Overview
Rare gastroesophageal disease is a broad category used in medical classification systems (Orphanet code 101936) to group uncommon conditions that affect the esophagus (the tube that carries food from your mouth to your stomach) and the stomach. Because this is a grouping term rather than a single specific disease, it covers a range of rare disorders that can cause problems with swallowing, digestion, stomach acid regulation, and the structure or function of the upper digestive tract. Symptoms can vary widely depending on the specific condition involved but often include difficulty swallowing (dysphagia), heartburn or acid reflux that does not respond well to standard treatments, chest pain, nausea, vomiting, and unexplained weight loss. Some of these conditions may involve abnormal tissue growth, inflammation, or structural abnormalities of the esophagus or stomach lining. Treatment depends entirely on the specific rare gastroesophageal condition diagnosed. Options may range from dietary changes and medications to control acid and inflammation, to surgical procedures in more severe cases. Because these diseases are rare, patients often benefit from being seen at specialized centers with experience in uncommon digestive disorders. Early diagnosis and a coordinated care team are important for managing symptoms and preventing complications.
Key symptoms:
Difficulty swallowing food or liquidsPersistent heartburn or acid refluxChest pain not related to the heartNausea and vomitingUnexplained weight lossFeeling of food getting stuck in the throat or chestPain when swallowingRegurgitation of food or sour liquidBloating or feeling full quicklyChronic cough or hoarsenessLoss of appetiteAbdominal pain or discomfort
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
1 availableCimetidine
Erosive gastroesophageal reflux (GERD). Erosive esophagitis diagnosed by endoscopy. Treatment is indicated for 12 weeks for healing of lesions and control of symptoms
Clinical Trials
View all trials with filters →No actively recruiting trials found for Rare gastroesophageal disease at this time.
New trials open frequently. Follow this disease to get notified.
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 Rare gastroesophageal disease.
Community
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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 is the specific rare gastroesophageal condition I have, and what causes it?,Is my condition hereditary, and should my family members be tested?,What tests or monitoring will I need on a regular basis?,What are the best treatment options for my specific condition?,Are there any dietary changes that could help manage my symptoms?,Should I be referred to a specialized center with experience in rare digestive diseases?,Are there any clinical trials or new treatments being studied for my condition?
Common questions about Rare gastroesophageal disease
What is Rare gastroesophageal disease?
Rare gastroesophageal disease is a broad category used in medical classification systems (Orphanet code 101936) to group uncommon conditions that affect the esophagus (the tube that carries food from your mouth to your stomach) and the stomach. Because this is a grouping term rather than a single specific disease, it covers a range of rare disorders that can cause problems with swallowing, digestion, stomach acid regulation, and the structure or function of the upper digestive tract. Symptoms can vary widely depending on the specific condition involved but often include difficulty swallowing
Which specialists treat Rare gastroesophageal disease?
1 specialists and care centers treating Rare gastroesophageal disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.