Heart Defects, Congenital, and Other Congenital Anomalies (HDCA)

Alias:

Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome

Pancreatic Agenesis and Congenital Heart Defects

Yorifuji-Okuno Syndrome

Pachd

Hdca

Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease

Congenital Pancreatic Hypoplasia with Diabetes Mellitus and Congenital Heart Disease

Congenital Pancreatic Agenesis with Diabetes Mellitus and Congenital Heart Disease

Heart Disease, Congenital, and Other Congenital Anomalies

Congenital Heart Defects and Other Congenital Anomalies

Yorifuji Okuno Syndrome

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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

先天性心脏病、先天性异常，又称胰腺发育不良-糖尿病-先天性心脏病综合征，与心室间隔缺损和心房间隔缺损有关。与先天性心脏病、先天性异常相关的基因是GATA6（GATA结合蛋白6），其相关通路/超级通路包括神经系统发育和葡萄糖/能量代谢。相关组织包括心脏和垂体，相关表型为房间隔缺损和外分泌胰腺功能不全。

Related ID：

MALACARDS：HRT039

OMIM：600001

MESH：D003920