Arthrogryposis, Renal Dysfunction, and Cholestasis 1 (ARCS1)

关节挛缩-肾功能不全-胆汁淤积症1型(来自ICD-11)

别称:

Arc Syndrome

Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

Arcs1

Arthrogryposis Renal Dysfunction Cholestasis Syndrome

Arcs

Arthrogryposis with Renal Dysfunction and Cholestasis Syndrome

Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome

Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome 1

Arthrogryposis, Renal Dysfunction, Cholestasis, Type 1

Arthrogryposis, Renal Dysfunction, and Cholestasis

Arthrogryposis Renal Dysfunction and Cholestasis 1

Arthrogryposis-Renal Dysfunction-Cholestasis

Renal Insufficiency

Kidney Failure

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Arthrogryposis, Renal Dysfunction, and Cholestasis 1，也被称为 arc 综合征，与 arthrogryposis, renal dysfunction, and cholestasis 2 以及 progressive familial intrahepatic cholestasis 有关，其症状包括黄疸。与 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 有关的重要基因是 VPS33B (VPS33B Late Endosome And Lysosome Associated)，其相关通路/超通路包括蛋白质代谢和 WNT 信号传导。在该疾病的背景下，已提到的药物有 Digoxin 和 Ursodeoxycholic acid。相关组织包括肾脏和肝脏，相关表型为肾源性糖尿病和脑回缺失。

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