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Disease Profile

Dentinogenesis imperfecta

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.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

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 without osteogenesis imperfecta; Capdepont teeth

Categories

Congenital and Genetic Diseases; Mouth Diseases

Summary

Dentinogenesis imperfecta is a condition characterized by teeth that are translucent and discolored (most often blue-grey or yellow-brown in color). Individuals with this disorder tend to have teeth that are weaker than normal, which leads to wear, breakage, and loss of teeth. This damage can include teeth fractures or small holes (pitting) in the enamel. Dentinogenesis imperfecta can affect both primary (baby) teeth and permanent teeth. People with this condition may also have speech problems or teeth that are not placed correctly in the mouth.[1] Dentinogenesis imperfecta is caused by mutations in the DSPP gene and is inherited in an autosomal dominant manner.[2]

According to the original classification, there are three types of dentinogenesis imperfecta:

Type I: occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle, causing them to break easily. People with this type of dentinogenesis imperfecta have mutations in COL1A1 or COL1A2.[2]

Type II: usually occurs in people without another inherited disorder. Some families with type II also have progressive hearing loss in older age. Type II is the most common type of dentinogenesis imperfecta.[2]

Type III: usually occurs in people without another inherited disorder. Type III was first identified in a group of families in southern Maryland and has also been seen in individuals of Ashkenazi Jewish descent.[3]

Some researchers believe that dentinogenesis imperfecta type II and type III, along with a similar condition called dentin dysplasia type II, are actually just different forms of a single disorder.[4] 

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
80%-99% of people have these symptoms
Obliteration of the pulp chamber
0006350
30%-79% of people have these symptoms
Fragile teeth
0025124
Generalized hypoplasia of dental enamel
0006282
Grayish enamel
Gray colored tooth enamel
Greyish enamel

[ more ]

0000683
Hypocalcification of dental enamel
Decreased enamel calcification
Poorly calcified tooth enamel

[ more ]

0011084
Shell teeth
0000694
Yellow-brown discoloration of the teeth
Yellow-brown discolored teeth
0006286
5%-29% of people have these symptoms
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

0000978
Finger joint hypermobility
Increased mobility in finger joint
0006094
Hyperextensibility at elbow
0010485
Knee joint hypermobility
Knee joint over-flexibility
0045086
Persistence of primary teeth
Delayed loss of baby teeth
Failure to lose baby teeth
Retained baby teeth

[ more ]

0006335
Selective tooth agenesis
0001592
Short dental roots
Decreased length of dental roots
Decreased length of tooth roots
Short tooth roots
Underdeveloped dental roots

[ more ]

0006336
1%-4% of people have these symptoms
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Prolonged bleeding time
0003010

Cause

Mutations in the DSPP gene cause dentinogenesis imperfecta. 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 change the proteins made 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. It is unclear how DSPP mutations are related to hearing loss in some families with dentinogenesis imperfecta type II.[2]

Diagnosis

Dentinogenesis imperfecta is diagnosed by a clinical exam that is consistent with signs of the condition. A dental X-ray is specifically helpful in diagnosing dentinogenesis imperfecta.[3] The specific signs found in a clinical exam may differ depending on the type of dentinogenesis imperfecta:

Type I: people who have type I dentinogenesis imperfecta also have osteogenesis imperfecta. This will cause them to have other health concerns, so they will typically not be diagnosed by dental X-ray.[5]

Type II: people who have type II dentinogenesis imperfecta will be expected to show signs such as amber or multicolored (opalescent) dentin, short roots, and missing pulp chambers of the teeth. The pulp chamber is the innermost layer of the tooth.[5]

Type III: people who have type III dentinogenesis imperfecta will be expected to show signs such as multicolored (opalescent) primary and permanent teeth and large pulp chambers.[5] 

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

    The aims of treatment for dentinogenesis imperfecta are to remove sources of infection or pain, restore aesthetics, and protect teeth from wear. Treatment varies according to the age of the patient, severity of the problem, and presenting complaint. Treatment options include amalgams as dental fillings, veneers to fix the discoloration of teeth, crowns, caps, and bridges.[6] Dentures or dental implants may be necessary if the majority of teeth are lost.[3] Some dentists may also recommend resin restorations and teeth bleaching.[7]

    More detailed information regarding the treatment of dentinogenesis imperfecta can be found by visiting the following web links:
    https://www.dentistry.unc.edu/dentalprofessionals/resources/defects/di/
    https://www.ojrd.com/content/3/1/31

    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 . This website is maintained by the National Library of Medicine.

        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.
        • 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 . Click on the link to view a sample search on this topic.

          References

          1. Ubaldini AL, Giorgi MC, Carvalho AB, Pascon FM, Lima DA, Baron GM, Paulillo LA, Aguiar FH. Adhesive Restorations as an Esthetic Solution to Dentinogenesis Imperfecta. Journal of Dentistry for Children. September-December 2015; 82(3):171-175. https://www.ncbi.nlm.nih.gov/pubmed/26731255.
          2. Dentinogenesis imperfecta. Genetics Home Reference (GHR). November 2009; https://ghr.nlm.nih.gov/condition=dentinogenesisimperfecta. Accessed 9/29/2015.
          3. 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.
          4. de la Dure-Molla M, Philippe Fournier B, and Berdel A. Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification. European Journal of Human Genetics. April 2015; 23(4):445-451. https://www.ncbi.nlm.nih.gov/pubmed/25118030.
          5. Bloch-Zupan A. Dentinogenesis imperfecta. Orphanet. September 2012; https://www.orpha.net//consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=49042.
          6. Rafeek RN, Paryag A, Al-Bayaty H. Management of dentinogenesis imperfecta: a review of two case reports. General Dentistry. May-June 2013; 61(3):72-76. https://www.ncbi.nlm.nih.gov/pubmed/23649579.
          7. Bidra AS and Uribe F. Successful bleaching of teeth with dentinogenesis imperfecta discoloration: a case report. Journal of Esthetic and Restorative Dentistry. February 2011; 23(1):3-10. https://www.ncbi.nlm.nih.gov/pubmed/21323831.

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