cholestasis, progressive familial intrahepatic, 11
MONDO:0030815Mondo
Findings
No curated finding names cholestasis, progressive familial intrahepatic, 11 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
6 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.
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 1 reported patient
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 1 reported patient
- Increased serum bile acid concentrationHPOHP:0012202
- 1 of 1 reported patient
- Abnormal circulating bilirubin concentrationHPOHP:0033479
- 0 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 0 of 1 reported patient
- PruritusHPOHP:0000989
- 0 of 1 reported patient
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.
- SEMA7AHGNC:10741
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: cholestasis, progressive familial intrahepatic, 11
- Also called
- PFIC11