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Standards Ontologies Notations
progressive familial intrahepatic cholestasis

Summary
Synonym
  • PFIC; Byler disease
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
NCI Thesaurus
ORDO
OMIM
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
8482 SEMA7A semaphorin 7A (JohnMiltonHagen blood group)
23120 ATP10B ATPase phospholipid transporting 10B (putative)
26276 VPS33B VPS33B late endosome and lysosome associated
84936 ZFYVE19 zinc finger FYVE-type containing 19
200931 SLC51A solute carrier family 51 member A
Displaying all 3 entries
Gene ID Gene Symbol Description Source
11982 Atp10a ATPase, class V, type 10A
20361 Sema7a sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A
106407 Slc51a solute carrier family 51, alpha subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
315711 Sema7a semaphorin 7A (John Milton Hagen blood group)
Displaying 1 entry
Gene ID Gene Symbol Description Source
40070 CG6836 uncharacterized protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
447807 slc51a solute carrier family 51 member A
Displaying all 3 entries
Gene ID Gene Symbol Description Source
173966 osta-2 Organic solute transporter alpha-like protein 2
175140 osta-3 Organic solute transporter alpha-like protein 3
182062 osta-1 Organic solute transporter alpha-like protein 1
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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: December 9, 2024