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Smith-Lemli-Opitz Syndrome

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.
Also Known As:
7-Dehydrocholesterol Reductase Deficiency; Hyperotosis Corticalis Generalisata Familiaris; Lethal Acrodysgenital Syndrome; Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung; RSH Syndrome; RSH-SLO Syndrome; Rutledge Friedman Harrod Syndrome; Rutledge Lethal Multiple Congenital Anomaly Syndrome; SLO Syndrome; Smith Lemli Opitz syndrome, type 1; Smith-Lemli-Opitz Syndrome, Type 1; Smith-Lemli-Opitz Syndrome, Type 2; Smith-Lemli-Opitz Syndrome, Type I; Smith-Lemli-Opitz Syndrome, Type II; 7-Dehydrocholesterol Reductase Deficiencies; Acrodysgenital Syndrome, Lethal; Acrodysgenital Syndromes, Lethal; Deficiencies, 7-Dehydrocholesterol Reductase; Deficiency, 7-Dehydrocholesterol Reductase; Lethal Acrodysgenital Syndromes; RSH SLO Syndrome; RSH Syndromes; RSH-SLO Syndromes; Reductase Deficiencies, 7-Dehydrocholesterol; Reductase Deficiency, 7-Dehydrocholesterol; SLO Syndromes; Smith Lemli Opitz Syndrome; Smith Lemli Opitz Syndrome, Type 2; Smith Lemli Opitz Syndrome, Type I; Smith Lemli Opitz Syndrome, Type II; Syndrome, Lethal Acrodysgenital; Syndrome, RSH; Syndrome, SLO; Syndromes, RSH; Syndromes, SLO
Networked: 482 relevant articles (7 outcomes, 22 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Retinal Degeneration
2. Sitosterolemia
3. Hyperlipoproteinemia Type II (Familial Hypercholesterolemia)
4. Wolman Disease (Wolman's Disease)
5. Chondrodysplasia Punctata (Stippled Epiphyses)

Experts

1. Porter, Forbes D: 36 articles (01/2020 - 04/2002)
2. Porter, Ned A: 28 articles (01/2021 - 02/2010)
3. Steiner, Robert D: 25 articles (07/2021 - 04/2002)
4. Xu, Libin: 23 articles (04/2022 - 02/2010)
5. Korade, Zeljka: 22 articles (01/2021 - 12/2008)
6. Fliesler, Steven J: 21 articles (02/2021 - 02/2004)
7. Wassif, Christopher A: 20 articles (10/2017 - 04/2002)
8. Merkens, Louise S: 13 articles (10/2014 - 06/2004)
9. Tallman, Keri A: 11 articles (01/2021 - 09/2011)
10. Connor, William E: 11 articles (09/2012 - 04/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Smith-Lemli-Opitz Syndrome:
1. CholesterolIBA
2. OxysterolsIBA
3. AntioxidantsIBA
4. Simvastatin (Zocor)FDA LinkGeneric
5. Dietary CholesterolIBA
6. Sterol Esterase (Hormone-Sensitive Lipase)IBA
7. SterolsIBA
8. 7-dehydrocholesterolIBA
9. SteroidsIBA
10. Oxidoreductases (Dehydrogenase)IBA

Therapies and Procedures

1. Therapeutics
2. Airway Management
3. Gastrostomy
4. Anesthesia
5. Laryngoscopes