RSH (so-called Smith-Lemli-Opitz) syndrome.
Now known as a Garrodian inborn error caused by the homozygous state of many different autosomal recessive mutations of the 7-dehydrocholesterol reductase gene leading to deficient conversion of 7-dehydrocholesterol to cholesterol, the RSH (so-called Smith-Lemli-Opitz) syndrome has become a paradigmatic metabolic malformation syndrome in a pathway that also involves cause and pathogenesis of desmosterolosis, two forms of the Conradi-Hünermann-Happle type chondodysplasia punctata and its mouse homologs, and the Greenberg "moth-eaten" skeletal dysplasia and the CHILD syndrome. Many other defects in this pathway remain to be discovered.
Opitz
J M
JM
2100 Primary Children's Medical Center, University of Utah, Salt Lake City 84112-1100, USA. ajmg@hsc.utah.edu
D000818:Animals; D005808:Genes, Recessive / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D051379:Mice; D009154:Mutation / Q000235:genetics*; D010088:Oxidoreductases / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D011296:Prenatal Diagnosis; D019082:Smith-Lemli-Opitz Syndrome / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism
D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase