TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 2
General Information (adopted from Orphanet):
|Number of Symptoms||4|
Prevalence, inheritance and age of onset:
|Prevalence:||No data available.|
Autosomal dominant inheritance
|Age of onset:||
Disease classification (adopted from Orphanet):
|Parent Diseases:||No data available.|
ClinVar (via SNiPA)
|Gene symbol||Variation||Clinical significance||Reference|
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 ...
|Molecular genetics OMIM||
Because CFC1 mutations had been identified in patients with heterotaxy syndrome (605376), all of whom had congenital cardiac malformations, including malposition of the great arteries, Goldmuntz et al. (2002) hypothesized that a subset of patients with similar types ...