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Elevated circulating desmosterol concentration

MedGen UID:
1841991
•Concept ID:
C5826783
•
Finding
HPO: HP:0034937

Definition

Concentration of desmosterol in the blood circulation above the upper limit of normal. [from HPO]

Term Hierarchy

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

Conditions with this feature

Desmosterolosis
MedGen UID:
400801
•Concept ID:
C1865596
•
Disease or Syndrome
Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells (summary by Waterham et al., 2001).
See: Condition Record
Desmosterolosis

Recent clinical studies

Etiology

Moderately elevated plant sterol levels are associated with reduced cardiovascular risk--the LASA study.
Fassbender K, Lütjohann D, Dik MG, Bremmer M, König J, Walter S, Liu Y, Letièmbre M, von Bergmann K, Jonker C
Atherosclerosis 2008 Jan;196(1):283-288. Epub 2006 Nov 29 doi: 10.1016/j.atherosclerosis.2006.10.032. PMID: 17137582

Diagnosis

Moderately elevated plant sterol levels are associated with reduced cardiovascular risk--the LASA study.
Fassbender K, Lütjohann D, Dik MG, Bremmer M, König J, Walter S, Liu Y, Letièmbre M, von Bergmann K, Jonker C
Atherosclerosis 2008 Jan;196(1):283-288. Epub 2006 Nov 29 doi: 10.1016/j.atherosclerosis.2006.10.032. PMID: 17137582

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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