Overview
COG2-CDG, also known as Congenital Disorder of Glycosylation type IIl (CDG-IIl), is an extremely rare inherited metabolic disease caused by mutations in the COG2 gene. This gene provides instructions for making a protein that is part of the Conserved Oligomeric Golgi (COG) complex, which plays a key 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 COG2-CDG typically show symptoms early in life, including developmental delay, intellectual disability, poor muscle tone (hypotonia), seizures, and failure to thrive. Liver problems, abnormal blood clotting, and distinctive facial features may also be present. Some children experience microcephaly (a smaller-than-expected head size) and problems with movement and coordination. There is currently no cure for COG2-CDG. Treatment focuses on managing individual symptoms and supporting the child's development. This may include physical therapy, occupational therapy, anti-seizure medications, nutritional support, and regular monitoring by a team of specialists. Because the condition is so rare, much of the medical knowledge comes from a very small number of reported cases, and research is ongoing to better understand the disease and develop new therapies.
Also known as:
Key symptoms:
Developmental delayIntellectual disabilityLow muscle tone (floppiness)SeizuresFailure to thrive or poor weight gainSmall head sizeLiver problemsAbnormal blood clotting or easy bleedingFeeding difficultiesDistinctive facial featuresMovement and coordination problemsSpeech delayShort statureRecurrent infections
Clinical phenotype terms (13)— 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 COG2-CDG.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for COG2-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 COG2-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.What specific symptoms should I watch for that would need emergency care?,How often should my child have blood tests to check liver function and clotting?,What therapies (physical, occupational, speech) do you recommend and how often?,Are there any clinical trials or experimental treatments available for COG2-CDG?,Should other family members be tested to see if they are carriers?,What nutritional support does my child need, and should we see a dietitian?,How can we best support my child's development and education?
Common questions about COG2-CDG
What is COG2-CDG?
COG2-CDG, also known as Congenital Disorder of Glycosylation type IIl (CDG-IIl), is an extremely rare inherited metabolic disease caused by mutations in the COG2 gene. This gene provides instructions for making a protein that is part of the Conserved Oligomeric Golgi (COG) complex, which plays a key 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 COG2-CDG typically show symptoms early in life, including developmental delay, intellectual disab
How is COG2-CDG inherited?
COG2-CDG follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does COG2-CDG typically begin?
Typical onset of COG2-CDG is infantile. Age of onset can vary across affected individuals.