NKX2-5-related congenital heart disease
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
congenital heart disease
|
| gptkbp:alternativeName |
NKX2-5-related CHD
|
| gptkbp:associatedWith |
gptkb:arrhythmia
gptkb:Ebstein_anomaly gptkb:tetralogy_of_Fallot |
| gptkbp:diagnosedBy |
genetic testing
echocardiography |
| gptkbp:firstDescribed |
1998
|
| gptkbp:hasInheritanceRisk |
50% for first-degree relatives
|
| https://www.w3.org/2000/01/rdf-schema#label |
NKX2-5-related congenital heart disease
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
chromosome 5q35.1
|
| gptkbp:managedBy |
pacemaker implantation
cardiology follow-up |
| gptkbp:mutationAssociatedWith |
NKX2-5 gene
|
| gptkbp:OMIM |
600584
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:atrial_septal_defect
gptkb:ventricular_septal_defect conduction defect |
| gptkbp:bfsParent |
gptkb:NKX2-5
|
| gptkbp:bfsLayer |
7
|