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 9 free, full-text research articles on human participants. First 3 results:

Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations.
 

Author(s): Christina S Chao, Kristen D McKnight, Kenneth L Cox, Anne L Chang, Seung K Kim, Brian J Feldman

Journal:

 

Patients with pancreatic agenesis are born without a pancreas, causing permanent neonatal diabetes and pancreatic enzyme insufficiency. These patients require insulin and enzyme replacement therapy to survive, grow, and maintain normal blood glucose levels. Pancreatic agenesis is ...

Last Updated: 24 Feb 2015

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A novel mutation in GATA6 causes pancreatic agenesis.
 

Author(s): Diana E Stanescu, Nkecha Hughes, Puja Patel, Diva D De León

Journal: Pediatr Diabetes. 2015 Feb;16(1):67-70.

 

Heterozygous mutations in GATA6 have been linked to pancreatic agenesis and cardiac malformations. The aim of this study was to describe a new mutation in GATA6 in an infant with pancreatic agenesis, associated with truncus arteriosus and absent gallbladder. Clinical data were obtained ...

Last Updated: 21 Jan 2015

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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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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.