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Disease Profile
Celiac disease
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.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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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Other names (AKA)
Celiac sprue; Coeliac disease; Gluten intolerance;
Summary
Celiac disease is an autoimmune disorder that damages the small intestine and inhibits absorption of nutrients. People with celiac disease cannot tolerate gluten, a
Symptoms
Gastrointestinal symptoms of celiac disease may include chronic or recurrent diarrhea; malabsorption; abdominal pain and distention; bloating; vomiting; and weight loss. People with mild to severe gastrointestinal symptoms are usually said to have 'classic celiac disease.'
Non-gastrointestinal symptoms of celiac disease may include dermatitis herpetiformis; chronic fatigue; joint pain/inflammation; iron-deficiency anemia; migraines; depression; attention-deficit disorder;
Some affected people have no symptoms (often identified because of an affected family member or
Diagnosis
You can find information about labs that offer genetic testing for celiac disease through the Genetic Testing Registry (GTR). The intended audience for the GTR is health care providers and researchers. Therefore, people with specific questions about genetic testing for celiac disease should speak with their health care provider or a genetics professional.
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
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Beyond Celiac (NFCA)
PO Box 544
Ambler, PA 19002-0544
Toll-free: 1-844-856-6692
Telephone: (215) 325-1306
Fax: (215) 643-1707
E-mail: [email protected]
Website: https://www.beyondceliac.org/ -
Celiac Disease Foundation
20350 Ventura Blvd Ste 240
Woodland Hills , CA 91364
Telephone: +1-818-716-1513, x 110
Fax: +1-(818) 267-5577
E-mail: https://celiac.org/contact-us/
Website: https://celiac.org/ -
National Celiac Association.
20 Pickering St
Needham, MA 02492
Toll-free: 1-888-4-CELIAC (23-5422)
Telephone: 617-262-5422
E-mail: https://nationalceliac.org/contact/
Website: https://nationalceliac.org/
Organizations Providing General Support
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Global Autoimmune Institute
6819 Elm Street
Suite 10
McLean, VA
Telephone: 703-574-0504
E-mail: [email protected]
Website: https://www.autoimmuneinstitute.org/
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
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Celiac disease. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Digestive Diseases Information Clearinghouse (NIDDK) offers information on this condition. Click on the link to view information on this topic.
- 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
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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 Celiac disease. Click on the link to view a sample search on this topic.
References
- Celiac disease. NDDIC. January 27, 2012; https://digestive.niddk.nih.gov/ddiseases/pubs/celiac/. Accessed 2/3/2014.
- Celiac disease. Genetics Home Reference. October, 2011; https://ghr.nlm.nih.gov/condition/celiac-disease.
- Celiac Disease. MedlinePlus. May 6, 2013; https://www.nlm.nih.gov/medlineplus/celiacdisease.html. Accessed 2/4/2014.
- Taylor AK, Lebwohl B, & Snyder CL. Celiac Disease. GeneReviews. September 17, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1727/. Accessed 10/29/2015.
- Atenodoro R. Ruiz, Jr. Celiac Disease. Merck Manuals. January, 2013; https://www.merckmanuals.com/home/digestive_disorders/malabsorption/celiac_disease.html?qt=celiac%20disease&alt=sh.
- Celiac disease sprue. MedlinePlus. February 21, 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000233.htm.
- Alessio Fasano. Genetics of Celiac Disease. In: Bruce Buehler. Medscape Reference. June 21, 2012; https://emedicine.medscape.com/article/1790189-overview. Accessed 2/4/2014.
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