Congenital chloride diarrhea

Congenital chloride diarrhea is a rare genetic disorder caused by an autosomal recessive mutation on chromosome 7. The mutation lies in the gene for downregulated-in-adenoma, a protein of intestinal cells that belongs to the solute carrier 26 family of membrane transport proteins. More than twenty mutations in this gene are known. The condition occurs in all parts of the world, but it is more common in some populations where a genetic founder effect has concentrated the mutation, most notably in Finland. The atlas records it as an inherited disorder of intestinal ion transport, useful for readers comparing how single-gene mutations in a membrane transport protein produce a distinct clinical disease. This entry does not give medical advice.