pancreatic agenesis—congenital

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pancreatic agenesis—congenital2016-11-27T16:04:34+00:00

pancreatic agenesis—congenital 

ENDOCRINOLOGY, GASTROENTEROLOGY

Definition An autosomal recessive disorder (OMIM:260370) characterised by endocrine and exocrine pancreatic insufficiency and neonatal onset of insulin-dependent diabetes.

Molecular pathology A frameshift mutation in PDX1, which encodes a transcription activator that regulates tissue-specific expression of multiple genes, including that for insulin promoter factor-1, cause pancreatic agenesis—congenital. 

Synonyms PAGEN, pancreatic hypoplasia—congenital

References http://www.uniprot.org/uniprot/P52945

http://www.omim.org/entry/260370

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