cholestasis, progressive familial intrahepatic, 9
MONDO:0030800Mondo
Findings
No curated finding names cholestasis, progressive familial intrahepatic, 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Childhood 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.
- Fibro-obliterative bile-duct lesionHPOHP:0034328
- 3 of 3 reported patients
- HepatomegalyHPOHP:0002240
- 9 of 9 reported patients
- Malformation of the hepatic ductal plateHPOHP:0006563
- 7 of 9 reported patients
- SplenomegalyHPOHP:0001744
- 7 of 9 reported patients
- Portal hypertensionHPOHP:0001409
- 4 of 9 reported patients
- JaundiceHPOHP:0000952
- 3 of 9 reported patients
- DiarrheaHPOHP:0002014
- 2 of 9 reported patients
- FeverHPOHP:0001945
- 2 of 9 reported patients
- Intrahepatic cholestasisHPOHP:0001406
- 2 of 9 reported patients
- Micronodular cirrhosisHPOHP:0001413
- 1 of 9 reported patients
- PruritusHPOHP:0000989
- 1 of 9 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.
- ZFYVE19HGNC:20758
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: cholestasis, progressive familial intrahepatic, 9
- Also called
- PFIC9