Imerslund-Grasbeck syndrome is an autosomal recessive megaloblastic anemia with proteinuria which is caused by mutations of the enterocyte intrinsic factor receptor which is encoded by genes CUBN and AMN. As the same receptor is used by proximal tubulus cells to retrieve filtered proteins, defects of this receptor not only result in vitamin B12 deficiency but also low molecular weight proteinuria.
Endocytotic disturbances of proximal tubular function | ||||
Donnai-Barrow syndrome | ||||
Imerslund-Grasbeck syndrome | ||||
AMN | ||||
CUBN | ||||
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OMIM.ORG article Omim 261100 |
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Orphanet article Orphanet ID 35858 |
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Wikipedia article Wikipedia EN (Imerslund–Gräsbeck_syndrome) |