Atrial Septal Defect 7 with or without Atrioventricular Conduction Defects

Alternative Names

  • ASD7
  • ASD with or without Atrioventricular Conduction Defects

Associated Genes

NK2 Homeobox 5
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

OMIM Number

108900

Mode of Inheritance

Autosomal dominant

Gene Map Locus

5q35.1

Description

ASD7 is a rare congenital cardiac disorder characterised by an abnormal opening in the septum dividing the upper chambers of the heart. The condition is caused by mutations in the NKX2-5 gene, which encodes a transcription factor involved in the differentiation and proliferation of cardiac muscle cells.  

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
108900.1.01LebanonMaleYesNo Atrial septal defectNM_004387.4:c.721_728delHeterozygousAutosomal, DominantAbou Hassan et al, 2015
108900.1.02LebanonMaleYesNo Atrial septal defectNM_004387.4:c.73C>T, NM_004387.4:c.721_728delHeterozygousAutosomal, DominantAbou Hassan et al, 2015 Brother of 108900.1....
108900.1.03LebanonMaleYesYes Atrial septal defectNM_004387.4:c.721_728delHeterozygousAutosomal, DominantAbou Hassan et al, 2015 Nephew of 108900.1.0...
108900.1.04LebanonMaleYesYes Atrial septal defectNM_004387.4:c.721_728delHeterozygousAutosomal, DominantAbou Hassan et al, 2015 Nephew of 108900.1.0...
108900.1.05LebanonFemaleYesNo Atrial septal defectNM_004387.4:c.721_728delHeterozygousAutosomal, DominantAbou Hassan et al, 2015 Niece of 108900.1.01
108900.1.06LebanonFemaleYesYes Atrial septal defectNM_004387.4:c.721_728delHeterozygousAutosomal, DominantAbou Hassan et al, 2015 Niece of 108900.1.01
108900.1.07LebanonFemaleYesYes Atrial septal defectNM_004387.4:c.721_728delHeterozygousAutosomal, DominantAbou Hassan et al, 2015 Niece of 108900.1.01
108900.1.08LebanonMaleYesYes Atrial septal defectNM_004387.4:c.721_728delHeterozygousAutosomal, DominantAbou Hassan et al, 2015 Nephew of 108900.1.0...
108900.1.09LebanonFemaleYesYes Atrial septal defectNM_004387.4:c.721_728delHeterozygousAutosomal, DominantAbou Hassan et al, 2015 Great-niece of 10890...
108900.1.10LebanonFemaleYesYes Atrial septal defectNM_004387.4:c.721_728delHeterozygousAutosomal, DominantAbou Hassan et al, 2015 Great-niece of 10890...
108900.2.1LebanonFemaleYesNo Atrial septal defectNM_004387.4:c.618delHeterozygousAutosomal, DominantAbou Hassan et al, 2015
108900.2.2LebanonFemaleYesNo Atrial septal defectNM_004387.4:c.618delHeterozygousAutosomal, DominantAbou Hassan et al, 2015 Sister of 108900.2.1
108900.2.3LebanonMaleYesNo Atrial septal defectNM_004387.4:c.618delHeterozygousAutosomal, DominantAbou Hassan et al, 2015 Uncle of 108900.2.1
108900.3.1LebanonMaleYesNo Atrial septal defectNM_004387.4:c.461A>GHeterozygousAutosomal, DominantAbou Hassan et al, 2015
108900.3.3LebanonMaleYesNo Atrial septal defectNM_004387.4:c.461A>GHeterozygousAutosomal, DominantAbou Hassan et al, 2015 Son of 108900.3.1
108900.4.1LebanonUnknownYes Atrial septal defectNM_004387.4:c.809G>AHeterozygousAutosomal, DominantAbou Hassan et al, 2015
108900.4.2LebanonUnknownYes Atrial septal defectNM_004387.4:c.809G>AHeterozygousAutosomal, DominantAbou Hassan et al, 2015 Sibling of 108900.4....
108900.5.1LebanonUnknownNo Atrial septal defectNM_004387.4:c.73C>THeterozygousAutosomal, DominantAbou Hassan et al, 2015
108900.5.2LebanonUnknownNo Atrial septal defectNM_004387.4:c.73C>THeterozygousAutosomal, DominantAbou Hassan et al, 2015
108900.5.3LebanonUnknownNo Atrial septal defectNM_004387.4:c.73C>THeterozygousAutosomal, DominantAbou Hassan et al, 2015
108900.5.4LebanonUnknownNo Atrial septal defectNM_004387.4:c.73C>THeterozygousAutosomal, DominantAbou Hassan et al, 2015
108900.5.5LebanonUnknownNo Atrial septal defectNM_004387.4:c.73C>THeterozygousAutosomal, DominantAbou Hassan et al, 2015
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