cholestasis, progressive familial intrahepatic, 10
MONDO:0030810Mondo
Findings
No curated finding names cholestasis, progressive familial intrahepatic, 10 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 · Childhood onset
HPO, annotations 2026-09-02
Features
16 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.
- Conjugated hyperbilirubinemiaHPOHP:0002908
- 4 of 4 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 5 of 5 reported patients
- Increased serum bile acid concentrationHPOHP:0012202
- 4 of 4 reported patients
- Increased total bilirubinHPOHP:0003573
- 5 of 5 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 4 of 5 reported patients
- HepatomegalyHPOHP:0002240
- 4 of 5 reported patients
- JaundiceHPOHP:0000952
- 4 of 5 reported patients
- Portal fibrosisHPOHP:0006580
- 2 of 3 reported patients
- PruritusHPOHP:0000989
- 3 of 5 reported patients
- HypoalbuminemiaHPOHP:0003073
- 2 of 4 reported patients
- HypercholesterolemiaHPOHP:0003124
- 1 of 4 reported patients
- Acholic stoolsHPOHP:0011985
- 1 of 5 reported patients
Show the remaining 4
- Failure to thriveHPOHP:0001508
- 1 of 5 reported patients
- Short statureHPOHP:0004322
- 1 of 5 reported patients
- SplenomegalyHPOHP:0001744
- 1 of 5 reported patients
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 0 of 5 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.
- MYO5BHGNC:7603
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
1 name
Resolves to: cholestasis, progressive familial intrahepatic, 10
- Also called
- PFIC10