Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
A rare genetic intestinal disease characterized by early-onset chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism dehydration metabolic acidosis and electrolyte disturbances. Intestinal dysmotility small-bowel obstruction and esophagitis (with or without esophageal hernia) as well as irritable bowel syndrome (without severe abdominal pain) and Crohn’s disease are frequently associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Chronic infantile diarrhea due to guanylate cyclase 2C overactivity?
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