MCID: VNT026
MIFTS: 16

Ventricular Septal Defect 2

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Ventricular Septal Defect 2

MalaCards integrated aliases for Ventricular Septal Defect 2:

Name: Ventricular Septal Defect 2 57 75 29 13 6 73
Vsd2 57 75
Septal Defect, Ventricular, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ventricular septal defect 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614431
MedGen 42 C3280783
MeSH 44 D006345
SNOMED-CT via HPO 69 263681008 109428005
UMLS 73 C3280783

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

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
ventricular septal defect, perimembranous


Clinical features from OMIM:

614431

Human phenotypes related to Ventricular Septal Defect 2:

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

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 29 CITED2

Anatomical Context for Ventricular Septal Defect 2

MalaCards organs/tissues related to Ventricular Septal Defect 2:

41
Fetal Brain, Heart, Brain

Publications for Ventricular Septal Defect 2

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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