MCID: VNT028
MIFTS: 21

Ventricular Septal Defect 1

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Ventricular Septal Defect 1

MalaCards integrated aliases for Ventricular Septal Defect 1:

Name: Ventricular Septal Defect 1 53 71 28 13 69
Vsd1 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
ventricular septal defect 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 614429
MedGen 39 C3280777
MeSH 41 D006345
UMLS 69 C3280777

Summaries for Ventricular Septal Defect 1

OMIM : 53 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 GATA4 gene include atrial septal defect (ASD2; 607941), tetralogy of Fallot (see TOF, 187500), and endocardial cushion defects (AVSD4; 614430). (614429)

MalaCards based summary : Ventricular Septal Defect 1, also known as vsd1, is related to ventricular septal defect 2 and ventricular septal defect 3, and has symptoms including ventricular septal defect, atrial septal defect and pulmonic stenosis. An important gene associated with Ventricular Septal Defect 1 is GATA4 (GATA Binding Protein 4). Affiliated tissues include fetal brain, heart and brain.

UniProtKB/Swiss-Prot : 71 Ventricular septal defect 1: 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 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ventricular septal defect 2 10.9
2 ventricular septal defect 3 10.9
3 atrioventricular septal defect 9.4 AVSD1 GATA4

Symptoms & Phenotypes for Ventricular Septal Defect 1

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
ventricular septal defect
atrial septal defect (in some patients)
atrioventricular conduction defect (in some patients)

Cardiovascular Vascular:
pulmonary stenosis (in some patients)


Clinical features from OMIM:

614429

Human phenotypes related to Ventricular Septal Defect 1:

31
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 31 HP:0001629
2 atrial septal defect 31 occasional (7.5%) HP:0001631
3 pulmonic stenosis 31 occasional (7.5%) HP:0001642

Drugs & Therapeutics for Ventricular Septal Defect 1

Search Clinical Trials , NIH Clinical Center for Ventricular Septal Defect 1

Genetic Tests for Ventricular Septal Defect 1

Genetic tests related to Ventricular Septal Defect 1:

# Genetic test Affiliating Genes
1 Ventricular Septal Defect 1 28 GATA4

Anatomical Context for Ventricular Septal Defect 1

MalaCards organs/tissues related to Ventricular Septal Defect 1:

38
Fetal Brain, Heart, Brain

Publications for Ventricular Septal Defect 1

Variations for Ventricular Septal Defect 1

UniProtKB/Swiss-Prot genetic disease variations for Ventricular Septal Defect 1:

71
# Symbol AA change Variation ID SNP ID
1 GATA4 p.Ala6Val VAR_067605 rs199922907
2 GATA4 p.Arg43Trp VAR_067606 rs387906770
3 GATA4 p.Gly296Arg VAR_067613 rs104894073
4 GATA4 p.Glu359Lys VAR_067617 rs368489876
5 GATA4 p.Ser429Thr VAR_067622
6 GATA4 p.Ala442Val VAR_067623 rs146017816

ClinVar genetic disease variations for Ventricular Septal Defect 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GATA4 NM_002052.4(GATA4): c.487C> T (p.Pro163Ser) single nucleotide variant Pathogenic rs387906769 GRCh37 Chromosome 8, 11566308: 11566308
2 GATA4 NM_002052.4(GATA4): c.1075G> A (p.Glu359Lys) single nucleotide variant Pathogenic rs368489876 GRCh37 Chromosome 8, 11614521: 11614521
3 GATA4 NM_002052.4(GATA4): c.1325C> T (p.Ala442Val) single nucleotide variant Pathogenic rs146017816 GRCh37 Chromosome 8, 11615980: 11615980
4 GATA4 NM_002052.4(GATA4): c.886G> C (p.Gly296Arg) single nucleotide variant Pathogenic rs104894073 GRCh37 Chromosome 8, 11607722: 11607722
5 GATA4 NM_002052.4(GATA4): c.127C> T (p.Arg43Trp) single nucleotide variant Pathogenic rs387906770 GRCh37 Chromosome 8, 11565948: 11565948

Expression for Ventricular Septal Defect 1

Search GEO for disease gene expression data for Ventricular Septal Defect 1.

Pathways for Ventricular Septal Defect 1

GO Terms for Ventricular Septal Defect 1

Sources for Ventricular Septal Defect 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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