Lathosterolosis

About the Disease
Lathosterolosis, also known as sterol c5-desaturase deficiency, is related to smith-lemli-opitz syndrome and greenberg dysplasia. An important gene associated with Lathosterolosis is SC5D (Sterol-C5-Desaturase). The drugs 7-dehydrocholesterol and Dehydrocholesterols have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and eye, and related phenotypes are cataract and global developmental delay

Common Targets
SC5D

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