ORPHA:205
Crigler-Najjar syndrome
Also known as: Bilirubin uridinediphosphate glucuronosyltransferase deficiency · Bilirubin-UGT deficiency
Publications
1,599
91.8th percentile
Trials
7
Interventional, condition-specific
Researchers
1,173
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a either a complete (type 1) or partial and inducible (type 2) hepatic deficit of UDP-glucuronosyltransferase 1A1 activity. The disorder manifests with jaundice with a risk of developing bilirubin .
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009044
- MeSH:D003414
- UMLS:C5551003
- NCIT:C84656
Additional Mondo synonyms (6)
Crigler Najjar Syndrome · UGT deficiency · bilirubin UDP glucuronyl transferase deficiency · bilirubin uridinediphosphate glucuronosyltransferase deficiency · bilirubin-UGT deficiency · hereditary unconjugated hyperbilirubinemia
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,599 matched papers (674 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
7 matched on ClinicalTrials.gov (3 recruiting in sample)
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)
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?
1,599
1,599 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.
1,599 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).
674 in the last 10 years · high confidence · 91.8th percentile (publications denominator)
Phrase hits: 1,599 · MeSH hits: 0
Who's working on it?
1,173
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.
- 01Liu H6 papers · 2026
Medical Center of Hematology, Xinqiao Hospital of Army Medical University, Chongqing, 400037, People's Republic of China.
Papers in Europe PMC - 02Chen Y5 papers · 2025
Difficult & Complicated Liver Diseases and Artificial Liver Center, Beijing Youan Hospital, Capital Medical University, Beijing 100069,China; Beijing Municipal Key Laboratory of Liver Failure and Artificial Liver Treatment Research, Beijing 100069,China.
Papers in Europe PMC - 03Adjaye J4 papers · 2023
Institute for Stem Cell Research and Regenerative Medicine, Faculty of Medicine, Heinrich-Heine University, Moorenstrasse 5, 40225 Dusseldorf, Germany.
Papers in Europe PMC - 04Bosma PJ4 papers · 2024
Amsterdam UMC, University of Amsterdam, Tytgat Institute for Liver and Intestinal Research, Amsterdam Gastroenterology and Metabolism, Meibergdreef 69-71, 1105 BK, Amsterdam, The Netherlands.
Papers in Europe PMC - 05Chen X4 papers · 2025
Department of Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, China.
Papers in Europe PMC - 06Junge N4 papers · 2023
Department of Pediatrics, University Medical Center Hanover, Hanover, Germany.
Papers in Europe PMC - 07Li Y4 papers · 2025
Department of Radiology, Hangzhou Xixi Hospital, Hangzhou, Zhejiang Province, China.
Papers in Europe PMC - 08Bai J3 papers · 2026
Difficult & Complicated Liver Diseases and Artificial Liver Center, Beijing Youan Hospital, Capital Medical University, Beijing 100069,China; Beijing Municipal Key Laboratory of Liver Failure and Artificial Liver Treatment Research, Beijing 100069,China.
Papers in Europe PMC - 09Bortolussi G3 papers · 2024
International Centre for Genetic Engineering and Biotechnology (ICGEB), Padriciano 99, 34149 Trieste, Italy.
Papers in Europe PMC - 10Brunetti-Pierri N3 papers · 2024
Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy. brunetti@tigem.it.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
7
interventional trials for this specific condition
7 interventional trials matched this specific condition name; 3 currently recruiting in our sample.
Data as of 27 July 2026
7 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89.9th percentile).
high confidence · 89.9th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
7 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06518005·RECRUITING·Efficacy and Safety of GNT0003 Following Imlifidase Pre-treatment in Severe Crigler-Najjar Syndrome
Conditions: Crigler-Najjar Syndrome·Matched via name phrase
- NCT06641154·RECRUITING·Gene Therapy for Crigler Najjar Syndrome Type I (AlphaCN)
Conditions: Crigler-Najjar Syndrome Type I·Matched via name phrase
- NCT03466463·RECRUITING·Gene Therapy for Severe Crigler Najjar Syndrome
Conditions: Crigler-Najjar Syndrome·Matched via name phrase
Observational and natural-history studies
5 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.
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.
"Crigler-Najjar syndrome" OR "Bilirubin uridinediphosphate glucuronosyltransferase deficiency" OR "Bilirubin-UGT deficiency" OR "Crigler Najjar Syndrome" OR "UGT deficiency" OR "bilirubin UDP glucuronyl transferase deficiency" OR "hereditary unconjugated hyperbilirubinemia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Crigler-Najjar syndrome" OR "Bilirubin uridinediphosphate glucuronosyltransferase deficiency" OR "Bilirubin-UGT deficiency" OR "Crigler Najjar Syndrome" OR "UGT deficiency" OR "bilirubin UDP glucuronyl transferase deficiency" OR "hereditary unconjugated hyperbilirubinemia"
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: 7 interventional · 5 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
Ingested 2026-07-26T12:53:55.144Z