Tarp Syndrome (TARPS)

Tarp综合征(来自ICD-11)

别称:

Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence of the Left Superior Vena Cava Syndrome

Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome

Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome

Tarps

Pierre Robin Syndrome with Congenital Heart Malformation and Clubfoot

Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, and Persistence of Left Superior Vena Cava

Talipes Equinovarus Atrial Septal Defect Robin Sequence and Persistence of Left Superior Vena Cava

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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

Tarp 综合征，又称 talipes equinovarus-atrial septal defect-robin sequence-persistence of the left superior vena cava 综合征，与先天性马蹄内翻足、长骨缺乏或有无镜像多指和孤立性 Pierre Robin 综合征有关。Tarp 综合征相关的重要基因是 RBM10 (RNA 结合域蛋白 10)，其相关通路/超级通路包括处理含帽内含子的前 mRNA。相关组织包括心脏和舌，相关表型包括房间隔缺损和马蹄内翻足。

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