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
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.
Accelerate your rare disease diagnosis with us
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.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3; SCAR3 LONG QT SYNDROME 2; LQT2 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; HLTS DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2