National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Dentinogenesis imperfecta type 2



Other Names:
DGI-2; Dentinogenesis imperfecta, Shields type 2; DI-2; DGI-2; Dentinogenesis imperfecta, Shields type 2; DI-2; Capdepont teeth See More
Categories:
This disease is grouped under:

Dentinogenesis imperfecta type 2 is a rare and severe form of dentinogenesis imperfecta, a condition that affects tooth development. People affected by the condition may have weak and discolored teeth. These problems can affect both primary (baby) teeth and permanent teeth. People with this form of dentinogenesis imperfecta have no normal teeth. Sensorineural hearing loss has also been found in some affected people. Dentinogenesis imperfecta type 2 is caused by changes (mutations) in the DSPP gene and is inherited in an autosomal dominant manner. 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.[1]
Last updated: 10/30/2015

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include conditions that may have similar clinical or radiographic features to DGI such as osteogenesis imperfecta and dentin dysplasia (see this term). The clinical symptoms may be mistaken for hypocalcified amelogenesis imperfecta, congenital erythropoietic porphyria, conditions leading to early tooth loss (Kostmann syndrome, cyclic neutropenia, Chediak-Hegashi syndrome, Langerhans cell histiocytosis, Papillon-Lefèvre syndrome), vitamin D-resistant rickets (see these terms), as well as permanent teeth discoloration due to tetracyclines, and vitamin D-dependent rickets. It is important to investigate for a history of bone fractures with minimal trauma, hearing loss and to check for blue sclerae to rule out osteogenesis imperfecta (see this term).
Visit the Orphanet disease page for more information.

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 2. 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 type 2. Click on the link to view a sample search on this topic.

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  1. Dentinogenesis imperfecta type 2. Orphanet. September 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166260.