CHTD6
MCID: CNG520
MIFTS: 23

Congenital Heart Defects, Multiple Types, 6 (CHTD6)

Categories: Cardiovascular diseases, Genetic diseases, Respiratory diseases, Skin 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 58 76
Transposition of the Great Arteries, Dextro-Looped 3 76 30 6 74
Chtd6 58 76
Transposition of the Great Arteries, Dextro-Looped 3, Formerly; Dtga3, Formerly 58
Transposition of the Great Arteries, Dextro-Looped 3, Formerly 58
Heart Defects, Congenital, Multiple Types, Type 6 41
Transposition of Great Arteries, Dextro-Looped 3 13
Dtga3, Formerly 58
Dtga3 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
congenital heart defects, multiple types, 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Congenital Heart Defects, Multiple Types, 6

OMIM : 58 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)

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 phenotypes are coarctation of aorta and tetralogy of fallot

UniProtKB/Swiss-Prot : 76 Congenital heart defects, multiple types, 6: An autosomal dominant disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, transposition of the great arteries, double-outlet right ventricle, total anomalous pulmonary venous return, pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect, and hypoplastic left or right ventricle.

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 11.1

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

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

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 coarctation of aorta 33 HP:0001680
2 tetralogy of fallot 33 HP:0001636
3 ventricular septal defect 33 HP:0001629
4 pulmonic stenosis 33 HP:0001642
5 transposition of the great arteries 33 HP:0001669
6 secundum atrial septal defect 33 HP:0001684
7 pulmonary artery atresia 33 HP:0004935
8 double outlet right ventricle 33 HP:0001719
9 right aortic arch 33 HP:0012020
10 complete atrioventricular canal defect 33 HP:0001674
11 total anomalous pulmonary venous return 33 HP:0005160
12 single ventricle 33 HP:0001750
13 hypoplastic pulmonary veins 33 HP:0005304

Symptoms via clinical synopsis from OMIM:

58
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

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 30 GDF1

Anatomical Context for Congenital Heart Defects, Multiple Types, 6

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

42
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:

76
# Symbol AA change Variation ID SNP ID
1 GDF1 p.Ala318Thr VAR_065338 rs106479313
2 GDF1 p.Met364Thr VAR_080780 rs374016704

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 Likely pathogenic rs374016704 GRCh37 Chromosome 19, 18979434: 18979434
4 GDF1 NM_001492.5(GDF1): c.1091T> C (p.Met364Thr) single nucleotide variant Likely 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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