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Disease Profile

Gilbert syndrome

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.

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US Estimated

Europe Estimated

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.

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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)

Gilbert's disease; Hyperbilirubinemia Arias type; Hyperbilirubinemia type 1;

Categories

Metabolic disorders

Summary

Gilbert syndrome is a mild liver disorder that impairs the body's ability to process bilirubin, a substance made when old red blood cells are broken down. This leads to fluctuating levels of bilirubin in the blood, sometimes causing levels to be high (hyperbilirubinemia).[1] Most people with Gilbert syndrome do not have symptoms or have mild jaundice. In some cases, jaundice is triggered or made worse by stress, exercise, fasting, dehydration, drinking alcohol, or illness.[1][2] Some people with Gilbert syndrome have reported other symptoms such as fatigue, weakness, nausea, or diarrhea. There has not been evidence these other symptoms are caused by hypebilirubinemia, and the cause of these symptoms currently is unclear.[1] People with Gilbert syndrome may also have more side effects from certain drugs such as irinotecan.[3]

Gilbert syndrome is caused by mutations in the UGT1A1 gene and inheritance is autosomal recessive.[1][2] Mutations in this gene cause reduced levels of a liver enzyme needed to eliminate bilirubin from the body, causing bilirubin to accumulate. People with Gilbert syndrome have about one third of the normal enzyme activity, which usually is enough to prevent symptoms from developing. Treatment for Gilbert syndrome is usually not needed because in most cases it does not cause symptoms. People with Gilbert syndrome have a normal life expectancy.[1]

Of note, mutations in the UGT1A1 gene can alternatively cause other disorders, such as Crigler-Najjar syndrome. There are two forms: Crigler-Najjar syndrome type 1 (CN-1) and Crigler-Najjar syndrome type 2 (CN-2). In both types, jaundice is persistent and more severe than in Gilbert syndrome, with CN-1 causing potentially life-threatening symptoms.[1][4][5] Sometimes it can be hard to distinguish between Gilbert syndrome and CN-2 because of considerable overlap in measured bilirubin levels. Genetic testing to identify the specific mutation present is sometimes needed for the correct diagnosis.[2]

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
Autosomal recessive inheritance
0000007
Dehydration
0001944
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

0000952
Unconjugated hyperbilirubinemia
0008282

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • 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.

    Treatment

    Gilbert syndrome generally doesn't require treatment. The bilirubin levels in the blood may fluctuate over time, causing episodes of jaundice. However, the jaundice is usually mild and goes away on its own. In some cases, doctors may prescribe phenobarbital to lower extremely elevated bilirubin levels and reduce signs of jaundice. Phenobarbital administration usually alleviates signs of jaundice fairly quickly.[7][6]

    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

        • MayoClinic.com has an information page on Gilbert syndrome. Click on the link to view this page.
        • 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 Gilbert syndrome. This website is maintained by the National Library of Medicine.
        • 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

          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • 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 Gilbert syndrome. Click on the link to view a sample search on this topic.

            References

            1. Gilbert Syndrome. National Organization for Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/gilbert-syndrome/.
            2. Wagner K-H, Shiels RG, Lang CA, Khoei NS, Bulmer AC. Diagnostic criteria and contributors to Gilbert’s syndrome. Critical Reviews in Clinical Laboratory Sciences. 2018; 55(2):129-139. https://www.ncbi.nlm.nih.gov/pubmed/29390925.
            3. Roy-Chowdhury J, Roy-Chowdhury N & Wang X. Gilbert syndrome and unconjugated hyperbilirubinemia due to bilirubin overproduction. UpToDate. March 23, 2015; https://www.uptodate.com/contents/gilbert-syndrome-and-unconjugated-hyperbilirubinemia-due-to-bilirubin-overproduction.
            4. Crigler Najjar Syndrome. National Organization for Rare Disorders (NORD). 2016; https://rarediseases.org/rare-diseases/crigler-najjar-syndrome/.
            5. Crigler-Najjar syndrome. Genetics Home Reference (GHR). February, 2012; https://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome.
            6. Gilbert Syndrome. Online Mendelian Inheritance of Man (OMIM). January 12, 2012; https://omim.org/entry/143500.
            7. Gilbert's syndrome. MayoClinic.com. July 2, 2015; https://www.mayoclinic.org/diseases-conditions/gilberts-syndrome/basics/definition/con-20024904?METHOD=print&p=1.

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