Open AccessAlagille syndrome associated with total anomalous pulmonary venous connection and severe xanthomas: A case report
Author(s) -
HanShi Zeng,
ZhanHui Zhang,
Yan Hu,
Guilang Zheng,
Jing Wang,
Jingwen Zhang,
Yuxiong Guo
Publication year - 2022
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v10.i25.8932
Subject(s) - alagille syndrome , medicine , jag1 , cholestasis , jaundice , gastroenterology , bilirubin , intrahepatic bile ducts , pathology , bile duct , notch signaling pathway , receptor
Alagille syndrome (ALGS) is an autosomal dominant genetic disorder caused by mutations in the JAG1 or NOTCH2 gene. It is characterized by decreased intrahepatic bile ducts associated with a variety of abnormalities in many other organ systems, such as the cardiovascular, skeletal, and urinary systems.