Details of Disease | DrugMAP

General Information of Disease (ID: DISZ25DZ)

Disease Name	NKX2.5-related congenital, conduction and myopathic heart disease
Synonyms	NKX2-5-related congenital, conduction and myopathic heart disease
Definition	A heart disease that includes congenital heart defects, abnormal cardiac conduction or myopathy. Congenital heart defects consists of any heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and hypoplastic left heart syndrome.
Disease Hierarchy	DISBA1TN: Familial cardiomyopathy DISLKUNL: Heart arrhythmia DISZ25DZ: NKX2.5-related congenital, conduction and myopathic heart disease

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NKX2-5	OTS1SAWM	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.