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Pathway Description
Desmosterolosis
Homo sapiens
Disease Pathway
Created: 2013-08-01
Last Updated: 2022-11-09
Desmosterolosis is caused by a mutation in the DHCR24 gene, which codes for the enzyme 24-dehydrocholesterol reductase, which catalyzes the reduction of the delta-24 double bond of sterol intermediates. A defect in 24-dehydrocholesterol reductase causes accumulation of desmosterol in plasma. Symptoms include cleft palate, clubfoot, dysmorphism, mental and motor retardation, and speech development.
References
Desmosterolosis References
[OMIM: Entry 602398](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602398)
[Metagene: mp=DESMOSTEROLOSIS](http://www.metagene.de/program/d.prg?mp=DESMOSTEROLOSIS)
Andersson HC, Kratz L, Kelley R: Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay. Am J Med Genet. 2002 Dec 15;113(4):315-9. doi: 10.1002/ajmg.b.10873.
Pubmed: 12457401
FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous ME, Mills K, Winter RM, Clayton PT: Clinical phenotype of desmosterolosis. Am J Med Genet. 1998 Jan 13;75(2):145-52.
Pubmed: 9450875
Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ: Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Am J Hum Genet. 2001 Oct;69(4):685-94. doi: 10.1086/323473. Epub 2001 Aug 22.
Pubmed: 11519011
Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M: Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. Am J Med Genet A. 2011 Jul;155A(7):1597-604. doi: 10.1002/ajmg.a.34040. Epub 2011 Jun 10.
Pubmed: 21671375
Mirza R, Hayasaka S, Kaji T, Murata Y, Seo H: SEVERE LUNG HYPOPLASIA IS OBSERVED IN DHCR24-KNOCKOUT MICE: A MOUSE MODEL OF DESMOSTEROLOSIS. Pediatrics. 2008 Jan 01;121:S154. doi: 10.1542/peds.2007-2022RRRRRR.
Steroid Biosynthesis References
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Pubmed: 14702039
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Pubmed: 14574404
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Pubmed: 1358203
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Pubmed: 7913309
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Pubmed: 11313768
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Pubmed: 14730012
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Pubmed: 10369261
Chambliss KL, Slaughter CA, Schreiner R, Hoffmann GF, Gibson KM: Molecular cloning of human phosphomevalonate kinase and identification of a consensus peroxisomal targeting sequence. J Biol Chem. 1996 Jul 19;271(29):17330-4. doi: 10.1074/jbc.271.29.17330.
Pubmed: 8663599
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Pubmed: 15489334
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Pubmed: 10191291
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Pubmed: 9392419
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