MedGen

An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration. [from ORDO]

A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential with a variable interval of up to several years. Age of onset, gender predisposition and clinical phenotype vary between each of the diseases. The clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia and pruritus to established cirrhosis and decompensation or also acute fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common. [from SNOMEDCT_US]

Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by Kaplan, 1996). For a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 (109720). [from OMIM]

Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by Kaplan, 1996). For a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 (109720). [from OMIM]

Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by Kaplan, 1996). For a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 (109720). [from OMIM]

Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by Kaplan, 1996). For a discussion of genetic heterogeneity of primary biliary cirrhosis (PBC), see PBC1 (109720). [from OMIM]

Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease. [from HPO]

A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. [from HPO]

Impairment of bile flow due to obstruction in the small bile ducts within the liver. [from HPO]

Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (summary by Kaplan, 1996). Genetic Heterogeneity of Primary Biliary Cirrhosis Primary biliary cirrhosis-1 (PBC1) is significantly associated with SNPs at the IL12A locus (161560) on chromosome 3q25.33. Significant association of PBC has also been shown with SNPs at the HLA-DQB1 locus (604305) on chromosome 6p21.3 (PBC2; 613007), at the IL12RB2 locus (601642) on chromosome 1p31.2 (PBC3; 613008), at the IRF5 (607218)-TNPO3 (610032) locus on chromosome 7q32 (PBC4; 614220), and at the ZPBP2 locus (608499) on chromosome 17q12-q21 (PBC5; 614221). See also Reynolds syndrome (613471), in which primary biliary cirrhosis is a feature. [from OMIM]

A non-neoplastic or neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples of non-neoplastic disorders include cholangitis and biliary atresia. Representative examples of neoplastic disorders include extrahepatic bile duct adenoma and cholangiocarcinoma. [from NCI]

Impairment of bile flow due to obstruction in bile ducts. [from HPO]