progressive familial intrahepatic cholestasis type 3
Findings
No curated finding names progressive familial intrahepatic cholestasis type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.
Definition from the Mondo Disease Ontology (MONDO:0011214), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CirrhosisHPOHP:0001394
- 2 of 2 reported patients
- DiarrheaHPOHP:0002014
- 2 of 2 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 2 of 2 reported patients
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 2 of 2 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 2 reported patients
- JaundiceHPOHP:0000952
- 2 of 2 reported patients
- Portal fibrosisHPOHP:0006580
Show the remaining 1
- Portal inflammationHPOHP:0033196
- 1 of 2 reported patients
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.
- ABCB4HGNC:45
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: progressive familial intrahepatic cholestasis type 3
- Also called
- ABCB4 progressive familial intrahepatic cholestasischolestasis, progressive familial intrahepatic 3cholestasis, progressive familial intrahepatic, type 3MDR3 DeficiencyPFIC3progressive familial intrahepatic cholestasis caused by mutation in ABCB4