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
External Links
Related Genes
Displaying all 10 entries
Gene ID Gene Symbol Description Source
414 ARSD arylsulfatase D
1636 ACE angiotensin I converting enzyme
1717 DHCR7 7-dehydrocholesterol reductase
5130 PCYT1A phosphate cytidylyltransferase 1A, choline
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
51266 CLEC1B C-type lectin domain family 1 member B
55997 CFC1 cryptic, EGF-CFC family member 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024