cholestasis, progressive familial intrahepatic, 4
Findings
No curated finding names cholestasis, progressive familial intrahepatic, 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014381), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Progressive
HPO, annotations 2026-09-02
Features
5 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
- Hepatocellular carcinomaHPOHP:0001402
- 2 of 2 reported patients
- Intrahepatic cholestasisHPOHP:0001406
- 14 of 14 reported patients
- Hepatic failureHPOHP:0001399
- 11 of 14 reported patients
- Portal hypertensionHPOHP:0001409
- 2 of 12 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.
- TJP2HGNC:11828
- Strong · Ambry Genetics · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
6 names
Resolves to: cholestasis, progressive familial intrahepatic, 4
- Also called
- cholestasis, progressive familial intrahepatic, type 4PFIC4progressive familial intrahepatic cholestasis caused by mutation in TJP2progressive familial intrahepatic cholestasis type 4TJP2 deficitTJP2 progressive familial intrahepatic cholestasis