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

Heart Defects, Congenital, and Other Congenital Anomalies(来自ICD-11)
别称:
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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Heart Defects, Congenital, and Other Congenital Anomalies, also known as pancreatic hypoplasia-diabetes-congenital heart disease syndrome, is related to heart septal defect and ventricular septal defect. An important gene associated with Heart Defects, Congenital, and Other Congenital Anomalies is GATA6 (GATA Binding Protein 6), and among its related pathways/superpathways are Nervous system development and Glucose / Energy Metabolism. Affiliated tissues include heart and pituitary, and related phenotypes are atrial septal defect and exocrine pancreatic insufficiency
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基础信息

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参考文献
MALACARDS
AR
AD
All ages
<1/1000000
20
318
8

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靶点药物

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MGI
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