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Other Names for this Disease
- Defect of enterocyte intrinsic factor receptor
- Enterocyte cobalamin malabsorption
- Familial megaloblastic anemia
- Gräsbeck-Imerslund disease
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vitamin B12 deficiency, often causing megaloblastic anemia. IGS usually appears in childhood. Other features may include failure to thrive, infections, and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of affected individuals. IGS is caused by mutations in either the CUBN or AMN gene and is inherited in an autosomal recessive manner. Treatment includes life-long vitamin B12 injections, with which affected individuals can stay healthy for decades.Imerslund-Grasbeck syndrome (IGS) is a rare condition characterized by
Last updated: 1/6/2014
- Grasbeck R. Imerslund-Grasbeck syndrome. Orphanet. May 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35858. Accessed 7/6/2011.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
In Depth Information
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- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Imerslund-Grasbeck syndrome. Click on the link to go to OMIM and review these resources.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Imerslund-Grasbeck syndrome. Click on the link to view a sample search on this topic.