Congenital Diarrheas and Enteropathies or CoDE disorders are rare neonatal or infantile onset diseases that are caused by monogenic mutations in genes important for epithelial intestinal structure and function. Examples of these disorders include (causal gene(s) in brackets):
- Microvillus Inclusion Disease (MYO5B)
- Tufting Enteropathy(EpCAM1/SPINT2)
- Enteric Endocrinopathies(NEUROG3/PCSK1)
Congenital Chloride Diarrhea (SLC26A3)
Diagnostic evaluation involves histopathological analysis and genomic sequencing - see Advances in Evaluation of Chronic Diarrhea in Infants
CoDE patients are seen in our dedicated Congenital Enteropathy Program at BCH.
We are investigating the genetic and biology of CoDE disorders including TTC7A deficiency and Microvillus Inclusion Disease.
We work as part of a multi-center consortium - PediCoDE - to understand these disorders and develop new treatments.