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Disease Profile
Agenesis of the dorsal pancreas
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
Infancy
ICD-10
Q45.0
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.
Not applicable
Other names (AKA)
Pancreas, dorsal, agenesis of; Pancreas agenesis, dorsal; Complete agenesis of the dorsal pancreas;
Categories
Congenital and Genetic Diseases; Digestive Diseases
Summary
Agenesis of the dorsal pancreas describes a
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.
Cause
There have been reports in the literature of the condition being associated (rarely) with other
Treatment
For pancreatitis, individuals may be able to make themselves more comfortable during an attack, but they will most likely continue to have attacks until treatment is received for the underlying cause of the symptoms (when possible). If symptoms are mild, people might try the following preventive measures: stopping all alcohol consumption; adopting a liquid diet consisting of foods such as broth, gelatin, and soups (these simple foods may allow the inflammation process to get better); over-the-counter pain medications; and avoiding pain medications that can affect the liver (such as acetaminophen). Medical treatment is usually focused on relieving symptoms and preventing further aggravation to the pancreas. Certain complications of either acute pancreatitis or chronic pancreatitis may require surgery or a
Hyperglycemia (high blood sugar) management may depend on the exact cause if the condition in the affected individual. Management may include checking blood sugar levels with a blood glucose meter; checking urine for ketones; and adopting strategies to lower blood sugar level. Strategies might include exercise (only if urine ketones are not present); diet as discussed with a diabetes health educator or registered
Individuals seeking treatment options for themselves or others should speak with their health care provider about an individualized treatment plan; the information here is provided for general educational purposes only.
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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National Pancreas Foundation
3 Bethesda Metro Center, Suite 700
Bethesda, MD 20814
Toll-free: 1-866-726-2737
Telephone: +1-301-961-1508
E-mail: info@pancreasfoundation.org
Website: https://pancreasfoundation.org/ -
The Pancreatitis Supporters Network
Flat 15 Mayfield Court
Off Mayfield Road
Moseley, Birmingham
West Midlands B13 9HS
United Kingdom
E-mail: PSN@pancreatitis.org.uk
Website: https://www.pancreatitis.org.uk/
Organizations Providing General Support
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American Diabetes Association
2451 Crystal Drive
Suite 900
Arlington, VA 22202
Toll-free: 1–800–DIABETES (342–2383)
Fax: 703–549–6995
E-mail: AskADA@diabetes.org
Website: https://www.diabetes.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
- The Human Embryology: Organogenesis online text book provides a detailed description and illustrations of pancreas development. Click on the link above to view this description.
- The United Network for Organ Sharing Web site provides information on the pancreas in general. Click on the link above to view the information page.
- The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) conducts and supports research on many of the most serious diseases affecting public health. Click on the link for more information on pancreatitis.
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 Agenesis of the dorsal pancreas. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Pasaoglu L, Vural M, Hatipoglu HG, Tereklioglu G, Koparal S. Agenesis of the dorsal pancreas. World J Gastroenterol. 2008 May 14;14(18):2915-6.
- Joo YE, Kang HC, Kim HS, Choi SK, Rew JS, Chung MY, Kim SJ. Agenesis of the dorsal pancreas: a case report and review of the literature. Korean J Intern Med. 2006 Dec;21(4):236-9.
- Schnedl WJ, Piswanger-Soelkner C, Wallner SJ, Krause R, Lipp RW. Agenesis of the dorsal pancreas. World J Gastroenterol. 2009 Jan 21;15(3):376-7.
- Pokorney M, Deutsch JC, Wise J. Agenesis of Dorsal Pancreas. Visible Human Journal of Endoscopy. University of Colorado. 2007.
References
- Whitcomb DC, Lowe ME. Hereditary, Familial, and Genetic Disorders of the Pancreas and Pancreatic Disorders in Childhood. In: Feldman. Sleisenger and Fordtran's Gastrointestinal and Liver Disease, 9th ed. Philadelphia, PA: Saunders; 2010;
- Schnedl WJ, Piswanger-Soelkner C, Wallner SJ, Reittner P, Krause R, Lipp RW, Hohmeier HE. Agenesis of the dorsal pancreas and associated diseases. Dig Dis Sci. 2009 Mar;
- Wolfgang J Schnedl, Claudia Piswanger-Soelkner, Sandra J Wallner, Robert Krause, Rainer W Lipp. Agenesis of the dorsal pancreas. World Journal of Gastroenterology. January 2009; 15(3):376-377. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2653338/pdf/WJG-15-376.pdf. Accessed 7/22/2011.
- Joanna S. Amberger . Pancreas, Dorsal, Agenesis of. OMIM. May 10, 2011; https://omim.org/entry/167755. Accessed 7/22/2011.
- Joo YE, Kang HC, Kim HS, Choi SK, Rew JS, Chung MY, Kim SJ. Agenesis of the dorsal pancreas: a case report and review of the literature. Korean J Intern Med. December 2006; 21(4):236-239. https://www.kjim.or.kr/upload/abstract/files/062104236.pdf. Accessed 7/22/2011.
- Suraj Kapa, Ferga C Gleeson, Santhi Swaroop Vege. Dorsal Pancreas Agenesis and Polysplenia/Heterotaxy Syndrome: A Novel Association with Aortic Coarctation and a Review of the Literature. JOP. J Pancreas (Online). 2007; 8(4):433-437. https://www.joplink.net/prev/200707/200707_02.pdf. Accessed 7/22/2011.
- Pancreatitis. eMedicineHealth. 2011; https://www.emedicinehealth.com/pancreatitis/page6_em.htm. Accessed 7/22/2011.
- Robert Ferry, Jr. High Blood Sugar (Hyperglycemia). eMedicineHealth. 2011; https://www.emedicinehealth.com/high_blood_sugar_hyperglycemia/article_em.htm. Accessed 7/25/2011.
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