CHTD6
MCID: CNG520
MIFTS: 22

Congenital Heart Defects, Multiple Types, 6 (CHTD6)

Categories: Cardiovascular diseases, Genetic diseases, Respiratory 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 74
Transposition of the Great Arteries, Dextro-Looped 3 74 29 6 72
Chtd6 57 74
Transposition of the Great Arteries, Dextro-Looped 3, Formerly; Dtga3, Formerly 57
Transposition of the Great Arteries, Dextro-Looped 3, Formerly 57
Heart Defects, Congenital, Multiple Types, Type 6 40
Dtga3, Formerly 57
Dtga3 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 57 613854
MeSH 44 D006330
MedGen 42 C3151221
UMLS 72 C3151221

Summaries for Congenital Heart Defects, Multiple Types, 6

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)

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 : 74 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 11.3

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

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

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 coarctation of aorta 32 HP:0001680
2 tetralogy of fallot 32 HP:0001636
3 ventricular septal defect 32 HP:0001629
4 pulmonic stenosis 32 HP:0001642
5 transposition of the great arteries 32 HP:0001669
6 secundum atrial septal defect 32 HP:0001684
7 pulmonary artery atresia 32 HP:0004935
8 double outlet right ventricle 32 HP:0001719
9 right aortic arch 32 HP:0012020
10 single ventricle 32 HP:0001750
11 complete atrioventricular canal defect 32 HP:0001674
12 total anomalous pulmonary venous return 32 HP:0005160
13 hypoplastic pulmonary veins 32 HP:0005304
14 left ventricular outflow tract obstruction 32 HP:0032092

Symptoms via clinical synopsis from OMIM:

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

Cardiovascular Vascular:
right aortic arch
total anomalous pulmonary venous return
hypoplastic pulmonary veins
coarctation of the aorta
pulmonary stenosis
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 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

Articles related to Congenital Heart Defects, Multiple Types, 6:

# Title Authors PMID Year
1
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. 8 71
28991257 2017
2
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. 8 71
17924340 2007
3
Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). 71
20413652 2010
4
Right atrial isomerism in four siblings. 71
14648004 2004

Variations for Congenital Heart Defects, Multiple Types, 6

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GDF1 NM_001492.6(GDF1): c.681C> A (p.Cys227Ter) single nucleotide variant Pathogenic rs121434422 19:18979844-18979844 19:18869035-18869035
2 GDF1 NM_001492.6(GDF1): c.1091T> C (p.Met364Thr) single nucleotide variant Likely pathogenic rs374016704 19:18979434-18979434 19:18868625-18868625

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

74
# Symbol AA change Variation ID SNP ID
1 GDF1 p.Ala318Thr VAR_065338 rs106479313
2 GDF1 p.Met364Thr VAR_080780 rs374016704

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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