Overview
Chronic infantile diarrhea due to guanylate cyclase 2C (GC-C) overactivity is an extremely rare genetic condition that causes severe, watery diarrhea beginning in the first weeks or months of life. It is caused by a mutation in the GUCY2C gene, which provides instructions for making a protein called guanylate cyclase 2C. This protein is found in the lining of the intestines and plays a key role in regulating how much fluid is secreted into the gut. When the gene is mutated in a way that makes the protein overactive, the intestines produce too much fluid, leading to persistent, profuse watery diarrhea. Babies with this condition can become dangerously dehydrated and may have trouble gaining weight and growing properly. The diarrhea is secretory in nature, meaning it happens because the intestinal lining is actively pushing too much water and salt into the bowel, rather than because of an infection or inflammation. This can lead to serious electrolyte imbalances, metabolic problems, and failure to thrive if not managed carefully. Treatment is mainly supportive and focuses on replacing lost fluids and electrolytes, ensuring adequate nutrition (often through intravenous feeding in severe cases), and managing complications. There is currently no cure or targeted therapy that directly corrects the overactive protein. Some patients may improve as they grow older, but the condition can be life-threatening in infancy without aggressive medical support.
Key symptoms:
Severe watery diarrhea starting in the first weeks of lifeDehydrationFailure to thrive or poor weight gainElectrolyte imbalances (such as low sodium or potassium)Abdominal bloating or distensionMetabolic acidosis (too much acid in the blood)Increased susceptibility to infections due to malnutritionDependence on intravenous fluids or nutritionIrritability and fussiness in infantsFrequent, large-volume stools
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Chronic infantile diarrhea due to guanylate cyclase 2C overactivity.
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Specialists
View all specialists →No specialists are currently listed for Chronic infantile diarrhea due to guanylate cyclase 2C overactivity.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Chronic infantile diarrhea due to guanylate cyclase 2C overactivity.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's condition, and what is the expected course over time?,Will my child need intravenous nutrition, and if so, for how long?,What signs of dehydration or electrolyte problems should I watch for at home?,Are there any medications that might help reduce the diarrhea?,Should other family members be tested for the GUCY2C gene mutation?,What is the chance of passing this condition to future children?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
What is Chronic infantile diarrhea due to guanylate cyclase 2C overactivity?
Chronic infantile diarrhea due to guanylate cyclase 2C (GC-C) overactivity is an extremely rare genetic condition that causes severe, watery diarrhea beginning in the first weeks or months of life. It is caused by a mutation in the GUCY2C gene, which provides instructions for making a protein called guanylate cyclase 2C. This protein is found in the lining of the intestines and plays a key role in regulating how much fluid is secreted into the gut. When the gene is mutated in a way that makes the protein overactive, the intestines produce too much fluid, leading to persistent, profuse watery d
How is Chronic infantile diarrhea due to guanylate cyclase 2C overactivity inherited?
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Chronic infantile diarrhea due to guanylate cyclase 2C overactivity typically begin?
Typical onset of Chronic infantile diarrhea due to guanylate cyclase 2C overactivity is neonatal. Age of onset can vary across affected individuals.