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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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 |
Sikora DM et al. | The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. | 2006 | Am. J. Med. Genet. A | pmid:16761297 |
Haas D et al. | Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations. | 2005 | J. Inherit. Metab. Dis. | pmid:16435228 |
Chevy F et al. | Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit. | 2005 | Prenat. Diagn. | pmid:16231320 |
Ginat S et al. | Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. | 2004 Sep-Oct | Mol. Genet. Metab. | pmid:15464432 |
Lindenthal B et al. | Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hünermann-Happle syndrome. | 2004 Mar-Apr | Klin Padiatr | pmid:15106076 |
Marcos J et al. | The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production. | 2004 | Steroids | pmid:14715377 |
Merkens LS et al. | Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. | 2004 | Pediatr. Res. | pmid:15319461 |
Caruso PA et al. | MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. | 2004 | Neuroradiology | pmid:14605787 |
Langius FA et al. | Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. | 2003 | Am. J. Med. Genet. A | pmid:12949967 |