VSD3
MCID: VNT024
MIFTS: 25

Ventricular Septal Defect 3 (VSD3) malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Ventricular Septal Defect 3

Aliases & Descriptions for Ventricular Septal Defect 3:

Name: Ventricular Septal Defect 3 54 24 66 29 13 69
Vsd3 66

Characteristics:

HPO:

32
ventricular septal defect 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614432
MedGen 40 C3280785
MeSH 42 D006345

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%... (614432) more...

MalaCards based summary : Ventricular Septal Defect 3, also known as vsd3, is related to ventricular septal defect 1, and has symptoms including patent ductus arteriosus, ventricular septal defect and pulmonary artery stenosis. An important gene associated with Ventricular Septal Defect 3 is NKX2-5 (NK2 Homeobox 5). The drugs Bosentan and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and fetal brain.

UniProtKB/Swiss-Prot : 66 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

Diseases related to Ventricular Septal Defect 3 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 ventricular septal defect 1 10.9

Symptoms & Phenotypes for Ventricular Septal Defect 3

Symptoms by clinical synopsis from OMIM:

614432

Clinical features from OMIM:

614432

Human phenotypes related to Ventricular Septal Defect 3:

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

Drugs & Therapeutics for Ventricular Septal Defect 3

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

(show all 33)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
2
Dexmedetomidine Approved, Vet_approved Phase 3,Phase 1 76631-46-4, 113775-47-6 68602 5311068 56032
3
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
4
Enalaprilat Approved Phase 3 76420-72-9 6917719
5 Analgesics Phase 3,Phase 1
6 Adrenergic Agents Phase 3,Phase 1
7 Adrenergic Agonists Phase 3,Phase 1
8 Adrenergic alpha-2 Receptor Agonists Phase 3,Phase 1
9 Adrenergic alpha-Agonists Phase 3,Phase 1
10 Neurotransmitter Agents Phase 3,Phase 1
11 Analgesics, Non-Narcotic Phase 3,Phase 1
12 Peripheral Nervous System Agents Phase 3,Phase 1
13 Endothelin Receptor Antagonists Phase 3
14 Hypnotics and Sedatives Phase 3,Phase 1
15 Antihypertensive Agents Phase 3
16 Central Nervous System Depressants Phase 3,Phase 1
17
protease inhibitors Phase 3
18 HIV Protease Inhibitors Phase 3
19 Angiotensin-Converting Enzyme Inhibitors Phase 3
20
Milrinone Approved Phase 1, Phase 2 78415-72-2 4197
21 Sildenafil Citrate Phase 1, Phase 2 171599-83-0
22 Vasodilator Agents Phase 1, Phase 2
23 Phosphodiesterase 3 Inhibitors Phase 1, Phase 2
24 Phosphodiesterase 5 Inhibitors Phase 1, Phase 2
25 Phosphodiesterase Inhibitors Phase 1, Phase 2
26 Platelet Aggregation Inhibitors Phase 1, Phase 2
27 Protective Agents Phase 1, Phase 2
28 Citrate Nutraceutical Phase 1, Phase 2
29
Citric Acid Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
30
Nitric Oxide Approved Phase 1 10102-43-9 145068
31 carnitine Nutraceutical Phase 1
32 diuretics
33 Tin Fluorides

Interventional clinical trials:

(show all 17)
id Name Status NCT ID Phase
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
3 The Pharmacology and Hemodynamics of Dexmedetomidine in Children With Congenital Heart Disease Completed NCT00480740 Phase 3
4 Minimally Invasive Transthoracic Device Closure in Perimembranous Ventricular Septal Defect Recruiting NCT02644330 Phase 2, Phase 3
5 Safety and Effectiveness of the Nit-Occlud® Lê VSD Spiral Coil System Suspended NCT00390702 Phase 2, Phase 3
6 Angiotensin Converting Enzyme Inhibition in Children With Mitral Regurgitation Terminated NCT00113698 Phase 3
7 Oral Sildenafil and Intravenous Milrinone on Postoperative Pulmonary Hypertension Completed NCT02595541 Phase 1, Phase 2
8 Left Ventricular Septum Pacing in Patients by Transvenous Approach Through the Inter-ventricular Septum Completed NCT01609738 Phase 1, Phase 2
9 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Unknown status NCT01825369 Phase 1
10 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Recruiting NCT01915277 Phase 1
11 Pivotal Study of a Percutaneous Mitral Valve Repair System Unknown status NCT00209274
12 Right Bundle Branch Block After Surgical Closure of Ventricular Septal Defect Completed NCT01480908
13 Magnet Resonance Imaging to Evaluate of Dynamic T2 Preparation Puls by Patients With Shunt or Chronic Obstructive Pulmonary Disease Completed NCT02449083
14 EVEREST II Pivotal Study High Risk Registry (HRR) Completed NCT01940120
15 MitraClip® and Hemodynamic Effects of Relevant Iatrogenic Atrial Septum Defect Closure Recruiting NCT03024268
16 Stress Echo 2020 - The International Stress Echo Study Recruiting NCT03049995
17 The AMPLATZER™ Post-infarct Muscular VSD Occluder Humanitarian Device Exemption (H070005) The AMPLATZER™ 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:

66
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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