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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Leprechaunism


Other Names for this Disease

  • Donohue syndrome
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

Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, pre- and postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy (reduced muscle mass) and enlarged external genitalia in both males and females. The condition is caused by mutations in the insulin receptor gene (INSR) gene. It is inherited in an autosomal recessive manner.[1][2][3]
Last updated: 9/15/2014

References

  1. Baykan A. Leprechaunism. National Organization for Rare Disorders (NORD). 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/387/viewAbstract. Accessed 9/15/2014.
  2. Capeau J. Leprechaunism. Orphanet. January 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=508. Accessed 9/15/2014.
  3. Donohue Syndrome. Online Mendelian Inheritance in Man (OMIM). February 14, 2011; http://omim.org/entry/246200. Accessed 9/15/2014.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Leprechaunism. We will answer your question and update these pages with new resources and information.

Basic Information

  • Genetics Home Reference (GHR) contains information on Leprechaunism. 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

  • Online Mendelian Inheritance in Man (OMIM) is a 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 Leprechaunism. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Donohue syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.