| MeSH term | MeSH ID | Detail |
|---|---|---|
| Chondrodysplasia Punctata | D002806 | 8 associated lipids |
| Smith-Lemli-Opitz Syndrome | D019082 | 7 associated lipids |
Total
2
8-Dehydrocholesterol
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.
Cross Reference
Introduction
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.
What diseases are associated with 8-Dehydrocholesterol?
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.
Related references are mostly published in these journals:
| Disease | Cross reference | Weighted score | Related literature |
|---|
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Possible diseases from mapped MeSH terms on references
We collected disease MeSH terms mapped to the references associated with 8-Dehydrocholesterol
PubChem Associated disorders and diseases
What pathways are associated with 8-Dehydrocholesterol
There are no associated biomedical information in the current reference collection.
PubChem Biomolecular Interactions and Pathways
Link to PubChem Biomolecular Interactions and PathwaysWhat cellular locations are associated with 8-Dehydrocholesterol?
Visualization in cellular structure
Associated locations are in red color. Not associated locations are in black.
Related references are published most in these journals:
| Location | Cross reference | Weighted score | Related literatures |
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What functions are associated with 8-Dehydrocholesterol?
Related references are published most in these journals:
| Function | Cross reference | Weighted score | Related literatures |
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What lipids are associated with 8-Dehydrocholesterol?
Related references are published most in these journals:
| Lipid concept | Cross reference | Weighted score | Related literatures |
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What genes are associated with 8-Dehydrocholesterol?
Related references are published most in these journals:
| Gene | Cross reference | Weighted score | Related literatures |
|---|
What common seen animal models are associated with 8-Dehydrocholesterol?
There are no associated biomedical information in the current reference collection.
NCBI Entrez Crosslinks
All references with 8-Dehydrocholesterol
Download all related citations| Authors | Title | Published | Journal | PubMed Link |
|---|---|---|---|---|
| pmid:12477489 | ||||
| pmid:24459067 | ||||
| pmid: | ||||
| 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 |
| 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 |
| Starck L et al. | Simvastatin treatment in the SLO syndrome: a safe approach? | 2002 | Am. J. Med. Genet. | pmid:12407710 |
| 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 |
| 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 |
| 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 |