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progressive familial intrahepatic cholestasis 3

Summary
Synonym
  • MDR3 deficiency
  • PFIC3
  • progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase
Definition
A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12.
Super Class
autosomal recessive disease progressive familial intrahepatic cholestasis
External Links
Disease Ontology
DOID:0070223
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5244 ABCB4 ATP binding cassette subfamily B member 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
18670 Abcb4 ATP-binding cassette, sub-family B member 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
24891 Abcb4 ATP binding cassette subfamily B member 4
Displaying all 2 entries
Gene ID Gene Symbol Description Source
36428 Mdr49 Multi drug resistance 49
38726 Mdr65 Multi drug resistance 65
Displaying all 2 entries
Gene ID Gene Symbol Description Source
178215 pgp-1 Multidrug resistance protein pgp-1
181326 pgp-3 Multidrug resistance protein pgp-3
Displaying 1 entry
Gene ID Gene Symbol Description Source
853671 STE6 ATP-binding cassette a-factor transporter STE6
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: August 19, 2024