Living with CCDC115-CDG
A rare metabolic condition that begins in infancy and affects the liver, muscle tone, and development.
Understanding CCDC115-CDG
It begins in infancy with an enlarged liver and spleen, liver problems that worsen over time, low muscle tone, and delayed development. Mild facial differences and seizures have also been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged liver and spleen
- Liver failure
- Low muscle tone (hypotonia)
- Delayed development overall
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 genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in VMA22 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 may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: CDG CARE
- 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
- 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
Changes in the VMA22 gene cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent.
Also known as: carbohydrate deficient glycoprotein syndrome type iio; ccdc115 congenital disorder of glycosylation; ccdc115-cdg - coiled-coil domain containing 115 congenital disorder of glycosylation; cdg iio; cdg syndrome type iio; cdg-iio
Patient organizations
- CDG CARECCDC115-CDG · United States
You are more than your diagnosis
Perspectives from people navigating life with CCDC115-CDG.
Explore research for CCDC115-CDG
Explore actively recruiting CCDC115-CDG studies with HealthSpark.
Find actively recruiting studies for CCDC115-CDG with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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