TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 2

General Information (adopted from Orphanet):

Synonyms, Signs: DTGA2
Number of Symptoms 4
OrphanetNr:
OMIM Id: 613853
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002021) Pyloric stenosis 51 / 7739
2
(HPO:0001719) Double outlet right ventricle 11799476 IBIS 12 / 7739
3
(HPO:0001669) Transposition of the great arteries 11799476 IBIS 36 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...