National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Rotor syndrome


Other Names:
Hyperbilirubinemia, Rotor type; Rotor-type hyperbilirubinemia
Categories:
Rotor syndrome is an inherited disorder characterized by elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down, and has an orange-yellow tint. The buildup of bilirubin in the body causes yellowing of the skin or whites of the eyes (jaundice), which is the only symptom of the disorder. Jaundice is usually evident in infancy or early childhood, and it may come and go. Rotor syndrome is caused by having mutations in both the SLCO1B1 and SLCO1B3 genes and is inherited in an autosomal recessive manner. The disorder is generally considered benign, and no treatment is needed.[1][2]
Last updated: 4/8/2015
Jaundice, characterized by yellowing of the skin and/or whites of the eyes (conjunctival icterus), is usually the only symptom of Rotor syndrome. Jaundice usually begins shortly after birth or in childhood and may come and go.[1]
Last updated: 4/9/2015

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.

Showing of 8 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Conjugated hyperbilirubinemia 0002908
Jaundice
Yellow skin
Yellowing of the skin
[ more ] 		0000952
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Abnormality of the gastric mucosa
Abnormality of the mucous membrane layer of stomach
0004295
Fever 0001945
Percent of people who have these symptoms is not available through HPO
Abnormality of skin pigmentation
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ] 		0001000
Abnormality of the skeletal system
Skeletal abnormalities
Skeletal anomalies
[ more ] 		0000924
Autosomal recessive inheritance 0000007
Showing of 8 |
Last updated: 7/1/2020
Rotor syndrome is an inherited disorder caused by having mutations in both the SLCO1B1 and SLCO1B3 genes. These genes provide instructions for making proteins that are found in liver cells, where they transport bilirubin and other substances from the blood into the liver so that they can be cleared from the body. In the liver, bilirubin is dissolved in a digestive fluid called bile, and then excreted from the body.[2]

The mutations in the SLCO1B1 and SLCO1B3 genes that cause Rotor syndrome either prevent the production of the transporting proteins, or prevent them from functioning properly. When this occurs, bilirubin is not effectively removed from the body and builds up, leading to jaundice.[2]

Last updated: 4/9/2015
Rotor syndrome is diagnosed based on symptoms and various laboratory tests. Physical exams in affected people are typically normal, except for mild jaundice.

There are two forms of bilirubin in the body: a toxic form called unconjugated bilirubin and a nontoxic form called conjugated bilirubin. People with Rotor syndrome have a buildup of both in their blood (hyperbilirubinemia), but having elevated levels of conjugated bilirubin is the hallmark of the disorder. Conjugated bilirubin in affected people is usually more than 50% of total bilirubin.[2][1]

To confirm a disgnosis of Rotor syndrome, a person may have the following performed:
Last updated: 4/9/2015
Rotor syndrome is considered a benign disorder and does not require treatment.[1]

While no adverse drug reactions have been reported in people with Rotor syndrome, a number of commonly used drugs and/or their metabolites may have serious consequences in affected people. This is because some drugs enter the liver via one of the two transporter proteins that are absent in affected people.[1] People with Rotor syndrome should make sure all of their health care providers are aware of their diagnosis and should check with their health care providers regarding drugs that should be avoided.
Last updated: 4/9/2015

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The principle differential diagnosis is Dubin-Johnson syndrome (DJS; see this term). DJS and RT can be distinguished on the basis of measurements of urinary coproporphyrin excretion (total coproporphyrin excretion levels are normal in DJS) and liver histology (black-brown liver cell pigmentation is specific to DJS). If liver biopsy is not feasible or is refused, 99mTc-HIDA cholescintigraphy (revealing prominent kidney excretion in RT) or molecular analysis (detection of ABCC2 gene mutations in DJS patients) can be useful for distinguishing between RT and DJS.
Visit the Orphanet disease page for more information.

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 Providing General Support

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

  • 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.
  • 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 Rotor syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My husband drinks a lot of beer. Could his drinking cause this and will it get worse if he keeps drinking beer? See answer

  • The underlying genetic cause for Rotor syndrome was recently indentified. Can you post information about this on your web site? See answer

  • How is Rotor syndrome diagnosed? See answer


  1. Milan Jirsa, AS Knisely, Alfred Schinkel, and Stanislav Kmoch. Rotor Syndrome. GeneReviews. December 13, 2012; http://www.ncbi.nlm.nih.gov/books/NBK114805/.
  2. Rotor syndrome. Genetics Home Reference (GHR). March 2013; http://ghr.nlm.nih.gov/condition/rotor-syndrome.