家族性高胆烷血症

Familial hypercholanemia

ORPHA:238475疾病

定义

家族性高胆固醇血症是一种非常罕见的遗传性疾病，临床上表现为血清胆汁酸浓度升高、瘙痒和脂肪吸收障碍（在阿米什人中被报道）。

遗传性高胆烷血症

基因	名称	关联类型
SLC10A5	solute carrier family 10 member 5	Disease-causing germline mutation(s) in
EPHX1	epoxide hydrolase 1	Disease-causing germline mutation(s) in
TJP2	tight junction protein 2	Disease-causing germline mutation(s) in
BAAT	bile acid-CoA:amino acid N-acyltransferase	Disease-causing germline mutation(s) in
SLC10A1	solute carrier family 10 member 1	Disease-causing germline mutation(s) in

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