MCID: VNT024
MIFTS: 26

Ventricular Septal Defect 3

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Ventricular Septal Defect 3

MalaCards integrated aliases for Ventricular Septal Defect 3:

Name: Ventricular Septal Defect 3 54 24 71 29 13 69
Vsd3 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
ventricular septal defect 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ventricular Septal Defect 3

OMIM : 54
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 atrial septal defect, patent ductus arteriosus and ventricular septal defect. An important gene associated with Ventricular Septal Defect 3 is NKX2-5 (NK2 Homeobox 5). The drugs Bosentan and Enalapril have been mentioned in the context of this disorder. Affiliated tissues include heart, brain 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 3 Ventricular Septal Defect 2
Ventricular Septal Defect 1

Symptoms & Phenotypes for Ventricular Septal Defect 3

Symptoms via clinical synopsis from OMIM:

54

Cardiovascular- Vascular:
aortic isthmus stenosis (in some patients)
patent ductus arteriosus (in some patients)
pulmonary artery stenosis (in some patients)

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


Clinical features from OMIM:

614432

Human phenotypes related to Ventricular Septal Defect 3:

32
id Description HPO Frequency HPO Source Accession
1 atrial septal defect 32 occasional (7.5%) HP:0001631
2 patent ductus arteriosus 32 occasional (7.5%) HP:0001643
3 ventricular septal defect 32 HP:0001629
4 pulmonary artery stenosis 32 occasional (7.5%) HP:0004415

Drugs & Therapeutics for Ventricular Septal Defect 3

Drugs for Ventricular Septal Defect 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
2
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
3
Enalaprilat Approved Phase 3 76420-72-9 6917719
4 Antihypertensive Agents Phase 3
5 Endothelin Receptor Antagonists Phase 3
6 Angiotensin-Converting Enzyme Inhibitors Phase 3
7 HIV Protease Inhibitors Phase 3
8
protease inhibitors Phase 3
9
Milrinone Approved Phase 1, Phase 2 78415-72-2 4197
10 Phosphodiesterase 3 Inhibitors Phase 1, Phase 2
11 Phosphodiesterase 5 Inhibitors Phase 1, Phase 2
12 Phosphodiesterase Inhibitors Phase 1, Phase 2
13 Platelet Aggregation Inhibitors Phase 1, Phase 2
14 Protective Agents Phase 1, Phase 2
15 Sildenafil Citrate Phase 1, Phase 2 171599-83-0
16 Vasodilator Agents Phase 1, Phase 2
17 Citrate Nutraceutical Phase 1, Phase 2
18
Citric Acid Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
19
Nitric Oxide Approved Phase 1 10102-43-9 145068
20
Dexmedetomidine Approved, Vet_approved Phase 1 76631-46-4, 113775-47-6 68602 5311068 56032
21 Adrenergic Agents Phase 1
22 Adrenergic Agonists Phase 1
23 Adrenergic alpha-2 Receptor Agonists Phase 1
24 Adrenergic alpha-Agonists Phase 1
25 Analgesics Phase 1
26 Analgesics, Non-Narcotic Phase 1
27 Central Nervous System Depressants Phase 1
28 Hypnotics and Sedatives Phase 1
29 Neurotransmitter Agents Phase 1
30 Peripheral Nervous System Agents Phase 1
31 carnitine Nutraceutical Phase 1

Interventional clinical trials:

(show all 11)

id Name Status NCT ID Phase Drugs
1 Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest Completed NCT00000470 Phase 3
2 Bosentan for Mild Pulmonary Vascular Disease in Asd Patients. Completed NCT01218607 Phase 3 Bosentan;Placebo
3 Minimally Invasive Transthoracic Device Closure in Perimembranous Ventricular Septal Defect Recruiting NCT02644330 Phase 2, Phase 3
4 Safety and Effectiveness of the Nit-Occlud® Lê VSD Spiral Coil System Suspended NCT00390702 Phase 2, Phase 3
5 Angiotensin Converting Enzyme Inhibition in Children With Mitral Regurgitation Terminated NCT00113698 Phase 3 Enalapril
6 Oral Sildenafil and Intravenous Milrinone on Postoperative Pulmonary Hypertension Completed NCT02595541 Phase 1, Phase 2 milrinone;Sildenafil
7 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Unknown status NCT01825369 Phase 1 IV L-carnitine
8 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Recruiting NCT01915277 Phase 1 Dexmedetomidine
9 Right Bundle Branch Block After Surgical Closure of Ventricular Septal Defect Completed NCT01480908
10 Magnet Resonance Imaging to Evaluate of Dynamic T2 Preparation Puls by Patients With Shunt or Chronic Obstructive Pulmonary Disease Completed NCT02449083
11 The AMPLATZERâ„¢ Post-infarct Muscular VSD Occluder Humanitarian Device Exemption (H070005) The AMPLATZERâ„¢ Post-infarct Muscular VSD Occluder Humanitarian Device Exemption (H070005) Post Approval Study Not yet recruiting NCT03165526

Search NIH Clinical Center for Ventricular Septal Defect 3

Genetic Tests for Ventricular Septal Defect 3

Genetic tests related to Ventricular Septal Defect 3:

id Genetic test Affiliating Genes
1 Ventricular Septal Defect 3 29 24 NKX2-5

Anatomical Context for Ventricular Septal Defect 3

MalaCards organs/tissues related to Ventricular Septal Defect 3:

39
Heart, Brain, 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
id 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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