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Rotor syndrome

Rotor syndrome

Reviewed March 2013

What is Rotor syndrome?

Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. It has an orange-yellow tint, and buildup of this substance can cause yellowing of the skin or whites of the eyes (jaundice). In people with Rotor syndrome, jaundice is usually evident shortly after birth or in childhood and may come and go; yellowing of the whites of the eyes (also called conjunctival icterus) is often the only symptom.

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 unconjugated and conjugated bilirubin in their blood, but the majority is conjugated.

How common is Rotor syndrome?

Rotor syndrome is a rare condition, although its prevalence is unknown.

What genes are related to Rotor syndrome?

The SLCO1B1 and SLCO1B3 genes are involved in Rotor syndrome. Mutations in both genes are required for the condition to occur. The SLCO1B1 and SLCO1B3 genes provide instructions for making similar proteins, called organic anion transporting polypeptide 1B1 (OATP1B1) and organic anion transporting polypeptide 1B3 (OATP1B3), respectively. Both proteins are found in liver cells; they transport bilirubin and other compounds 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.

The SLCO1B1 and SLCO1B3 gene mutations that cause Rotor syndrome lead to abnormally short, nonfunctional OATP1B1 and OATP1B3 proteins or an absence of these proteins. Without the function of either transport protein, bilirubin is less efficiently taken up by the liver and removed from the body. The buildup of this substance leads to jaundice in people with Rotor syndrome.

Read more about the SLCO1B1 and SLCO1B3 genes.

How do people inherit Rotor syndrome?

This condition is inherited in an autosomal recessive pattern. In autosomal recessive inheritance, both copies of a gene in each cell have mutations. In Rotor syndrome, an affected individual must have mutations in both the SLCO1B1 and the SLCO1B3 gene, so both copies of the two genes are altered. The parents of an individual with this condition each carry one altered copy of both genes, but they do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of Rotor syndrome?

These resources address the diagnosis or management of Rotor syndrome and may include treatment providers.

You might also find information on the diagnosis or management of Rotor syndrome in Educational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about Rotor syndrome?

You may find the following resources about Rotor syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Rotor syndrome?

  • hyperbilirubinemia, Rotor type

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about Rotor syndrome?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding Rotor syndrome?

anion ; autosomal ; autosomal recessive ; bile ; bilirubin ; cell ; digestive ; gene ; hyperbilirubinemia ; icterus ; inheritance ; inherited ; jaundice ; prevalence ; protein ; recessive ; symptom ; syndrome ; toxic

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (3 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: March 2013
Published: December 22, 2014