Ventricular septal defect 2

Preferred Label : Ventricular septal defect 2;

Symbol : VSD2;

CISMeF acronym : VSD2;

Type : Phenotype, molecular basis known;

Description : 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 Wang et al., 2011, 2011). For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (614429).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the CBP/p300-interacting transactivator, with glu/asp-rich C-terminal domain, 2 gene (CITED2, 602937.0001);

Prefixed ID : #614431;

Details

Origin ID

614431;

UMLS CUI

C3280783;

Automatic exact mappings (from CISMeF team)
- CITED2 wt Allele [NCIt concept]
DO Cross reference
- ventricular septal defect [DO Concept]
Genes related to phenotype
- Cbp/p300-interacting transactivator, with glu/asp-rich C-terminal domain, 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Perimembranous ventricular septal defect [HPO term]
ORDO concept(s)
- Ventricular septal defect [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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