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ORPHA:234

Dubin-Johnson syndrome

low confidenceDisorder

Also known as: Dubin-Sprinz disease · Hyperbilirubinemia type 2 · Sprinz-Nelson syndrome

Publications

8,206

Trials

0

Interventional, condition-specific

Researchers

1,175

Distinct authors in sample

Gene link

ABCC2

Strong

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — ABCC2

  2. LiteraturePresent

    8,206 matched papers (4,644 in last 10 years) Source

  3. Phenotype characterisedPresent

    14 HPO annotations (e.g. Conjugated hyperbilirubinemia; Biliary tract abnormality; Jaundice) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

14

Associated phenotypes · MONDO:0009380

  • Conjugated hyperbilirubinemia
  • Biliary tract abnormality
  • Jaundice

Showing 3 of 14 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

8,206

8,206 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

8,206 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

4,644 in the last 10 years · low confidence

Phrase hits: 1,170 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,175

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.

  1. 01
    Wang J9 papers · 2026

    Guangxi Key Laboratory of Agro-Environment and Agric-Products Safety, College of Agriculture, Guangxi University, Nanning, Guangxi 530004, China.

    Papers in Europe PMC
  2. 02
    Li X8 papers · 2026

    School of Agricultural Sciences, Zhengzhou University, Zhengzhou 450001, China.

    Papers in Europe PMC
  3. 03
    Chen Y7 papers · 2026

    Department of Clinical Epidemiology and Evidence-Based Medicine, the First Hospital of China Medical University, Shenyang, China.

    Papers in Europe PMC
  4. 04
    Li J7 papers · 2026

    Guangxi Key Laboratory of Agro-Environment and Agric-Products Safety, College of Agriculture, Guangxi University, Nanning, Guangxi 530004, China.

    Papers in Europe PMC
  5. 05
    Li Y7 papers · 2026

    State Key Laboratory of High-Efficiency Production of Wheat-Maize Double Cropping/College of Plant Protection, Henan Agricultural University, Zhengzhou 450046, China.

    Papers in Europe PMC
  6. 06
    Li H5 papers · 2026

    Herpetological Research Center, College of Life Sciences, Nanjing Normal University, Nanjing, China.

    Papers in Europe PMC
  7. 07
    Yang Y5 papers · 2026

    State Key Laboratory of Agricultural and Forestry Biosecurity, College of Plant Protection, Nanjing Agricultural University, Nanjing 211800, China. Electronic address: yhyang@njau.edu.cn.

    Papers in Europe PMC
  8. 08
    Barbu V4 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
  9. 09
    Huang Y4 papers · 2026

    Department of Pharmacy, Xiamen Medical College, Xiamen, Fujian 361023, P.R. China.

    Papers in Europe PMC
  10. 10
    Jia J4 papers · 2026

    Liver Research Center, Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, P.R. China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

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 — people publishing on this disease are often the practical next contact when no trial is listed.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 21 · after dedupe 21 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 21 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (21)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Dubin-Johnson syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("ABCC2" OR "ABCC2 syndrome" OR "ABCC2-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

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 (8206) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:01:06.405Z