ORPHA:234
Dubin-Johnson syndrome
Also known as: Dubin-Sprinz disease · Hyperbilirubinemia type 2 · Sprinz-Nelson syndrome
Publications
1,170
Trials
1
Interventional, condition-specific
Researchers
1,148
Distinct authors in sample
Gene link
ABCC2
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare liver disease characterized clinically by a benign, chronic, predominantly conjugated hyperbilirubinemia, and histopathologically by black-brown pigment deposition in parenchymal liver cells.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009380
- MeSH:D007566
- OMIM:237500
- UMLS:C0022350
- NCIT:C34741
Additional Mondo synonyms (3)
Dubin Johnson Syndrome · chronic idiopathic jaundice · hyperbilirubinemia type 2
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — ABCC2
- LiteraturePresent
1,170 matched papers (361 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (ABCC2).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
1,170
1,170 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
1,170 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
361 in the last 10 years · low confidence
Phrase hits: 1,170 · MeSH hits: 0
Who's working on it?
1,148
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Li X7 papers · 2026
Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Papers in Europe PMC - 02Barbu V6 papers · 2021
Laboratoire Commun de Biologie et de Génétique Moléculaires, Hôpital Saint-Antoine, 184, rue du Faubourg Saint-Antoine, 75012, Paris, France.
Papers in Europe PMC - 03Chen Y6 papers · 2026
Fujian Medical University Union Hospital, Fuzhou, Fujian, China.
Papers in Europe PMC - 04Li Y6 papers · 2020
Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Papers in Europe PMC - 05Jia J5 papers · 2026
Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China.
Papers in Europe PMC - 06Li H5 papers · 2026
Fujian provincial hospital, Shengli Clinical Medical College of Fujian Medical University, Fuzhou, 350001, China.
Papers in Europe PMC - 07Ou X5 papers · 2026
Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China.
Papers in Europe PMC - 08Wu L5 papers · 2025
Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China.
Papers in Europe PMC - 09Zhang W5 papers · 2025
Clinical Research Center for Rare Liver Diseases, Capital Medical University, Beijing, China.
Papers in Europe PMC - 10Zhang Y5 papers · 2024
Department of Metabolism and Pharmacokinetics, Bristol Myers Squibb Company, Princeton, NJ, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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 on the overview but are not added to the query string.
"Dubin-Johnson syndrome" OR "Dubin-Sprinz disease" OR "Hyperbilirubinemia type 2" OR "Sprinz-Nelson syndrome" OR "Dubin Johnson Syndrome" OR "chronic idiopathic jaundice"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Dubin-Johnson syndrome" OR "Dubin-Sprinz disease" OR "Hyperbilirubinemia type 2" OR "Sprinz-Nelson syndrome" OR "Dubin Johnson Syndrome" OR "chronic idiopathic jaundice" OR "ABCC2"
Recall-expansion terms: ABCC2
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (1170) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T13:01:06.405Z