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Pancreatic agenesis 1

MONDO:0024547

Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene.

Also known as: PDX1 pancreatic agenesis, pancreatic agenesis 1, pancreatic agenesis caused by mutation in PDX1, PAGEN1, Pagen, pancreatic hypoplasia, congenital

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (679) Hereditary disease (176) Human disease (14) Disease of genetic or genomic mechanism (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0) Disorder of development or morphogenesis (0) Pancreatic agenesis (0)
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  • Newborn screening study aims to catch rare diseases at birth

    Diagnosis Ongoing

    This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

    Sponsor: RTI International • Aim: Diagnosis

    Last updated Jul 03, 2026 00:00 UTC

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