MeSH term | MeSH ID | Detail |
---|---|---|
Hemolysis | D006461 | 131 associated lipids |
Abnormalities, Multiple | D000015 | 13 associated lipids |
Intellectual Disability | D008607 | 13 associated lipids |
Smith-Lemli-Opitz Syndrome | D019082 | 7 associated lipids |
7-Dehydrocholesterol is a lipid of Sterol Lipids (ST) class. 7-dehydrocholesterol is associated with abnormalities such as Dehydration, Exanthema, RETINITIS PIGMENTOSA 49, Congenital Abnormality and Failure to Thrive. The involved functions are known as 5-(carboxyamino)imidazole ribonucleotide mutase activity, Mutation, Lysis, Anabolism and Biosynthetic Pathways. 7-dehydrocholesterol often locates in Plasma membrane, Body tissue, Tissue membrane, Membrane and outer membrane. The associated genes with 7-Dehydrocholesterol are mutant gene, THEMIS gene, IGKV1D-37 gene, LGALS4 gene and Orthologous Gene. The related lipids are Membrane Lipids, Steroids, Sterols, campesterol and 7-dehydrocholesterol. The related experimental models are Mouse Model, Knock-out and Rodent Model.
To understand associated biological information of 7-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.
7-Dehydrocholesterol is suspected in Dehydration, Congenital Abnormality, Exanthema, Vitamin D Deficiency, Retinal Degeneration, Hereditary Diseases 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 7-Dehydrocholesterol
MeSH term | MeSH ID | Detail |
---|---|---|
Hemolysis | D006461 | 131 associated lipids |
Abnormalities, Multiple | D000015 | 13 associated lipids |
Intellectual Disability | D008607 | 13 associated lipids |
Smith-Lemli-Opitz Syndrome | D019082 | 7 associated lipids |
Lipid pathways are not clear in current pathway databases. We organized associated pathways with 7-Dehydrocholesterol through full-text articles, including metabolic pathways or pathways of biological mechanisms.
Pathway name | Related literatures |
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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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Mouse Model are used in the study 'An oxysterol biomarker for 7-dehydrocholesterol oxidation in cell/mouse models for Smith-Lemli-Opitz syndrome.' (Xu L et al., 2011) and Mouse Model are used in the study 'Metabolism of oxysterols derived from nonenzymatic oxidation of 7-dehydrocholesterol in cells.' (Xu L et al., 2013).
Knock-out are used in the study 'Immunoglobulin E receptor signaling and asthma.' (Wu LC, 2011) and Knock-out are used in the study 'Novel activities of CYP11A1 and their potential physiological significance.' (Slominski AT et al., 2015).
Rodent Model are used in the study 'Oxidation of 7-dehydrocholesterol and desmosterol by human cytochrome P450 46A1.' (Goyal S et al., 2014) and Rodent Model are used in the study 'Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome.' (Keller RK et al., 2004).
Model | Cross reference | Weighted score | Related literatures |
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Authors | Title | Published | Journal | PubMed Link |
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Zechi-Ceide RM et al. | Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes. | 2009 | Am. J. Med. Genet. A | pmid:19449411 |
Waye JS et al. | De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome. | 2007 | Am. J. Med. Genet. A | pmid:17595012 |
Nowaczyk MJ et al. | DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients? | 2006 | Am. J. Med. Genet. A | pmid:16906538 |
Scalco FB et al. | DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients. | 2005 | Am. J. Med. Genet. A | pmid:15952211 |
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 |
Bianconi SE et al. | Adrenal function in Smith-Lemli-Opitz syndrome. | 2011 | Am. J. Med. Genet. A | pmid:21990131 |
Mueller C et al. | Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. | 2003 | Am. J. Med. Genet. A | pmid:14556255 |
Nowaczyk MJ et al. | Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. | 2004 | Am. J. Med. Genet. A | pmid:14981719 |
Rossi M et al. | Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review. | 2005 | Am. J. Med. Genet. A | pmid:15580635 |
Lin X et al. | A targeted apoB38.9 mutation in mice is associated with reduced hepatic cholesterol synthesis and enhanced lipid peroxidation. | 2006 | Am. J. Physiol. Gastrointest. Liver Physiol. | pmid:16455790 |