Overview
Isolated agenesis of the gallbladder is a rare congenital condition in which a person is born without a gallbladder, and this occurs without other major birth defects or organ abnormalities. The gallbladder is a small, pear-shaped organ located beneath the liver that normally stores bile, a fluid produced by the liver to help digest fats. When the gallbladder is absent from birth, bile flows directly from the liver into the small intestine through the bile ducts instead of being stored and concentrated. Many people with this condition have no symptoms at all and may never know they are missing their gallbladder unless it is discovered incidentally during imaging for another reason. However, some individuals develop symptoms that can mimic gallbladder disease, including upper right abdominal pain, nausea, bloating, fatty food intolerance, and indigestion. These symptoms can be confusing because doctors may initially suspect gallstones or other gallbladder problems. This condition is important to recognize, especially before any planned surgery. In some cases, surgeons have attempted laparoscopic cholecystectomy (gallbladder removal surgery) only to discover that no gallbladder exists. Diagnosis is typically made through imaging studies such as ultrasound, CT scan, or MRI. In most cases, no treatment is needed. For those who experience digestive symptoms, dietary changes and medications to manage bile flow or digestion may be helpful. The overall prognosis is excellent, and the condition does not typically shorten life expectancy.
Key symptoms:
No symptoms at all in many casesUpper right abdominal painNauseaBloating after mealsDifficulty digesting fatty foodsIndigestionVomitingJaundice in rare cases if bile ducts are affectedAbdominal discomfort that mimics gallstone attacks
Sporadic
Usually appears on its own, not inherited from a parent
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Isolated agenesis of gallbladder.
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Specialists
View all specialists →No specialists are currently listed for Isolated agenesis of gallbladder.
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 Isolated agenesis of gallbladder.
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Caregiver Resources
NORD Caregiver Resources
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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 can we be sure the gallbladder is truly absent and not just in an unusual location?,Should I have any additional imaging tests to check my bile ducts?,Are there any dietary changes I should make to help with digestion?,Could this condition be related to any other health problems I should be screened for?,Should my family members be checked for this condition?,What should I tell future doctors or surgeons about this diagnosis?,Are there any medications that could help if I develop digestive symptoms?
Common questions about Isolated agenesis of gallbladder
What is Isolated agenesis of gallbladder?
Isolated agenesis of the gallbladder is a rare congenital condition in which a person is born without a gallbladder, and this occurs without other major birth defects or organ abnormalities. The gallbladder is a small, pear-shaped organ located beneath the liver that normally stores bile, a fluid produced by the liver to help digest fats. When the gallbladder is absent from birth, bile flows directly from the liver into the small intestine through the bile ducts instead of being stored and concentrated. Many people with this condition have no symptoms at all and may never know they are missin
How is Isolated agenesis of gallbladder inherited?
Isolated agenesis of gallbladder follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.