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ORPHA:529808

Chronic bilirubin encephalopathy

medium confidenceDisorder

Also known as: BIND · Bilirubin-induced neurological dysfunction · CBE · KSD · Kernicterus spectrum disorder

Publications

359

73.5th percentile

Trials

0

Interventional, condition-specific

Researchers

947

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the period. Symptoms begin after the acute phase of bilirubin in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory spectrum disorder, and oculomotor and dental abnormalities.

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.

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    359 matched papers (273 in last 10 years) Source

  3. Phenotype characterisedPresent

    21 HPO annotations (e.g. Prolonged neonatal jaundice; Kernicterus; Central apnea) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

21

Associated phenotypes · MONDO:0035345

  • Prolonged neonatal jaundice
  • Kernicterus
  • Central apnea
  • Hepatic encephalopathy
  • Neonatal hyperbilirubinemia

Showing 5 of 21 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

359

359 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=3967) is 59.

359 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).

273 in the last 10 years · medium confidence · 73.5th percentile (publications denominator)

Phrase hits: 359 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

947

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
    Bhutani VK8 papers · 2026

    Prematurity Research Center, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.

    Papers in Europe PMC
  2. 02
    Tiribelli C8 papers · 2026

    Italian Liver Foundation, Centro Studi Fegato (CSF)Trieste, Italy; Department of Medical Sciences, University of TriesteTrieste, Italy.

    Papers in Europe PMC
  3. 03
    Slusher TM7 papers · 2026

    Division of Global Pediatrics, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.

    Papers in Europe PMC
  4. 04
    Donneborg ML6 papers · 2025

    Department of Pediatrics, North Denmark Regional Hospital, Hjoerring, Denmark. mld@rn.dk.

    Papers in Europe PMC
  5. 05
    Gazzin S6 papers · 2026

    Italian Liver Foundation, Centro Studi Fegato (CSF) Trieste, Italy.

    Papers in Europe PMC
  6. 06
    Ebbesen F5 papers · 2025

    Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.

    Papers in Europe PMC
  7. 07
    Jegathesan T5 papers · 2025

    Department of Pediatrics, St. Michael's Hospital, Toronto, Ontario.

    Papers in Europe PMC
  8. 08
    Satrom KM5 papers · 2026

    Department of Pediatrics, Division of Neonatology, University of Minnesota, Minneapolis, MN, USA.

    Papers in Europe PMC
  9. 09
    Shapiro SM5 papers · 2024

    Division of Child Neurology, Department of Pediatrics, Children's Mercy HospitalKansas City, MO, USA; Department of Neurology, University of Kansas Medical CenterKansas City, KS, USA; Department of Pediatrics, University of Missouri-Kansas City School of MedicineKansas City, MO, USA; Department of Pediatrics, University of Kansas Medical CenterKansas City, KS, USA.

    Papers in Europe PMC
  10. 10
    Wang J5 papers · 2026

    Neonatal Intensive Care Unit, Longyan First Affiliated Hospital of Fujian Medical University, Longyan, 364000, Fujian, People's Republic of 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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

medium 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.

Observational and natural-history studies

2 observational studies match 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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 41 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · dropped 0 · fetched 2026-07-30

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 (40)

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 Chronic bilirubin encephalopathy — 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.

"Chronic bilirubin encephalopathy" OR "Bilirubin-induced neurological dysfunction" OR "Kernicterus spectrum disorder"

Run this search on Europe PMC

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

"Chronic bilirubin encephalopathy" OR "Bilirubin-induced neurological dysfunction" OR "Kernicterus spectrum disorder"

Study-type breakdown: 0 interventional · 2 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

Synonyms dropped by stoplist: BIND; CBE; KSD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 3 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T18:06:50.716Z