Aortic Valve Disease 2 (AOVD2)

Alias:

Aortic Valve Stenosis

Aortic Stenosis

Rheumatic Aortic Stenosis

Rheumatic Aortic Valve Stenosis

Bicuspid Aortic Valve

Aovd2

Rheumatic Aortic Valve Stenosis with Insufficiency

Rheumatic Aortic Stenosis with Regurgitation

Rheumatic Aortic Stenosis with Incompetence

Rheumatic Aortic Valve Obstruction

Aortic Insufficiency with Stenosis

Aortic Valve Disease, Type 2

Rheumatic Aortic Obstruction

Rheumatic Aortic Stricture

Aortic Valve Regurgitation

Valvular Aortic Stenosis

Aortic Valve Obstruction

Aortic Valve Stricture

Obstructed Aorta Valve

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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

主动脉瓣疾病2，也称为主动脉瓣狭窄，与主动脉瓣功能不全和霍尔特-奥拉姆综合症有关。与主动脉瓣疾病2相关的基因是SMAD6（SMAD家族成员6），其相关通路/超级通路包括人类胚胎干细胞多能性和间充质干细胞和特异性标记物。在该疾病的背景下提到了普鲁泊福和氢氧化钴胺。相关组织包括心脏和内皮，相关表型为主动脉缩窄和主动脉钙化。

Related ID：

MALACARDS：ART101

OMIM：614823

MESH：D001024

ICD11：145623962