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Disease Profile
Amelogenesis imperfecta
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
K00.5
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Categories
Congenital and Genetic Diseases
Summary
Amelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage with early tooth decay and loss. These dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. People with this disease my also have problems involving the
There are 4 main types of AI that are classified based on the symptoms,
Symptoms
The defects associated with amelogeneis imperfecta are highly variable and include abnormalities classified as hypoplastic (defects in the amount of enamel), hypomaturation (defect in the final growth and development of the tooth enamel), and hypocalcification (defect in the initial stage of enamel formation followed by defective tooth growth). The enamel in the hypomaturation and hypocalcification types is not mineralized and is thus described as hypomineralized.[2]
Traditionally, the diagnosis and classification of amelogenesis imperfecta is based on the clinical presentation and the mode of inheritance. There are four principal types based on the defects in the tooth enamel. These types are subdivided into 14 different subtypes based on the clinical presentation and the mode of inheritance.[2]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Yellow-brown discoloration of the teeth |
Yellow-brown discolored teeth
|
0006286 |
30%-79% of people have these symptoms | ||
Anterior open bite | 0200095 | |
Fragile teeth | 0025124 | |
Hypocalcification of dental enamel |
Decreased enamel calcification
Poorly calcified tooth enamel
[ more ] |
0011084 |
Hypomature dental enamel | 0011085 | |
Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
Impaired mastication |
Chewing difficulties
Chewing difficulty
Difficulty chewing
[ more ] |
0005216 |
5%-29% of people have these symptoms | ||
Abnormal jaw morphology | 0030791 | |
Abnormality of dentin |
Abnormal dentin
|
0010299 |
Multiple unerupted teeth |
Multiple non-erupting teeth
|
0006283 |
Taurodontia | 0000679 | |
Widely spaced teeth |
Wide-spaced teeth
Widely-spaced teeth
[ more ] |
0000687 |
Cause
In some cases, the genetic cause of amelogenesis imperfecta can not been identified. Researchers are working to find mutations in other genes that are responsible for this disorder.[1]
Click on each gene name to learn more about the role it plays in the development of tooth enamel.
Diagnosis
Extraoral
The American Academy of Pediatric Dentistry is a source of information to find a pediatric dentist. The National Dental Association can also assist people in locating a dentist.
Treatment
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Healthy Smiles, Healthy Children
211 E. Chicago Ave., Suite 1700
Chicago, IL 60611-2637
Telephone: (312) 337-2169
Fax: (312) 337-6329
E-mail: [email protected]
Website: https://www.aapd.org/foundation/
Organizations Providing General Support
-
American Academy of Pediatric Dentistry (AAPD)
211 East Chicago Avenue, Suite 1600
Chicago, IL 60611-2637
Telephone: (312) 337-2169
Fax: (312) 337-6329
E-mail: https://www.aapd.org/contact/
Website: https://www.aapd.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Amelogenesis imperfecta. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Amelogenesis imperfecta in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Amelogenesis imperfecta. Click on the link to view a sample search on this topic.
References
- Amelogenesis imperfecta. Genetics Home Reference (GHR). May 2015; https://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta.
- Wright JT. Amelogenesis Imperfecta. Developmental Defects of the Teeth. https://www.dentistry.unc.edu/dentalprofessionals/resources/defects/ai/.
- Amelogenesis Imperfecta. National Organization for Rare Diseases (NORD). 2018; https://rarediseases.org/rare-diseases/amelogenesis-imperfecta/.
- Crawford PJM, Aldred M & Bloch-Zupan A. Amelogenesis imperfecta. Orphanet. April, 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88661.
- Naik M & Bansal S.. Diagnosis, Treatment Planning, and Full-mouth Rehabilitation in a Case of Amelogenesis Imperfecta. Contemporary Clinical Dentistry. 2018; 9(1):1-25. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863396/.
- Leung VW, Low B, Yang Y & Botelho MG. Oral Rehabilitation of Young Adult with Amelogenesis Imperfecta. J Contemp Dent Pract. May 1, 2018; 19(5):599-604. https://www.ncbi.nlm.nih.gov/pubmed/29807973.
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