VSD3
MCID: VNT024
MIFTS: 24

Ventricular Septal Defect 3 (VSD3)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Ventricular Septal Defect 3

MalaCards integrated aliases for Ventricular Septal Defect 3:

Name: Ventricular Septal Defect 3 57 72 29 13 6 70
Vsd3 57 72
Septal, Ventricular Defect, Type 3 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
ventricular septal defect 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614432
OMIM Phenotypic Series 57 PS614429
MeSH 44 D006345
MedGen 41 C3280785
UMLS 70 C3280785

Summaries for Ventricular Septal Defect 3

OMIM® : 57 Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14 to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by 3,4:Wang et al., 2011, 2011). Other congenital cardiac defects caused by mutation in the NKX2-5 gene include atrial septal defect with or without atrioventricular conduction defects (ASD7; 108900), tetralogy of Fallot (see TOF, 187500), conotruncal malformations (see 217095), and hypoplastic left heart syndrome (HLHS2; 614435). For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (614429). (614432) (Updated 20-May-2021)

MalaCards based summary : Ventricular Septal Defect 3, also known as vsd3, is related to helix syndrome. An important gene associated with Ventricular Septal Defect 3 is NKX2-5 (NK2 Homeobox 5). Affiliated tissues include heart and fetal brain, and related phenotypes are atrial septal defect and patent ductus arteriosus

UniProtKB/Swiss-Prot : 72 Ventricular septal defect 3: A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death.

Related Diseases for Ventricular Septal Defect 3

Diseases in the Ventricular Septal Defect family:

Ventricular Septal Defect 1 Ventricular Septal Defect 2
Ventricular Septal Defect 3

Diseases related to Ventricular Septal Defect 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 helix syndrome 10.0

Symptoms & Phenotypes for Ventricular Septal Defect 3

Human phenotypes related to Ventricular Septal Defect 3:

31
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 31 occasional (7.5%) HP:0001631
2 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
3 pulmonary artery stenosis 31 occasional (7.5%) HP:0004415
4 ventricular septal defect 31 HP:0001629

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
ventricular septal defect
atrial septal defect (in some patients)
atrioventricular conduction defect (in some patients)

Cardiovascular Vascular:
patent ductus arteriosus (in some patients)
pulmonary artery stenosis (in some patients)
aortic isthmus stenosis (in some patients)

Clinical features from OMIM®:

614432 (Updated 20-May-2021)

Drugs & Therapeutics for Ventricular Septal Defect 3

Search Clinical Trials , NIH Clinical Center for Ventricular Septal Defect 3

Genetic Tests for Ventricular Septal Defect 3

Genetic tests related to Ventricular Septal Defect 3:

# Genetic test Affiliating Genes
1 Ventricular Septal Defect 3 29 NKX2-5

Anatomical Context for Ventricular Septal Defect 3

MalaCards organs/tissues related to Ventricular Septal Defect 3:

40
Heart, Fetal Brain

Publications for Ventricular Septal Defect 3

Articles related to Ventricular Septal Defect 3:

(show all 21)
# Title Authors PMID Year
1
A novel NKX2-5 mutation in familial ventricular septal defect. 6 57
21165553 2011
2
Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. 57 6
21110066 2010
3
A novel mutation of GATA4 in a familial atrial septal defect. 57 6
20659440 2010
4
A novel GATA4 mutation responsible for congenital ventricular septal defects. 57
21637914 2011
5
Congenital heart defects in molecularly proven Kabuki syndrome patients. 61
28884922 2017
6
Transesophageal echocardiography for incremental value of Amplatezer cribriform septal occluder for percutaneous transcatheter closure of complex septal defects: Case series. 61
28454791 2017
7
Draft Genome Sequence of Rhodococcus erythropolis VSD3, a Diesel Fuel-Degrading and Plant Growth-Promoting Bacterium Isolated from Hedera helix Leaves. 61
28232452 2017
8
Clinical analysis on application of color Doppler echocardiographic in cortriatrium diagnosis. 61
26400533 2015
9
Electrophysiology assessment and radiofrequency ablation of arrhythmias in adult patients with congenital heart defects: the Christchurch experience. 61
25228424 2014
10
Pentalogy of Cantrell: Forty-two Years of Experience in the Hospital Infantil de Mexico Federico Gomez. 61
23804974 2011
11
Incidences of micro-deletion/duplication 22q11.2 detected by multiplex ligation-dependent probe amplification in patients with congenital cardiac disease who are scheduled for cardiac surgery. 61
19224675 2009
12
[Safeguard and management of the heart vales in congenital heart disease procedure]. 61
14680562 2003
13
Reverse subclavian flap repair of hypoplastic transverse aorta in infancy. 61
11383795 2001
14
[Cardiac operation via subaxillary and anterolateral subaxillary thoracotomy with cardiopulmonary bypass]. 61
10374547 1997
15
Early sonographic diagnosis of fetal small left heart ventricle with a normal proximal outlet tract: a medical dilemma. 61
9110369 1997
16
Epidemiology of rheumatic and congenital heart diseases in school children. 61
1634785 1992
17
[Prenatal diagnosis of fetal cardiac disease with echocardiography. National Group for Fetal Echocardiography]. 61
1505274 1992
18
Noninvasive blood flow measurement and quantification of shunt volume by cine magnetic resonance in congenital heart disease. Preliminary results. 61
1594309 1992
19
25-year mortality after surgical repair of congenital heart defect in childhood. A population-based cohort study. 61
1744959 1991
20
[The effect of heart surgery during extracorporeal circulation and deep hypothermia on glucose metabolism in infants and young children]. 61
2695256 1989
21
Dysplasia of the tricuspid valve in the dog and cat. 61
134984 1976

Variations for Ventricular Septal Defect 3

ClinVar genetic disease variations for Ventricular Septal Defect 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NKX2-5 NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln) SNV Pathogenic 30115 rs375086983 GRCh37: 5:172659699-172659699
GRCh38: 5:173232696-173232696
2 NKX2-5 NM_004387.4(NKX2-5):c.175C>G (p.Pro59Ala) SNV Pathogenic 30116 rs387906775 GRCh37: 5:172661912-172661912
GRCh38: 5:173234909-173234909
3 NKX2-5 NM_004387.4(NKX2-5):c.769C>G (p.Pro257Ala) SNV Pathogenic 30117 rs387906776 GRCh37: 5:172659778-172659778
GRCh38: 5:173232775-173232775
4 NKX2-5 NM_004387.4(NKX2-5):c.824C>T (p.Pro275Leu) SNV Uncertain significance 410967 rs1060503097 GRCh37: 5:172659723-172659723
GRCh38: 5:173232720-173232720

UniProtKB/Swiss-Prot genetic disease variations for Ventricular Septal Defect 3:

72
# Symbol AA change Variation ID SNP ID
1 NKX2-5 p.Pro59Ala VAR_067586 rs387906775
2 NKX2-5 p.Pro283Gln VAR_067587 rs375086983

Expression for Ventricular Septal Defect 3

Search GEO for disease gene expression data for Ventricular Septal Defect 3.

Pathways for Ventricular Septal Defect 3

GO Terms for Ventricular Septal Defect 3

Sources for Ventricular Septal Defect 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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