Congenital heart defects, multiple types, 6

Preferred Label : Congenital heart defects, multiple types, 6;

Symbol : CHTD6;

CISMeF acronym : CHTD6; DTGA3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Transposition of the great arteries, dextro-looped 3; DTGA3;

Description : The more common form of transposition of the great arteries, dextro-looped TGA, consists of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (In the less common type of TGA, levo-looped TGA, the ventricles are inverted instead) (Goldmuntz et al., 2002). This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients with TGA often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required. For a discussion of genetic heterogeneity of dextro-looped transposition of the great arteries, see 608808.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the growth/differentiation factor-1 gene (GDF1, 602880.0001);

Prefixed ID : #613854;

Details

Origin ID

613854;

UMLS CUI

C3151221;

Automatic exact mappings (from CISMeF team)
- Congenitally uncorrected transposition of the great arteries [ORDO Disease]
Currated CISMeF NLP mapping
- multiple types of congenital heart defects 6 [DO Concept]
DO Cross reference
- multiple types of congenital heart defects 6 [DO Concept]
Genes related to phenotype
- Growth/differentiation factor 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Coarctation of aorta [HPO term]
- Complete atrioventricular canal defect [HPO term]
- Double outlet right ventricle [HPO term]
- Hypoplastic pulmonary veins [HPO term]
- Left ventricular outflow tract obstruction [HPO term]
- Pulmonary artery atresia [HPO term]
- Pulmonic stenosis [HPO term]
- Right aortic arch [HPO term]
- Secundum atrial septal defect [HPO term]
- Single ventricle [HPO term]
- Tetralogy of Fallot [HPO term]
- Total anomalous pulmonary venous return [HPO term]
- Transposition of the great arteries [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Congenitally uncorrected transposition of the great arteries [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- multiple types of congenital heart defects 6 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients