VSD3
MCID: VNT024
MIFTS: 20

Ventricular Septal Defect 3 (VSD3)

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

Aliases & Classifications for Ventricular Septal Defect 3

MalaCards integrated aliases for Ventricular Septal Defect 3:

Name: Ventricular Septal Defect 3 58 76 30 13 6 74
Vsd3 58 76
Septal, Ventricular Defect, Type 3 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
ventricular septal defect 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ventricular Septal Defect 3

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 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)

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

UniProtKB/Swiss-Prot : 76 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

Symptoms & Phenotypes for Ventricular Septal Defect 3

Human phenotypes related to Ventricular Septal Defect 3:

33
# Description HPO Frequency HPO Source Accession
1 patent ductus arteriosus 33 occasional (7.5%) HP:0001643
2 atrial septal defect 33 occasional (7.5%) HP:0001631
3 pulmonary artery stenosis 33 occasional (7.5%) HP:0004415
4 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:
patent ductus arteriosus (in some patients)
pulmonary artery stenosis (in some patients)
aortic isthmus stenosis (in some patients)

Clinical features from OMIM:

614432

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 30 NKX2-5

Anatomical Context for Ventricular Septal Defect 3

MalaCards organs/tissues related to Ventricular Septal Defect 3:

42
Brain, Heart, Fetal Brain

Publications for Ventricular Septal Defect 3

Articles related to Ventricular Septal Defect 3:

# Title Authors Year
1
Draft Genome Sequence of Rhodococcus erythropolis VSD3, a Diesel Fuel-Degrading and Plant Growth-Promoting Bacterium Isolated from Hedera helix Leaves. ( 28232452 )
2017

Variations for Ventricular Septal Defect 3

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

76
# Symbol AA change Variation ID SNP ID
1 NKX2-5 p.Pro59Ala VAR_067586 rs387906775
2 NKX2-5 p.Pro283Gln VAR_067587 rs375086983

ClinVar genetic disease variations for Ventricular Septal Defect 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NKX2-5 NM_004387.3(NKX2-5): c.769C> G (p.Pro257Ala) single nucleotide variant Pathogenic rs387906776 GRCh37 Chromosome 5, 172659778: 172659778
2 NKX2-5 NM_004387.3(NKX2-5): c.848C> A (p.Pro283Gln) single nucleotide variant Uncertain significance rs375086983 GRCh37 Chromosome 5, 172659699: 172659699
3 NKX2-5 NM_004387.3(NKX2-5): c.848C> A (p.Pro283Gln) single nucleotide variant Uncertain significance rs375086983 GRCh38 Chromosome 5, 173232696: 173232696
4 NKX2-5 NM_004387.3(NKX2-5): c.175C> G (p.Pro59Ala) single nucleotide variant Pathogenic rs387906775 GRCh37 Chromosome 5, 172661912: 172661912
5 NKX2-5 NM_004387.3(NKX2-5): c.175C> G (p.Pro59Ala) single nucleotide variant Pathogenic rs387906775 GRCh38 Chromosome 5, 173234909: 173234909
6 NKX2-5 NM_004387.3(NKX2-5): c.769C> G (p.Pro257Ala) single nucleotide variant Pathogenic rs387906776 GRCh38 Chromosome 5, 173232775: 173232775
7 NKX2-5 NM_004387.3(NKX2-5): c.824C> T (p.Pro275Leu) single nucleotide variant Uncertain significance rs1060503097 GRCh38 Chromosome 5, 173232720: 173232720
8 NKX2-5 NM_004387.3(NKX2-5): c.824C> T (p.Pro275Leu) single nucleotide variant Uncertain significance rs1060503097 GRCh37 Chromosome 5, 172659723: 172659723

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....