Disease #05432 (PFIC (cholestasis, intrahepatic, familial, progressive (PFIC)))

Official abbreviation PFIC
Name cholestasis, intrahepatic, familial, progressive (PFIC)
OMIM ID -
Inheritance -
Individuals reported having this disease 6
Phenotype entries for this disease 5
Associated with 5 genes ABCB11, ABCB4, ATP8B1, NR1H4, TJP2
Associated tissues -
Disease features -
Remarks -


Individuals

6 entries on 1 page. Showing entries 1 - 6.
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00275554 - - - - yes - - - 0 - - PFIC - ABCB11, ABCB4, ATP8B1, DCDC2 DCDC2 1 1 Andreas Janecke
00307437 Fam10PatLP85 PubMed: Stalke 2018 - - - Germany - - 0 - - PFIC liver cirrhosis ABCB4 ABCB4 2 1 Johan den Dunnen
00307438 Fam11PatLP130 PubMed: Stalke 2018 - - - Germany - - 0 - - PFIC characteristic phenotype (cholestatic liver disease) ABCB4 ABCB4 2 1 Johan den Dunnen
00307439 Fam12PatLP17 PubMed: Stalke 2018 - - - Germany - - 0 - - PFIC characteristic phenotype (cholestatic liver disease, low gamma-glutamyltransferase) ABCB11 ABCB11 2 1 Johan den Dunnen
00307440 Fam13PatLP95 PubMed: Stalke 2018 - - - Germany - - 0 - - PFIC characteristic phenotype (cholestatic liver cirrhosis, low gamma-glutamyltransferase) ABCB11 ABCB11 1 1 Johan den Dunnen
00307441 Fam14PatLP12 PubMed: Stalke 2018 - - - Germany - - 0 - - PFIC characteristic phenotype (cholestatic liver cirrhosis, low gamma-glutamyltransferase) TJP2 TJP2 1 1 Johan den Dunnen
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