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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Matabosch X et al. | Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome. | 2009 | J. Steroid Biochem. Mol. Biol. | pmid:19406241 |
Rakheja D and Boriack RL | Precholesterol sterols accumulate in lipid rafts of patients with Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata. | 2008 Mar-Apr | Pediatr. Dev. Pathol. | pmid:17378665 |
Jezela-Stanek A et al. | Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature. | 2008 Mar-Apr | Eur J Med Genet | pmid:18249054 |
Umekoji A et al. | High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation. | 2008 | J. Dermatol. Sci. | pmid:18387283 |
Kolb-Mäurer A et al. | Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis. | 2008 | Acta Derm. Venereol. | pmid:18176751 |
de Sain-van der Velden MG et al. | Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX. | 2008 | J. Inherit. Metab. Dis. | pmid:18949577 |
Griffiths WJ et al. | Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome. | 2008 | Clin. Chem. | pmid:18556335 |
Paila YD et al. | Signaling by the human serotonin(1A) receptor is impaired in cellular model of Smith-Lemli-Opitz Syndrome. | 2008 | Biochim. Biophys. Acta | pmid:18381059 |
Haas D et al. | Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). | 2007 | J. Inherit. Metab. Dis. | pmid:17497248 |
Yu H et al. | Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice. | 2007 | BMC Dev. Biol. | pmid:17408495 |