Imerslund-Grasbeck Syndrome

About the Disease
Megaloblastic Anemia, also known as imerslund-grasbeck syndrome, is related to thiamine-responsive megaloblastic anemia syndrome and imerslund-grasbeck syndrome 1, and has symptoms including athetosis and cerebellar ataxia. An important gene associated with Megaloblastic Anemia is CUBN (Cubilin), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. The drugs Mecobalamin and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and neutrophil, and related phenotypes are vitamin b12 deficiency and malabsorption of vitamin b12

Common Targets
CUBN

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