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Disease Profile

Agenesis of the dorsal pancreas

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 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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

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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.

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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)

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 congenital malformation of the pancreas in which either the entire dorsal pancreas or part of the dorsal pancreas fails to develop (complete agenesis or partial agenesis, respectively). Some individuals experience no symptoms, while others may develop hyperglycemia, diabetes mellitus, bile duct obstruction, abdominal pain, pancreatitis, or other conditions.[1][2][3] Hyperglycemia has been shown to be present in approximately 50% of affected individuals.[3] The cause of agenesis of the dorsal pancreas is currently not well understood. It may occur in individuals with no history of the condition in the family (sporadically) and in some cases, autosomal dominant or X-linked dominant inheritance has been suggested.[4][5] It has also been reported to occur with very rare conditions including polysplenia and polysplenia/heterotaxy syndrome.[6]

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
Percent of people who have these symptoms is not available through HPO
Abnormality of the pancreas
0001732
Autosomal dominant inheritance
0000006
Diabetes mellitus
0000819

Cause

Partial or complete agenesis of the dorsal pancreas results from the failure of the dorsal pancreatic bud to form the body and tail of the pancreas in the developing fetus.[5] It may occur from the absence, or regression of, the dorsal bud during fetal development. Heredity may play a role in the development of this condition, but further research is needed to clarify this.[5]

There have been reports in the literature of the condition being associated (rarely) with other congenital diseases, specifically a very rare disorder called polysplenia/heterotaxy syndrome. In this case, it may occur due to errors in development of the asymmetric organs and may be associated with benign to severe congenital cardiac (heart) malformations.[6]

Treatment

Because agenesis of the dorsal pancreas is considered rare and few cases have been reported in the literature, there is limited information about how the condition as a whole might be treated or managed. However, there is current information about how some of the signs and symptoms associated with agenesis of the dorsal pancreas (such as pancreatitis) may be managed.

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 blood transfusion. In acute pancreatitis, the choice of treatment is based on the severity of the attack. Most people who are having an attack of acute pancreatitis are admitted to the hospital for oxygen (if having trouble breathing) and an intravenous (IV) line for medications and fluids. If needed, medications for pain and nausea may be prescribed. It may be recommended that no food or liquid is taken by mouth for a few days (this is called bowel rest). Some people may need a nasogastric (NG) tube to remove stomach juices which rests the intestine further, helping the pancreas recover. If the attack lasts longer than a few days, nutritional supplements may be administered through an IV line. In chronic pancreatitis, treatment focuses on relieving pain and avoiding further aggravation to the pancreas.[7]

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 dietitian; and/or medication (especially if diet and exercise are not keeping blood sugar levels in the normal range) which may include insulin and/or other medications.[8]

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

    Organizations Providing General Support

      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

        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

            References

            1. 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;
            2. 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;
            3. 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.
            4. Joanna S. Amberger . Pancreas, Dorsal, Agenesis of. OMIM. May 10, 2011; https://omim.org/entry/167755. Accessed 7/22/2011.
            5. 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.
            6. 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.
            7. Pancreatitis. eMedicineHealth. 2011; https://www.emedicinehealth.com/pancreatitis/page6_em.htm. Accessed 7/22/2011.
            8. 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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