VSD2
MCID: VNT026
MIFTS: 17

Ventricular Septal Defect 2 (VSD2)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ventricular Septal Defect 2

MalaCards integrated aliases for Ventricular Septal Defect 2:

Name: Ventricular Septal Defect 2 58 76 30 13 6 74
Vsd2 58 76
Septal Defect, Ventricular, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
ventricular septal defect 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614431
MeSH 45 D006345
MedGen 43 C3280783
UMLS 74 C3280783

Summaries for Ventricular Septal Defect 2

OMIM : 58 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, is also known as vsd2. 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 brain, fetal brain and heart, and related phenotype is perimembranous ventricular septal defect.

UniProtKB/Swiss-Prot : 76 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 1 Ventricular Septal Defect 2
Ventricular Septal Defect 3

Symptoms & Phenotypes for Ventricular Septal Defect 2

Human phenotypes related to Ventricular Septal Defect 2:

33
# Description HPO Frequency HPO Source Accession
1 perimembranous ventricular septal defect 33 HP:0011682

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
ventricular septal defect, perimembranous

Clinical features from OMIM:

614431

Drugs & Therapeutics for Ventricular Septal Defect 2

Search Clinical Trials , NIH Clinical Center for Ventricular Septal Defect 2

Genetic Tests for Ventricular Septal Defect 2

Genetic tests related to Ventricular Septal Defect 2:

# Genetic test Affiliating Genes
1 Ventricular Septal Defect 2 30 CITED2

Anatomical Context for Ventricular Septal Defect 2

MalaCards organs/tissues related to Ventricular Septal Defect 2:

42
Brain, Fetal Brain, Heart

Publications for Ventricular Septal Defect 2

Articles related to Ventricular Septal Defect 2:

# Title Authors Year
1
Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. ( 16287139 )
2005

Variations for Ventricular Septal Defect 2

ClinVar genetic disease variations for Ventricular Septal Defect 2:

6
# 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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