IEMbase 0185: ATP8B1-related progressive familial intrahepatic cholestasis type 1
Scope
| Field | Value |
|---|---|
| IEMbase ID | 185 |
| Nosology | 14.8.04.01 |
| Gene | ATP8B1 |
| External IDs | OMIM:211600; ORPHA:79306 |
| 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 ATP8B1-related progressive familial intrahepatic cholestasis type 1, with alternate labels Byler disease and PFIC1. Treatability is marked unknown.
The biochemical rows include increased serum bile acids, positive ATP8B1 sequencing, increased plasma bile acids by enzyme assay, normal gamma-GT, and increased sweat chloride. Clinical rows include bland centrilobular cholestasis, coarse granular bile on electron microscopy, liver fibrosis, sensorineural deafness, diarrhea, failure to thrive, fat-soluble vitamin deficiency, jaundice, pancreatitis, pneumonia, delayed puberty, and steatorrhea. The treatment row lists liver transplantation.
DisMech phenotype coverage
No valid local ATP8B1/PFIC1 disease target was found. The generated candidate
Progressive_Familial_Heart_Block.yaml#Type 1A is a lexical false positive
from "progressive familial" and "type 1"; that file models cardiac conduction
disease, not intrahepatic cholestasis. Other local cholestasis entries mention
PFIC only as differential or context.
Concordance and completeness
Judgement: true local disease gap; generated heart-block candidate is false.
IEMbase provides a strong PFIC1 profile with ATP8B1 identity, low/normal gamma-GT cholestasis, bile acid elevation, extrahepatic ATP8B1 manifestations, and liver transplantation. None of that should be collapsed into the unrelated progressive familial heart block entry.
Curation actions
- Do not map this record to progressive familial heart block.
- Add a future ATP8B1/PFIC1 or Byler disease entry if PFIC disorders are in scope.
- Seed the future entry with normal gamma-GT cholestasis, serum bile acids, diarrhea, pancreatitis, sensorineural deafness, fat-soluble vitamin deficiency, and transplant context.