| Entry |
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| Name |
Smith-Lemli-Opitz syndrome |
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| Description |
Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by deficiency of 7-dehydrocholesterol reductase in cholesterol biosynthesis.
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| Category |
Inherited metabolic disorder
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| Brite |
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C52 Inborn errors of lipid metabolism
H00161 Smith-Lemli-Opitz syndrome
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06034 Cholesterol biosynthesis
H00161 Smith-Lemli-Opitz syndrome
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| Pathway |
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| Network |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Porter FD |
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| Title |
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. |
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| Journal |
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| Reference |
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| Authors |
Yu H, Patel SB |
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| Title |
Recent insights into the Smith-Lemli-Opitz syndrome. |
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| Journal |
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| Reference |
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| Authors |
Correa-Cerro LS, Porter FD |
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| Title |
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. |
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| Journal |
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| Reference |
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| Authors |
Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD |
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| Title |
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. |
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| Journal |
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| LinkDB |
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