 Smith-Lemli-Opitz Syndrome
"Smith-Lemli-Opitz Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.
| Descriptor ID |
D019082
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| MeSH Number(s) |
C16.131.077.860 C16.320.565.398.850 C16.320.565.925.875 C18.452.584.500.937 C18.452.648.398.850 C18.452.648.925.875
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| Concept/Terms |
Smith-Lemli-Opitz Syndrome- Smith-Lemli-Opitz Syndrome
- Smith Lemli Opitz Syndrome
- RSH-SLO Syndrome
- RSH SLO Syndrome
- RSH-SLO Syndromes
- Hyperotosis Corticalis Generalisata Familiaris
- SLO Syndrome
- SLO Syndromes
- Syndrome, SLO
- Syndromes, SLO
- Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung
- RSH Syndrome
- RSH Syndromes
- Syndrome, RSH
- Syndromes, RSH
Smith-Lemli-Opitz Syndrome, Type II- Smith-Lemli-Opitz Syndrome, Type II
- Smith Lemli Opitz Syndrome, Type II
- Smith-Lemli-Opitz Syndrome, Type 2
- Smith Lemli Opitz Syndrome, Type 2
- Rutledge Lethal Multiple Congenital Anomaly Syndrome
- Lethal Acrodysgenital Syndrome
- Acrodysgenital Syndrome, Lethal
- Acrodysgenital Syndromes, Lethal
- Lethal Acrodysgenital Syndromes
- Syndrome, Lethal Acrodysgenital
- Rutledge Friedman Harrod Syndrome
7-Dehydrocholesterol Reductase Deficiency- 7-Dehydrocholesterol Reductase Deficiency
- 7-Dehydrocholesterol Reductase Deficiencies
- Deficiencies, 7-Dehydrocholesterol Reductase
- Deficiency, 7-Dehydrocholesterol Reductase
- Reductase Deficiencies, 7-Dehydrocholesterol
- Reductase Deficiency, 7-Dehydrocholesterol
Smith-Lemli-Opitz Syndrome, Type I- Smith-Lemli-Opitz Syndrome, Type I
- Smith Lemli Opitz Syndrome, Type I
- Smith-Lemli-Opitz Syndrome, Type 1
- Smith Lemli Opitz syndrome, type 1
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Below are MeSH descriptors whose meaning is more general than "Smith-Lemli-Opitz Syndrome".
- Diseases [C]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
- Abnormalities, Multiple [C16.131.077]
- Smith-Lemli-Opitz Syndrome [C16.131.077.860]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Lipid Metabolism, Inborn Errors [C16.320.565.398]
- Smith-Lemli-Opitz Syndrome [C16.320.565.398.850]
- Steroid Metabolism, Inborn Errors [C16.320.565.925]
- Smith-Lemli-Opitz Syndrome [C16.320.565.925.875]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Lipid Metabolism Disorders [C18.452.584]
- Dyslipidemias [C18.452.584.500]
- Smith-Lemli-Opitz Syndrome [C18.452.584.500.937]
- Metabolism, Inborn Errors [C18.452.648]
- Lipid Metabolism, Inborn Errors [C18.452.648.398]
- Smith-Lemli-Opitz Syndrome [C18.452.648.398.850]
- Steroid Metabolism, Inborn Errors [C18.452.648.925]
- Smith-Lemli-Opitz Syndrome [C18.452.648.925.875]
Below are MeSH descriptors whose meaning is more specific than "Smith-Lemli-Opitz Syndrome".
This graph shows the total number of publications written about "Smith-Lemli-Opitz Syndrome" by people in this website by year, and whether "Smith-Lemli-Opitz Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 3 | 0 | 3 | | 1996 | 1 | 0 | 1 | | 1997 | 3 | 0 | 3 | | 1998 | 1 | 0 | 1 | | 2000 | 1 | 0 | 1 | | 2003 | 2 | 0 | 2 | | 2007 | 1 | 0 | 1 | | 2009 | 0 | 1 | 1 | | 2010 | 1 | 0 | 1 | | 2012 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Smith-Lemli-Opitz Syndrome" by people in Profiles.
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Gibbins KJ, Reddy UM, Saade GR, Goldenberg RL, Dudley DJ, Parker CB, Thorsten V, Pinar H, Bukowski R, Hogue CJ, Silver RM. Smith-Lemli-Opitz Mutations in Unexplained Stillbirths. Am J Perinatol. 2018 08; 35(10):936-939.
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Eroglu Y, Nguyen-Driver M, Steiner RD, Merkens L, Merkens M, Roullet JB, Elias E, Sarphare G, Porter FD, Li C, Tierney E, Nowaczyk MJ, Freeman KA. Normal IQ is possible in Smith-Lemli-Opitz syndrome. Am J Med Genet A. 2017 Aug; 173(8):2097-2100.
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Liu W, Xu L, Lamberson CR, Merkens LS, Steiner RD, Elias ER, Haas D, Porter NA. Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. J Lipid Res. 2013 Jan; 54(1):244-53.
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Garry D, Hansen RM, Moskowitz A, Elias ER, Irons M, Fulton AB. Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS). Doc Ophthalmol. 2010 Oct; 121(2):85-91.
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Pickler L, Elias E. Genetic evaluation of the child with an autism spectrum disorder. Pediatr Ann. 2009 Jan; 38(1):26-9.
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Haas D, Garbade SF, Vohwinkel C, Muschol N, Trefz FK, Penzien JM, Zschocke J, Hoffmann GF, Burgard P. Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). J Inherit Metab Dis. 2007 Jun; 30(3):375-87.
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Elias ER, Hansen RM, Irons M, Quinn NB, Fulton AB. Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome. Arch Ophthalmol. 2003 Dec; 121(12):1738-43.
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Caruso PA, Poussaint TY, Tzika AA, Zurakowski D, Astrakas LG, Elias ER, Bay C, Irons MB. MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. Neuroradiology. 2004 Jan; 46(1):3-14.
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Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS. Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. Hum Mol Genet. 2000 May 22; 9(9):1385-91.
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Tint GS, Abuelo D, Till M, Cordier MP, Batta AK, Shefer S, Honda A, Honda M, Xu G, Irons M, Elias ER, Salen G. Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols. Prenat Diagn. 1998 Jul; 18(7):651-8.
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