MCID: VNT028
MIFTS: 22

Ventricular Septal Defect 1

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Ventricular Septal Defect 1

MalaCards integrated aliases for Ventricular Septal Defect 1:

Name: Ventricular Septal Defect 1 57 75 29 13 6 73
Vsd1 57 75
Septal Defect, Ventricular, Type 1 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ventricular septal defect 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614429
MedGen 42 C3280777
MeSH 44 D006345
UMLS 73 C3280777

Summaries for Ventricular Septal Defect 1

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 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. An important gene associated with Ventricular Septal Defect 1 is GATA4 (GATA Binding Protein 4). Affiliated tissues include fetal brain, heart and brain, and related phenotypes are ventricular septal defect and atrial septal defect

UniProtKB/Swiss-Prot : 75 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 9.0 AVSD1 GATA4

Symptoms & Phenotypes for Ventricular Septal Defect 1

Symptoms via clinical synopsis from OMIM:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 32 HP:0001629
2 atrial septal defect 32 occasional (7.5%) HP:0001631
3 pulmonic stenosis 32 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 29 GATA4

Anatomical Context for Ventricular Septal Defect 1

MalaCards organs/tissues related to Ventricular Septal Defect 1:

41
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:

75
# 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.487C> T (p.Pro163Ser) single nucleotide variant Pathogenic rs387906769 GRCh38 Chromosome 8, 11708799: 11708799
3 GATA4 NM_002052.4(GATA4): c.1075G> A (p.Glu359Lys) single nucleotide variant Pathogenic rs368489876 GRCh37 Chromosome 8, 11614521: 11614521
4 GATA4 NM_002052.4(GATA4): c.1075G> A (p.Glu359Lys) single nucleotide variant Pathogenic rs368489876 GRCh38 Chromosome 8, 11757012: 11757012
5 GATA4 NM_002052.4(GATA4): c.1325C> T (p.Ala442Val) single nucleotide variant Pathogenic rs146017816 GRCh37 Chromosome 8, 11615980: 11615980
6 GATA4 NM_002052.4(GATA4): c.1325C> T (p.Ala442Val) single nucleotide variant Pathogenic rs146017816 GRCh38 Chromosome 8, 11758471: 11758471
7 GATA4 NM_002052.4(GATA4): c.886G> C (p.Gly296Arg) single nucleotide variant Pathogenic rs104894073 GRCh37 Chromosome 8, 11607722: 11607722
8 GATA4 NM_002052.4(GATA4): c.886G> C (p.Gly296Arg) single nucleotide variant Pathogenic rs104894073 GRCh38 Chromosome 8, 11750213: 11750213

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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