VSD1
MCID: VNT028
MIFTS: 27

Ventricular Septal Defect 1 (VSD1) malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Ventricular Septal Defect 1

Aliases & Descriptions for Ventricular Septal Defect 1:

Name: Ventricular Septal Defect 1 54 24 66 29 13 69
Vsd1 66

Characteristics:

HPO:

32
ventricular septal defect 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614429
MedGen 40 C3280777
MeSH 42 D006345

Summaries for Ventricular Septal Defect 1

OMIM : 54 Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50%... (614429) more...

MalaCards based summary : Ventricular Septal Defect 1, also known as vsd1, is related to ventricular septal defect 3 and ventricular septal defect 2, and has symptoms including ventricular septal defect, pulmonic stenosis and atrial septal defect. An important gene associated with Ventricular Septal Defect 1 is GATA4 (GATA Binding Protein 4). The drugs Adrenergic Agents and Adrenergic Agonists have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and fetal brain.

UniProtKB/Swiss-Prot : 66 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 3 Ventricular Septal Defect 2
Ventricular Septal Defect 1

Diseases related to Ventricular Septal Defect 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 ventricular septal defect 3 10.8
2 ventricular septal defect 2 10.8
3 testicular anomalies with or without congenital heart disease 9.8 AVSD1 GATA4

Symptoms & Phenotypes for Ventricular Septal Defect 1

Symptoms by clinical synopsis from OMIM:

614429

Clinical features from OMIM:

614429

Human phenotypes related to Ventricular Septal Defect 1:

32
id Description HPO Frequency HPO Source Accession
1 ventricular septal defect 32 HP:0001629
2 pulmonic stenosis 32 HP:0001642
3 atrial septal defect 32 HP:0001631

Drugs & Therapeutics for Ventricular Septal Defect 1

Drugs for Ventricular Septal Defect 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 50)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Adrenergic Agents Phase 4,Phase 3,Phase 1
2 Adrenergic Agonists Phase 4,Phase 3,Phase 1
3 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
4 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
5 Adrenergic beta-2 Receptor Agonists Phase 4
6 Adrenergic beta-Agonists Phase 4
7 Albuterol Phase 4
8 Tocolytic Agents Phase 4
9 Anti-Asthmatic Agents Phase 4
10 Respiratory System Agents Phase 4
11 Autonomic Agents Phase 4
12 Bronchodilator Agents Phase 4
13
Dexmedetomidine Approved, Vet_approved Phase 3,Phase 1 76631-46-4, 113775-47-6 68602 5311068 56032
14
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
15
Enalaprilat Approved Phase 3 76420-72-9 6917719
16 Analgesics Phase 3,Phase 2,Phase 1
17 Adrenergic alpha-2 Receptor Agonists Phase 3,Phase 1
18 Adrenergic alpha-Agonists Phase 3,Phase 1
19 Analgesics, Non-Narcotic Phase 3,Phase 1
20 Hypnotics and Sedatives Phase 3,Phase 1
21 Central Nervous System Depressants Phase 3,Phase 2,Phase 1
22
protease inhibitors Phase 3
23 HIV Protease Inhibitors Phase 3
24 Angiotensin-Converting Enzyme Inhibitors Phase 3
25 Antihypertensive Agents Phase 3
26
Milrinone Approved Phase 1, Phase 2 78415-72-2 4197
27
Ketamine Approved, Vet_approved Phase 2 6740-88-1 3821
28 Sildenafil Citrate Phase 1, Phase 2 171599-83-0
29 Anesthetics Phase 2
30 Anesthetics, Dissociative Phase 2
31 Anesthetics, General Phase 2
32 Anesthetics, Intravenous Phase 2
33 Vasodilator Agents Phase 1, Phase 2
34 Phosphodiesterase 3 Inhibitors Phase 1, Phase 2
35 Phosphodiesterase 5 Inhibitors Phase 1, Phase 2
36 Phosphodiesterase Inhibitors Phase 1, Phase 2
37 Platelet Aggregation Inhibitors Phase 1, Phase 2
38 Excitatory Amino Acid Antagonists Phase 2
39 Excitatory Amino Acids Phase 2
40 Protective Agents Phase 1, Phase 2
41 Citrate Nutraceutical Phase 1, Phase 2
42
Citric Acid Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
43
Nitric Oxide Approved Phase 1 10102-43-9 145068
44 carnitine Nutraceutical Phase 1
45
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
46 Adjuvants, Anesthesia
47 Narcotics
48 Analgesics, Opioid
49 diuretics
50 Tin Fluorides

Interventional clinical trials:

(show all 28)
id Name Status NCT ID Phase
1 The Cardiopulmonary Effect of Inhaled Beta-2-agonists on Adult Patients Born With Ventricular Septum Defects. Not yet recruiting NCT02914652 Phase 4
2 The Pharmacology and Hemodynamics of Dexmedetomidine in Children With Congenital Heart Disease Completed NCT00480740 Phase 3
3 Angiotensin Converting Enzyme Inhibition in Children With Mitral Regurgitation Terminated NCT00113698 Phase 3
4 Intravenous L-Citrulline to Treat Children Undergoing Heart Bypass Surgery : Revised Protocol Completed NCT01120964 Phase 1, Phase 2
5 Oral Sildenafil and Intravenous Milrinone on Postoperative Pulmonary Hypertension Completed NCT02595541 Phase 1, Phase 2
6 Use of Ketamine Prior to Cardiopulmonary Bypass in Children Completed NCT00556361 Phase 2
7 Left Ventricular Septum Pacing in Patients by Transvenous Approach Through the Inter-ventricular Septum Completed NCT01609738 Phase 1, Phase 2
8 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Not yet recruiting NCT03079401 Phase 1, Phase 2
9 Closure of Muscular Ventricular Septal Defects With The AMPLATZER® Muscular VSD Occluder Unknown status NCT00583791 Phase 1
10 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Unknown status NCT01825369 Phase 1
11 Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER Completed NCT00578708 Phase 1
12 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Recruiting NCT01915277 Phase 1
13 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
14 Transcaval Access for Transcatheter Aortic Valve Replacement in People With No Good Options for Aortic Access Enrolling by invitation NCT02280824 Phase 1
15 Pivotal Study of a Percutaneous Mitral Valve Repair System Unknown status NCT00209274
16 A Randomized Controlled Trial:Treatments on Infundibular Ventricular Septal Defect Completed NCT02361008
17 Longterm Outcome After Ventricular Septal Defect Closure Completed NCT02138435
18 Right Bundle Branch Block After Surgical Closure of Ventricular Septal Defect Completed NCT01480908
19 Measures to Lower the Stress Response in Pediatric Cardiac Surgery Completed NCT00848393
20 Quality of Life in Young Adults With Congenital Heart Disease Completed NCT02463292
21 Magnet Resonance Imaging to Evaluate of Dynamic T2 Preparation Puls by Patients With Shunt or Chronic Obstructive Pulmonary Disease Completed NCT02449083
22 Closure of Muscular Ventricular Septal Defects (VSDs) With the AMPLATZER Muscular VSD (MuVSD) Occluder - Post Approval Study Recruiting NCT00647387
23 Extended Criteria For Fetal Myelomeningocele Repair Recruiting NCT02664207
24 Stress Echo 2020 - The International Stress Echo Study Recruiting NCT03049995
25 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
26 Evaluate Safety and Effectiveness of XenoSure Biological Patch in the Application of Cardiac Repair Not yet recruiting NCT03176225
27 Surgical Outcomes in Pediatric Patients With Coarctation and VSD Terminated NCT00327795
28 ADVANCE ASO AMPLATZER™ Atrial Septal Occluder Post Market Surveillance Study Terminated NCT02353351

Search NIH Clinical Center for Ventricular Septal Defect 1

Genetic Tests for Ventricular Septal Defect 1

Genetic tests related to Ventricular Septal Defect 1:

id Genetic test Affiliating Genes
1 Ventricular Septal Defect 1 29 24 GATA4

Anatomical Context for Ventricular Septal Defect 1

MalaCards organs/tissues related to Ventricular Septal Defect 1:

39
Heart, Brain, 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:

66
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 GATA4 NM_002052.4(GATA4): c.487C> T (p.Pro163Ser) single nucleotide variant Pathogenic rs387906769 GRCh37 Chromosome 8, 11566308: 11566308
2 GATA4 NM_002052.4(GATA4): c.1075G> A (p.Glu359Lys) single nucleotide variant Pathogenic rs368489876 GRCh37 Chromosome 8, 11614521: 11614521
3 GATA4 NM_002052.4(GATA4): c.1325C> T (p.Ala442Val) single nucleotide variant Pathogenic rs146017816 GRCh37 Chromosome 8, 11615980: 11615980
4 GATA4 NM_002052.4(GATA4): c.1220C> A (p.Pro407Gln) single nucleotide variant Pathogenic rs115099192 GRCh37 Chromosome 8, 11615875: 11615875
5 GATA4 NM_002052.4(GATA4): c.886G> C (p.Gly296Arg) single nucleotide variant Pathogenic rs104894073 GRCh37 Chromosome 8, 11607722: 11607722
6 GATA4 NM_002052.4(GATA4): c.127C> T (p.Arg43Trp) single nucleotide variant Pathogenic rs387906770 GRCh37 Chromosome 8, 11565948: 11565948

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

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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