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IEMbase 0552: ABCB4-related progressive familial intrahepatic cholestasis type 3

Scope

Field Value
IEMbase ID 552
Nosology 14.8.06.01
Gene ABCB4
External IDs OMIM:602347; ORPHA:79305
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 ABCB4-related progressive familial intrahepatic cholestasis type 3. The record is autosomal recessive, and treatability is unknown. Treatment rows list ursodeoxycholic acid and liver transplantation.

The biochemical rows include increased serum bile acids, positive ABCB4 sequencing, increased plasma bile acids by enzyme assay, and increased gamma-glutamyl transpeptidase. Clinical rows include cholestatic jaundice, liver dysfunction, gallstones, biliary cirrhosis, liver fibrosis, portal inflammation with ductular proliferation, splenomegaly, and adolescent cholangiocarcinoma risk.

DisMech phenotype coverage

No valid local ABCB4/PFIC3 target was found. The generated Progressive_Familial_Heart_Block.yaml#Type 1A candidate is a lexical false positive from "progressive familial" and "type"; it models cardiac conduction disease, not ABCB4/MDR3-related hepatobiliary phospholipid transport disease.

This is consistent with prior PFIC1 and PFIC2 review notes, where ATP8B1 and ABCB11 PFIC records were also local gaps rather than heart-block mappings.

Concordance and completeness

Judgement: true local disease gap; generated heart-block candidate is false.

IEMbase provides a coherent PFIC3 profile with ABCB4 identity, high-GGT cholestasis, bile acid elevation, ductular proliferation, fibrosis/cirrhosis, gallstones, splenomegaly, cholangiocarcinoma risk, ursodeoxycholic acid, and liver transplantation. None of this should be collapsed into progressive familial heart block.

Curation actions

  • Do not map this record to progressive familial heart block.
  • Add a future ABCB4/PFIC3 or MDR3 deficiency entry if PFIC disorders are in scope.
  • Seed the future entry with high-GGT cholestasis, serum/plasma bile acids, ductular proliferation, fibrosis/cirrhosis, gallstones, splenomegaly, cholangiocarcinoma risk, ursodeoxycholic acid, and liver transplantation.