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An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.
Features include always present findings: High bilirubin levels (unconjugated hyperbilirubinemia). 4 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 3 | Hepatic failure, Elevated circulating hepatic transaminase concentration, Jaundice |
UGT1A1 function has not been fully characterized.
Gilbert syndrome is associated with mutations in the UGT1A1 gene on chromosome 2.
Genetic testing for UGT1A1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Gilbert syndrome has been reported in the published literature.
Phenotype severity distribution: 1 always present feature.
1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
73 publications have been identified in PubMed for Gilbert syndrome. Research spans Case Report / Case Series (47%), Review / Meta-Analysis (15%), and Basic Science / Preclinical (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 34 | 47% |
Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 2:27 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Common questions about Gilbert syndrome
2 |
High bilirubin levels (unconjugated hyperbilirubinemia), Elevated circulating hepatic transaminase concentration |
Research summaries |
11 |
15% |
Laboratory research | 10 | 14% |
Disease patterns and progression | 8 | 11% |
Other research | 4 | 5% |
Clinical study results | 4 | 5% |
Testing and diagnosis research | 2 | 3% |
Rostomova N (2026). [PMID: 42107946](https://pubmed.ncbi.nlm.nih.gov/42107946/). *Georgian Med News*. [Clinical Trial Publication]
Ghimire PG (2026). [PMID: 41973709](https://pubmed.ncbi.nlm.nih.gov/41973709/). *PLoS One*. [Epidemiology / Natural History]
Jesus Sá C (2026). [PMID: 41658774](https://pubmed.ncbi.nlm.nih.gov/41658774/). *Cureus*. [Case Report / Case Series]
Singh A (2026). [PMID: 31747203](https://pubmed.ncbi.nlm.nih.gov/31747203/). *Unknown Journal*. [Other]
Elgadi M (2026). [PMID: 40845198](https://pubmed.ncbi.nlm.nih.gov/40845198/). *Clinical pharmacology in drug development*. [Clinical Trial Publication]
Churchill N (2026). [PMID: 42008064](https://pubmed.ncbi.nlm.nih.gov/42008064/). *Egypt Heart J*. [Review / Meta-Analysis]
Xia Z (2026). [PMID: 41478713](https://pubmed.ncbi.nlm.nih.gov/41478713/). *Journal of stroke*. [Epidemiology / Natural History]
Alventosa-Mateu C (2026). [PMID: 42024132](https://pubmed.ncbi.nlm.nih.gov/42024132/). *Rev Esp Enferm Dig*. [Review / Meta-Analysis]
Huynh Van T (2026). [PMID: 41871897](https://pubmed.ncbi.nlm.nih.gov/41871897/). *BMJ case reports*. [Case Report / Case Series]
Shameem S (2026). [PMID: 41806906](https://pubmed.ncbi.nlm.nih.gov/41806906/). *Critical reviews in oncology/hematology*. [Review / Meta-Analysis]