pancreatic agenesis

Genetics

• autosomal recessive
• associated with defects in PDX1
  • associated with a frameshift mutation in the PDX1 gene that produces a truncated PDX1 protein & results in a second initiation that produces a second protein that act as a dominant negative mutant

Clinical manifestations

• absence or hypoplasia of pancreas, leading to early-onset insulin-dependent diabetes mellitus

More general terms

• genetic disease of the endocrine system
• developmental disorder
• pancreatic disease

Database

• OMIM: https://mirror.omim.org/entry/260370