Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Imerslund-Grasbeck syndrome


Other Names for this Disease

  • Defect of enterocyte intrinsic factor receptor
  • Enterocyte cobalamin malabsorption
  • Familial megaloblastic anemia
  • Gräsbeck-Imerslund disease
  • IGS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Imerslund-Grasbeck syndrome (IGS) is a rare condition characterized by 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.[1]
Last updated: 1/6/2014

References

  1. 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.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Imerslund-Grasbeck syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on Imerslund-Grasbeck syndrome. This website is maintained by the National Library of Medicine.
  • 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

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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.
Other Names for this Disease
  • Defect of enterocyte intrinsic factor receptor
  • Enterocyte cobalamin malabsorption
  • Familial megaloblastic anemia
  • Gräsbeck-Imerslund disease
  • IGS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.