cholestasis, progressive familial intrahepatic, 12
MONDO:0031040Mondo
Findings
No curated finding names cholestasis, progressive familial intrahepatic, 12 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
HPO, annotations 2026-09-02
Features
13 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
- 3 of 3 reported patients
- Conjugated hyperbilirubinemiaHPOHP:0002908
- 3 of 3 reported patients
- HyperbilirubinemiaHPOHP:0002904
- 3 of 3 reported patients
- ProteinuriaHPOHP:0000093
- 3 of 3 reported patients
- PruritusHPOHP:0000989
- 3 of 3 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 2 of 3 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 2 of 3 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 3 reported patients
- JaundiceHPOHP:0000952
- 2 of 3 reported patients
- Prolonged partial thromboplastin timeHPOHP:0003645
- 2 of 3 reported patients
- SplenomegalyHPOHP:0001744
- 2 of 3 reported patients
- Increased serum bile acid concentrationHPOHP:0012202
- 1 of 3 reported patients
Show the remaining 1
- Short statureHPOHP:0004322
- 1 of 3 reported patients
Where it sits
Other names
2 names
Resolves to: cholestasis, progressive familial intrahepatic, 12
- Also called
- cholestasis, isolated low-ggtPFIC12