Mevalonate Kinase Deficiency

About the Disease
Mevalonic Aciduria, also known as mevalonate kinase deficiency, is related to hyper-igd syndrome and smallpox, and has symptoms including abdominal pain, arthralgia and diarrhea. An important gene associated with Mevalonic Aciduria is MVK (Mevalonate Kinase), and among its related pathways/superpathways are Innate Immune System and Disease. The drugs Colchicine and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and spleen, and related phenotypes are intellectual disability and global developmental delay

Common Targets
MVK | IL1B

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