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12 Possible Causes for End Stage Liver Disease before Adulthood

  • Progressive Familial Intrahepatic Cholestasis

    PFIC patients usually develop fibrosis and end-stage liver disease before adulthood.[ncbi.nlm.nih.gov] PFIC1 and PFIC2 usually appear in the first months of life, whereas onset of PFIC3 may also occur later in infancy, in childhood or even during young adulthood.[ncbi.nlm.nih.gov] Prognosis PFIC patients usually develop fibrosis and end-stage liver disease before adulthood.[orpha.net]

  • Familial Hypercholanemia

    PFIC patients usually develop fibrosis and end-stage liver disease before adulthood.[blueprintgenetics.com] PFIC is a group of autosomal recessive liver disorders caused by defects in bile secretion and is characterized by intrahepatic cholestasis with disease onset usually in infancy[blueprintgenetics.com]

  • Cholestasis

    Patients usually develop fibrosis and end-stage liver disease before adulthood.[orpha.net]

  • Progressive Myoclonic Epilepsy Type 8

    PFIC patients usually develop fibrosis and end-stage liver disease before adulthood.2 Both PFIC1 and PFIC2 are caused by impaired bile salt secretion due to defects in ATP8B1[elsevier.es] PFIC1 and PFIC2 usually appear in the first months of life, whereas the onset of PFIC3 may arise later in infancy, in childhood or even during young adulthood.[elsevier.es]

  • Intrahepatic Cholestasis

    PFIC patients usually develop fibrosis and end-stage liver disease before adulthood.[preventiongenetics.com] The most recently identified PFIC4 is caused by abnormal tight junctions between adjacent hepatocytes and biliary canaliculi in liver tissue due to TJP2 defects (Sambrotta[preventiongenetics.com]

  • Progressive Retinal Dystrophy due to Retinol Transport Defect

    […] disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood ( Alonso et al., 1994 ;[mendelian.co] DISEASE; HDR Low match CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver[mendelian.co]

  • Promyelocytic Leukemia

    PFIC patients usually develop fibrosis and end-stage liver disease before adulthood.2 Both PFIC1 and PFIC2 are caused by impaired bile salt secretion due to defects in ATP8B1[elsevier.es] PFIC1 and PFIC2 usually appear in the first months of life, whereas the onset of PFIC3 may arise later in infancy, in childhood or even during young adulthood.[elsevier.es]

  • Progressive Familial Intrahepatic Cholestasis 4

    Format Definition A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.[uniprot.org] Patients usually develop fibrosis and end-stage liver disease before adulthood.[orpha.net] PFIC patients usually develop fibrosis and end-stage liver disease before adulthood[1]. Death from liver failure usually occurs if LTx is not performed[6].[ghrnet.org]

  • Benign Recurrent Intrahepatic Cholestasis

    Like the others, it begins prenatally, and progresses to hepatic fibrosis, cirrhosis, and end stage liver disease before adulthood.[wohproject.org] liver disease before adulthood.[genecards.org] Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage[genecards.org]

  • LPAC Syndrome Type 1

    PFIC patients usually develop fibrosis and end-stage liver disease before adulthood[1]. Death from liver failure usually occurs if LTx is not performed[6].[ghrnet.org] PFIC1 and PFIC2 usually appear in the first months of life, whereas PFIC3 occurs later in infancy, in childhood or even during young adulthood.[ghrnet.org]

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