cholestasis, progressive familial intrahepatic, 5
Findings
No curated finding names cholestasis, progressive familial intrahepatic, 5 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 NR1H4 gene.
Definition from the Mondo Disease Ontology (MONDO:0014884), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Infantile onset · Neonatal onset · Rapidly progressive
HPO, annotations 2026-09-02
Features
14 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
- 4 of 4 reported patients
- Conjugated hyperbilirubinemiaHPOHP:0002908
- 4 of 4 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 4 of 4 reported patients
- Elevated circulating alpha-fetoprotein concentrationHPOHP:0006254
- 4 of 4 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 4 of 4 reported patients
- Hepatic failureHPOHP:0001399
- 4 of 4 reported patients
- Prolonged prothrombin time
Show the remaining 2
- Nonimmune hydrops fetalisHPOHP:0001790
- 1 of 4 reported patients · Fetal onset
- Pleural effusionHPOHP:0002202
- 1 of 4 reported patients · Congenital onset
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.
- NR1H4HGNC:7967
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
6 names
Resolves to: cholestasis, progressive familial intrahepatic, 5
- Also called
- cholestasis, progressive familial intrahepatic, 5; PFIC5cholestasis, progressive familial intrahepatic, type 5NR1H4 deficiencyNR1H4 progressive familial intrahepatic cholestasisPFIC5progressive familial intrahepatic cholestasis caused by mutation in NR1H4