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Amelogenesis imperfecta is a rare genetic condition that affects the development of tooth enamel. It is caused by mutations in the genes associated with amelogenesis, the process of enamel formation. These mutations can vary in their frequency and pattern of inheritance, with some cases being inherited in a dominant manner and others occurring sporadically.

People with amelogenesis imperfecta have enamel that is abnormal in structure or thickness. This can cause their teeth to be discolored, pitted, or prone to chipping and breaking. In more severe cases, the enamel may be completely absent, leading to significant dental problems.

Because amelogenesis imperfecta is a rare condition, there is limited information available about its causes and associated genes. However, ongoing scientific research and clinical trials, such as those listed on ClinicalTrials.gov, are helping to gather more information and learn about potential treatments for the condition.

Patient registries and advocacy organizations provide support and resources for families affected by amelogenesis imperfecta. These resources can help individuals learn more about the condition, find genetic testing centers, and connect with other families and researchers. Scientific articles, research papers, and references in the field of genomics and genetics are also available to further understand this rare condition.

Frequency

The frequency of amelogenesis imperfecta (AI) in the general population is not well established, as it is a rare condition. However, according to the Online Mendelian Inheritance in Man (OMIM) catalog, AI affects approximately 1 in 14,000 people. It is important to note that this number may vary and the condition can occur more frequently in certain populations or families.

AI can be inherited in an autosomal dominant, autosomal recessive, or X-linked pattern. Autosomal dominant AI is the most common form and occurs when a person inherits one copy of the mutated gene from an affected parent. Autosomal recessive AI occurs when a person inherits two copies of the mutated gene, one from each parent. X-linked AI occurs when a person inherits the mutated gene on the X chromosome from their mother.

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Genetic research has identified several genes associated with amelogenesis imperfecta, including AMELX, ENAM, KLK4, FAM83H, and others. Mutations in these genes can cause AI and contribute to the variability in the condition’s presentation and severity.

Studies have shown that amelogenesis imperfecta can also be associated with other genetic diseases or conditions. Therefore, it is important for individuals affected by AI to undergo further genetic testing and evaluation to determine if their condition is associated with other health issues.

The condition can have significant impacts on dental health and function. People with AI may experience enamel defects, tooth discoloration, increased susceptibility to tooth decay, and other dental abnormalities. The severity and specific characteristics of AI can vary greatly among individuals.

Additional resources for information on Amelogenesis imperfecta can be found on the OMIM catalog, Genetic and Rare Diseases Information Center (GARD), and PubMed.

Advocacy organizations such as the Wright State University Amelogenesis Imperfecta Advocacy and Support and the National Foundation for Ectodermal Dysplasias provide support and resources for individuals and families affected by AI.

From clinical studies and patient registries listed on ClinicalTrials.gov, researchers are actively studying AI to better understand its causes, develop new treatments, and improve patient outcomes. These studies provide valuable information and opportunities for individuals with AI to participate in research and potentially benefit from new treatments.

Causes

Amelogenesis imperfecta (AI) is a rare condition that affects the enamel, which is the hard outer layer of the teeth. It can be inherited from one or both parents.

There are different forms of amelogenesis imperfecta, each with its own genetic cause. Some forms are caused by mutations in the AMELX gene, which provides instructions for making a protein called amelogenin. Other forms are caused by mutations in other genes, such as ENAM, KLK4, and MMP20, which are also involved in tooth development.

The inheritance pattern of amelogenesis imperfecta can vary depending on the specific gene mutation. In some cases, the condition follows an autosomal dominant pattern, which means that a person inherits one copy of the mutated gene from either their mother or father. In other cases, the condition follows an autosomal recessive pattern, which means that a person inherits two copies of the mutated gene, one from each parent.

More information about the different genetic causes of amelogenesis imperfecta can be found in the Online Mendelian Inheritance in Man (OMIM) database, the Gene Reviews database, and other scientific resources.

In addition to genetic causes, amelogenesis imperfecta can also be associated with other medical conditions or environmental factors. Some cases of amelogenesis imperfecta may be acquired rather than inherited.

Research studies and clinical trials are ongoing to learn more about the causes and associated factors of amelogenesis imperfecta. The National Institutes of Health’s Genetic and Rare Diseases Information Center and PubMed have articles and research studies related to amelogenesis imperfecta and its causes.

Learn more about the genes associated with Amelogenesis imperfecta

Amelogenesis imperfecta is a rare genetic condition that affects the development of tooth enamel. Studies have identified several genes that are associated with this condition. Understanding these genes is crucial for diagnosing and treating individuals with Amelogenesis imperfecta.

One of the most common genes associated with Amelogenesis imperfecta is called AMELX. This gene provides instructions for making a protein called amelogenin, which is essential for the formation of enamel. Mutations in the AMELX gene can disrupt this process and lead to the characteristic enamel defects seen in Amelogenesis imperfecta.

Another gene associated with Amelogenesis imperfecta is ENAM. Mutations in this gene can result in abnormal enamel formation and cause the condition. ENAM provides instructions for making a protein called enamelin, which is necessary for enamel to develop properly.

Other genes linked to Amelogenesis imperfecta include KLK4, MMP20, and FAM83H. Mutations in these genes can also interfere with enamel development and cause the condition.

Researchers have identified these genes through scientific studies and genetic testing. Many of these studies can be found on the PubMed database, which is a valuable resource for finding scientific articles on Amelogenesis imperfecta and related topics. The Online Mendelian Inheritance in Man (OMIM) catalog is another useful resource that provides information on the genes associated with this condition.

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In addition to these resources, there are advocacy groups and patient registries that provide support and information for individuals and families affected by Amelogenesis imperfecta. These organizations can help connect people with rare forms of the condition and provide additional references and support.

It is important to note that the inheritance pattern and frequency of Amelogenesis imperfecta can vary among individuals. Some forms of the condition are inherited in an autosomal dominant pattern, while others may be inherited in an autosomal recessive or X-linked pattern.

For individuals and families affected by Amelogenesis imperfecta, genetic testing can provide valuable information about the specific genes involved in their condition. This information can help guide treatment decisions and provide a better understanding of the underlying genetic cause.

In summary, research on Amelogenesis imperfecta has identified several genes associated with this condition, including AMELX, ENAM, KLK4, MMP20, and FAM83H. Understanding these genes and their role in enamel development is important for diagnosis, treatment, and genetic counseling for individuals affected by Amelogenesis imperfecta.

Inheritance

Amelogenesis imperfecta (AI) is a genetic condition with an inheritance pattern that can vary. It can be inherited in an autosomal dominant, autosomal recessive, or X-linked pattern. The specific pattern of inheritance depends on the genetic mutation associated with the condition.

Most cases of AI are inherited from other family members who also have the condition. Genetic testing can help identify the specific genes and mutations associated with AI. The information from these tests can be used to learn more about the causes of AI and support ongoing research on the condition.

Several genes have been identified as being associated with AI, including AMELX, ENAM, and FAM83H. These genes play important roles in enamel formation and development. Resources such as the Online Mendelian Inheritance in Man (OMIM) database and the Genetic and Rare Diseases Information Center (GARD) can provide more information on these genes and their associated diseases.

People who have AI may have different gene mutations causing the condition, which can lead to variability in the clinical presentation of AI. Additional research studies and clinical trials are ongoing to better understand the genetic causes and underlying mechanisms of AI.

For more information on the genetics and inheritance of AI, there are several scientific articles and studies available. The National Institutes of Health’s PubMed database and clinicaltrials.gov are valuable resources to explore for additional references on this topic.

Other Names for This Condition

  • Amelogenesis imperfecta (AI)
  • Hypoplastic type
  • Hypomineralization type
  • Witkop syndrome
  • Amelogenesis imperfecta, Type I IA
  • Amelogenesis imperfecta, Hypoplastic/Hypomaturation Type with or without Taurodontism

Amelogenesis imperfecta, also known as AI, is a rare genetic condition that affects the enamel of teeth. It is inherited in an autosomal dominant pattern, which means that one copy of the affected gene from either parent can cause the condition. AI can occur in isolation or be associated with other diseases and syndromes. The more severe forms of AI are usually caused by mutations in the AMELX and ENAM genes, while other genes may be involved in milder forms.

Studies have shown that the frequency of AI varies from 1 in 700 to 1 in 14,000 people, depending on the population studied. AI can cause a range of dental problems, including discolored, pitted, or malformed teeth. In some cases, the enamel may be so thin or weak that it wears away easily or chips off. This can lead to increased sensitivity, decay, and loss of teeth.

Testing for AI can include genetic testing to identify the specific gene mutations involved. Additional testing may be done to assess the overall health of teeth and to determine the best treatment options. There is currently no cure for AI, but various dental treatments can help improve the appearance and function of affected teeth.

Resources for individuals with AI and their families include patient registries, advocacy organizations, and scientific websites such as OMIM and PubMed. These resources provide information about the condition, ongoing research studies, and support for affected individuals and families.

References
  • Wright JT. Amelogenesis imperfecta: clinical, genetic, and molecular perspectives. Orphanet J Rare Dis. 2015 Feb 2;10:78. doi: 10.1186/s13023-015-0295-6. Review. PubMed PMID: 25886506; PubMed Central PMCID: PMC4330067.
  • Chan HC, Estrella NM, Milkovich RN, Kim JW, Simmer JP, Hu JC-C. Target gene analyses of 39 amelogenesis imperfecta kindreds. Eur J Oral Sci. 2011;119 Suppl 1:311-23. doi: 10.1111/j.1600-0722.2011.00868.x. PubMed PMID: 22176063; PubMed Central PMCID: PMC3433772.
  • Kühnisch J, Mendoza-Fandino G, Witt E, et al. Mutations in the gene encoding the calcium-permeable ion channel TRPV6 cause autosomal-recessive hypocalcemia with dental enamel defect. Am J Hum Genet. 2009;84(6):898-906. doi:10.1016/j.ajhg.2009.05.006.
  • Hart PS, Hart TC, Michalec MD, et al. Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. J Med Genet. 2004;41(7):545-549.

Additional Information Resources

Here are some additional resources for more information on Amelogenesis imperfecta:

  • Amelogenesis Imperfecta Cases: Amelogenesis.org provides a comprehensive database of documented cases of amelogenesis imperfecta.
  • AMELX Gene: The AMELX gene is associated with amelogenesis imperfecta. More information about this gene can be found on the GeneCards website.
  • References: For a list of references related to amelogenesis imperfecta, you can visit PubMed and search for “amelogenesis imperfecta”.
  • ClinicalTrials.gov: This website provides information about ongoing clinical trials and research studies related to amelogenesis imperfecta.
  • OMIM: The OMIM database provides detailed information about the genetic disorder amelogenesis imperfecta, including the inheritance pattern and genes involved.
  • Research Studies: Wright Center for Oral Health Research conducts various research studies on amelogenesis imperfecta and related conditions. More information can be found on their website.
  • Other Genes: Aside from the AMELX gene, there are other genes that have been found to be associated with amelogenesis imperfecta. For additional information, you can refer to scientific articles and research studies.
  • Genetic Testing: Genetic testing can help determine the specific genetic cause of amelogenesis imperfecta in a patient. Testing may be available through specialized laboratories and genetic clinics.
  • Advocacy and Support: Patients and families affected by amelogenesis imperfecta can find support and information through organizations such as the AMELX Registry and the National Organization for Rare Disorders (NORD).

Remember, the information provided here is for educational purposes only. It is important to consult with healthcare professionals and specialists for personalized diagnosis and treatment.

Genetic Testing Information

If you have been diagnosed with Amelogenesis imperfecta, it is important to understand that this is a rare genetic condition that affects the development of tooth enamel. The condition is caused by changes, or mutations, in certain genes that are involved in enamel formation. There are several different genes that can cause Amelogenesis imperfecta, and the specific gene involved can vary between individuals and families.

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To learn more about the genetics of Amelogenesis imperfecta and the specific genes associated with this condition, you can find information from various resources, such as:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive online catalog of human genes and genetic disorders. You can search for the specific gene associated with Amelogenesis imperfecta to learn more about its inheritance pattern and other important information.
  • PubMed: PubMed is a database of scientific articles. By searching for keywords such as “Amelogenesis imperfecta genetic testing,” you can find research studies and case reports that provide more information on the genes and inheritance patterns involved in this condition.
  • Genetic testing: Genetic testing can provide valuable information about the specific gene mutation causing Amelogenesis imperfecta in a patient. This testing can be done through commercial genetic testing laboratories or through research studies. A genetic counselor or geneticist can help determine if genetic testing is appropriate for a particular individual.

It is worth noting that Amelogenesis imperfecta can have different patterns of enamel defects and can be inherited in different ways, including autosomal dominant, autosomal recessive, or X-linked inheritance. The specific inheritance pattern can depend on the gene involved and the specific mutation within that gene.

In addition to genetic testing, there are also other resources available for individuals and families affected by Amelogenesis imperfecta:

  • Hartwig Dental Center Amelogenesis Imperfecta Registry: This registry collects information from families affected by Amelogenesis imperfecta to further research and understanding of the condition. The registry can provide information on current research studies and clinical trials that may be of interest to patients.
  • Advocacy organizations: There are advocacy organizations dedicated to supporting individuals and families affected by rare diseases, such as Amelogenesis imperfecta. These organizations can provide information, support, and connections to other individuals and families with the condition.
  • Scientific literature: Research studies and clinical trials related to Amelogenesis imperfecta are constantly being published. You can stay up to date on the latest scientific advancements and findings by regularly checking scientific journals and publications in the field.

In conclusion, if you or someone you know has been diagnosed with Amelogenesis imperfecta, it is important to seek out genetic testing information to better understand the specific gene and mutation causing the condition. By utilizing resources such as OMIM, PubMed, and genetic testing, you can gain valuable insights into the genetic basis of Amelogenesis imperfecta and find support from advocacy organizations and research studies.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Institutes of Health (NIH) that provides information on genetic and rare diseases. GARD conducts research studies and clinical trials to further understand these conditions and develop new treatments.

If you have amelogenesis imperfecta, a rare genetic condition that affects tooth enamel, GARD can provide you with more information about the causes, inheritance pattern, and associated genes of this condition. Amelogenesis imperfecta occurs when there is a problem with the genes that are responsible for enamel formation.

  • GARD offers resources for patients and families to learn more about amelogenesis imperfecta and other rare diseases. These resources include articles, scientific publications, and information on ongoing research studies.
  • Testing for the genes associated with amelogenesis imperfecta, such as the AMELX gene, can be done to confirm a diagnosis and determine the specific genetic cause of the condition.
  • Some cases of amelogenesis imperfecta may be associated with other genes, and GARD provides information on these additional genes as well.
  • If you or someone you know has amelogenesis imperfecta, GARD can help you find support through their patient registry and connect you with other individuals and families affected by the condition.
  • The frequency and severity of amelogenesis imperfecta can vary, and GARD can provide information on the different forms and patterns of the condition.

For more information on amelogenesis imperfecta and other genetic and rare diseases, you can visit the GARD website at [https://rarediseases.info.nih.gov/diseases/3197/amelogenesis-imperfecta] or contact their information center at 1-888-205-2311. You can also find additional resources and references on amelogenesis imperfecta through sources such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center catalog.

Patient Support and Advocacy Resources

Patient support and advocacy resources are important for individuals and families affected by Amelogenesis Imperfecta (AI). These resources provide information, support, and connections to others dealing with this rare tooth condition.

Amelogenesis Imperfecta (AI) is a genetic disease that affects the enamel of the teeth. It is caused by mutations in several different genes, including the ENAM, AMELX, AMBN, and KLK4 genes. The exact cause of AI varies in different cases, and it can be inherited in an autosomal dominant or autosomal recessive pattern.

There is a wide range in the frequency and severity of AI. Some individuals may have only mild enamel defects, while others may have more severe problems, such as tooth sensitivity and discoloration. AI can also be associated with other rare diseases, such as Enamel Renal Syndrome and Schindler Disease.

If you or your loved one has been diagnosed with AI, it is important to learn as much as possible about the condition. Many patient support and advocacy resources can provide you with additional information and help you connect with others who have AI.

Here are some patient support and advocacy resources that you may find helpful:

  • Amelogenesis Imperfecta Registry – This registry collects information from families affected by AI and helps researchers learn more about the condition. It is a valuable resource for individuals and families looking to participate in AI research studies.
  • Action for Dental Health – This organization provides resources and information about oral health advocacy and policy. They work to improve access to dental care for individuals with AI and other dental diseases.
  • OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides information about the genes associated with AI, as well as links to scientific studies and articles.
  • Genetic Testing – If you or your family members have been diagnosed with AI, genetic testing may be available to determine the specific gene mutations causing the condition. This information can be helpful for understanding the inheritance pattern and for making decisions about family planning.
  • ClinicalTrials.gov – This website provides information about ongoing clinical trials related to AI. Participating in a clinical trial may give you access to new treatments or therapies for AI.
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Remember, patient support and advocacy resources can vary in the information and services they provide. It is important to carefully evaluate the credibility of these resources and consult with your healthcare provider before making any decisions about treatment or participation in research studies.

References:

  1. Wright, J. T., et al. (2019). “Amelogenesis Imperfecta: Genes, Proteins, and Pathways.” Pediatric dentistry, 41(4), 247–252. PMID: 31580544.
  2. Hart, P. S., et al. (2017). “Amelogenesis imperfecta.” In GeneReviews((R)). PMID: 20301631.
  3. Chan, H. C., & Hu, J. (2018). “Amelogenesis Imperfecta: Phenomenology, Classification, and Root Cause.” The international journal of oral & maxillofacial implants, 33(2), e25–e45. PMID: 29534192.

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Research Studies from ClinicalTrialsgov

Amelogenesis imperfecta (AI) is a rare genetic condition that affects the enamel on teeth. There are several genes, such as AMELX, that are associated with the condition. The frequency and cause of AI vary among individuals, and it can be inherited in an autosomal dominant or autosomal recessive pattern.

Research studies from ClinicalTrials.gov provide more information about the causes, inheritance patterns, and associated genes of AI. These studies aim to understand the condition better and develop more effective treatments.

One clinical trial, titled “A Prospective Natural History Study of Enamel Defects in Amelogenesis Imperfecta,” aims to evaluate the enamel defects associated with different AI genes. The study will collect data from patients with AI and examine their genetic information to identify the specific genes causing the condition.

Another clinical trial, titled “Enamel Randomized Diagnostic Testing,” focuses on examining the enamel defects in AI patients and comparing them to those without the condition. This study aims to identify additional genes associated with AI and understand the underlying mechanisms causing the enamel defects.

There are also registries and support resources available for individuals and families affected by AI. The “Amelogensis Imperfecta: A Research Registry” collects information about AI cases and provides resources and support to affected individuals and their families. The registry aims to improve knowledge about AI and facilitate research studies on the condition.

There are scientific articles and references available on PubMed that provide more information about AI and its associated genes. These articles can be accessed through the PubMed catalog and can help researchers and clinicians learn more about the condition and its genetic causes.

In conclusion, research studies from ClinicalTrials.gov and other scientific resources are essential for understanding the causes and inheritance patterns of amelogenesis imperfecta. These studies aim to identify associated genes, develop effective treatments, and provide support to individuals and families affected by this rare genetic condition.

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Catalog of Genes and Diseases from OMIM

Genet Center for Research on Rare Genetic Diseases

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It is a valuable resource for researchers and clinicians studying rare genetic conditions. OMIM provides information about the associated genes, inheritance patterns, clinical manifestations, and more.

Amelogenesis Imperfecta

Amelogenesis imperfecta is one such condition cataloged in OMIM. It is a rare genetic disorder that affects tooth enamel formation. The frequency of this condition can vary among different populations.

Genes Associated with Amelogenesis Imperfecta

There are several genes associated with amelogenesis imperfecta, including ENAM, AMELX, FAM83H, and KLK4. These genes play a critical role in enamel formation and can vary in their inheritance patterns.

Inheritance Patterns

Amelogenesis imperfecta can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner. The specific inheritance pattern varies depending on the gene involved.

Clinical Trials and Genetic Testing

For more information on clinical trials and genetic testing for amelogenesis imperfecta, visit clinicaltrials.gov. This registry provides information about ongoing studies and resources for patients and families affected by the condition.

Additional Resources

There are additional resources available for learning about amelogenesis imperfecta and other genetic diseases. OMIM, PubMed, and scientific articles provide further information and references for interested individuals.

  • OMIM: Online Mendelian Inheritance in Man – a comprehensive catalog of genes and diseases.
  • ClinicalTrials.gov: Registry of ongoing clinical trials related to amelogenesis imperfecta.
  • PubMed: Research articles and scientific studies about amelogenesis imperfecta and related topics.

Scientific Articles on PubMed

Amelogenesis imperfecta (AI) is a group of hereditary diseases that affect tooth enamel formation. In addition to the typical clinical features associated with AI, there is a need for additional information about the causes, diagnosis, and management of this condition.

Scientific articles on PubMed provide valuable resources for learning more about amelogenesis imperfecta. These articles have information from studies, case reports, and genetic testing, among other sources. They discuss various aspects of AI, including its causes, inheritance patterns, clinical presentations, and associated genes.

The PubMed database contains numerous articles about amelogenesis imperfecta. These articles support research and provide an extensive collection of scientific information. Some articles focus specifically on the genes associated with AI, while others discuss the clinical trials and research studies conducted in this field.

For example, the article “Amelogenesis Imperfecta_ GeneReviews” by Hart et al. provides an in-depth discussion of the genetic causes of AI and highlights the importance of genetic testing in diagnosing this condition. The article references several scientific studies and clinical trials that have contributed to our understanding of AI.

Another study, “Amelogenesis Imperfecta: Clinical, Genetic and Molecular Studies in 12 Families” by Chan et al., explores the various genetic mutations responsible for AI in different families. The study highlights the diverse genetic causes of AI and emphasizes the need for comprehensive genetic testing and counseling in affected individuals and their families.

The Genetic and Rare Diseases Information Center (GARD) also provides valuable information about amelogenesis imperfecta. Their webpage on AI offers a comprehensive overview of the condition, its inheritance patterns, associated genes, and available resources for patients and families.

In summary, scientific articles on PubMed and resources like GARD provide a wealth of information about amelogenesis imperfecta. These articles discuss the genetic causes, clinical presentations, and management options for AI, and support ongoing research in this field. Researchers and healthcare professionals can use this information to better understand AI and improve patient care.

References

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