Short answer · Medically reviewed summary · Last updated: 2026-04-07

TL;DR: Yes, Rotor syndrome is an inherited genetic condition caused by mutations in the SLCO1B1 and SLCO1B3 genes. It follows an autosomal recessive inheritance pattern, meaning an individual must inherit two copies of the mutated gene—one from each parent—to manifest the disorder. Is Rotor syndrome a hereditary condition? Rotor syndrome is strictly a hereditary condition, meaning it is passed down through families via genetic material.

Is Rotor syndrome hereditary?

Name: Is Rotor syndrome hereditary?
Creator: DiseaseMaps Editorial Team
Published: 2015-10-10UTC00:31:39.0000000

Is Rotor syndrome hereditary? The genetic component explained in plain language, reviewed against medical sources, with patient experiences.

TL;DR: Yes, Rotor syndrome is an inherited genetic condition caused by mutations in the SLCO1B1 and SLCO1B3 genes. It follows an autosomal recessive inheritance pattern, meaning an individual must inherit two copies of the mutated gene—one from each parent—to manifest the disorder.

Is Rotor syndrome a hereditary condition?

Rotor syndrome is strictly a hereditary condition, meaning it is passed down through families via genetic material. It is not caused by environmental factors, lifestyle choices, or infectious agents. Because it is a genetic disorder, the underlying mutations are present from the moment of conception in every cell of the body. While it is hereditary, it is important to note that it is a benign, chronic condition that does not typically result in liver damage or life-threatening complications, distinguishing it from more severe liver-related genetic disorders.

What is the inheritance pattern of Rotor syndrome?

Rotor syndrome follows an autosomal recessive inheritance pattern. In this context, "autosomal" means the genes involved are located on non-sex chromosomes, and "recessive" means both copies of the specific genes must be altered for the condition to occur. Parents of an individual with Rotor syndrome are typically "obligate carriers," meaning they each carry one mutated copy of the gene but do not exhibit symptoms themselves. When two carriers have a child, the risk factors are as follows:

25% chance: The child inherits two mutated genes and will have Rotor syndrome.

50% chance: The child inherits one mutated gene and will be an asymptomatic carrier.

25% chance: The child inherits two normal genes and will neither have the condition nor be a carrier.

Are de novo mutations common in Rotor syndrome?

De novo (spontaneous) mutations, which appear for the first time in a family without a prior history, are extremely rare in the context of Rotor syndrome. Because the condition is autosomal recessive, it is highly probable that both parents are carriers. If an individual is diagnosed with Rotor syndrome, it is almost certain that the genetic variants were inherited from their parents rather than occurring as a new, spontaneous event in the affected individual.

How is genetic testing utilized for families?

Genetic testing for Rotor syndrome is available and involves sequencing the SLCO1B1 and SLCO1B3 genes to identify pathogenic variants. Testing is generally recommended when clinical symptoms—specifically conjugated hyperbilirubinemia without evidence of liver disease or bile duct obstruction—are present. For families who have already had a child with the condition, genetic counseling is highly recommended to understand the recurrence risk for future pregnancies. Prenatal diagnosis is technically possible through amniocentesis or chorionic villus sampling if the specific familial mutations have been identified, though it is rarely pursued given the benign nature of the condition.

Next steps

Consult with a clinical geneticist or a hepatologist to confirm the diagnosis of Rotor syndrome through genetic testing.

Seek a referral for genetic counseling if you are planning a pregnancy and have a family history of the condition.

Join the community at DiseaseMaps.org to connect with others and share experiences regarding the management of Rotor syndrome.

Discuss the results of any genetic tests with your primary care provider to ensure your medical records accurately reflect your carrier status or diagnosis.

Medical disclaimer: This information is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.