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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Stolzenberg-Solomon RZ et al. | Circulating 25-hydroxyvitamin D and risk of pancreatic cancer: Cohort Consortium Vitamin D Pooling Project of Rarer Cancers. | 2010 | Am. J. Epidemiol. | pmid:20562185 |
Wassif CA et al. | Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. | 1998 | Am. J. Hum. Genet. | pmid:9634533 |
Brunetti-Pierri N et al. | Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. | 2002 | Am. J. Hum. Genet. | pmid:12189593 |
Alley TL et al. | Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient. | 1995 | Am. J. Hum. Genet. | pmid:7762564 |
Irons M et al. | Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. | 1994 | Am. J. Med. Genet. | pmid:8209913 |
Natowicz MR and Evans JE | Abnormal bile acids in the Smith-Lemli-Opitz syndrome. | 1994 | Am. J. Med. Genet. | pmid:8209917 |
Opitz JM and de la Cruz F | Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference. | 1994 | Am. J. Med. Genet. | pmid:7632194 |
Linck LM et al. | Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. | 2000 | Am. J. Med. Genet. | pmid:10951458 |
Neklason DW et al. | Biochemical variants of Smith-Lemli-Opitz syndrome. | 1999 | Am. J. Med. Genet. | pmid:10405455 |
Tint GS | Cholesterol defect in Smith-Lemli-Opitz syndrome. | 1993 | Am. J. Med. Genet. | pmid:8256825 |