MeSH Browser

MeSH Supplementary: Imerslund-Grasbeck syndrome
Unique ID: C538556
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538556
Entry Term(s): Enterocyte cobalamin malabsorption; Enterocyte intrinsic factor receptor, defect of; Megaloblastic Anemia 1
Registry Number: 0
Heading Mapped to: *Anemia, Megaloblastic; *Malabsorption Syndromes; *Proteinuria; *Vitamin B 12 Deficiency
Frequency: 39
Note: An autosomal recessive congenital form of megaloblastic anemia due to vitamin B12 deficiency; proteinuria is also present. The disorder is caused by a defect in the vitamin B12/intrinsic factor receptor (CUBN gene mutation). Mutations in the AMN gene have also been identified. OMIM: 261100
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Imerslund-Grasbeck syndrome MeSH Supplementary Concept Data 2024