MedGen

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]

The occurrence of an immune reaction against the organism's own cells or tissues. [from HPO]

Familial paroxysmal nonkinesigenic dyskinesia (PNKD) is characterized by unilateral or bilateral involuntary movements. Attacks are typically precipitated by coffee, tea, or alcohol; they can also be triggered by excitement, stress, or fatigue, or can be spontaneous. Attacks involve dystonic posturing with choreic and ballistic movements, may be accompanied by a preceding aura, occur while the individual is awake, and are not associated with seizures. Attacks last minutes to hours and rarely occur more than once per day. Attack frequency, duration, severity, and combinations of symptoms vary within and among families. Age of onset is typically in childhood or early teens but can be as late as age 50 years. [from GeneReviews]

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]

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]