ORPHA:3111
Rotor syndrome
Also known as: Hyperbilirubinemia, Rotor type
Clinical definition (Orphanet)
A rare inherited liver disease characterized by benign, chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Is anyone studying this?
286
286 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
286 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
179 in the last 10 years · medium confidence · 79.8th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
medium confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
1,009
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Jirsa M10 papers · 2020
Centre for Experimental Medicine, Institute for Clinical and Experimental Medicine 14021 Prague 4, Czech Republic.
Papers in Europe PMC - 02Li Y7 papers · 2025
Faculty of Medicine and Health, Sydney Pharmacy School, The University of Sydney, Camperdown, NSW 2006 Australia.
Papers in Europe PMC - 03Wang J6 papers · 2026
Key Laboratory of Animal Genetics, Breeding and Reproduction of the Ministry of Agriculture and Rural Affairs and Beijing Key Laboratory of Animal Genetic Improvement, China Agricultural University, Beijing, 100193, China.
Papers in Europe PMC - 04Dawson PA5 papers · 2025
Department of Pediatrics, Division of Gastroenterology, Hepatology, and Nutrition, Emory University, Atlanta, GA 30322, United States. Electronic address: paul.dawson@emory.edu.
Papers in Europe PMC - 05Zhang Y5 papers · 2023
Shanghai Fifth People's Hospital, Fudan University, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism (Ministry of Science and Technology), Institutes of Biomedical Sciences, Fudan University, Shanghai, China. zyq_lab@fudan.edu.cn.
Papers in Europe PMC - 06Brouwer KLR4 papers · 2025
Division of Pharmacotherapy and Experimental Therapeutics, UNC Eshelman School of Pharmacy, University of North Carolina, Chapel Hill, NC, USA. Electronic address: kbrouwer@unc.edu.
Papers in Europe PMC - 07Chen Y4 papers · 2026
Difficult & Complicated Liver Diseases and Artificial Liver Center, Beijing You An Hospital, Capital Medical University, Beijing, China.
Papers in Europe PMC - 08Kmoch S4 papers · 2016
Department of Pediatrics and Inherited Metabolic Disorders, Charles University, Prague, Czech Republic
Papers in Europe PMC - 09Li X4 papers · 2026
The Second Affiliated Hospital of Fujian Medical University, Quanzhou, Fujian, China.
Papers in Europe PMC - 10Niemi M4 papers · 2025
Department of Clinical Pharmacology, Individualized Drug Therapy Research Program, University of Helsinki, Helsinki, Finland.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Rotor syndrome" OR "Hyperbilirubinemia, Rotor type" OR "hyperbilirubinemia, rotor type, digenic"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Rotor syndrome" OR "Hyperbilirubinemia, Rotor type" OR "hyperbilirubinemia, rotor type, digenic"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:237450 UMLS:C0220991
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus