Overview
COG6-CDG (also known as COG6-Congenital Disorder of Glycosylation, previously called CDG-IIL) is an extremely rare inherited metabolic condition caused by changes (mutations) in the COG6 gene. This gene provides instructions for making a protein that is part of the Conserved Oligomeric Golgi (COG) complex, which plays an important role in how the body attaches sugar molecules to proteins — a process called glycosylation. When this process does not work properly, many organs and systems in the body can be affected. Children with COG6-CDG typically show symptoms early in life, often in the newborn period or infancy. Common features include poor growth (failure to thrive), developmental delay, intellectual disability, low muscle tone (hypotonia), liver problems, recurrent infections, and bleeding or clotting issues. Some children may also have seizures, hearing loss, skin abnormalities, and skeletal problems. The severity of the condition can vary from person to person. There is currently no cure for COG6-CDG. Treatment focuses on managing individual symptoms and supporting the child's development. This may include nutritional support, physical and occupational therapy, treatment of infections, and management of liver or blood-related complications. A team of specialists is usually needed to provide comprehensive care. Research into congenital disorders of glycosylation is ongoing, and new therapies are being explored.
Also known as:
Key symptoms:
Poor growth and failure to thriveDevelopmental delayIntellectual disabilityLow muscle tone (floppy baby)Liver problemsRecurrent infectionsBleeding or easy bruisingSeizuresHearing lossSkin abnormalitiesFeeding difficultiesSkeletal abnormalitiesElevated body temperature or unexplained feversVomiting and diarrhea
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for COG6-CGD.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for COG6-CGD at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for COG6-CGD.
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 COG6-CGD.
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 specific COG6 mutations does my child have, and what do they mean for the expected course of the disease?,What organs should be monitored regularly, and how often should we schedule check-ups?,Are there any clinical trials or experimental treatments available for COG6-CDG?,What signs of complications should I watch for at home that would require emergency care?,What developmental therapies do you recommend, and how often should they occur?,Should other family members be tested for carrier status?,Can you connect us with other families affected by CDG or a patient support organization?
Common questions about COG6-CGD
What is COG6-CGD?
COG6-CDG (also known as COG6-Congenital Disorder of Glycosylation, previously called CDG-IIL) is an extremely rare inherited metabolic condition caused by changes (mutations) in the COG6 gene. This gene provides instructions for making a protein that is part of the Conserved Oligomeric Golgi (COG) complex, which plays an important role in how the body attaches sugar molecules to proteins — a process called glycosylation. When this process does not work properly, many organs and systems in the body can be affected. Children with COG6-CDG typically show symptoms early in life, often in the newb
How is COG6-CGD inherited?
COG6-CGD follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does COG6-CGD typically begin?
Typical onset of COG6-CGD is neonatal. Age of onset can vary across affected individuals.