Congenital Secretory Chloride Diarrhea 1 (SLC26A3)

Congenital secretory chloride diarrhea 1 is a gastroenterological autosomal recessive disorder caused by pathogenic variants in the gene SLC26A3. The age of onset of this disorder is infancy. This disorder is characterized by watery diarrhea, dehydration, hypokalemia (low potassium levels in the blood), metabolic alkalosis, poor growth, and abdominal distention. Infants with this disorder are typically born premature. No clear genotype-phenotype correlation has been established. Life expectancy is reduced if untreated.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):