Gilbert syndrome
Findings
No curated finding names Gilbert syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.
Definition from the Mondo Disease Ontology (MONDO:0007745), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Unconjugated hyperbilirubinemiaHPOHP:0008282
- 20 of 20 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 0 of 20 reported patients
- Hepatic failureHPOHP:0001399
- 0 of 20 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- UGT1A1HGNC:12530
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
4 names
Resolves to: Gilbert syndrome
- Also called
- familial cholemiaGilbert diseaseGilbert's syndromehyperbilirubinemia type 1