Rotor syndrome
Findings
No curated finding names Rotor syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.
Definition from the Mondo Disease Ontology (MONDO:0009379), read 2026-09-29. CC BY 4.0.
- Inheritance
- Digenic inheritance
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Conjugated hyperbilirubinemiaHPOHP:0002908
- Very frequent (80% to 99% of cases)
- JaundiceHPOHP:0000952
- Very frequent (80% to 99% of cases)
- BilirubinuriaHPOHP:0031811
- Frequent (30% to 79% of cases)
- HyperbilirubinemiaHPOHP:0002904
- Frequent (30% to 79% of cases)
- PorphyrinuriaHPOHP:0010473
- Frequent (30% to 79% of cases)
- Conjunctival icterus
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
2 names
Resolves to: Rotor syndrome
- Also called
- hyperbilirubinemia, Rotor typehyperbilirubinemia, rotor type, digenic