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Genetic and Rare Diseases Information Center (GARD)

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Pancreatic agenesis


Other Names for this Disease

  • Congenital pancreatic agenesis
  • Pancreatic agenesis, congenital
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

Pancreatic agenesis is a rare condition that occurs when the pancreas fails to develop before birth. The severity depends on how much functional pancreatic tissue is present. Children with this condition usually have permanent neonatal diabetes mellitus due to a lack of insulin. Pancreatic agenesis can also be associated with abnormalities in other parts of the body. Mutations in the GATA6PDX1, and PTF1A genes have been found to cause pancreatic agenesis.[1][2][3]
Last updated: 8/2/2012

References

  1. Bougnères P, Bargy F. Partial pancreas agenesis. Orphanet. May 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805. Accessed 10/19/2011.
  2. Baumeister FA, Engelsberger I, Schulze A. Pancreatic agenesis as cause for neonatal diabetes mellitus. Klinische Padiatrie. March-April 2005; 217(2):76-81. http://www.ncbi.nlm.nih.gov/pubmed/15770578. Accessed 10/19/2011.
  3. Allen HL, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R, et.al. GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nature Genetics. Dec 11, 2011; 44(1):20-22. http://www.ncbi.nlm.nih.gov/pubmed/22158542. Accessed 1/1/1900.
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Basic Information

  • NetWellness is a consumer health web site that provides information created and evaluated by medical and health professional faculty. Click on the link to read a question in the Ask an Expert section about pancreatic agenesis.

In Depth Information

  • The 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.
Other Names for this Disease
  • Congenital pancreatic agenesis
  • Pancreatic agenesis, congenital
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.