VSD2
MCID: VNT026
MIFTS: 23

Ventricular Septal Defect 2 (VSD2) malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Ventricular Septal Defect 2

Aliases & Descriptions for Ventricular Septal Defect 2:

Name: Ventricular Septal Defect 2 54 24 66 29 13 69
Vsd2 24 66

Characteristics:

HPO:

32
ventricular septal defect 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614431
MedGen 40 C3280783
MeSH 42 D006345

Summaries for Ventricular Septal Defect 2

OMIM : 54 Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50%... (614431) more...

MalaCards based summary : Ventricular Septal Defect 2, also known as vsd2, is related to ventricular septal defect 1, and has symptoms including perimembranous ventricular septal defect An important gene associated with Ventricular Septal Defect 2 is CITED2 (Cbp/P300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 2). 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 2: 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 2

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 2 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 2

Symptoms by clinical synopsis from OMIM:

614431

Clinical features from OMIM:

614431

Human phenotypes related to Ventricular Septal Defect 2:

32
id Description HPO Frequency HPO Source Accession
1 perimembranous ventricular septal defect 32 HP:0011682

Drugs & Therapeutics for Ventricular Septal Defect 2

Drugs for Ventricular Septal Defect 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 78)
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 Anti-Asthmatic Agents Phase 4
9 Autonomic Agents Phase 4
10 Bronchodilator Agents Phase 4
11 Respiratory System Agents Phase 4
12 Tocolytic 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 Adrenergic alpha-2 Receptor Agonists Phase 3,Phase 1
17 Adrenergic alpha-Agonists Phase 3,Phase 1
18 Analgesics Phase 3,Phase 2,Phase 1
19 Analgesics, Non-Narcotic Phase 3,Phase 1
20 Central Nervous System Depressants Phase 3,Phase 2,Phase 1
21 Hypnotics and Sedatives Phase 3,Phase 1
22 Angiotensin-Converting Enzyme Inhibitors Phase 3
23 Antihypertensive Agents Phase 3
24 HIV Protease Inhibitors Phase 3
25
protease inhibitors Phase 3
26
Ketamine Approved, Vet_approved Phase 2 6740-88-1 3821
27
Milrinone Approved Phase 1, Phase 2 78415-72-2 4197
28 Anesthetics Phase 2
29 Anesthetics, Dissociative Phase 2
30 Anesthetics, General Phase 2
31 Anesthetics, Intravenous Phase 2
32 Excitatory Amino Acid Antagonists Phase 2
33 Excitatory Amino Acids Phase 2
34 Anticoagulants Phase 2
35 Blood Substitutes Phase 2
36 Dextrans Phase 2
37 Pharmaceutical Solutions Phase 2
38 Plasma Substitutes Phase 2
39 Phosphodiesterase 3 Inhibitors Phase 1, Phase 2
40 Phosphodiesterase 5 Inhibitors Phase 1, Phase 2
41 Phosphodiesterase Inhibitors Phase 1, Phase 2
42 Platelet Aggregation Inhibitors Phase 1, Phase 2
43 Protective Agents Phase 1, Phase 2
44 Sildenafil Citrate Phase 1, Phase 2 171599-83-0
45 Vasodilator Agents Phase 1, Phase 2
46 Citrate Nutraceutical Phase 1, Phase 2
47
Citric Acid Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
48
Nitric Oxide Approved Phase 1 10102-43-9 145068
49 carnitine Nutraceutical Phase 1
50
Isoflurane Approved, Vet_approved 26675-46-7 3763

Interventional clinical trials:

(show all 34)
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 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
6 Use of Ketamine Prior to Cardiopulmonary Bypass in Children Completed NCT00556361 Phase 2
7 Intravenous L-Citrulline to Treat Children Undergoing Heart Bypass Surgery : Revised Protocol Completed NCT01120964 Phase 1, Phase 2
8 Hypertonic Saline Dextran in Pediatric Cardiac Surgery Completed NCT00199771 Phase 2
9 Oral Sildenafil and Intravenous Milrinone on Postoperative Pulmonary Hypertension Completed NCT02595541 Phase 1, Phase 2
10 Left Ventricular Septum Pacing in Patients by Transvenous Approach Through the Inter-ventricular Septum Completed NCT01609738 Phase 1, Phase 2
11 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Not yet recruiting NCT03079401 Phase 1, Phase 2
12 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Unknown status NCT01825369 Phase 1
13 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Recruiting NCT01915277 Phase 1
14 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
15 Pivotal Study of a Percutaneous Mitral Valve Repair System Unknown status NCT00209274
16 Hybrid Closure of Congenital Heart Disease Completed NCT02794584
17 Right Bundle Branch Block After Surgical Closure of Ventricular Septal Defect Completed NCT01480908
18 Longterm Outcome After Ventricular Septal Defect Closure Completed NCT02138435
19 Magnet Resonance Imaging to Evaluate of Dynamic T2 Preparation Puls by Patients With Shunt or Chronic Obstructive Pulmonary Disease Completed NCT02449083
20 Bupropion & Cardio Birth Defect (Slone) Completed NCT01597661
21 Acetaminophen for Oxidative Stress After Cardiopulmonary Bypass Completed NCT01228305
22 Quality of Life in Young Adults With Congenital Heart Disease Completed NCT02463292
23 Measures to Lower the Stress Response in Pediatric Cardiac Surgery Completed NCT00848393
24 Plastic Bronchitis and Protein Losing Enteropathy in Children With Single Ventricle Physiology Completed NCT01563757
25 Genes Causing Ebstein's Anomaly Completed NCT00497705
26 EVEREST II Pivotal Study High Risk Registry (HRR) Completed NCT01940120
27 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708
28 Extended Criteria For Fetal Myelomeningocele Repair Recruiting NCT02664207
29 MitraClip® and Hemodynamic Effects of Relevant Iatrogenic Atrial Septum Defect Closure Recruiting NCT03024268
30 Stress Echo 2020 - The International Stress Echo Study Recruiting NCT03049995
31 Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract Reconstruction Active, not recruiting NCT02700100
32 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
33 Evolution of Two Cohorts of Children (Univentricular and Bi-ventricular Heart) After Strapping of the Pulmonary Artery Not yet recruiting NCT03047343
34 ADVANCE ASO AMPLATZER™ Atrial Septal Occluder Post Market Surveillance Study Terminated NCT02353351

Search NIH Clinical Center for Ventricular Septal Defect 2

Genetic Tests for Ventricular Septal Defect 2

Genetic tests related to Ventricular Septal Defect 2:

id Genetic test Affiliating Genes
1 Ventricular Septal Defect 2 29 24 CITED2

Anatomical Context for Ventricular Septal Defect 2

MalaCards organs/tissues related to Ventricular Septal Defect 2:

39
Heart, Brain, Fetal Brain

Publications for Ventricular Septal Defect 2

Variations for Ventricular Septal Defect 2

ClinVar genetic disease variations for Ventricular Septal Defect 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CITED2 CITED2, 27-BP DEL, NT508 deletion Pathogenic

Expression for Ventricular Septal Defect 2

Search GEO for disease gene expression data for Ventricular Septal Defect 2.

Pathways for Ventricular Septal Defect 2

GO Terms for Ventricular Septal Defect 2

Sources for Ventricular Septal Defect 2

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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