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Crigler-Najjar syndrome type 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Crigler-Najjar syndrome type 2

MONDO:0011725

Also known as:Arias syndromeUGT deficiency type 2bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2

Overview

Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1.

GeneticsAutosomal recessive · UGT1A1 (chr 2)

ResearchLimited published research (8 articles)

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 always present findings: High bilirubin levels (unconjugated hyperbilirubinemia) and Jaundice. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	2	High bilirubin levels (unconjugated hyperbilirubinemia), Elevated circulating hepatic transaminase concentration

Genetic Landscape

UGT1A1 function has not been fully characterized.

Crigler-Najjar syndrome type 2 is associated with mutations in the UGT1A1 gene on chromosome 2.

Diagnosis

Genetic testing for UGT1A1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features.

Estimated prevalence: Unknown (Unknown prevalence).

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.

No clinical trials have been registered for Crigler-Najjar syndrome type 2.

9 publications have been identified in PubMed for Crigler-Najjar syndrome type 2. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (13%).

Recent Publications

Shrestha AK (2025). [PMID: 40776513](https://pubmed.ncbi.nlm.nih.gov/40776513/). *Journal of Nepal Health Research Council*. [Case Report / Case Series]
Liu Y (2025). [PMID: 39746499](https://pubmed.ncbi.nlm.nih.gov/39746499/). *Pharmacological research*. [Basic Science / Preclinical]
Chand H (2025). [PMID: 40776524](https://pubmed.ncbi.nlm.nih.gov/40776524/). *Journal of Nepal Health Research Council*. [Case Report / Case Series]
Ali MS (2025). [PMID: 39825644](https://pubmed.ncbi.nlm.nih.gov/39825644/). *Journal of applied microbiology*. [Basic Science / Preclinical]
Zhang J (2025). [PMID: 40616752](https://pubmed.ncbi.nlm.nih.gov/40616752/). *Frontiers of medicine*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606785

Orphanet

European rare disease database

Orphanet:79235

GARD

Genetic and Rare Diseases Info Center

GARD:8683

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 type 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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