MCID: VNT024
MIFTS: 18

Ventricular Septal Defect 3

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Ventricular Septal Defect 3

MalaCards integrated aliases for Ventricular Septal Defect 3:

Name: Ventricular Septal Defect 3 53 71 28 13 69
Vsd3 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
ventricular septal defect 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ventricular Septal Defect 3

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 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, and has symptoms including patent ductus arteriosus, atrial septal defect and ventricular septal defect. An important gene associated with Ventricular Septal Defect 3 is NKX2-5 (NK2 Homeobox 5). Affiliated tissues include brain, heart and fetal brain.

UniProtKB/Swiss-Prot : 71 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

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 artery stenosis (in some patients)
patent ductus arteriosus (in some patients)
aortic isthmus stenosis (in some patients)


Clinical features from OMIM:

614432

Human phenotypes related to Ventricular Septal Defect 3:

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

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 28 NKX2-5

Anatomical Context for Ventricular Septal Defect 3

MalaCards organs/tissues related to Ventricular Septal Defect 3:

38
Brain, Heart, Fetal Brain

Publications for Ventricular Septal Defect 3

Variations for Ventricular Septal Defect 3

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

71
# 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.175C> G (p.Pro59Ala) single nucleotide variant Pathogenic rs387906775 GRCh37 Chromosome 5, 172661912: 172661912
2 NKX2-5 NM_004387.3(NKX2-5): c.769C> G (p.Pro257Ala) single nucleotide variant Pathogenic rs387906776 GRCh37 Chromosome 5, 172659778: 172659778

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
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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