Biomaterial Database

Plasma measurement of 7-dehydrocholesterol to detect carriers of Smith-Lemli-Opitz syndrome. 2000

M J Nowaczyk

UI	MeSH Term	Description	Entries
D003684	Dehydrocholesterols	Cholesterol derivatives having an additional double bond in any position. The prevalent isomer 7-dehydrocholesterol is a precursor of cholesterol and of vitamin D3.	(Z)-3 beta-Hydroxycholesta-5,27(20)-diene
D006580	Genetic Carrier Screening	Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE.	Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D019082	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.	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