progressive familial intrahepatic cholestasis type 2
Findings
No curated finding names progressive familial intrahepatic cholestasis type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.
Definition from the Mondo Disease Ontology (MONDO:0011156), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ABCB11HGNC:42
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: progressive familial intrahepatic cholestasis type 2
- Also called
- ABCB11 progressive familial intrahepatic cholestasisBSEP deficiencycholestasis, progressive familial intrahepatic 2cholestasis, progressive familial intrahepatic, type 2PFIC2progressive familial intrahepatic cholestasis caused by mutation in ABCB11