Details of Disease | DrugMAP

General Information of Disease (ID: DISERMKS)

Disease Name	HAND2 related congenital heart defect
Synonyms	DHAND; HAND2 related congenital heart defect; Hed; bHLHa26; HAND2-related congenital heart defect; Thing2; HLH transcription factor HAND2; DHAND2
Definition	A heart disease that is present at birth caused by a variation in th HAND2 gene. Representative examples include tetralogy of fallot and ventricular septal defect.
Disease Hierarchy	DISMT2VZ: Cardiogenetic disease DISQBA23: Congenital heart disease DISERMKS: HAND2 related congenital heart defect

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
HAND2	OTCXYW4Y	Moderate	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.