DISEASE: North American Indian childhood cirrhosis
エントリ
H02194
名称
North American Indian childhood cirrhosis
概要
North American Indian childhood cirrhosis (NAIC) is a severe autosomal-recessive intrahepatic cholestasis found in aboriginal children from northwestern Quebec. It typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. It has reported that a missense mutation in Cirhin causes NAIC. Cirhin/UTP4 is known to be required for ribosome biogenesis.
カテゴリ
消化器系疾患
階層分類
ICD-11 による疾患分類 [BR:jp08403]
13 消化器系の疾患
肝疾患
DB93 肝線維症または肝硬変
H02194 North American Indian childhood cirrhosis
