MCID: RGH006
MIFTS: 28

Right Aortic Arch

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Right Aortic Arch

MalaCards integrated aliases for Right Aortic Arch:

Name: Right Aortic Arch 58 6

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare cardiac malformations
Rare respiratory diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q25.4
UMLS via Orphanet 71 C0035615
Orphanet 58 ORPHA99081

Summaries for Right Aortic Arch

MalaCards based summary : Right Aortic Arch is related to heterotaxy and dextrocardia. An important gene associated with Right Aortic Arch is KIAA1109 (KIAA1109). Affiliated tissues include heart, trachea and lung, and related phenotypes are Increased vesicular stomatitis virus (VSV) infection and cardiovascular system

Related Diseases for Right Aortic Arch

Diseases related to Right Aortic Arch via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 heterotaxy 29.8 CFAP53 ACVR2B
2 dextrocardia 29.6 CFAP53 ACVR2B
3 visceral heterotaxy 29.5 CFAP53 ACVR2B
4 heterotaxy, visceral, 4, autosomal 11.2
5 heterotaxy, visceral, 6, autosomal 11.2
6 congenital heart defects, multiple types, 7 11.2
7 aberrant subclavian artery 11.0
8 dysphagia 10.8
9 tetralogy of fallot 10.7
10 heart septal defect 10.7
11 ventricular septal defect 10.7
12 kommerell diverticulum 10.7
13 patent ductus arteriosus 1 10.7
14 subclavian steal syndrome 10.7
15 esophageal cancer 10.6
16 aortic dissection 10.5
17 digeorge syndrome 10.5
18 coarctation of aorta 10.5
19 esophageal atresia 10.5
20 aneurysm 10.5
21 tracheoesophageal fistula with or without esophageal atresia 10.4
22 dextro-looped transposition of the great arteries 10.4
23 aortic aneurysm 10.4
24 megaesophagus 10.4
25 down syndrome 10.4
26 atrial heart septal defect 10.4
27 dysphagia lusoria 10.4
28 double outlet right ventricle 10.3
29 hypoplastic left heart syndrome 10.3
30 chromosomal triplication 10.3
31 situs inversus 10.3
32 aortic arch interruption 10.3
33 pectus excavatum 10.2
34 aortic aneurysm, familial thoracic 1 10.2
35 angina pectoris 10.2
36 respiratory failure 10.2
37 vertebrobasilar insufficiency 10.2
38 47,xyy 10.2
39 aortopulmonary window 10.2
40 internal carotid agenesis 10.2
41 conotruncal heart malformations 10.1
42 pulmonic stenosis 10.1
43 tricuspid atresia 10.1
44 atrioventricular septal defect 10.1
45 pulmonary hypertension 10.1
46 hemopericardium 10.1
47 mitral valve insufficiency 10.1
48 mitral valve stenosis 10.1
49 hemangioma 10.1
50 tracheal stenosis 10.1

Graphical network of the top 20 diseases related to Right Aortic Arch:



Diseases related to Right Aortic Arch

Symptoms & Phenotypes for Right Aortic Arch

GenomeRNAi Phenotypes related to Right Aortic Arch according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vesicular stomatitis virus (VSV) infection GR00356-A-1 8.32 ACVR2B

MGI Mouse Phenotypes related to Right Aortic Arch:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.56 ACVR2B CFAP53 FLT4 KIAA1109
2 embryo MP:0005380 9.46 ACVR2B CFAP53 FLT4 KIAA1109
3 integument MP:0010771 9.26 ACVR2B CFAP53 FLT4 KIAA1109
4 liver/biliary system MP:0005370 8.8 ACVR2B CFAP53 FLT4

Drugs & Therapeutics for Right Aortic Arch

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Management of Prenatally Diagnosed Isolated Right Aortic Arch: the ARCADE Study Completed NCT04029064

Search NIH Clinical Center for Right Aortic Arch

Genetic Tests for Right Aortic Arch

Anatomical Context for Right Aortic Arch

MalaCards organs/tissues related to Right Aortic Arch:

40
Heart, Trachea, Lung, Testis, Endothelial, Pons, Pituitary

Publications for Right Aortic Arch

Articles related to Right Aortic Arch:

(show top 50) (show all 1144)
# Title Authors PMID Year
1
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. 6
29290337 2018
2
Esophageal atresia with right aortic arch: An experience of thoracoscopic repair through left thorax. 61
32885582 2021
3
[Absence of arterial duct in fetus: an autopsy analysis]. 61
33677884 2021
4
Prenatal diagnosis and postnatal course in four fetuses with very rare pulmonary artery anomalies. 61
33715336 2021
5
Isolated subclavian or brachiocephalic arteries with tetralogy of Fallot, left retro-aortic brachiocephalic vein. 61
33157206 2021
6
Congenitally Malformed Hearts: Aspects of Teaching and Research Involving Medical Students. 61
33800587 2021
7
Prenatal Diagnosis of Double Aortic Arch: Associated Findings and Postnatal Clinical Outcomes. 61
33656187 2021
8
Anomalous origin of left subclavian artery from ascending aorta in a right aortic arch: A case report with review of literature. 61
33442902 2021
9
Isolated left subclavian artery with right aortic arch and bilateral ductus arteriosus: a challenging fetal diagnosis. 61
32250490 2021
10
Arterial wall thickening normalizes arterial wall tension with growth in American alligators, Alligator mississippiensis. 61
33629153 2021
11
A large aortopulmonary window found in the setting of a right aortic arch with discontinuous pulmonary arteries. 61
33283308 2021
12
Right arch with prostaglandin-dependent coarctation and aberrant left carotid artery in a 22q11.2 deletion infant. 61
33618783 2021
13
Kommerell diverticulum, vascular ring, and aberrant left subclavian artery: LSCA translocation or Aortopexy. 61
33678405 2021
14
Hybrid Approach to a Right Aortic Arch With a Large Kommerell's Diverticulum. 61
32681839 2021
15
Descending aortic transection for recurrence of a pseudoaneurysm previously treated with a stent graft after extra-anatomical bypass for aortic coarctation: a case report. 61
33591403 2021
16
Right atrial isomerism diagnosed by STIC-HD live flow and autopsy: A case report. 61
33663125 2021
17
DiGeorge syndrome and anomalous right aortic arch with arch-on-arch and figure-of-eight configurations: Aortic sac maldevelopment and left brachiocephalic artery abnormal remodeling. 61
33679079 2021
18
Isolated left subclavian artery with right aortic arch: case report and literature review of 50 cases. 61
33475911 2021
19
Study on the views and methods of ultrasonic screening and diagnosis for abnormal aortic arch in infants. 61
33446185 2021
20
Ligation of the ligamentum arteriosum and aberrant left subclavian artery in five dogs in which persistent right aortic arch had been diagnosed. 61
33503311 2021
21
Aberrant Left Subclavian Artery-Esophageal Fistula in a Patient with a Prolonged Use of Nasogastric Tube: A Case Report and Literature Review. 61
33525727 2021
22
A case report of pulmonary artery sling and situs inversus incompletes. 61
33545997 2021
23
Intra-thoracic gossypiboma (textiloma) in a 6-year-old cocker spaniel. 61
32985695 2021
24
Influence of Fetal Diagnosis on Management of Vascular Rings. 61
33524348 2021
25
Vascular ring and sling in a fetus who developed esophageal and airway compression after birth. 61
33107081 2020
26
Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil. 61
32733742 2020
27
Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature. 61
33204593 2020
28
Laparoscopic and left thoracoscopic Ivor-Lewis esophagectomy for Siewert type II esophagogastric junction cancer with right aortic arch: a case report. 61
33206231 2020
29
How best to describe the pharyngeal arch arteries when the fifth arch does not exist? 61
33143776 2020
30
Successful Endovascular Repair of a Kommerell's Diverticulum and a Right-Sided Aortic Arch. 61
33234198 2020
31
Anatomic classification of the right aortic arch. 61
33109287 2020
32
Right aortic arch with mirror image branching pattern and isolated left brachiocephalic artery: A case report. 61
32793318 2020
33
Right Aortic Arch and Isolated Left Subclavian Artery: Prenatal and Postnatal Echocardiographic and Tomographic Imaging. 61
33117926 2020
34
Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype. 61
32651932 2020
35
Postnatal Outcome and Associated Anomalies of Prenatally Diagnosed Right Aortic Arch with Concomitant Right Ductal Arch: A Systematic Review and Meta-Analysis. 61
33076538 2020
36
Congenital Aortic Vascular Ring: In-Utero Sonographic Assessment of Tracheal Patency and Postnatal Outcome. 61
33091939 2020
37
Isolation of arch vessels: Imaging characteristics and associations on multidetector computed tomography angiography. 61
33090524 2020
38
Outcome and Associated Findings in Individuals with Pre- and Postnatal Diagnosis of Tetralogy of Fallot (TOF) and Prediction of Early Postnatal Intervention. 61
30453353 2020
39
Tetralogy of Fallot, right aortic arch with isolated left subclavian artery: Rare synchronous triple occurrence!!! 61
32696991 2020
40
Late transcatheter recanalization of a closed ductus arteriosus in a 2-month-old infant with tetralogy of Fallot and isolated left pulmonary artery. 61
33311929 2020
41
Incidence of systemic venous anomalies in tetralogy of Fallot on multidetector CT angiography: A retrospective single-center study of 973 patients. 61
32720410 2020
42
Isolation of left subclavian artery in Tetralogy of Fallot with right aortic arch: A rare association diagnosed on dual source CT. 61
30709719 2020
43
Incidental retroaortic innominate vein in a patient with acute aortic dissection. 61
32993735 2020
44
Key Features on the 3-Vessel View and 3-Vessel Tracheal View of Isolated Right Aortic Arch Anomalies. 61
32890326 2020
45
First MDCT evidence of ruptured aberrant left subclavian artery aneurysm in right aortic arch, Kommerell's diverticulum and extrapleural hematoma treated by emergency thoracic endovascular aortic repair. 61
32990689 2020
46
Outcomes of Surgical Repair of Vascular Rings and Slings in Children: A Word for the Asymptomatic. 61
32977012 2020
47
Right upper lobectomy in lung cancer with double aortic arch: A case report. 61
32578390 2020
48
The aortic arch in tetralogy of Fallot: types of branching and clinical implications. 61
32638692 2020
49
Prenatal Diagnosis and Postnatal Outcome of Eight Cases with Criss-Cross Heart - A Multicenter Case Series. 61
32674186 2020
50
Great vessel anomalies and their impact on the surgical treatment of tracheobronchomalacia. 61
31422856 2020

Variations for Right Aortic Arch

ClinVar genetic disease variations for Right Aortic Arch:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIAA1109 NM_015312.4(KIAA1109):c.9153del (p.Val3052fs) Deletion Pathogenic 978641 GRCh37: 4:123207811-123207811
GRCh38: 4:122286656-122286656
2 KIAA1109 NM_015312.4(KIAA1109):c.13849+11G>C SNV Uncertain significance 978642 GRCh37: 4:123271240-123271240
GRCh38: 4:122350085-122350085

Expression for Right Aortic Arch

Search GEO for disease gene expression data for Right Aortic Arch.

Pathways for Right Aortic Arch

GO Terms for Right Aortic Arch

Cellular components related to Right Aortic Arch according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.62 FLT4 ACVR2B

Biological processes related to Right Aortic Arch according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lymphangiogenesis GO:0001946 8.62 FLT4 ACVR2B

Molecular functions related to Right Aortic Arch according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 8.62 FLT4 ACVR2B

Sources for Right Aortic Arch

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....