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Crigler-Najjar syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Crigler-Najjar syndrome

MONDO:0009044

Also known as:UGT deficiencybilirubin UDP glucuronyl transferase deficiencybilirubin uridinediphosphate glucuronosyltransferase deficiency

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Overview

Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.

TreatmentsNo approved treatments · 4 in pipeline

Clinical Trials3 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Jaundice, Neonatal hyperbilirubinemia, and High bilirubin levels (unconjugated hyperbilirubinemia); and common findings: Low muscle tone (hypotonia) and Poor suck. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Seizure, Memory problems (memory impairment), Difficulty with thinking and memory (cognitive impairment)

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Crigler-Najjar syndrome. An additional 4 compounds hold orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for Crigler-Najjar syndrome, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for Crigler-Najjar syndrome. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

Prognosis

Phenotype severity distribution: 3 very common features, 2 common features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

3 clinical trials registered, 1 recruiting. Interventions under study include drug therapy and gene therapy. Pipeline includes 1 PHASE2, 1 PHASE1, 1 NA. Research is primarily sponsored by academic and government institutions.

28 publications have been identified in PubMed for Crigler-Najjar syndrome. Research spans Case Report / Case Series (36%), Review / Meta-Analysis (29%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Patient case studies	10

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:205

GARD

Genetic and Rare Diseases Info Center

GARD:16526

Questions for Your Care Team

→Are any of the 3 active clinical trials a good fit for my situation?
→With 4 compounds in the orphan drug pipeline, which are furthest along in development and which clinical trials should I be aware of?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Crigler-Najjar syndrome

Overview

Clinical Presentation

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications

Crigler-Najjar syndrome

Overview

Clinical Presentation

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications