MCID: ART161
MIFTS: 9

Aortic Malformation

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Aortic Malformation

MalaCards integrated aliases for Aortic Malformation:

Name: Aortic Malformation 58

Classifications:

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


External Ids:

Orphanet 58 ORPHA98718

Summaries for Aortic Malformation

MalaCards based summary : Aortic Malformation is related to aortic valve disease 1 and coarctation of aorta. Affiliated tissues include lung.

Related Diseases for Aortic Malformation

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

# Related Disease Score Top Affiliating Genes
1 aortic valve disease 1 9.7
2 coarctation of aorta 9.7
3 gonadal dysgenesis 9.7
4 turner syndrome 9.7
5 aneurysm 9.7
6 cerebral aneurysms 9.7

Graphical network of the top 20 diseases related to Aortic Malformation:



Diseases related to Aortic Malformation

Symptoms & Phenotypes for Aortic Malformation

Drugs & Therapeutics for Aortic Malformation

Search Clinical Trials , NIH Clinical Center for Aortic Malformation

Genetic Tests for Aortic Malformation

Anatomical Context for Aortic Malformation

MalaCards organs/tissues related to Aortic Malformation:

40
Lung

Publications for Aortic Malformation

Articles related to Aortic Malformation:

(show all 17)
# Title Authors PMID Year
1
Perioperative blood product transfusion of two different perfusion strategies on pediatric patients undergoing aortic arch surgery. 61
31315148 2020
2
Patient-specific three-dimensional printing for Kommerell's diverticulum. 61
29290421 2018
3
Abdominal aorta interruption and CHD. 61
25547159 2015
4
Unique Association of Rare Cardiovascular Disease in an Athlete With Ventricular Arrhythmias. 61
26535189 2015
5
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene. 61
22488877 2012
6
Prenatal double aortic arch presenting with a right aortic arch and an anomalous artery arising from the ascending aorta. 61
20033491 2010
7
[Dyspnea of effort associated with a congenital aortic malformation]. 61
17314747 2006
8
[Familial supravalvular aortic stenosis. Investigation in a family and review of the literature]. 61
9295957 1997
9
Persistence of hypoplastic and recoarcted fifth aortic arch associated with type A aortic arch interruption: surgical and balloon angioplasty results in an infant. 61
1535439 1992
10
[Magnetic resonance tomography. Asthma turned out to be aortic malformation]. 61
2263110 1990
11
[Hypertensive retinopathy in patients with aortic coarctation]. 61
3245726 1988
12
[Erosion hemorrhage from an esophago-aortic fistula in congenital anomaly of the thoracic aorta as a fatal complication of a stomach tube]. 61
6650804 1983
13
Lung volumes and pulmonary gas exchange after coarctectomy. 61
7446095 1980
14
[Rare abnormalities of the circle of Willis: infra-optic pathway of the anterior cerebral arteries (author's transl)]. 61
7464977 1980
15
[Early detection and observation of the evolution of congenital malformations of the aorta in newborn infants, infants and young children]. 61
263662 1979
16
Ileum-like congenital elongation of the proximal descending aorta. 61
699940 1978
17
[Considerations on 4 cases of congenital familial aortic malformation]. 61
5844593 1965

Variations for Aortic Malformation

Expression for Aortic Malformation

Search GEO for disease gene expression data for Aortic Malformation.

Pathways for Aortic Malformation

GO Terms for Aortic Malformation

Sources for Aortic Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....