Living with TMEM199-CDG
A rare genetic condition (TMEM199-CDG) that causes long-lasting, steady liver problems, often without symptoms.
Understanding TMEM199-CDG
Liver tests may show mild fat buildup, raised liver enzymes and cholesterol, and low levels of some clotting factors. A liver biopsy may show mild scarring (fibrosis) that does not progress. People usually have no symptoms. Delayed development and low muscle tone have been reported in single cases.
Signs & symptoms
GARD lists few symptoms for this condition. People usually have none, but may have:
- Enlarged liver (hepatomegaly)
- Scarring of the liver (hepatic fibrosis)
- Decreased liver function
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 VMA12 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
This condition is caused by changes in the VMA12 gene. 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 iip; cdg (congenital disorder of glycosylation) syndrome type iip; cdg iip; cdg syndrome type iip; cdg-iip; cdg2p
Patient organizations
- CDG CARETMEM199-CDG · United States
You are more than your diagnosis
Perspectives from people navigating life with TMEM199-CDG.
Explore research for TMEM199-CDG
Explore actively recruiting TMEM199-CDG studies with HealthSpark.
Find actively recruiting studies for TMEM199-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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