Details of Disease | DrugMAP

General Information of Disease (ID: DISQ5C5J)

Disease Name	Heart septal defect
Synonyms	septal defect; holes in the heart; congenital septal defect of heart; congenital septal defect; Cardiac septal defects
Definition	A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum.
Disease Hierarchy	DISQBA23: Congenital heart disease DISQ5C5J: Heart septal defect
Disease Identifiers	MONDO ID MONDO_0002078 MESH ID D006343 UMLS CUI C0018816 MedGen ID 6752 HPO ID HP:0001671 SNOMED CT ID 396351009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PCSK5	TTPFWHU	Limited	Biomarker	[1]
GATA4	TT1VDN2	moderate	Genetic Variation	[2]
MYBPC3	TT9WOBN	Strong	Genetic Variation	[3]
------------------------------------------------------------------------------------

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CRELD1	OTBSPZFP	Limited	Genetic Variation	[4]
KMT2D	OTTVHCLY	Limited	Genetic Variation	[5]
TBX5	OT70PISV	Limited	Genetic Variation	[6]
BVES	OT4GT1WC	moderate	Biomarker	[7]
CITED2	OT812TV7	moderate	Genetic Variation	[8]
ACTC1	OTJU04B1	Strong	Genetic Variation	[9]
HAND1	OTN4IPVV	Strong	Genetic Variation	[10]
MEIS2	OTG4ADLM	Strong	Genetic Variation	[11]
NREP	OT2AZPKK	Strong	Biomarker	[4]
SYT9	OT7S8WU0	Strong	Genetic Variation	[12]
------------------------------------------------------------------------------------


⏷ Show the Full List of 10 DOT(s)

References

1	VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5.Genes Dev. 2008 Jun 1;22(11):1465-77. doi: 10.1101/gad.479408.
2	Novel mutation of GATA4 gene in Kurdish population of Iran with nonsyndromic congenital heart septals defects.Congenit Heart Dis. 2018 Mar;13(2):295-304. doi: 10.1111/chd.12571. Epub 2018 Jan 28.
3	Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.Eur J Hum Genet. 2015 Jul;23(7):922-8. doi: 10.1038/ejhg.2014.211. Epub 2014 Oct 22.
4	Analysis of gene copy number variations in patients with congenital heart disease using multiplex ligation-dependent probe amplification.Anatol J Cardiol. 2018 Jul;20(1):9-15. doi: 10.14744/AnatolJCardiol.2018.70481.
5	Congenital heart defects in molecularly proven Kabuki syndrome patients.Am J Med Genet A. 2017 Nov;173(11):2912-2922. doi: 10.1002/ajmg.a.38417. Epub 2017 Sep 8.
6	Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children.Mol Genet Genomic Med. 2019 May;7(5):e612. doi: 10.1002/mgg3.612. Epub 2019 Mar 4.
7	Mutational and functional analysis of the BVES gene coding region in Chinese patients with non-syndromic tetralogy of Fallot.Int J Mol Med. 2013 Apr;31(4):899-903. doi: 10.3892/ijmm.2013.1275. Epub 2013 Feb 7.
8	Identification and functional analysis of CITED2 mutations in patients with congenital heart defects.Hum Mutat. 2005 Dec;26(6):575-82. doi: 10.1002/humu.20262.
9	Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.Eur Heart J. 2007 Aug;28(16):1953-61. doi: 10.1093/eurheartj/ehm239. Epub 2007 Jul 4.
10	HAND1 loss-of-function within the embryonic myocardium reveals survivable congenital cardiac defects and adult heart failure.Cardiovasc Res. 2020 Mar 1;116(3):605-618. doi: 10.1093/cvr/cvz182.
11	De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux. J Hum Genet. 2016 Sep;61(9):835-8. doi: 10.1038/jhg.2016.54. Epub 2016 May 26.
12	A genetic variant in a homocysteine metabolic gene that increases the risk of congenital cardiac septal defects in Han Chinese populations.IUBMB Life. 2017 Sep;69(9):700-705. doi: 10.1002/iub.1651.