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, Respiratory 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 ⁷³ ²⁹ ¹³ ⁶ ⁷¹

Vsd2 ⁵⁷ ⁷³

Septal Defect, Ventricular, Type 2 ³⁹

Type 2 Ventricular Septal Defect ⁶

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

HPO:

³¹

ventricular septal defect 2:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 614431

OMIM Phenotypic Series ⁵⁷ PS614429

MeSH ⁴⁴ D006345

MedGen ⁴¹ C3280783

SNOMED-CT via HPO ⁶⁸ 109428005 263681008

UMLS ⁷¹ C3280783

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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) (Updated 05-Mar-2021)

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, fetal brain and lung, and related phenotype is perimembranous ventricular septal defect.

UniProtKB/Swiss-Prot : ⁷³ 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	Top Affiliating Genes
1	ventricular septal defect	10.0
2	heart septal defect	10.0

Sources

Symptoms & Phenotypes for Ventricular Septal Defect 2

Human phenotypes related to Ventricular Septal Defect 2:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	perimembranous ventricular septal defect ³¹		HP:0011682

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Cardiovascular Heart:
ventricular septal defect, perimembranous

Clinical features from OMIM®:

614431 (Updated 05-Mar-2021)

Sources

Drugs & Therapeutics for Ventricular Septal Defect 2

Search Clinical Trials , 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

Sources

Anatomical Context for Ventricular Septal Defect 2

MalaCards organs/tissues related to Ventricular Septal Defect 2:

⁴⁰

Heart, Fetal Brain, Lung, T Cells

Sources

Publications for Ventricular Septal Defect 2

Articles related to Ventricular Septal Defect 2:

(show all 43)

#	Title	Authors	PMID	Year
1	Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. ⁵⁷ ⁶	Sperling S...Hammer S	16287139	2005
2	A novel GATA4 mutation responsible for congenital ventricular septal defects. ⁵⁷	Wang J...Yang YQ	21637914	2011
3	A novel NKX2-5 mutation in familial ventricular septal defect. ⁵⁷	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. ⁶¹	Zhao F...Song YB	31099313	2020
5	Development of Photocrosslinking Probes Based on Huwentoxin-IV to Map the Site of Interaction on Nav1.7. ⁶¹	Tzakoniati F...Tate EW	31732432	2020
6	Early and late outcomes of surgical repair of double-chambered right ventricle: a single-centre experience. ⁶¹	Surucu M...Aslamaci S	32063236	2020
7	Resting state structure of the hyperdepolarization activated two-pore channel 3. ⁶¹	Dickinson MS...Stroud RM	31924746	2020
8	Structural Basis of Nav1.7 Inhibition by a Gating-Modifier Spider Toxin. ⁶¹	Xu H...Payandeh J	30661758	2019
9	22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features. ⁶¹	Ramirez-Velazco A...Dominguez MG	30410196	2018
10	Obstetric outcomes and effects on babies born to women treated for epilepsy during pregnancy in a resource limited setting: a comparative cohort study. ⁶¹	Galappatthy P...Wijeyaratne CN	29898689	2018
11	Selective Ligands and Drug Discovery Targeting the Voltage-Gated Sodium Channel Nav1.7. ⁶¹	Payandeh J...Hackos DH	29532179	2018
12	A Functional NaV1.7-NaVAb Chimera with a Reconstituted High-Affinity ProTx-II Binding Site. ⁶¹	Rajamani R...Herrington J	28645932	2017
13	A Retrospective Study of Congenital Cardiac Abnormality Associated with Scoliosis. ⁶¹	Bozcali E...Polat V	27114761	2016
14	Structure, inhibition and regulation of two-pore channel TPC1 from Arabidopsis thaliana. ⁶¹	Kintzer AF...Stroud RM	26961658	2016
15	The trabecula septomarginalis (Leonardo's cord) in abnormal ventriculo-arterial connections: anatomic and morphogenetic implications. ⁶¹	Capuani A	24750982	2014
16	Gingival evaluation of the pediatric cardiac patient. ⁶¹	Nosrati E...Kowolik JE	24290561	2013
17	[Clinical value of ECG-gated dual-source computed tomography and angiography in assessing coarctation of aorta]. ⁶¹	Peng L...Luo Y	23488145	2013
18	Monochorionic twins discordant for congenital heart disease: a referral center's experience and possible pathophysiologic mechanisms. ⁶¹	AlRais F...Moon-Grady AJ	21744365	2011
19	Pentalogy of Cantrell: Forty-two Years of Experience in the Hospital Infantil de Mexico Federico Gomez. ⁶¹	Balderrabano-Saucedo N...Puga-Munuzuri FJ	23804974	2011
20	[Association between nuclear factor of activated T cells 1 gene mutation and simple congenital heart disease in children]. ⁶¹	Han ZQ...Hu DY	21055286	2010
21	Safety and efficacy of transition from subcutaneous treprostinil to oral sildenafil in patients with pulmonary arterial hypertension. ⁶¹	Keogh AM...Macdonald PS	18022071	2007
22	Management after childhood repair of tetralogy of fallot. ⁶¹	Aboulhosn J...Child JS	17078912	2006
23	[Safeguard and management of the heart vales in congenital heart disease procedure]. ⁶¹	Yu YF...Lang L	14680562	2003
24	Late recovery of atrioventricular conduction after pacemaker implantation for complete heart block associated with surgery for congenital heart disease. ⁶¹	Batra AS...Silka MJ	12830046	2003
25	Excellent survival and low complication rate in medium-term follow-up after arterial switch operation for complete transposition. ⁶¹	Rehnstrom P...Berggren H	12775310	2003
26	BioGlue Surgical Adhesive--an appraisal of its indications in cardiac surgery. ⁶¹	Passage J...O'Brien MF	12173825	2002
27	Surgical management of aortopulmonary window. ⁶¹	Tanoue Y...Joh K	11030126	2000
28	Surgical experience with congenital heart disease in Down's syndrome. ⁶¹	Parvathy U...Vakamudi M	11084787	2000
29	Left ventricular growth in selected hypoplastic left ventricles: outcome after repair of coarctation of aorta. ⁶¹	Alboliras ET...Rocchini AP	10475427	1999
30	[Congenital cardiovascular malformations and chromosome microdeletions in 22q11.2]. ⁶¹	Trost D...Schwanitz G	9951451	1999
31	[Intracardiac operations performed in beating heart through mini-thoracotomy in 34 patients]. ⁶¹	Jia Q...Li W	11825411	1998
32	Transesophageal echocardiography to evaluate patients with severe pulmonary hypertension for lung transplantation. ⁶¹	Gorcsan J...Griffith BP	7887718	1995
33	Selective lung or heart-lung transplantation for pulmonary hypertension associated with congenital cardiac anomalies. ⁶¹	Lupinetti FM...Deeb GM	8010800	1994
34	Transtelephonic echocardiography: successful use in a tertiary pediatric referral center. ⁶¹	Sobczyk WL...Elbl F	8501554	1993
35	Total cavopulmonary connection--early results. ⁶¹	Hamid IA...Cherian KM	8314274	1993
36	The Damus-Stansel-Kaye procedure: anatomical determinants and modifications. ⁶¹	DeLeon SY...Idriss FS	1898173	1991
37	Congenital polyvalvular disease in trisomy 18: echocardiographic diagnosis. ⁶¹	Balderston SM...Sondheimer HM	2395741	1990
38	[Heart valve replacement in active infectious endocarditis]. ⁶¹	Meier B...Nager F	2799330	1989
39	Extracorporeal membrane oxygenation for postcardiotomy cardiogenic shock in children. ⁶¹	Rogers AJ...Fischer DR	2757447	1989
40	The Puig-Massana-Shiley annuloplasty ring for mitral valve repair: experience in 126 patients. ⁶¹	Murphy JP...Cooley DA	3800481	1987
41	Management of penetrating cardiac injuries: the role of emergency room thoracotomy. ⁶¹	Tavares S...McLaughlin JS	6476939	1984
42	Second heart sound after pulmonary arterial banding operation. ⁶¹	Cumming GR	57786	1976
43	[Mechanism of development of the prolapsing aortic valve and aortic insufficency associated with ventricular septal defect. 2. Angiocardiographic considerations]. ⁶¹	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	PubMed IDs
1	CITED2	Cbp/P300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 2	Protein Coding	1007.8	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	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CITED2	CITED2, 27-BP DEL, NT508	Deletion	Pathogenic	6721
2	LSM1	NM_014462.3(LSM1):c.231+4A>C	SNV	Uncertain significance	623485	rs775468919	8:38027316-38027316	8:38169798-38169798

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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

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

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