double aortic arch Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor). (Human Phenotype Ontology, HP_0011590)
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12 gene mutations causing the double aortic arch phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
CXCR4 chemokine (C-X-C motif) receptor 4
ECE1 endothelin converting enzyme 1
EDNRA endothelin receptor type A
IFT27 intraflagellar transport 27
INVS inversin
NRP1 neuropilin 1
PCSK5 proprotein convertase subtilisin/kexin type 5
PITX2 paired-like homeodomain 2
TBX1 T-box 1
VANGL2 VANGL planar cell polarity protein 2
VEGFA vascular endothelial growth factor A