Living with Amelogenesis imperfecta type 1G
An extremely rare genetic condition with thin tooth enamel and calcium buildup in the kidneys.
Understanding Amelogenesis imperfecta type 1G
Teeth can be yellow and misshapen, come in late, and have calcium deposits inside. The kidney calcium buildup (nephrocalcinosis) often causes no symptoms. In late childhood or early adulthood, it can progress to reduced kidney function, repeated urinary infections, or renal tubular acidosis. It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weak tooth enamel
- Yellow or discolored teeth
- Late-coming teeth
- Overgrown gums
- Teeth stuck under the gum (impacted teeth)
- Bedwetting (enuresis)
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, gum, teeth and mouth specialists and kidney specialists.
- 3Consider genetic testing
Changes in FAM20A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 National Kidney Foundation 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
Changes in the FAM20A gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: absent enamel, nephrocalcinosis and apparently normal calcium metabolism; ai1g; aigfs; amelogenesis imperfecta and gingival fibromatosis syndrome; amelogenesis imperfecta and nephrocalcinosis; amelogenesis imperfecta caused by mutation in fam20a
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Amelogenesis imperfecta type 1G.
Explore research for Amelogenesis imperfecta type 1G
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