cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
MONDO:0030503Mondo
Findings
No curated finding names cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 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
12 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
- Hepatic fibrosisHPOHP:0001395
- 4 of 4 reported patients
- PruritusHPOHP:0000989
- 3 of 3 reported patients
- Hearing impairmentHPOHP:0000365
- 2 of 3 reported patients
- HypocalcemiaHPOHP:0002901
- 2 of 3 reported patients
- SplenomegalyHPOHP:0001744
- 4 of 7 reported patients
- Hepatic bridging fibrosisHPOHP:0012852
- 1 of 4 reported patients
- Elevated circulating GABA concentrationHPOHP:0410053
- 0 of 7 reported patients
- JaundiceHPOHP:0000952
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.
- USP53HGNC:29255
- 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, 7, with or without hearing loss
- Also called
- PFIC7