MCID: CNG520
MIFTS: 20

Congenital Heart Defects, Multiple Types, 6

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Congenital Heart Defects, Multiple Types, 6

MalaCards integrated aliases for Congenital Heart Defects, Multiple Types, 6:

Name: Congenital Heart Defects, Multiple Types, 6 57
Transposition of the Great Arteries, Dextro-Looped 3 29 6 73
Transposition of the Great Arteries, Dextro-Looped 3, Formerly; Dtga3, Formerly 57
Transposition of the Great Arteries, Dextro-Looped 3, Formerly 57
Transposition of the Great Arteries Dextro-Looped 3 75
Heart Defects, Congenital, Multiple Types, Type 6 40
Transposition of Great Arteries, Dextro-Looped 3 13
Dtga3, Formerly 57
Chtd6 57
Dtga3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
congenital heart defects, multiple types, 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613854
MedGen 42 C3151221
MeSH 44 D014188
SNOMED-CT via HPO 69 263681008 204296002 26146002
UMLS 73 C3151221

Summaries for Congenital Heart Defects, Multiple Types, 6

UniProtKB/Swiss-Prot : 75 Transposition of the great arteries dextro-looped 3: A congenital heart defect consisting 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 left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries.

MalaCards based summary : Congenital Heart Defects, Multiple Types, 6, also known as transposition of the great arteries, dextro-looped 3, is related to dextro-looped transposition of the great arteries 3. An important gene associated with Congenital Heart Defects, Multiple Types, 6 is GDF1 (Growth Differentiation Factor 1). Affiliated tissues include heart and lung, and related phenotype is transposition of the great arteries.

OMIM : 57 Multiple types of congenital heart defects are associated with mutation in the GDF1 gene, including tetralogy of fallot (TOF), transposition of the great arteries (TGA), double-outlet right ventricle (DORV), total anomalous pulmonary venous return (TAPVR), pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect (VSD), and hypoplastic left or right ventricle (Jin et al., 2017). For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955. (613854)

Related Diseases for Congenital Heart Defects, Multiple Types, 6

Diseases in the Heart Disease family:

Congenital Heart Defects, Multiple Types, 6 Congenital Heart Defects, Multiple Types, 3
Congenital Heart Defects, Multiple Types, 2 Congenital Heart Defects, Multiple Types, 4
Congenital Heart Defects, Multiple Types, 5

Diseases related to Congenital Heart Defects, Multiple Types, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dextro-looped transposition of the great arteries 3 10.9

Symptoms & Phenotypes for Congenital Heart Defects, Multiple Types, 6

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
tetralogy of fallot
ventricular septal defect
double-outlet right ventricle
atrioventricular canal
hypoplastic right ventricle
more
Respiratory Lung:
hypoplastic left lung (rare)

Cardiovascular Vascular:
right aortic arch
coarctation of the aorta
total anomalous pulmonary venous return
pulmonary stenosis
pulmonary atresia
more
Neurologic Central Nervous System:
neurodevelopmental disorders (in some patients)


Clinical features from OMIM:

613854

Human phenotypes related to Congenital Heart Defects, Multiple Types, 6:

32
# Description HPO Frequency HPO Source Accession
1 transposition of the great arteries 32 HP:0001669

Drugs & Therapeutics for Congenital Heart Defects, Multiple Types, 6

Search Clinical Trials , NIH Clinical Center for Congenital Heart Defects, Multiple Types, 6

Genetic Tests for Congenital Heart Defects, Multiple Types, 6

Genetic tests related to Congenital Heart Defects, Multiple Types, 6:

# Genetic test Affiliating Genes
1 Transposition of the Great Arteries, Dextro-Looped 3 29 GDF1

Anatomical Context for Congenital Heart Defects, Multiple Types, 6

MalaCards organs/tissues related to Congenital Heart Defects, Multiple Types, 6:

41
Heart, Lung

Publications for Congenital Heart Defects, Multiple Types, 6

Variations for Congenital Heart Defects, Multiple Types, 6

UniProtKB/Swiss-Prot genetic disease variations for Congenital Heart Defects, Multiple Types, 6:

75
# Symbol AA change Variation ID SNP ID
1 GDF1 p.Ala318Thr VAR_065338

ClinVar genetic disease variations for Congenital Heart Defects, Multiple Types, 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF1 NM_001492.5(GDF1): c.681C> A (p.Cys227Ter) single nucleotide variant Pathogenic rs121434422 GRCh37 Chromosome 19, 18979844: 18979844
2 GDF1 NM_001492.5(GDF1): c.681C> A (p.Cys227Ter) single nucleotide variant Pathogenic rs121434422 GRCh38 Chromosome 19, 18869035: 18869035
3 GDF1 NM_001492.5(GDF1): c.1091T> C (p.Met364Thr) single nucleotide variant Pathogenic rs374016704 GRCh37 Chromosome 19, 18979434: 18979434
4 GDF1 NM_001492.5(GDF1): c.1091T> C (p.Met364Thr) single nucleotide variant Pathogenic rs374016704 GRCh38 Chromosome 19, 18868625: 18868625

Expression for Congenital Heart Defects, Multiple Types, 6

Search GEO for disease gene expression data for Congenital Heart Defects, Multiple Types, 6.

Pathways for Congenital Heart Defects, Multiple Types, 6

GO Terms for Congenital Heart Defects, Multiple Types, 6

Sources for Congenital Heart Defects, Multiple Types, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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