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atrioventricular septal defect
Summary
- Synonym
-
- AVCD
- AVSD
- ECD
- atrioventricular canal defect
- endocardial cushion defect
- Definition
- A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.
- Super Class
- heart septal defect
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P43694 | Transcription factor GATA-4 | |
| Q96HD1 | Protein disulfide isomerase CRELD1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| E9Q7N9 | Dynein, axonemal, heavy chain 11 | |
| P21275 | Bone morphogenetic protein 4 | |
| Q922P9 | Cytokine-like nuclear factor N-PAC |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001962 | Palpitations |
| HP:0001633 | Abnormal mitral valve morphology |
| HP:0002326 | Transient ischemic attack |
| HP:0001279 | Syncope |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0002875 | Exertional dyspnea |
| HP:0001653 | Mitral regurgitation |
| HP:0000961 | Cyanosis |
| HP:0001708 | Right ventricular failure |
| HP:0002094 | Dyspnea |
