Living with Rotor syndrome
A mild inherited condition that raises bilirubin in the blood and can cause yellowing of the skin or eyes that comes and goes.
Understanding Rotor syndrome
Bilirubin is an orange-yellow substance made when red blood cells break down. Too much can cause yellowing of the skin or whites of the eyes (jaundice). In Rotor syndrome, jaundice is usually seen shortly after birth or in childhood and may come and go. Yellow eyes are often the only symptom.
Signs & symptoms
GARD lists this among the most common symptoms:
- Yellowing of the skin or eyes (jaundice)
- Jaundice that comes and goes
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Rotor syndrome is autosomal recessive, so a child inherits a changed copy of a gene from each parent. GARD does not name a gene in this record.
Also known as: hblrr; hyperbilirubinemia type i; hyperbilirubinemia, rotor type; hyperbilirubinemia, rotor type, digenic
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Rotor syndrome.
Explore research for Rotor syndrome
Explore actively recruiting Rotor syndrome studies with HealthSpark.
Find actively recruiting studies for Rotor syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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