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
|
| 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
|
| 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
|
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 |
|---|
| 1999 | 3 | 0 | 3 |
| 2005 | 1 | 0 | 1 |
| 2007 | 1 | 0 | 1 |
| 2019 | 0 | 1 | 1 |
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click here.
Below are the most recent publications written about "Smith-Lemli-Opitz Syndrome" by people in Profiles.
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Polydactyly. Am J Obstet Gynecol. 2019 12; 221(6):B13-B15.
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Case report of unilateral clefting: is sonic hedgehog to blame? Pediatr Dev Pathol. 2007 Mar-Apr; 10(2):117-20.
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Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol. Am J Med Genet A. 2005 Sep 15; 138(1):56-60.
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Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle. Hum Mol Genet. 1999 Aug; 8(8):1387-96.
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MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development. Hum Mol Genet. 1999 Aug; 8(8):1397-407.
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Importance of measuring plasma cholesterol precursors. Am J Med Genet. 1999 Jan 15; 82(2):199.