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disease > genetic disease > hereditary disease > Imerslund disease
disease > hemopathy > anemia > megaloblastic anemia > Imerslund disease
disease > metabolic disorder > vitamin deficiency > Imerslund disease
disease > nutrition disorder > vitamin deficiency > Imerslund disease

Preferred term

Imerslund disease  

Definition

  • Imerslund–Gräsbeck syndrome, is a rare autosomal recessive, familial form of vitamin B12 deficiency caused by malfunction of the "Cubam" receptor located in the terminal ileum. This receptor is composed of two proteins, amnionless (AMN), and cubilin. A defect in either of these protein components can cause this syndrome. This is a rare disease, with a prevalence about 1 in 200,000, and is usually seen in patients of European ancestry. (Wikipedia)

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URI

http://data.loterre.fr/ark:/67375/VH8-HMBMF79B-M

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