Preferred Label : Transposition of the great arteries, dextro-looped;
Symbol : DTGA;
CISMeF acronym : D-TGA; DTGA1;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : DTGA1;
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. - Genetic Heterogeneity of Dextro-Looped
Transposition of the Great Arteries;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the mediator complex subunit 13-like gene (MED13L, 608771.0001);
Prefixed ID : 608808;
Origin ID : 608808;
UMLS CUI : C1837341;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
