Dubin-Johnson syndrome
Findings
No curated finding names Dubin-Johnson syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.
Definition from the Mondo Disease Ontology (MONDO:0009380), read 2026-09-29. CC BY 4.0.
Features
11 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.
- Abnormal urinary colorHPOHP:0012086
- Very frequent (80% to 99% of cases)
- Abnormality of the liverHPOHP:0001392
- Very frequent (80% to 99% of cases)
- Biliary tract abnormalityHPOHP:0001080
- Very frequent (80% to 99% of cases)
- Conjugated hyperbilirubinemiaHPOHP:0002908
- Very frequent (80% to 99% of cases)
- JaundiceHPOHP:0000952
- Very frequent (80% to 99% of cases)
- Abnormal gastric mucosa morphologyHPOHP:0004295
- Frequent (30% to 79% of cases)
- Abdominal painHPOHP:0002027
- Occasional (5% to 29% of cases)
- Abnormality of coagulationHPOHP:0001928
- Occasional (5% to 29% of cases)
- FatigueHPOHP:0012378
- Occasional (5% to 29% of cases)
- FeverHPOHP:0001945
- Occasional (5% to 29% of cases)
- HepatomegalyHPOHP:0002240
- Occasional (5% to 29% of cases)
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.
- ABCC2HGNC:53
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: Dubin-Johnson syndrome
- Also called
- chronic idiopathic jaundiceDubin Johnson SyndromeDubin-Sprinz diseasehyperbilirubinemia type 2Sprinz-Nelson syndrome