Living with X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
A type of amelogenesis imperfecta passed down on the X chromosome. GARD has little detail on it so far.
Understanding X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
GARD says it is associated with a gene change in the Xq22-q28 region of the X chromosome. GARD doesn't give more detail in this record.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 rare disease patient organizations for support
- 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 it is linked to a gene change in the Xq22-q28 region of the X chromosome and follows X-linked inheritance.
Also known as: aih3; aih3 ( formerly); amelogenesis imperfecta 3, hypoplastic type (formerly); amelogenesis imperfecta type ie x-linked 2; amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked type 2; amelogenesis imperfecta, type ie, x-linked 2
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2.
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