IEMbase 0554: ABCC2-related Dubin-Johnson syndrome
Scope
| Field | Value |
|---|---|
| IEMbase ID | 554 |
| Nosology | 17.2.02.01 |
| Gene | ABCC2 |
| External IDs | OMIM:237500; OMIM:601107; ORPHA:234 |
| Generated mapping | UNMAPPED; best candidate Stevens-Johnson_Syndrome.yaml |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents ABCC2-related canalicular bilirubin glucuronide transporter deficiency, with alternate labels Dubin-Johnson syndrome and ABCC2/DJS. The record is autosomal recessive, and treatability is unknown. No treatment rows are listed.
The biochemical rows include positive ABCC2 sequencing, normal clearance of unconjugated bromsulfthalein, normal urinary coproporphyrin I, normal-to-increased conjugated bilirubin, and pigment granules in liver biopsy. Characteristic clinical rows are episodic jaundice and a normal myocardial ischemia row.
DisMech phenotype coverage
No exact local Dubin-Johnson syndrome target was found for ABCC2 or canalicular
bilirubin transport. The generated Stevens-Johnson_Syndrome.yaml candidate is
a lexical false positive from the name "Johnson"; it is a severe mucocutaneous
drug-reaction phenotype, not an inherited bilirubin transporter disorder.
Local porphyria records mention coproporphyrins, but they do not model ABCC2, black liver pigment, or benign conjugated hyperbilirubinemia.
Concordance and completeness
Judgement: true local disease gap; reject the Stevens-Johnson candidate.
IEMbase provides a focused Dubin-Johnson profile with ABCC2 identity, conjugated bilirubin, liver pigment granules, episodic jaundice, and distinguishing normal coproporphyrin I and bromsulfthalein rows. No current local disease file captures this target.
Curation actions
- Keep this record unmapped until an ABCC2 / Dubin-Johnson syndrome target exists.
- Do not map to
Stevens-Johnson_Syndrome.yamlor porphyria entries. - Preserve liver pigment granules, conjugated bilirubin, episodic jaundice, normal coproporphyrin I, normal bromsulfthalein clearance, and the differential normal myocardial-ischemia row as review prompts.