cholestasis, progressive familial intrahepatic, 8
MONDO:0030505Mondo
Findings
No curated finding names cholestasis, progressive familial intrahepatic, 8 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
- Infantile onset · Juvenile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
19 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.
- CholestasisHPOHP:0001396
- 7 of 7 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 3 of 3 reported patients
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 3 of 3 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 3 of 3 reported patients
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 13 of 13 reported patients
- Increased serum bile acid concentrationHPOHP:0012202
- 3 of 3 reported patients
- JaundiceHPOHP:0000952
- 3 of 3 reported patients
- Bile duct proliferationHPOHP:0001408
- 4 of 5 reported patients
- Hepatic fibrosisHPOHP:0001395
- 4 of 5 reported patients
- Conjugated hyperbilirubinemiaHPOHP:0002908
- 2 of 3 reported patients
- Elevated circulating alpha-fetoprotein concentrationHPOHP:0006254
- 2 of 3 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 3 reported patients
Show the remaining 7
- PruritusHPOHP:0000989
- 4 of 6 reported patients
- Hepatic bridging fibrosisHPOHP:0012852
- 1 of 2 reported patients
- CirrhosisHPOHP:0001394
- 3 of 7 reported patients
- HypercholesterolemiaHPOHP:0003124
- 1 of 3 reported patients
- Esophageal varixHPOHP:0002040
- 1 of 4 reported patients
- Portal hypertensionHPOHP:0001409
- 1 of 4 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.
- KIF12HGNC:21495
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
Other names
1 name
Resolves to: cholestasis, progressive familial intrahepatic, 8
- Also called
- PFIC8