8-DHC (BioDeep_00000636755)

Main id: BioDeep_00000027743

 

PANOMIX_OTCML-2023


代谢物信息卡片


cholesta-5,8-dien-3beta-ol

化学式: C27H44O (384.3391974)
中文名称:
谱图信息: 最多检出来源 () 0%

分子结构信息

SMILES: C12CC=C3C[C@@H](O)CC[C@]3(C)C=1CC[C@]1(C)[C@@]([H])([C@]([H])(C)CCCC(C)C)CC[C@@]21[H]
InChI: InChI=1S/C27H44O/c1-18(2)7-6-8-19(3)23-11-12-24-22-10-9-20-17-21(28)13-15-26(20,4)25(22)14-16-27(23,24)5/h9,18-19,21,23-24,28H,6-8,10-17H2,1-5H3/t19-,21+,23-,24+,26+,27-/m1/s1

描述信息

8-Dehydrocholesterol elevated concentration is one of the diagnostic biochemical hallmarks of classical Smith-Lemli-Opitz syndrome (SLOS).

同义名列表

4 个代谢物同义名

cholesta-5,8-dien-3beta-ol; 8-Dehydrocholesterol; ST 27:2;O; 8-DHC



数据库引用编号

5 个数据库交叉引用编号

分类词条

相关代谢途径

Reactome(0)

BioCyc(0)

PlantCyc(0)

代谢反应

0 个相关的代谢反应过程信息。

Reactome(0)

BioCyc(0)

WikiPathways(0)

Plant Reactome(0)

INOH(0)

PlantCyc(0)

COVID-19 Disease Map(0)

PathBank(0)

PharmGKB(0)

0 个相关的物种来源信息

在这里通过桑基图来展示出与当前的这个代谢物在我们的BioDeep知识库中具有相关联信息的其他代谢物。在这里进行关联的信息来源主要有：

  • PubMed: 来源于PubMed文献库中的文献信息，我们通过自然语言数据挖掘得到的在同一篇文献中被同时提及的相关代谢物列表，这个列表按照代谢物同时出现的文献数量降序排序，取前10个代谢物作为相关研究中关联性很高的代谢物集合展示在桑基图中。
  • NCBI Taxonomy: 通过文献数据挖掘，得到的代谢物物种来源信息关联。这个关联信息同样按照出现的次数降序排序，取前10个代谢物作为高关联度的代谢物集合展示在桑吉图上。
  • Chemical Taxonomy: 在物质分类上处于同一个分类集合中的其他代谢物
  • Chemical Reaction: 在化学反应过程中，存在为当前代谢物相关联的生化反应过程中的反应底物或者反应产物的关联代谢物信息。

点击图上的相关代谢物的名称，可以跳转到相关代谢物的信息页面。



文献列表

  • Željka Korade, Wei Liu, Emily B Warren, Kristan Armstrong, Ned A Porter, Christine Konradi. Effect of psychotropic drug treatment on sterol metabolism. Schizophrenia research. 2017 09; 187(?):74-81. doi: 10.1016/j.schres.2017.02.001. [PMID: 28202290]
  • William J Griffiths, Jonas Abdel-Khalik, Peter J Crick, Michael Ogundare, Cedric H Shackleton, Karin Tuschl, Mei Kwun Kwok, Brian W Bigger, Andrew A Morris, Akira Honda, Libin Xu, Ned A Porter, Ingemar Björkhem, Peter T Clayton, Yuqin Wang. Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients. The Journal of steroid biochemistry and molecular biology. 2017 05; 169(?):77-87. doi: 10.1016/j.jsbmb.2016.03.018. [PMID: 26976653]
  • Aleksandra Jezela-Stanek, Ewa Małunowicz, Siejka Anna, Marzena Kucharczyk, Bozenna Goryluk-Kozakiewicz, Henryka Sodowska, Małgorzata Krajewska-Walasek. Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome. Ginekologia polska. 2015 Aug; 86(8):598-602. doi: 10.17772/gp/57851. [PMID: 26492708]
  • S Becker, S Röhnike, S Empting, D Haas, K Mohnike, S Beblo, U Mütze, R A Husain, J Thiery, U Ceglarek. LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism. Analytical and bioanalytical chemistry. 2015 Jul; 407(17):5227-33. doi: 10.1007/s00216-015-8731-1. [PMID: 25963649]
  • Verity L Hartill, Carolyn Tysoe, Nigel Manning, Angus Dobbie, Saikat Santra, John Walter, Richard Caswell, Janet Koster, Hans Waterham, Emma Hobson. An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene. American journal of medical genetics. Part A. 2014 Apr; 164A(4):907-14. doi: 10.1002/ajmg.a.36368. [PMID: 24459067]
  • Melissa D Svoboda, Jill M Christie, Yasemen Eroglu, Kurt A Freeman, Robert D Steiner. Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. American journal of medical genetics. Part C, Seminars in medical genetics. 2012 Nov; 160C(4):285-94. doi: 10.1002/ajmg.c.31347. [PMID: 23042642]
  • Chloé Quélin, Philippe Loget, Alain Verloes, Anne Bazin, Bettina Bessières, Annie Laquerrière, Sophie Patrier, Romulus Grigorescu, Ferechté Encha-Razavi, Sophie Delahaye, Jean-Marie Jouannic, Bruno Carbonne, Dominique D'Hervé, Marie-Cécile Aubry, Guillaume Macé, Thierry Harvey, Yves Ville, Geraldine Viot, Nicole Joyé, Sylvie Odent, Tania Attié-Bitach, Claude Wolf, Françoise Chevy, Pascale Benlian, Marie Gonzales. Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. European journal of medical genetics. 2012 Feb; 55(2):81-90. doi: 10.1016/j.ejmg.2011.12.002. [PMID: 22226660]
  • Peter M Elias, Debra Crumrine, Amy Paller, Marina Rodriguez-Martin, Mary L Williams. Pathogenesis of the cutaneous phenotype in inherited disorders of cholesterol metabolism: Therapeutic implications for topical treatment of these disorders. Dermato-endocrinology. 2011 Apr; 3(2):100-6. doi: 10.4161/derm.3.2.14831. [PMID: 21695019]
  • Giuseppe Paglia, Oceania D'Apolito, Monica Gelzo, Antonio Dello Russo, Gaetano Corso. Direct analysis of sterols from dried plasma/blood spots by an atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) method for a rapid screening of Smith-Lemli-Opitz syndrome. The Analyst. 2010 Apr; 135(4):789-96. doi: 10.1039/b919622f. [PMID: 20349543]
  • Don S Lin, Robert D Steiner, Louise S Merkens, Anuradha S Pappu, William E Connor. The effects of sterol structure upon sterol esterification. Atherosclerosis. 2010 Jan; 208(1):155-60. doi: 10.1016/j.atherosclerosis.2009.07.031. [PMID: 19679306]
  • Xavier Matabosch, Mahbuba Rahman, Beverly Hughes, Shailendra B Patel, Gordon Watson, Cedric Shackleton. 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. The Journal of steroid biochemistry and molecular biology. 2009 Aug; 116(1-2):61-70. doi: 10.1016/j.jsbmb.2009.04.011. [PMID: 19406241]
  • M G M de Sain-van der Velden, A Verrips, B H C M T Prinsen, M de Barse, R Berger, G Visser. Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX. Journal of inherited metabolic disease. 2008 Dec; 31 Suppl 2(?):S387-93. doi: 10.1007/s10545-008-0963-1. [PMID: 18949577]
  • Yamuna Devi Paila, Mamidanna R V S Murty, Mariappanadar Vairamani, Amitabha Chattopadhyay. Signaling by the human serotonin(1A) receptor is impaired in cellular model of Smith-Lemli-Opitz Syndrome. Biochimica et biophysica acta. 2008 Jun; 1778(6):1508-16. doi: 10.1016/j.bbamem.2008.03.002. [PMID: 18381059]
  • Dinesh Rakheja, Richard L Boriack. Precholesterol sterols accumulate in lipid rafts of patients with Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 2008 Mar; 11(2):128-32. doi: 10.2350/06-10-0179.1. [PMID: 17378665]
  • Annette Kolb-Mäurer, Karl-Heinz Grzeschik, Dorothea Haas, Eva-Bettina Bröcker, Henning Hamm. Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis. Acta dermato-venereologica. 2008; 88(1):47-51. doi: 10.2340/00015555-0337. [PMID: 18176751]
  • D Haas, S F Garbade, C Vohwinkel, N Muschol, F K Trefz, J M Penzien, J Zschocke, G F Hoffmann, P Burgard. Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). Journal of inherited metabolic disease. 2007 Jun; 30(3):375-87. doi: 10.1007/s10545-007-0537-7. [PMID: 17497248]
  • D Haas, S Armbrust, J-P Haas, J Zschocke, K Mühlmann, C Fusch, L M Neumann. Smith-Lemli-Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations. Journal of inherited metabolic disease. 2005; 28(6):1191-6. doi: 10.1007/s10545-005-0168-9. [PMID: 16435228]
  • Louise S Merkens, William E Connor, Leesa M Linck, Don S Lin, Donna P Flavell, Robert D Steiner. Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. Pediatric research. 2004 Nov; 56(5):726-32. doi: 10.1203/01.pdr.0000141522.14177.4f. [PMID: 15319461]
  • Sharon Ginat, Kevin P Battaile, Brian C Battaile, Cheryl Maslen, K Michael Gibson, Robert D Steiner. Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. Molecular genetics and metabolism. 2004 Sep; 83(1-2):175-83. doi: 10.1016/j.ymgme.2004.07.002. [PMID: 15464432]
  • B Lindenthal, R Repgen, D Emons, M J Lentze, K von Bergmann, D Lütjohann. Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hünermann-Happle syndrome. Klinische Padiatrie. 2004 Mar; 216(2):67-9. doi: 10.1055/s-2004-44894. [PMID: 15106076]
  • P A Caruso, T Y Poussaint, A A Tzika, D Zurakowski, L G Astrakas, E R Elias, C Bay, M B Irons. MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. Neuroradiology. 2004 Jan; 46(1):3-14. doi: 10.1007/s00234-003-1110-1. [PMID: 14605787]
  • Josep Marcos, Li-Wei Guo, William K Wilson, Forbes D Porter, Cedric Shackleton. The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production. Steroids. 2004 Jan; 69(1):51-60. doi: 10.1016/j.steroids.2003.09.013. [PMID: 14715377]
  • Fernanda A A Langius, Hans R Waterham, Gerrit Jan Romeijn, Wendy Oostheim, Martina M J de Barse, Lambertus Dorland, Marinus Duran, Frits A Beemer, Ronald J A Wanders, Bwee Tien Poll-The. Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. American journal of medical genetics. Part A. 2003 Sep; 122A(1):24-9. doi: 10.1002/ajmg.a.20207. [PMID: 12949967]
  • Christopher A Wassif, Jinghua Yu, Jisong Cui, Forbes D Porter, Norman B Javitt. 27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway. Steroids. 2003 Aug; 68(6):497-502. doi: 10.1016/s0039-128x(03)00090-4. [PMID: 12906934]
  • Jeff M Milunsky, Thomas A Maher, Aida B Metzenberg. 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. American journal of medical genetics. Part A. 2003 Jan; 116A(3):249-54. doi: 10.1002/ajmg.a.10849. [PMID: 12503101]
  • Cedric Shackleton, Esther Roitman, Li Wei Guo, William K Wilson, Forbes D Porter. Identification of 7(8) and 8(9) unsaturated adrenal steroid metabolites produced by patients with 7-dehydrosterol-delta7-reductase deficiency (Smith-Lemli-Opitz syndrome). The Journal of steroid biochemistry and molecular biology. 2002 Oct; 82(2-3):225-32. doi: 10.1016/s0960-0760(02)00155-3. [PMID: 12477489]
  • Cristina Has, Udo Seedorf, Frank Kannenberg, Leena Bruckner-Tuderman, Elzo Folkers, Regina Fölster-Holst, Ivo Baric, Heiko Traupe. Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome. The Journal of investigative dermatology. 2002 May; 118(5):851-8. doi: 10.1046/j.1523-1747.2002.01761.x. [PMID: 11982764]
  • B Lindenthal, T A Aldaghlas, J K Kelleher, S M Henkel, R Tolba, G Haidl, K von Bergmann. Neutral sterols of rat epididymis. High concentrations of dehydrocholesterols in rat caput epididymidis. Journal of lipid research. 2001 Jul; 42(7):1089-95. doi: 10.1016/s0022-2275(20)31598-4. [PMID: 11441136]
  • B Ruan, W K Wilson, J Pang, N Gerst, F D Pinkerton, J Tsai, R I Kelley, F G Whitby, D M Milewicz, J Garbern, G J Schroepfer. Sterols in blood of normal and Smith-Lemli-Opitz subjects. Journal of lipid research. 2001 May; 42(5):799-812. doi: 10.1016/s0022-2275(20)31643-6. [PMID: 11352988]
  • I Björkhem, L Starck, U Andersson, D Lütjohann, S von Bahr, I Pikuleva, A Babiker, U Diczfalusy. Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol. Journal of lipid research. 2001 Mar; 42(3):366-71. doi: . [PMID: 11254748]
  • P E Jira, R A Wevers, J de Jong, E Rubio-Gozalbo, F S Janssen-Zijlstra, A F van Heyst, R C Sengers, J A Smeitink. Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome. Journal of lipid research. 2000 Aug; 41(8):1339-46. doi: 10.1016/s0022-2275(20)33442-8. [PMID: 10946022]
  • L Starck, A Lövgren. Diagnosis of Smith-Lemli-Opitz syndrome from stored filter paper blood specimens. Archives of disease in childhood. 2000 Jun; 82(6):490-2. doi: 10.1136/adc.82.6.490. [PMID: 10833186]
  • A Honda, G Salen, S Shefer, A K Batta, M Honda, G Xu, G S Tint, Y Matsuzaki, J Shoda, N Tanaka. Bile acid synthesis in the Smith-Lemli-Opitz syndrome: effects of dehydrocholesterols on cholesterol 7alpha-hydroxylase and 27-hydroxylase activities in rat liver. Journal of lipid research. 1999 Aug; 40(8):1520-8. doi: . [PMID: 10428990]
  • G S Tint, D Abuelo, M Till, M P Cordier, A K Batta, S Shefer, A Honda, M Honda, G Xu, M Irons, E R Elias, G Salen. Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols. Prenatal diagnosis. 1998 Jul; 18(7):651-8. doi: NULL. [PMID: 9706645]
  • A van Rooij, A A Nijenhuis, F A Wijburg, R B Schutgens. Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome. Journal of inherited metabolic disease. 1997 Aug; 20(4):578-80. doi: 10.1023/a:1005355026186. [PMID: 9266395]
  • P E Jira, J G de Jong, F S Janssen-Zijlstra, U Wendel, R A Wevers. Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome. Clinical chemistry. 1997 Jan; 43(1):129-33. doi: . [PMID: 8990234]
  • C Wolf, F Chevy, J Pham, M Kolf-Clauw, D Citadelle, N Mulliez, C Roux. Changes in serum sterols of rats treated with 7-dehydrocholesterol-delta 7-reductase inhibitors: comparison to levels in humans with Smith-Lemli-Opitz syndrome. Journal of lipid research. 1996 Jun; 37(6):1325-33. doi: NULL. [PMID: 8808767]
  • A K Batta, G Salen, G S Tint, S Shefer. Identification of 19-nor-5,7,9(10)-cholestatrien-3 beta-ol in patients with Smith-Lemli-Opitz syndrome. Journal of lipid research. 1995 Nov; 36(11):2413-8. doi: NULL. [PMID: 8656079]