Disease #02418

Official abbreviation PFIC-3
Name cholestasis, intrahepatic, familial, progressive, type 3 (PFIC-3)
OMIM ID 602347
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene ABCB4
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Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00054818 - PubMed: de Vree 1998 2-generation family, affected boy, unaffected heterozygous carrier parents M yes Turkey - >06y 0 - orthotopic liver transplantation PFIC-3 3m-recurrent bouts of jaundice, presented with severe icterus, diarrhea, fever, pruritus; 3y-hepatosplenomegaly, elevated serum liver enzymes, increased γ-GT activity (6x), high serum bile acid concentration (50 x)., prothrombin time 0.50 (normal >0.70); liver biopsy revealed nonspecific portal inflammation, extensive portal fibrosis, cirrhosis, no response to UDCA treatment; 3.5y orthotopic liver transplantation for complications liver cirrhosis, extrahepatic bile ducts patent at time liver transplantation; 6y good clinical condition ABCB4 ABCB4 1 1 Johan den Dunnen
00054819 - PubMed: de Vree 1998 2-generation family, 1 affected, unaffected heterozygous carrier first-cousin parents M yes France African, north >09y 0 - liver transplantation PFIC-3 8m recurrent episodes severe pruritus; 3y hepatosplenomegaly, strongly increased serum γ-GT activity (38x), increased serum bile acids (16x), serum aspartate and alanine aminotransferase activities mildly elevated, prothrombin time 0.10 (normalized after vitamin K1 injection); liver histology ductular proliferation, extensive portal fibrosis; cholangiography normal intra-/extrahepatic bile ducts; 4y-UDCA treatment ineffective, liver enzymes and liver histology further deteriorated toward end-stage liver disease with ascites and severe jaundice; 9y-liver transplantation, now good clinical condition ABCB4 ABCB4 1 1 Johan den Dunnen
00054853 - PubMed: Jacquemin 1999, Journal: Jacquemin 1999 4-generation family, 1 affected, 2 unaffected heterozygous carrier males, 4 heterozygous carrier females F yes France - >06y 0 - liver transplantation PFIC-3 PFIC; 6y received liver graft ABCB4 ABCB4 1 5 Johan den Dunnen
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