MCID: ISL054
MIFTS: 12

Isolated Congenitally Uncorrected Transposition of the Great Arteries

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Congenitally Uncorrected Transposition of the Great...

MalaCards integrated aliases for Isolated Congenitally Uncorrected Transposition of the Great Arteries:

Name: Isolated Congenitally Uncorrected Transposition of the Great Arteries 58
Isolated Congenitally Uncorrected Transposition of the Great Vessels 58

Characteristics:

Orphanet epidemiological data:

58
isolated congenitally uncorrected transposition of the great arteries
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q20.3
Orphanet 58 ORPHA216718

Summaries for Isolated Congenitally Uncorrected Transposition of the Great...

MalaCards based summary : Isolated Congenitally Uncorrected Transposition of the Great Arteries, also known as isolated congenitally uncorrected transposition of the great vessels, is related to total anomalous pulmonary venous return 1 and pulmonary valve disease. An important gene associated with Isolated Congenitally Uncorrected Transposition of the Great Arteries is CFC1 (Cripto, FRL-1, Cryptic Family 1). Affiliated tissues include heart.

Related Diseases for Isolated Congenitally Uncorrected Transposition of the Great...

Graphical network of the top 20 diseases related to Isolated Congenitally Uncorrected Transposition of the Great Arteries:



Diseases related to Isolated Congenitally Uncorrected Transposition of the Great Arteries

Symptoms & Phenotypes for Isolated Congenitally Uncorrected Transposition of the Great...

Drugs & Therapeutics for Isolated Congenitally Uncorrected Transposition of the Great...

Search Clinical Trials , NIH Clinical Center for Isolated Congenitally Uncorrected Transposition of the Great Arteries

Genetic Tests for Isolated Congenitally Uncorrected Transposition of the Great...

Anatomical Context for Isolated Congenitally Uncorrected Transposition of the Great...

MalaCards organs/tissues related to Isolated Congenitally Uncorrected Transposition of the Great Arteries:

40
Heart

Publications for Isolated Congenitally Uncorrected Transposition of the Great...

Variations for Isolated Congenitally Uncorrected Transposition of the Great...

Expression for Isolated Congenitally Uncorrected Transposition of the Great...

Search GEO for disease gene expression data for Isolated Congenitally Uncorrected Transposition of the Great Arteries.

Pathways for Isolated Congenitally Uncorrected Transposition of the Great...

GO Terms for Isolated Congenitally Uncorrected Transposition of the Great...

Biological processes related to Isolated Congenitally Uncorrected Transposition of the Great Arteries according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anterior/posterior pattern specification GO:0009952 8.96 ZIC3 CFC1
2 determination of left/right symmetry GO:0007368 8.62 ZIC3 CFC1

Sources for Isolated Congenitally Uncorrected Transposition of the Great...

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
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