Biliary Atresia, Extrahepatic; Ehba

Description

Biliary atresia is a disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow. Untreated, the resulting cholestasis leads to progressive conjugated hyperbilirubinemia, cirrhosis, and hepatic failure (Bates et al., 1998). Most patients require liver transplantation within the first year of life (Leyva-Vega et al., 2010).See also Alagille syndrome (OMIM ), which includes biliary atresia as a feature.

Genes related to Biliary Atresia, Extrahepatic; Ehba

GPC1

Clinical Features

Top most frequent phenotypes and symptoms related to Biliary Atresia, Extrahepatic; Ehba

Hepatomegaly
Elevated hepatic transaminase
Jaundice
Cirrhosis
Bile duct proliferation
Portal fibrosis
Biliary atresia
Increased total bilirubin
Unconjugated hyperbilirubinemia
Acholic stools

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Incidence and onset information

— Based on the latest data available Biliary Atresia, Extrahepatic; Ehba have a estimated birth prevalence of 18.5 per 100k in Europe.

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Biliary Atresia, Extrahepatic; Ehba Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GLYPICAN1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. GPC1 Specificity 100 % Genes 100 %
GPC1. By Fulgent Genetics Fulgent Genetics in United States. GPC1 Specificity 100 % Genes 100 %

Alternate names

Biliary Atresia, Extrahepatic; Ehba Is also known as ;isolated atresia of bile ducts; non-syndromic biliary atresia.

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