Overview
CCDC115-CDG (also known as CCDC115-congenital disorder of glycosylation, or CDG type IIo) is an extremely rare inherited metabolic disease caused by changes (mutations) in the CCDC115 gene. This gene provides instructions for making a protein that helps maintain the proper acidic environment inside a part of the cell called the Golgi apparatus. When this protein does not work correctly, the Golgi cannot properly attach sugar chains to proteins and fats — a process called glycosylation. Since glycosylation is essential for many body functions, problems with it can affect multiple organs. Children with CCDC115-CDG typically present in infancy or early childhood with liver disease, which can range from mildly elevated liver enzymes to serious liver failure. Other common features include low muscle tone (hypotonia), developmental delay, intellectual disability, elevated blood levels of certain fats (hypercholesterolemia and hypertriglyceridemia), and problems with blood clotting. Some children also develop heart problems and skeletal abnormalities. The liver involvement is often the most prominent and concerning feature. There is currently no cure for CCDC115-CDG. Treatment is supportive and focuses on managing symptoms, particularly liver disease, nutritional support, and developmental therapies. Because so few patients have been identified worldwide, knowledge about the full range of symptoms and long-term outcomes is still growing. Early diagnosis through genetic testing and coordinated care by a team of specialists can help improve quality of life.
Also known as:
Key symptoms:
Liver disease or liver failureElevated liver enzymesLow muscle tone (floppiness)Developmental delayIntellectual disabilityHigh cholesterol levelsHigh triglyceride levelsProblems with blood clotting or easy bleedingEnlarged liverEnlarged spleenFailure to thrive or poor growthFeeding difficultiesSkeletal abnormalitiesHeart problemsSeizures
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 CCDC115-CDG.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for CCDC115-CDG at this time.
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Specialists
View all specialists →No specialists are currently listed for CCDC115-CDG.
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 CCDC115-CDG.
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.How severe is my child's liver involvement, and what should I watch for at home?,What developmental therapies do you recommend, and how often should they occur?,Are there any dietary changes or supplements that could help my child?,How often should blood tests and imaging be done to monitor the disease?,Is liver transplantation something we should consider now or in the future?,Are there any clinical trials or research studies my child could participate in?,Should other family members be tested to see if they are carriers?
Common questions about CCDC115-CDG
What is CCDC115-CDG?
CCDC115-CDG (also known as CCDC115-congenital disorder of glycosylation, or CDG type IIo) is an extremely rare inherited metabolic disease caused by changes (mutations) in the CCDC115 gene. This gene provides instructions for making a protein that helps maintain the proper acidic environment inside a part of the cell called the Golgi apparatus. When this protein does not work correctly, the Golgi cannot properly attach sugar chains to proteins and fats — a process called glycosylation. Since glycosylation is essential for many body functions, problems with it can affect multiple organs. Child
How is CCDC115-CDG inherited?
CCDC115-CDG follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does CCDC115-CDG typically begin?
Typical onset of CCDC115-CDG is infantile. Age of onset can vary across affected individuals.