Disease

Smith-Lemli-Opitz Syndrome

About the Disease
Smith-Lemli-Opitz Syndrome, also known as slos, is related to hypercholesterolemia, familial, 1 and hypospadias, and has symptoms including constipation, seizures and vomiting. An important gene associated with Smith-Lemli-Opitz Syndrome is DHCR7 (7-Dehydrocholesterol Reductase), and among its related pathways/superpathways are Metabolism and PPARA activates gene expression. The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include lung, eye and bone, and related phenotypes are intellectual disability and global developmental delay

Common Targets
ABCA1 | APOC3 | DHCR7 | CTRL | NMDA receptor | CETP

疾病靶点研报
Smith-Lemli-Opitz Syndrome

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