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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
General
genetic disease of the endocrine system
developmental disorder
pancreatic disease
Database Correlations
OMIM 260370
References
OMIM :accession 260370