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MIRAGE
progressive familial intrahepatic cholestasis

Summary
Synonym
  • Byler disease
  • PFIC
Definition
An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.
Super Class
intrahepatic cholestasis
Disease Ontology
DOID:0070221
UMLS
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ORDO
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
8482 SEMA7A semaphorin 7A (JohnMiltonHagen blood group)
26276 VPS33B VPS33B late endosome and lysosome associated
84936 ZFYVE19 zinc finger FYVE-type containing 19
200931 SLC51A solute carrier family 51 member A
Related Glycoprotein
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025