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Disease Profile

Dentinogenesis imperfecta type 3

Prevalence
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

Childhood

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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Other names (AKA)

Dentinogenesis imperfecta type III; Brandywine type dentinogenesis imperfecta; Dentinogenesis imperfecta Shields type 3 ;

Categories

Congenital and Genetic Diseases; Mouth Diseases

Summary

Dentinogenesis imperfecta type 3 is a rare and severe form of dentinogenesis imperfecta, a condition that affects tooth development. People affected by this condition generally have discolored (most often a blue-gray or yellow-brown color) and translucent teeth. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth. Dentinogenesis imperfecta type 3 is caused by changes (mutations) in the DSPP gene which are inherited in an autosomal dominant manner.[1] Treatment is usually focused on protecting primary (baby) and then permanent teeth with preformed pediatric crowns and other interventions. The replacement of teeth might be considered in the future with dentures and/or implants.[2]

Symptoms

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
Percent of people who have these symptoms is not available through HPO
Anterior open-bite malocclusion
Absence of overlap of anterior upper and lower teeth
Gap between upper and lower front teeth when biting

[ more ]

0009102
Autosomal dominant inheritance
0000006
Dentinogenesis imperfecta
0000703
Periapical bone loss
Dark spot around tooth root on x-ray
0000700
Shell teeth
0000694

Cause

Dentinogenesis imperfecta type 3 is caused by changes (mutations) in the DSPP gene. The DSPP gene provides instructions for making three proteins that are essential for normal tooth development. These proteins are involved in the formation of dentin, which is a bone-like substance that makes up the protective middle layer of each tooth. Mutations in DSPP alter the proteins encoded from the gene, leading to the production of abnormally soft dentin. Teeth with defective dentin are discolored, weak, and more likely to decay and break.[3]

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    Treatment is usually focused on protecting primary (baby) and then permanent teeth with preformed pediatric crowns and other interventions. The replacement of teeth might be considered in the future with dentures and/or implants.[2]

    The following article featured in the Orphanet Journal of Rare Diseases offers more specific details regarding the treatment of dentinogenesis imperfecta. Please click the link to access this resource.

    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

      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

      • Genetics Home Reference (GHR) contains information on Dentinogenesis imperfecta type 3. 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) is a catalog of human genes and genetic disorders. Each entry has 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 Dentinogenesis imperfecta type 3. Click on the link to view a sample search on this topic.

          References

          1. Dentinogenesis imperfecta type 3. Orphanet. September 2012; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166265.
          2. Dentinogenesis Imperfecta Type III. National Organization for Rare Disorders (NORD). 2006; https://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Dentinogenesis%20Imperfecta%20Type%20III. Accessed 2/19/2009.
          3. Dentinogenesis imperfecta. Genetics Home Reference (GHR). November 2009; https://ghr.nlm.nih.gov/condition=dentinogenesisimperfecta. Accessed 9/29/2015.

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