MeSH term | MeSH ID | Detail |
---|---|---|
Chondrodysplasia Punctata | D002806 | 8 associated lipids |
Smith-Lemli-Opitz Syndrome | D019082 | 7 associated lipids |
8-dehydrocholesterol is a lipid of Sterol Lipids (ST) class. 8-dehydrocholesterol is associated with abnormalities such as Congenital Abnormality, Syndrome, Horizontal dissociated gaze palsy and Spontaneous abortion. The involved functions are known as Hypoplasia and Recurrence. 8-dehydrocholesterol often locates in Body tissue, Ulnar, fetal blood and Liver tissue. The associated genes with 8-Dehydrocholesterol are DHCR7 gene. The related lipids are Dehydrocholesterols, 7-dehydrocholesterol, Sterols and 7-dehydrodesmosterol.
To understand associated biological information of 8-Dehydrocholesterol, we collected biological information of abnormalities, associated pathways, cellular/molecular locations, biological functions, related genes/proteins, lipids and common seen animal/experimental models with organized paragraphs from literatures.
8-Dehydrocholesterol is suspected in Congenital Abnormality, Horizontal dissociated gaze palsy, Spontaneous abortion and other diseases in descending order of the highest number of associated sentences.
Disease | Cross reference | Weighted score | Related literature |
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We collected disease MeSH terms mapped to the references associated with 8-Dehydrocholesterol
MeSH term | MeSH ID | Detail |
---|---|---|
Chondrodysplasia Punctata | D002806 | 8 associated lipids |
Smith-Lemli-Opitz Syndrome | D019082 | 7 associated lipids |
There are no associated biomedical information in the current reference collection.
Associated locations are in red color. Not associated locations are in black.
Location | Cross reference | Weighted score | Related literatures |
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Function | Cross reference | Weighted score | Related literatures |
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Lipid concept | Cross reference | Weighted score | Related literatures |
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Gene | Cross reference | Weighted score | Related literatures |
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There are no associated biomedical information in the current reference collection.
Authors | Title | Published | Journal | PubMed Link |
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Griffiths WJ et al. | Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients. | 2017 | J. Steroid Biochem. Mol. Biol. | pmid:26976653 |
Becker S et al. | LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism. | 2015 | Anal Bioanal Chem | pmid:25963649 |
Cañueto J et al. | The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome. | 2014 | Biochim. Biophys. Acta | pmid:24036494 |
Cañueto J et al. | Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. | 2012 | Br. J. Dermatol. | pmid:22121851 |
Svoboda MD et al. | Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. | 2012 | Am J Med Genet C Semin Med Genet | pmid:23042642 |
Quélin C et al. | Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. | 2012 | Eur J Med Genet | pmid:22226660 |
Stottmann RW et al. | Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo. | 2011 | PLoS Genet. | pmid:21912524 |
Sauer SW et al. | Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b(-/-) mice as a model for Wilson disease. | 2011 | Biochim. Biophys. Acta | pmid:21920437 |
Elias PM et al. | Pathogenesis of the cutaneous phenotype in inherited disorders of cholesterol metabolism: Therapeutic implications for topical treatment of these disorders. | 2011 | Dermatoendocrinol | pmid:21695019 |
Lin DS et al. | The effects of sterol structure upon sterol esterification. | 2010 | Atherosclerosis | pmid:19679306 |