Desmosterolosis

Common Name(s)

Desmosterolosis

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 {7:Waterham et al., 2001}).
 

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Condition Specific Organizations

Following organizations serve the condition "Desmosterolosis" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Desmosterolosis" returned 4 free, full-text research articles on human participants. First 3 results:

Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.
 

Author(s): Cristina Dias, Rosemarie Rupps, Benjamin Millar, Kunho Choi, Marco Marra, Michelle Demos, Lisa E Kratz, Cornelius F Boerkoel

Journal:

 

Desmosterolosis is an autosomal recessive disorder of cholesterol biosynthesis caused by biallelic mutations of DHCR24 (homozygous or compound heterozygous), which encodes 3-β-hydroxysterol Δ-24-reductase. We report two sisters homozygous for the 571G>A (E191K) DHCR24 mutation. ...

Last Updated: 1 Jul 2014

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The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.
 

Author(s): Jenny Zolotushko, Hagit Flusser, Barak Markus, Ilan Shelef, Yshaia Langer, Maura Heverin, Ingemar Björkhem, Sara Sivan, Ohad S Birk

Journal: Eur. J. Hum. Genet.. 2011 Sep;19(9):942-6.

 

Desmosterolosis is a rare autosomal recessive disorder of elevated levels of the cholesterol precursor desmosterol in plasma, tissue and cultured cells. With only two sporadic cases described to date with two very different phenotypes, the clinical entity arising from mutations in ...

Last Updated: 18 Aug 2011

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Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.
 

Author(s): H R Waterham, J Koster, G J Romeijn, R C Hennekam, P Vreken, H C Andersson, D R FitzPatrick, R I Kelley, R J Wanders

Journal: Am. J. Hum. Genet.. 2001 Oct;69(4):685-94.

 

Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies. Patients with desmosterolosis have elevated levels of the cholesterol precursor desmosterol, in plasma, tissue, and cultured cells; this abnormality suggests a deficiency of the ...

Last Updated: 5 Sep 2001

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Reviews from the PubMed Database

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The terms "Desmosterolosis" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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