Living with COG7 congenital disorder of glycosylation
A very rare condition seen in infants, with facial and skeletal differences, low muscle tone, liver and spleen enlargement, and seizures.
Understanding COG7 congenital disorder of glycosylation
Features include facial differences, skeletal differences, low muscle tone, enlarged liver and spleen, jaundice, heart problems, repeated infections, and epilepsy. It is caused by a change in the gene for COG-7, part of a cell structure called the Golgi complex. GARD lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary. GARD lists these among the most common:
- Facial differences
- Differences in the fingers
- Heart and kidney differences
- Low muscle tone and weak reflexes
- Brain shrinkage
- Diarrhea
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists, heart and blood vessel specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in COG7 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
CDG CARE and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: CDG CARE, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CDG CARE and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the COG7 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: carbohydrate deficient glycoprotein syndrome type iie; cdg iie; cdg syndrome type iie; cdg-iie; cdg2e; cog7 (component of oligomeric golgi complex 7) congenital disorder of glycosylation
Patient organizations
- CDG CARECOG7 congenital disorder of glycosylation · United States
- Epilepsy FoundationEpilepsy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with COG7 congenital disorder of glycosylation.
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