Individual #00054818

ID_report -
Reference PubMed: de Vree 1998
Remarks 2-generation family, affected boy, unaffected heterozygous carrier parents
Gender M
Consanguinity yes
Country Turkey
Population -
Age at death >06y (later than 6 years)
VIP 0
Data_av -
Treatment orthotopic liver transplantation
Panel size 1
Diseases PFIC3
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

cholestasis, intrahepatic, familial, progressive, type 3 (PFIC-3) (PFIC3)   Add phenotype for this disease

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Owner     
0000041472 3m-recurrent bouts of jaundice, presented with severe icterus, diarrhea, fever, pruritus; 3y-hepatosplenomegaly, elevated serum liver enzymes, increased Ī³-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 - - Isolated (sporadic) - - 00y03m - - Johan den Dunnen



Screenings


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Owner     
0000054767 DNA;RNA RT-PCR;SEQ;SSCA liver biopsy - ABCB4 1 Johan den Dunnen



Variants

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Chr     

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Effect     

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AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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Protein level     
7 Both (homozygous) +/+ - pathogenic g.87082397_87082403del g.87453081_87453087del codon 132 TATATACdel - ABCB4_000001 antibody liver absence of canalicular staining PubMed: de Vree 1998, OMIM:var0001 - rs387906526 Germline yes - - 0 - Johan den Dunnen ABCB4 - - - - - 6 NM_018849.2:c.394_400del - r.394_400del p.Tyr132Lysfs*29 - - - - - - - - - - - - - - - - - - -
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