Dentinogenesis imperfecta Shields type 3
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Dentinogenesis imperfecta type III is one of five distinct, hereditary disorders of dentin (the bone-like substance that makes up most of the tooth) development affecting the teeth.[2] This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. 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 III is caused by mutations in the DSPP gene which are inherited in an autosomal dominant fashion.[1] Treatment, which may begin as early as infancy, usually continues into adulthood with a number of options including the use of crowns, over-dentures and dental implants depending on the age of the patient and the condition of the dentition.[3] Individuals with dentinogenesis imperfecta type III appear to be limited, in large measure, to a population in the region around Brandywine in southern Maryland.[2]
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Dentinogenesis imperfecta Shields type 3
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More Detailed Information (Found 6 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer
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General
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Genetics Home Reference (GHR) contains information on Dentinogenesis imperfecta Shields type 3. Click on the link to go to GHR and review the information.
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The National Institute of Dental and Craniofacial Research (NIDCR), purposes to improve oral, dental and craniofacial health through research, research training, and the dissemination of health information. Click on the link to view information on this topic.
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The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Dentinogenesis imperfecta Shields type 3. Click on the link to go to OMIM and review these resources.
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Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
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PubMed is a searchable database of medical literature and lists journal articles that discuss Dentinogenesis imperfecta Shields type 3. Click on the link to view a sample search on this topic.
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Organizations Providing General Support | Social Networking Websites
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Organizations (Found 6 resources)
Groups providing a wide range of services, supportive resources, and information. Disclaimer
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Osteogenesis Imperfecta Foundation
804 W. Diamond Ave, Suite 210 Gaithersburg, MD 20878 Toll-free: 1 (800) 981-2663 Phone: (301) 947-0083 Email: bonelink@oif.org Web: http://www.oif.org/site/PageServer Page on dentinogenesis imperfecta: http://www.oif.org/site/PageServer?pagename=Dental
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Organizations Providing General Support
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Genetic Alliance
4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2369 Telephone: 202-966-5557 Fax: 202-966-8553 E-mail: info@geneticalliance.org Web site: http://www.geneticalliance.org
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National Organization for Rare Disorders (NORD)
55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968 Toll-free: 1-800-999-6673 (voicemail only) Telephone: 203-744-0100 TTY: 203-797-9590 Fax: 203-798-2291 E-mail: orphan@rarediseases.org Web site: http://www.rarediseases.org/
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Social Networking Websites
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DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare. Click on the link to learn from their experiences and/or submit your own story.
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Madisons Foundation
P.O. Box 241956 Los Angeles, CA 90024 Telephone: 310-264-0826 Fax: 310-264-4766 E-mail: getinfo@madisonsfoundation.org Web site: http://www.madisonsfoundation.org/
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.
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Testing | Parent Resources
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Services (Found 3 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer
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Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.
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Testing
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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.
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Parent Resources
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The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
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Scientific Conferences (Found 2 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer
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Past Conferences
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RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
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VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
Location: Palais Rouge Convention Center, Palermo, Buenos Aires Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
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Clinical Trials & Research (Found 3 resources)
Resources where you may find research studies and clinical trials. Disclaimer
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NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
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The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
Link: http://projectreporter.nih.gov/reporter.cfm
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Patient Registry
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ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.
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