IEMbase 0553: SLCO1B1/SLCO1B3-related Rotor syndrome
Scope
| Field | Value |
|---|---|
| IEMbase ID | 553 |
| Nosology | 17.2.17.01 |
| Genes | SLCO1B1; SLCO1B3 |
| External IDs | OMIM:237450; OMIM:604843; OMIM:605495; ORPHA:3111 |
| Generated mapping | UNMAPPED; low candidate Bartter_Syndrome.yaml#Type 4B |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents digenic Rotor syndrome due to SLCO1B1 and SLCO1B3, with alternate labels OATP1B1 and OATP1B3 disease and digenic hyperbilirubinemia, Rotor type. Treatability is unknown. No treatment rows are listed.
The biochemical rows include positive SLCO1B1 and SLCO1B3 gene findings, decreased clearance of unconjugated bromsulfthalein, markedly increased urinary coproporphyrin I, increased conjugated bilirubin, and normal liver biopsy without pigment. The characteristic clinical row is jaundice.
DisMech phenotype coverage
No exact local Rotor syndrome target was found for SLCO1B1, SLCO1B3, OATP1B1, OATP1B3, or Rotor syndrome. The low Bartter syndrome type 4B candidate is not valid; it is an unrelated renal salt-handling disorder and does not model hepatic organic-anion transport or digenic conjugated hyperbilirubinemia.
Local porphyria entries mention coproporphyrin species, but their scope is heme biosynthesis and porphyrin toxicity, not Rotor syndrome organic-anion transport.
Concordance and completeness
Judgement: true local disease gap; reject the Bartter candidate.
IEMbase captures a specific digenic hepatobiliary transport disorder with conjugated hyperbilirubinemia, urinary coproporphyrin I elevation, impaired bromsulfthalein clearance, normal unpigmented liver biopsy, and jaundice. No current DisMech entry is an appropriate target.
Curation actions
- Keep this record unmapped until a Rotor syndrome / SLCO1B1-SLCO1B3 target exists.
- Do not map to
Bartter_Syndrome.yaml#Type 4Bor to porphyria entries. - Preserve the digenic inheritance, OATP1B1/OATP1B3 labels, urinary coproporphyrin I, conjugated bilirubin, bromsulfthalein clearance, normal liver biopsy, and jaundice prompts.