RARE DISEASERESEARCH ATLAS

ORPHA:276405

Hyperbiliverdinemia

medium confidenceDisorder

Also known as: Green jaundice

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

40

32th percentile

Trials

0

Interventional, condition-specific

Researchers

171

Distinct authors in sample

Gene link

BLVRA

Moderate

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and biliary atresia has also been reported.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

green jaundice · hyperbiliverdinemia

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.”

2/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Moderate — BLVRA

  2. LiteraturePresent

    40 matched papers (14 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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?

Probably — there is moderate evidence for BLVRA.

GenCC classification: Moderate.

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?

40

40 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=5449) is 41.

40 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).

14 in the last 10 years · medium confidence · 32th percentile (publications denominator)

Phrase hits: 40 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

171

Distinct author names in 40 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
    Mancuso C3 papers · 2025

    Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.

    Papers in Europe PMC
  2. 02
    Beale R2 papers · 2021

    Cell Biology of Infection Laboratory, The Francis Crick Institute, London, UK.

    Papers in Europe PMC
  3. 03
    Briz O2 papers · 2016

    Experimental Hepatology and Drug Targeting (HEVEFARM), Biomedical Research Institute of Salamanca (IBSAL), University of Salamanca, Salamanca, Spain; Center for the Study of Liver and Gastrointestinal Diseases (CIBERehd), Carlos III National Health Institute, Madrid, Spain. Electronic address: obriz@usal.es.

    Papers in Europe PMC
  4. 04
    Cherepanov P2 papers · 2021

    Chromatin Structure and Mobile DNA Laboratory, The Francis Crick Institute, London, UK. peter.cherepanov@crick.ac.uk katie.doores@kcl.ac.uk l.mccoy@ucl.ac.uk george.kassiotis@crick.ac.uk.

    Papers in Europe PMC
  5. 05
    Christodoulou E2 papers · 2021

    Structural Biology Science Technology Platform, The Francis Crick Institute, London, UK.

    Papers in Europe PMC
  6. 06
    Cook NJ2 papers · 2021

    Chromatin Structure and Mobile DNA Laboratory, The Francis Crick Institute, London, UK.

    Papers in Europe PMC
  7. 07
    Doores KJ2 papers · 2021

    Department of Infectious Diseases, School of Immunology and Microbial Sciences, King's College London, London, UK. peter.cherepanov@crick.ac.uk katie.doores@kcl.ac.uk l.mccoy@ucl.ac.uk george.kassiotis@crick.ac.uk.

    Papers in Europe PMC
  8. 08
    dos Santos MS2 papers · 2021

    Metabolomics Science Technology Platform, The Francis Crick Institute, London, UK.

    Papers in Europe PMC
  9. 09
    Fertleman M2 papers · 2021

    Cutrale Perioperative and Ageing Group, Imperial College London, London, UK.

    Papers in Europe PMC
  10. 10
    Frosch T2 papers · 2016

    Leibniz Institute of Photonic Technology, Jena, Germany and Friedrich Schiller University, Institute for Physical Chemistry, Jena, Germany and Friedrich Schiller University, Abbe Centre of Photonics, Jena, Germany. torsten.frosch@uni-jena.de torsten.frosch@gmx.de.

    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 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

medium confidence · 36.5th 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.

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 2026-07-26

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.

"Hyperbiliverdinemia" OR "Green jaundice"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Hyperbiliverdinemia" OR "Green jaundice" OR "BLVRA"

Recall-expansion terms: BLVRA

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

Query health: suspect — strategies attempted: phrase, recall-expansion; 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

Ingested 2026-07-27T11:41:14.285Z