progressive familial intrahepatic cholestasis
Findings
No curated finding names progressive familial intrahepatic cholestasis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.
Definition from the Mondo Disease Ontology (MONDO:0015762), read 2026-09-29. CC BY 4.0.
Features
14 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.
- Abnormality of coagulationHPOHP:0001928
- Very frequent (80% to 99% of cases)
- CholestasisHPOHP:0001396
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- JaundiceHPOHP:0000952
- Very frequent (80% to 99% of cases)
- MalabsorptionHPOHP:0002024
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- SplenomegalyHPOHP:0001744
- Very frequent (80% to 99% of cases)
- Abnormality of thrombocytesHPOHP:0001872
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Frequent (30% to 79% of cases)
- HypocalcemiaHPOHP:0002901
- Frequent (30% to 79% of cases)
Show the remaining 2
- Reduced bone mineral densityHPOHP:0004349
- Frequent (30% to 79% of cases)
- NeoplasmHPOHP:0002664
- Occasional (5% to 29% of cases)
Genes
3 genes
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.
Where it sits
- Narrower terms (16)
- benign recurrent intrahepatic cholestasis type 1
- cholestasis, progressive familial intrahepatic, 10
- cholestasis, progressive familial intrahepatic, 11
- cholestasis, progressive familial intrahepatic, 12
- cholestasis, progressive familial intrahepatic, 13
- cholestasis, progressive familial intrahepatic, 4
- cholestasis, progressive familial intrahepatic, 5
- cholestasis, progressive familial intrahepatic, 6
- cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
- cholestasis, progressive familial intrahepatic, 8
- cholestasis, progressive familial intrahepatic, 9
- hereditary North American Indian childhood cirrhosis
- MYO5B-related progressive familial intrahepatic cholestasis
- progressive familial intrahepatic cholestasis type 1
Other names
2 names
Resolves to: progressive familial intrahepatic cholestasis
- Also called
- cholestasis, progressive familial intrahepaticPFIC