progressive familial intrahepatic cholestasis type 1
Findings
No curated finding names progressive familial intrahepatic cholestasis type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.
Definition from the Mondo Disease Ontology (MONDO:0008892), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset
HPO, annotations 2026-09-02
Features
11 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.
- Conjugated hyperbilirubinemiaHPOHP:0002908
- 33 of 33 reported patients
- JaundiceHPOHP:0000952
- 33 of 33 reported patients
- HepatomegalyHPOHP:0002240
- 32 of 33 reported patients
- PruritusHPOHP:0000989
- 32 of 33 reported patients
- Short statureHPOHP:0004322
- 31 of 33 reported patients
- RicketsHPOHP:0002748
- 25 of 33 reported patients
- EpistaxisHPOHP:0000421
Genes
2 genes
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.
- ATP8B1HGNC:3706
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
- MYO5BHGNC:7603
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: progressive familial intrahepatic cholestasis type 1
- Also called
- Byler diseasecholestasis, progressive familial intrahepatic 1cholestasis, progressive familial intrahepatic, type 1FIC1 deficiencyPFIC1