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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Aughton DJ et al. | X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male. | 2003 | Am. J. Med. Genet. A | pmid:12503102 |
Milunsky JM et al. | Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. | 2003 | Am. J. Med. Genet. A | pmid:12503101 |
Wassif CA et al. | 27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway. | 2003 | Steroids | pmid:12906934 |
Lindenthal B et al. | Influence of simvastatin, pravastatin, and BM 15.766 on neutral sterols in liver and testis of guinea pigs. | 2002 | Metab. Clin. Exp. | pmid:11912560 |
Corso G et al. | Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography-mass spectrometry-selected ion monitoring. | 2002 | J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. | pmid:11824824 |
Starck L et al. | Simvastatin treatment in the SLO syndrome: a safe approach? | 2002 | Am. J. Med. Genet. | pmid:12407710 |
Has C et al. | Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome. | 2002 | J. Invest. Dermatol. | pmid:11982764 |
Björkhem I et al. | Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol. | 2001 | J. Lipid Res. | pmid:11254748 |
Ruan B et al. | Sterols in blood of normal and Smith-Lemli-Opitz subjects. | 2001 | J. Lipid Res. | pmid:11352988 |
Lindenthal B et al. | Neutral sterols of rat epididymis. High concentrations of dehydrocholesterols in rat caput epididymidis. | 2001 | J. Lipid Res. | pmid:11441136 |