What is Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency?
Intestinal obstruction in the newborn due to guanylate cyclase 2C (GC-C) deficiency is an extremely rare genetic condition that affects newborn babies. It is caused by mutations in the GUCY2C gene, which provides instructions for making a protein called guanylate cyclase 2C. This protein plays an important role in regulating fluid balance in the intestines. When this protein is missing or not working properly, the intestines cannot manage fluid and movement of contents normally, leading to a blockage (obstruction) in the bowel shortly after birth. Newborns with this condition typically present with meconium ileus, which means the baby's first stool (called meconium) becomes abnormally thick and sticky, blocking the intestine. Symptoms include a swollen belly, vomiting (often bile-stained or green), failure to pass stool after birth, and feeding difficulties. Without prompt treatment, this blockage can become life-threatening. Treatment usually involves surgical intervention to relieve the intestinal blockage. In some cases, contrast enemas may help clear the obstruction without surgery. After the initial obstruction is resolved, children may need ongoing monitoring for digestive issues. This condition is distinct from cystic fibrosis, which is another well-known cause of meconium ileus in newborns. Early recognition and treatment are critical for a good outcome.
Also known as:
Key symptoms:
Failure to pass first stool (meconium) after birthSwollen or distended bellyGreen or bile-stained vomitingFeeding difficultiesThick, sticky meconium blocking the intestineAbdominal pain or irritabilityDehydrationChronic diarrhea after the obstruction is resolvedPoor weight gainElectrolyte imbalances
- Inheritance
- Autosomal recessive
- Passed on when both parents carry the same gene change; often skips generations
- Age of Onset
- Neonatal
- Begins at or shortly after birth (first 4 weeks)
Treatments
Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly
No FDA-approved treatments are currently listed for Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency.
View clinical trials →Clinical Trials
View all trials with filters →Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest
No actively recruiting trials found for Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)
No specialists are currently listed for Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency.
Treatment Centers
8 centersSource: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months
Children's Hospital Colorado Rare Disease Program ↗
Children's Hospital Colorado
📍 Aurora, CO
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDBoston Children's Hospital Rare Disease Program ↗
Boston Children's Hospital
📍 Boston, MA
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
🏨 Children'sAnn & Robert H. Lurie Children's Hospital Genetics ↗
Lurie Children's Hospital
📍 Chicago, IL
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDCincinnati Children's Hospital Medical Center ↗
Cincinnati Children's
📍 Cincinnati, OH
👤 Boston Children's Hospital Rare Disease Program
🏨 Children'sNationwide Children's Hospital Rare Disease Center ↗
Nationwide Children's Hospital
📍 Columbus, OH
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency.
Community
No community posts yet. Be the first to share your experience with Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency.
Start the conversation →Latest news about Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC
No recent news articles for Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.Has cystic fibrosis been completely ruled out as a cause of my baby's intestinal obstruction?,Will my baby need surgery, or can the blockage be treated with a contrast enema?,What are the long-term digestive effects my child might experience?,Should our family undergo genetic testing to identify carriers?,What dietary changes or supplements might my child need as they grow?,How often will my child need follow-up visits with a gastroenterologist?,What are the chances of this condition occurring in future pregnancies?
Common questions about Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
What is Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency?
Intestinal obstruction in the newborn due to guanylate cyclase 2C (GC-C) deficiency is an extremely rare genetic condition that affects newborn babies. It is caused by mutations in the GUCY2C gene, which provides instructions for making a protein called guanylate cyclase 2C. This protein plays an important role in regulating fluid balance in the intestines. When this protein is missing or not working properly, the intestines cannot manage fluid and movement of contents normally, leading to a blockage (obstruction) in the bowel shortly after birth. Newborns with this condition typically presen
How is Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency inherited?
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency typically begin?
Typical onset of Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is neonatal. Age of onset can vary across affected individuals.
Frequently asked questions about Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency?
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:314376, OMIM 614665). It is typically inherited as autosomal recessive. Age of onset is generally neonatal. For verified primary sources, see the UniteRare Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency page.
How is Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency inherited?
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency follows autosomal recessive inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.
Are there FDA-approved treatments for Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency?
Approved treatments for Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency are tracked from openFDA and DailyMed primary sources. Many rare diseases have no specific FDA-approved therapy; for those, supportive care and management of complications form the basis of clinical care. Orphan-drug-designation status is noted where applicable.
Are there clinical trials for Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency?
Active clinical trials for Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency are tracked daily from ClinicalTrials.gov. Trial availability changes frequently; check the UniteRare trial listings for the current count and recruitment status. Sponsors of rare-disease research often welcome inquiries even when a trial is not actively recruiting at a given moment.
How do I find a specialist for Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency?
Verified Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency specialists are identified through ClinicalTrials.gov principal-investigator records, peer-reviewed publication authorship (via PubMed), and the NPPES NPI registry. NORD-designated Centers of Excellence and NIH-affiliated rare-disease clinics are also tracked. UniteRare's specialist directory is updated continuously as new evidence becomes available.
See full Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency page for complete clinical details, sources, and verified-specialist listings.
Cite this page
Select a citation format above to view and copy.