Overview
Genetic gastro-esophageal disease is a broad category term used by Orphanet (code 165658) to group together rare inherited conditions that primarily affect the esophagus (the tube that carries food from your mouth to your stomach) and the stomach. These conditions are caused by changes (mutations) in genes that play a role in how the esophagus and stomach develop or function. Because this is a grouping category rather than a single specific disease, the exact symptoms can vary widely depending on the particular condition involved. Some examples of conditions that fall under this umbrella include genetic forms of gastroesophageal reflux disease, congenital esophageal abnormalities, and inherited disorders affecting the muscles or nerves of the esophagus and stomach. Common symptoms across these conditions may include difficulty swallowing, chronic heartburn or acid reflux, nausea, vomiting, poor weight gain (especially in children), and abdominal pain. In some cases, the esophagus may be narrowed, malformed, or may not move food properly due to nerve or muscle problems. The severity ranges from mild discomfort to serious complications like malnutrition or aspiration (food entering the lungs). Treatment depends on the specific underlying condition and may include dietary changes, medications to reduce stomach acid, surgical correction of structural problems, and supportive care to ensure proper nutrition. Because these are genetic conditions, a thorough evaluation by a clinical geneticist alongside a gastroenterologist is important for accurate diagnosis and management planning.
Key symptoms:
Difficulty swallowing (dysphagia)Chronic heartburn or acid refluxNausea and vomitingPoor weight gain or failure to thrive in childrenAbdominal pain or discomfortFood getting stuck in the throat or chestRegurgitation of foodChronic cough or choking during mealsBloating or feeling full quicklyChest pain unrelated to the heartPoor appetiteRecurrent respiratory infections from aspiration
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
2 eventsNouscom SRL — PHASE1, PHASE2
National Cancer Institute (NCI) — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
2 availableOmeprazole
Treatment of symptomatic gastroesophageal reflux disease (GERD) in patients 2 years of age and older
LONSURF
LONSURF is indicated for the treatment of adult patients with metastatic gastric or gastroesophageal junction adenocarcinoma previously treated with at least two prior lines of chemotherapy that inclu…
LONSURF is indicated for the treatment of adult patients with metastatic gastric or gastroesophageal junction adenocarcinoma previously treated with at least two prior lines of chemotherapy that included a fluoropyrimidine, a platinum, either a taxane or irinotecan, and if appropriate, HER2/neu-targeted therapy.
Clinical Trials
View all trials with filters →No actively recruiting trials found for Genetic gastro-esophageal disease at this time.
New trials open frequently. Follow this disease to get notified.
Rare Disease Specialist
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
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to Genetic gastro-esophageal disease.
Community
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Start the conversation →Latest news about Genetic gastro-esophageal disease
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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.What specific genetic condition do I or my child have within this category, and what gene is involved?,What tests are needed to confirm the diagnosis and rule out other conditions?,What are the best treatment options for managing symptoms right now?,Are there any dietary changes that could help reduce symptoms?,Is this condition likely to get better, stay the same, or get worse over time?,Should other family members be tested for this genetic condition?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Genetic gastro-esophageal disease
What is Genetic gastro-esophageal disease?
Genetic gastro-esophageal disease is a broad category term used by Orphanet (code 165658) to group together rare inherited conditions that primarily affect the esophagus (the tube that carries food from your mouth to your stomach) and the stomach. These conditions are caused by changes (mutations) in genes that play a role in how the esophagus and stomach develop or function. Because this is a grouping category rather than a single specific disease, the exact symptoms can vary widely depending on the particular condition involved. Some examples of conditions that fall under this umbrella inclu
Which specialists treat Genetic gastro-esophageal disease?
14 specialists and care centers treating Genetic gastro-esophageal disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Genetic gastro-esophageal disease?
1 patient support program are currently tracked on UniteRare for Genetic gastro-esophageal disease. See the treatments and support programs sections for copay assistance, eligibility, and contact details.