| H00161 | |
| H number | H00161 |
| Name | Smith-Lemli-Opitz syndrome |
| Description | Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by deficiency of 7-dehydrocholesterol reductase in cholesterol biosynthesis. |
| Category | Inherited metabolic disorder |
| Network | nt06034(H00161) Cholesterol biosynthesis |
| Gene | (SLOS) DHCR7 [HSA:1717] [KO:K00213] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C52.10 ICD-10: Q87.1 MeSH: D019082 OMIM: 270400 |
| Reference | PMID:18285838 AUTHORS Porter FD TITLE Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. JOURNAL Eur J Hum Genet 16:535-41 (2008) DOI:10.1038/ejhg.2008.10 PMID:16207203 AUTHORS Yu H, Patel SB TITLE Recent insights into the Smith-Lemli-Opitz syndrome. JOURNAL Clin Genet 68:383-91 (2005) DOI:10.1111/j.1399-0004.2005.00515.x PMID:15670717 AUTHORS Correa-Cerro LS, Porter FD TITLE 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. JOURNAL Mol Genet Metab 84:112-26 (2005) DOI:10.1016/j.ymgme.2004.09.017 PMID:9634533 (SLOS) AUTHORS Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD TITLE Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. JOURNAL Am J Hum Genet 63:55-62 (1998) DOI:10.1086/301936 |