Ventricular Septal Defect 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

VSD2 MCID: VNT026 MIFTS: 24	Ventricular Septal Defect 2 (VSD2) Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Ventricular Septal Defect 2

MalaCards integrated aliases for Ventricular Septal Defect 2:

Name: Ventricular Septal Defect 2 ⁵⁷ ⁷⁴ ²⁹ ¹³ ⁶ ⁷²

Vsd2 ⁵⁷ ⁷⁴

Septal Defect, Ventricular, Type 2 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

ventricular septal defect 2:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 614431 PS614429

MeSH ⁴⁴ D006345

MedGen ⁴² C3280783

UMLS ⁷² C3280783

Sources

Summaries for Ventricular Septal Defect 2

OMIM : ⁵⁷ 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 2,3:Wang et al., 2011, 2011). For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (614429). (614431)

MalaCards based summary : Ventricular Septal Defect 2, also known as vsd2, is related to ventricular septal defect and heart 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). Affiliated tissues include heart, brain and fetal brain, and related phenotype is perimembranous ventricular septal defect.

UniProtKB/Swiss-Prot : ⁷⁴ 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.

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Related Diseases for Ventricular Septal Defect 2

Diseases in the Ventricular Septal Defect family:

Ventricular Septal Defect 1	Ventricular Septal Defect 2
Ventricular Septal Defect 3

Diseases related to Ventricular Septal Defect 2 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	ventricular septal defect	10.2
2	heart septal defect	9.9
3	pulmonary valve stenosis	9.9

Sources

Symptoms & Phenotypes for Ventricular Septal Defect 2

Human phenotypes related to Ventricular Septal Defect 2:

³²

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

Cardiovascular Heart:
ventricular septal defect, perimembranous

Clinical features from OMIM:

614431

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Drugs & Therapeutics for Ventricular Septal Defect 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Cardiopulmonary Function in Adults Born With a Ventricular Septal Defect	Recruiting	NCT03684161

Search NIH Clinical Center for Ventricular Septal Defect 2

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Genetic Tests for Ventricular Septal Defect 2

Genetic tests related to Ventricular Septal Defect 2:

#	Genetic test	Affiliating Genes
1	Ventricular Septal Defect 2 ²⁹	CITED2

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Anatomical Context for Ventricular Septal Defect 2

MalaCards organs/tissues related to Ventricular Septal Defect 2:

⁴¹

Heart, Brain, Fetal Brain, Lung, T Cells

Sources

Publications for Ventricular Septal Defect 2

Articles related to Ventricular Septal Defect 2:

(show all 40)

#	Title	Authors	PMID	Year
1	Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. ⁸ ⁷¹	Sperling S...Hammer S	16287139	2005
2	A novel GATA4 mutation responsible for congenital ventricular septal defects. ⁸	Wang J...Yang YQ	21637914	2011
3	A novel NKX2-5 mutation in familial ventricular septal defect. ⁸	Wang J...Yang YQ	21165553	2011
4	Insights into the binding mode and functional components of the analgesic-antitumour peptide from Buthus martensii Karsch to human voltage-gated sodium channel 1.7 based on dynamic simulation analysis. ³⁸	Zhao F...Song YB	31099313	2019
5	Structural Basis of Nav1.7 Inhibition by a Gating-Modifier Spider Toxin. ³⁸	Xu H...Payandeh J	30661758	2019
6	22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features. ³⁸	Ramirez-Velazco A...Dominguez MG	30410196	2018
7	Obstetric outcomes and effects on babies born to women treated for epilepsy during pregnancy in a resource limited setting: a comparative cohort study. ³⁸	Galappatthy P...Wijeyaratne CN	29898689	2018
8	Selective Ligands and Drug Discovery Targeting the Voltage-Gated Sodium Channel Nav1.7. ³⁸	Payandeh J...Hackos DH	29532179	2018
9	A Functional NaV1.7-NaVAb Chimera with a Reconstituted High-Affinity ProTx-II Binding Site. ³⁸	Rajamani R...Herrington J	28645932	2017
10	A Retrospective Study of Congenital Cardiac Abnormality Associated with Scoliosis. ³⁸	Bozcali E...Polat V	27114761	2016
11	Structure, inhibition and regulation of two-pore channel TPC1 from Arabidopsis thaliana. ³⁸	Kintzer AF...Stroud RM	26961658	2016
12	The trabecula septomarginalis (Leonardo's cord) in abnormal ventriculo-arterial connections: anatomic and morphogenetic implications. ³⁸	Capuani A	24750982	2014
13	Gingival evaluation of the pediatric cardiac patient. ³⁸	Nosrati E...Kowolik JE	24290561	2013
14	[Clinical value of ECG-gated dual-source computed tomography and angiography in assessing coarctation of aorta]. ³⁸	Peng L...Luo Y	23488145	2013
15	Monochorionic twins discordant for congenital heart disease: a referral center's experience and possible pathophysiologic mechanisms. ³⁸	AlRais F...Moon-Grady AJ	21744365	2011
16	Pentalogy of Cantrell: Forty-two Years of Experience in the Hospital Infantil de Mexico Federico Gomez. ³⁸	Balderrabano-Saucedo N...Puga-Munuzuri FJ	23804974	2011
17	[Association between nuclear factor of activated T cells 1 gene mutation and simple congenital heart disease in children]. ³⁸	Han ZQ...Hu DY	21055286	2010
18	Safety and efficacy of transition from subcutaneous treprostinil to oral sildenafil in patients with pulmonary arterial hypertension. ³⁸	Keogh AM...Macdonald PS	18022071	2007
19	Management after childhood repair of tetralogy of fallot. ³⁸	Aboulhosn J...Child JS	17078912	2006
20	[Safeguard and management of the heart vales in congenital heart disease procedure]. ³⁸	Yu YF...Lang L	14680562	2003
21	Late recovery of atrioventricular conduction after pacemaker implantation for complete heart block associated with surgery for congenital heart disease. ³⁸	Batra AS...Silka MJ	12830046	2003
22	Excellent survival and low complication rate in medium-term follow-up after arterial switch operation for complete transposition. ³⁸	Rehnstrom P...Berggren H	12775310	2003
23	BioGlue Surgical Adhesive--an appraisal of its indications in cardiac surgery. ³⁸	Passage J...O'Brien MF	12173825	2002
24	Surgical management of aortopulmonary window. ³⁸	Tanoue Y...Joh K	11030126	2000
25	Surgical experience with congenital heart disease in Down's syndrome. ³⁸	Parvathy U...Vakamudi M	11084787	2000
26	Left ventricular growth in selected hypoplastic left ventricles: outcome after repair of coarctation of aorta. ³⁸	Alboliras ET...Rocchini AP	10475427	1999
27	[Congenital cardiovascular malformations and chromosome microdeletions in 22q11.2]. ³⁸	Trost D...Schwanitz G	9951451	1999
28	[Intracardiac operations performed in beating heart through mini-thoracotomy in 34 patients]. ³⁸	Jia Q...Li W	11825411	1998
29	Transesophageal echocardiography to evaluate patients with severe pulmonary hypertension for lung transplantation. ³⁸	Gorcsan J...Griffith BP	7887718	1995
30	Selective lung or heart-lung transplantation for pulmonary hypertension associated with congenital cardiac anomalies. ³⁸	Lupinetti FM...Deeb GM	8010800	1994
31	Transtelephonic echocardiography: successful use in a tertiary pediatric referral center. ³⁸	Sobczyk WL...Elbl F	8501554	1993
32	Total cavopulmonary connection--early results. ³⁸	Hamid IA...Cherian KM	8314274	1993
33	The Damus-Stansel-Kaye procedure: anatomical determinants and modifications. ³⁸	DeLeon SY...Idriss FS	1898173	1991
34	Congenital polyvalvular disease in trisomy 18: echocardiographic diagnosis. ³⁸	Balderston SM...Sondheimer HM	2395741	1990
35	[Heart valve replacement in active infectious endocarditis]. ³⁸	Meier B...Nager F	2799330	1989
36	Extracorporeal membrane oxygenation for postcardiotomy cardiogenic shock in children. ³⁸	Rogers AJ...Fischer DR	2757447	1989
37	The Puig-Massana-Shiley annuloplasty ring for mitral valve repair: experience in 126 patients. ³⁸	Murphy JP...Cooley DA	3800481	1987
38	Management of penetrating cardiac injuries: the role of emergency room thoracotomy. ³⁸	Tavares S...McLaughlin JS	6476939	1984
39	Second heart sound after pulmonary arterial banding operation. ³⁸	Cumming GR	57786	1976
40	[Mechanism of development of the prolapsing aortic valve and aortic insufficency associated with ventricular septal defect. 2. Angiocardiographic considerations]. ³⁸	Tatsuno K	1240886	1975

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Genes for Ventricular Septal Defect 2

Genes related to Ventricular Septal Defect 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CITED2	Cbp/P300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 2	Protein Coding	1018.08	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders (show sections)	16287139

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Variations for Ventricular Septal Defect 2

ClinVar genetic disease variations for Ventricular Septal Defect 2:

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	CITED2	CITED2, 27-BP DEL, NT508	deletion	Pathogenic

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Expression for Ventricular Septal Defect 2

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

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Pathways for Ventricular Septal Defect 2

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GO Terms for Ventricular Septal Defect 2

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Sources for Ventricular Septal Defect 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Ventricular Septal Defect 2 (VSD2)

Aliases & Classifications for Ventricular Septal Defect 2

MalaCards integrated aliases for Ventricular Septal Defect 2:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Ventricular Septal Defect 2

Related Diseases for Ventricular Septal Defect 2

Diseases in the Ventricular Septal Defect family:

Diseases related to Ventricular Septal Defect 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Ventricular Septal Defect 2

Human phenotypes related to Ventricular Septal Defect 2:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Ventricular Septal Defect 2

Interventional clinical trials:

Genetic Tests for Ventricular Septal Defect 2

Genetic tests related to Ventricular Septal Defect 2:

Anatomical Context for Ventricular Septal Defect 2

MalaCards organs/tissues related to Ventricular Septal Defect 2:

Publications for Ventricular Septal Defect 2

Articles related to Ventricular Septal Defect 2:

Genes for Ventricular Septal Defect 2

Genes related to Ventricular Septal Defect 2 (1 elite genes):

Variations for Ventricular Septal Defect 2

ClinVar genetic disease variations for Ventricular Septal Defect 2:

Expression for Ventricular Septal Defect 2

Pathways for Ventricular Septal Defect 2

GO Terms for Ventricular Septal Defect 2

Sources for Ventricular Septal Defect 2