Concept information
Preferred term
Imerslund disease
Definition(s)
- 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)
Broader concept(s)
In other languages
-
French
-
maladie d'Imerslund
URI
http://data.loterre.fr/ark:/67375/VH8-HMBMF79B-M
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