VSD1
MCID: VNT028
MIFTS: 22

Ventricular Septal Defect 1 (VSD1)

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

Aliases & Classifications for Ventricular Septal Defect 1

MalaCards integrated aliases for Ventricular Septal Defect 1:

Name: Ventricular Septal Defect 1 58 76 30 13 6 74
Vsd1 58 76
Septal Defect, Ventricular, Type 1 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
ventricular septal defect 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614429
MeSH 45 D006345
MedGen 43 C3280777
UMLS 74 C3280777

Summaries for Ventricular Septal Defect 1

OMIM : 58 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 brain, heart and fetal brain, and related phenotypes are atrial septal defect and pulmonic stenosis

UniProtKB/Swiss-Prot : 76 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 11.1
2 ventricular septal defect 3 11.1
3 atrioventricular septal defect 9.5 AVSD1 GATA4

Symptoms & Phenotypes for Ventricular Septal Defect 1

Human phenotypes related to Ventricular Septal Defect 1:

33
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 33 occasional (7.5%) HP:0001631
2 pulmonic stenosis 33 occasional (7.5%) HP:0001642
3 ventricular septal defect 33 HP:0001629

Symptoms via clinical synopsis from OMIM:

58
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

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 30 GATA4

Anatomical Context for Ventricular Septal Defect 1

MalaCards organs/tissues related to Ventricular Septal Defect 1:

42
Brain, Heart, Fetal Brain

Publications for Ventricular Septal Defect 1

Variations for Ventricular Septal Defect 1

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

76
# 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 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 GATA4 NM_002052.4(GATA4): c.487C> T (p.Pro163Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs387906769 GRCh37 Chromosome 8, 11566308: 11566308
2 GATA4 NM_002052.4(GATA4): c.487C> T (p.Pro163Ser) single nucleotide variant Conflicting interpretations of pathogenicity 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.1220C> A (p.Pro407Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs115099192 GRCh37 Chromosome 8, 11615875: 11615875
8 GATA4 NM_002052.4(GATA4): c.1220C> A (p.Pro407Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs115099192 GRCh38 Chromosome 8, 11758366: 11758366
9 GATA4 NM_002052.4(GATA4): c.886G> C (p.Gly296Arg) single nucleotide variant Pathogenic rs104894073 GRCh37 Chromosome 8, 11607722: 11607722
10 GATA4 NM_002052.4(GATA4): c.886G> C (p.Gly296Arg) single nucleotide variant Pathogenic rs104894073 GRCh38 Chromosome 8, 11750213: 11750213
11 GATA4 NM_002052.4(GATA4): c.127C> T (p.Arg43Trp) single nucleotide variant Uncertain significance rs387906770 GRCh37 Chromosome 8, 11565948: 11565948
12 GATA4 NM_002052.4(GATA4): c.127C> T (p.Arg43Trp) single nucleotide variant Uncertain significance rs387906770 GRCh38 Chromosome 8, 11708439: 11708439
13 GATA4 NM_002052.4(GATA4): c.822C> T (p.Cys274=) single nucleotide variant Conflicting interpretations of pathogenicity rs55980825 GRCh37 Chromosome 8, 11607658: 11607658
14 GATA4 NM_002052.4(GATA4): c.822C> T (p.Cys274=) single nucleotide variant Conflicting interpretations of pathogenicity rs55980825 GRCh38 Chromosome 8, 11750149: 11750149

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

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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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