: 38637260

Therapy

Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols.
DeBarber AE, Schaefer EJ, Do J, Ray JW, Larson A, Redder S, Fowler M, Duell PB
J Clin Lipidol 2024 May-Jun;18(3):e465-e476. Epub 2024 Mar 15 doi: 10.1016/j.jacl.2024.03.004. PMID: 38637260

Clinical prediction guides

The mechanism of the hypocholesterolaemic effect of activated charcoal.
Neuvonen PJ, Kuusisto P, Manninen V, Vapaatalo H, Miettinen TA
Eur J Clin Invest 1989 Jun;19(3):251-4. doi: 10.1111/j.1365-2362.1989.tb00226.x. PMID: 2509211

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