Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
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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.","mondoId":"MONDO:0009379","records":[{"frequencyKind":"range","key":"25039b17b42736645a3b046a8388e1460e9ba5cb7ab6ccfd0a9bcc36b4ba1992","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:3111","disease_name":"Rotor syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001046","is_excluded":false,"label":"Intermittent jaundice","onset_id":null,"reference":"ORPHA:3111","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"307053e618472d404c49ccfa7ccfde0d018c9d17c33d7cd49a81f7bdda621745","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:3111","disease_name":"Rotor syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0031137","is_excluded":true,"label":"Storage in 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system","onset_id":null,"reference":"OMIM:237450","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"c367d4a37fdf2d703cfefddc96264264600e4114fba8ba284d405bf387936ce1","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:3111","disease_name":"Rotor syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002904","is_excluded":false,"label":"Hyperbilirubinemia","onset_id":null,"reference":"ORPHA:3111","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e9da330546e5e21323b1230de7ad6c1c32935b129b645d1de2db13ab77aa0805","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:237450","disease_name":"Hyperbilirubinemia, Rotor type, digenic","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001000","is_excluded":false,"label":"Abnormal skin pigmentation","onset_id":null,"reference":"OMIM:237450","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"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.
","key":"forms","title":"What causes Rotor syndrome?"},{"bodyHtml":"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.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"rotor-syndrome","sourceDocuments":[{"name":"Rotor syndrome","reviewed":"2013-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:49.180555+00:00","label":"Causes","pageSha256":"106b263af07925377bf237e6a088a61b392fe02f8273984755c76305ec30d198","sourceUrl":"https://medlineplus.gov/genetics/condition/rotor-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/rotor-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Rotor syndrome"},"schemaVersion":1}