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Disease Profile

Urachal cyst

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.

Unknown

Age of onset

-

ICD-10

Q64.4

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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Categories

Congenital and Genetic Diseases

Summary

A urachal cyst is a sac-like pocket of tissue that develops in the urachus, a primitive structure that connects the umbilical cord to the bladder in the developing baby. Although it normally disappears prior to birth, part of the urachus may remain in some people. Urachal cysts can develop at any age, but typically affect older children and adults. Urachal cysts are often not associated with any signs or symptoms unless there are complications such as infection. In these cases, symptoms may include abdominal pain, fever, pain with urination and/or hematuria. Urachal cysts may be monitored, or they may be treated with surgery to drain the cyst and/or remove the urachus.[1][2][3]

Symptoms

In most cases, urachal cysts are not associated with any signs or symptoms unless there are complications such as infection. Possible symptoms vary, but may include:[1][4]

  • Lower abdominal pain
  • Fever
  • Abdominal lump or mass
  • Pain with urination
  • Urinary tract infection
  • Hematuria

In some cases, there is also an open connection between the bladder and the umbilicus (belly button), which is called a urachal sinus. This may cause drainage of urine from the belly button.[5]

Cause

A urachal cyst occurs when a pocket of air or fluid develops in the urachus. Before birth, the urachus is a primitive structure that connects the umbilical cord to the bladder in the developing baby. The urachus normally disappears before birth, but part of the urachus may remain in some people after they are born. This can lead to urachal abnormalities such as urachal cysts.[1][6]

Diagnosis

The diagnosis of a urachal cyst may be suspected based on the presence of characteristic signs and symptoms. The following tests may then be ordered to confirm the diagnosis:[4][6]

Treatment

Treatment of a urachal cyst may depend on whether or not the person is experiencing any symptoms. Sometimes these cysts are not treated but are monitored, particularly if there are no symptoms. In some cases, the urachal abnormalities resolve on their own without treatment. Because there is a small risk that a urachal cyst may become cancerous, surgery may be performed to completely remove the urachus. You can talk to your doctor about the risk of the urachal cyst causing infection or developing into cancer and balancing that with the risks associated with surgical removal.[1][4][6][3]

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

    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 Urology Care Foundation offers an information page on Urachal cyst. Please click on the link to access this resource.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • 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.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Urachal cyst. Click on the link to view a sample search on this topic.

        References

        1. Urachal Abnormalities. Urology Care Foundation. https://www.urologyhealth.org/urology/index.cfm?article=41. Accessed 4/11/2017.
        2. Ashley RA, Inman BA, Routh JC, Rohlinger AL, Husmann DA, Kramer SA. Urachal anomalies: a longitudinal study of urachal remnants in children and adults. Journal of Urology. 2007; 178:1615-1618. https://www.ncbi.nlm.nih.gov/pubmed/17707039. Accessed 10/13/2014.
        3. Naiditch JA, Radhakrishnan J, Chin AC.. Current diagnosis and management of urachal remnants. J Pediatr Surg. October 2013; 48(10):2148-52. https://www.ncbi.nlm.nih.gov/pubmed/?term=24094971.
        4. Bagnara V, Antoci S, Bonforte S, Privitera G, Luca T, Castorina S. Clinical considerations, management and treatment of fever of unknown origin caused by urachal cyst: a case report. J Med Case Rep. March 2014; 8:106. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978086.
        5. Urachal cysts. American Pediatric Surgical Association. November, 2016; https://www.eapsa.org/parents/conditions/p-z/urachal-cysts/.
        6. Robert K Minkes, MD, PhD. Disorders of the Umbilicus. Medscape Reference. October 2014; https://emedicine.medscape.com/article/935618-overview#a0104.

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