IEMbase 0186: ABCB11-related progressive familial intrahepatic cholestasis type 2
Scope
| Field | Value |
|---|---|
| IEMbase ID | 186 |
| Nosology | 14.8.05.01 |
| Gene | ABCB11 |
| External IDs | OMIM:603201; ORPHA:79304 |
| Generated mapping | UNMAPPED; best candidate Progressive_Familial_Heart_Block.yaml#Type 1A |
| Candidate DisMech targets | None valid; heart-block candidate is false |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as ABCB11-related progressive familial intrahepatic cholestasis type 2, with PFIC2 as the alternate label. Treatability is marked unknown.
The biochemical rows include increased serum bile acids, positive ABCB11 sequencing, markedly increased plasma bile acids by enzyme assay, normal gamma-GT, and increased sweat chloride. Clinical rows include neonatal or infantile giant-cell hepatitis, liver cirrhosis, filamentous bile on electron microscopy, failure to thrive, gallstones, itching, jaundice, and childhood or adolescent malignant hepatoma risk. Treatment rows list partial biliary diversion and liver transplantation.
DisMech phenotype coverage
No valid local ABCB11/PFIC2 disease target was found. The generated candidate
Progressive_Familial_Heart_Block.yaml#Type 1A is a lexical false positive and
models cardiac conduction disease, not ABCB11/BSEP-related cholestasis.
Concordance and completeness
Judgement: true local disease gap; generated heart-block candidate is false.
IEMbase provides the expected PFIC2 profile with ABCB11 identity, normal gamma-GT cholestasis, very high bile acids, pruritus, gallstones, cirrhosis, giant-cell hepatitis, malignancy risk, partial biliary diversion, and liver transplantation. No current local disease entry captures this target.
Curation actions
- Do not map this record to progressive familial heart block.
- Add a future ABCB11/PFIC2 or BSEP deficiency entry if PFIC disorders are in scope.
- Seed the future entry with low/normal gamma-GT cholestasis, markedly increased bile acids, giant-cell hepatitis, filamentous bile, pruritus, gallstones, hepatocellular malignancy risk, partial biliary diversion, and liver transplantation.