Pancreatic agenesis

Common Name(s)

Pancreatic agenesis

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 GATA6, PDX1, and PTF1A genes have been found to cause pancreatic agenesis.
 

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pancreatic agenesis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pancreatic agenesis" returned 7 free, full-text research articles on human participants. First 3 results:

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
 

Author(s): Michael N Weedon, Inês Cebola, Ann-Marie Patch, Sarah E Flanagan, Elisa De Franco, Richard Caswell, Santiago A Rodríguez-Seguí, Charles Shaw-Smith, Candy H-H Cho, Hana Lango Allen, Jayne A L Houghton, Christian L Roth, Rongrong Chen, Khalid Hussain, Phil Marsh, Ludovic Vallier, Anna Murray, , Sian Ellard, Jorge Ferrer, Andrew T Hattersley

Journal: Nat. Genet.. 2014 Jan;46(1):61-4.

 

The contribution of cis-regulatory mutations to human disease remains poorly understood. Whole-genome sequencing can identify all noncoding variants, yet the discrimination of causal regulatory mutations represents a formidable challenge. We used epigenomic annotation in human embryonic ...

Last Updated: 27 Dec 2013

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GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency.
 

Author(s): Elisa De Franco, Charles Shaw-Smith, Sarah E Flanagan, Maggie H Shepherd, , Andrew T Hattersley, Sian Ellard

Journal: Diabetes. 2013 Mar;62(3):993-7.

 

We recently reported de novo GATA6 mutations as the most common cause of pancreatic agenesis, accounting for 15 of 27 (56%) patients with insulin-treated neonatal diabetes and exocrine pancreatic insufficiency requiring enzyme replacement therapy. We investigated the role of GATA6 ...

Last Updated: 22 Feb 2013

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GATA6 haploinsufficiency causes pancreatic agenesis in humans.
 

Author(s): Hana Lango Allen, Sarah E Flanagan, Charles Shaw-Smith, Elisa De Franco, Ildem Akerman, Richard Caswell, , Jorge Ferrer, Andrew T Hattersley, Sian Ellard

Journal:

 

Understanding the regulation of pancreatic development is key for efforts to develop new regenerative therapeutic approaches for diabetes. Rare mutations in PDX1 and PTF1A can cause pancreatic agenesis, however, most instances of this disorder are of unknown origin. We report de novo ...

Last Updated: 27 Dec 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pancreatic agenesis" returned 1 free, full-text review articles on human participants. First 3 results:

The novel triad of dorsal agenesis of the pancreas with concurrent pancreatic ductal adenocarcinoma and nonalcoholic chronic calcific pancreatitis: a case series and review of the literature.
 

Author(s): David W Rittenhouse, Eugene P Kennedy, Andres A Mascaro, Jennifer L Brumbaugh, Louis H Stein, Laura H Rosenberger, Patricia K Sauter, Charles J Yeo, Harish Lavu

Journal: J. Gastrointest. Surg.. 2011 Sep;15(9):1643-9.

 

Dorsal agenesis of the pancreas (DAP) is a rare congenital anomaly, with only 44 cases having been reported in the English literature since 1966.

Last Updated: 23 Aug 2011

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.