Overview
Hepatic veno-occlusive disease with immunodeficiency syndrome, often called VODI syndrome, is a very rare inherited condition that affects two major body systems at the same time: the liver and the immune system. The disease is caused by a faulty gene that disrupts how certain cells in the body work, leading to blockages in the small blood vessels inside the liver and a severely weakened immune system that cannot fight off infections properly. In the liver, the tiny veins that drain blood become blocked or scarred, a process called veno-occlusive disease (also known as sinusoidal obstruction syndrome). This causes the liver to swell, fluid to build up in the belly, and eventually serious liver damage. At the same time, the immune system is missing key cells and proteins it needs to defend the body, making affected children extremely vulnerable to life-threatening infections, especially from viruses and fungi. Symptoms usually appear in the first months of life and can be severe. Without treatment, the disease is often fatal in early childhood. The main treatment approach is a stem cell transplant, which can correct the immune deficiency, though liver disease may still need ongoing management. Early diagnosis is critical to improving outcomes.
Also known as:
Key symptoms:
Swollen, enlarged liverSwollen belly due to fluid buildup (ascites)Yellowing of the skin and eyes (jaundice)Repeated and severe infections from an early ageFailure to gain weight and grow normallyEnlarged spleenEasy bruising or bleedingFever that keeps coming backExtreme tiredness and low energyDiarrheaFungal infections that are hard to treatViral infections that are unusually severe
Clinical phenotype terms (39)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Hepatic veno-occlusive disease-immunodeficiency syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Hepatic veno-occlusive disease-immunodeficiency syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Hepatic veno-occlusive disease-immunodeficiency syndrome.
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 Hepatic veno-occlusive disease-immunodeficiency syndrome.
Community
No community posts yet. Be the first to share your experience with Hepatic veno-occlusive disease-immunodeficiency syndrome.
Start the conversation →Latest news about Hepatic veno-occlusive disease-immunodeficiency syndrome
No recent news articles for Hepatic veno-occlusive disease-immunodeficiency syndrome.
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.Is genetic testing available for our whole family, and should siblings be tested even if they seem healthy?,What is the best timing for a stem cell transplant, and how do we find the right donor?,What infections should we be most worried about, and what precautions should we take at home?,How will you monitor my child's liver disease, and what signs should prompt us to call you immediately?,Are there any clinical trials or research studies our child might be eligible for?,What long-term complications should we watch for after a stem cell transplant?,Can you connect us with other families or patient support groups who have experience with this condition?
Common questions about Hepatic veno-occlusive disease-immunodeficiency syndrome
What is Hepatic veno-occlusive disease-immunodeficiency syndrome?
Hepatic veno-occlusive disease with immunodeficiency syndrome, often called VODI syndrome, is a very rare inherited condition that affects two major body systems at the same time: the liver and the immune system. The disease is caused by a faulty gene that disrupts how certain cells in the body work, leading to blockages in the small blood vessels inside the liver and a severely weakened immune system that cannot fight off infections properly. In the liver, the tiny veins that drain blood become blocked or scarred, a process called veno-occlusive disease (also known as sinusoidal obstruction
How is Hepatic veno-occlusive disease-immunodeficiency syndrome inherited?
Hepatic veno-occlusive disease-immunodeficiency syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hepatic veno-occlusive disease-immunodeficiency syndrome typically begin?
Typical onset of Hepatic veno-occlusive disease-immunodeficiency syndrome is infantile. Age of onset can vary across affected individuals.