MCID: CNG511
MIFTS: 18

Congenital Heart Defects, Multiple Types, 2

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Congenital Heart Defects, Multiple Types, 2

MalaCards integrated aliases for Congenital Heart Defects, Multiple Types, 2:

Name: Congenital Heart Defects, Multiple Types, 2 57 75 29 6 73
Chtd2 57 75
Congenital Heart Defects, Nonsyndromic, 2 57
Congenital Heart Disease, Nonsyndromic, 2 13
Congenital Heart Defects Non-Syndromic 2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable cardiac phenotype


HPO:

32
congenital heart defects, multiple types, 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Congenital Heart Defects, Multiple Types, 2

UniProtKB/Swiss-Prot : 75 Congenital heart defects, multiple types, 2: A disease characterized by congenital developmental abnormalities involving structures of the heart. CHTD2 patients have left ventricular outflow tract obstruction, subaortic stenosis, residual aortic regurgitation, atrial fibrillation, bicuspid aortic valve and aortic dilation.

MalaCards based summary : Congenital Heart Defects, Multiple Types, 2, is also known as chtd2. An important gene associated with Congenital Heart Defects, Multiple Types, 2 is TAB2 (TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 2). Affiliated tissues include heart, and related phenotypes are ventricular septal defect and tetralogy of fallot

Description from OMIM: 614980

Related Diseases for Congenital Heart Defects, Multiple Types, 2

Symptoms & Phenotypes for Congenital Heart Defects, Multiple Types, 2

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
bicuspid aortic valve
myxomatous mitral valve
myxomatous tricuspid valve
ventricular septal defect
aortic valve stenosis
more
Cardiovascular Vascular:
aortic dilation


Clinical features from OMIM:

614980

Human phenotypes related to Congenital Heart Defects, Multiple Types, 2:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 ventricular septal defect 32 HP:0001629
2 tetralogy of fallot 32 HP:0001636
3 bicuspid aortic valve 32 HP:0001647
4 aortic valve stenosis 32 HP:0001650
5 aortic regurgitation 32 HP:0001659
6 subvalvular aortic stenosis 32 HP:0001682
7 myxomatous mitral valve degeneration 32 HP:0004764
8 aortic aneurysm 32 HP:0004942
9 atrial fibrillation 32 HP:0005110

Drugs & Therapeutics for Congenital Heart Defects, Multiple Types, 2

Search Clinical Trials , NIH Clinical Center for Congenital Heart Defects, Multiple Types, 2

Genetic Tests for Congenital Heart Defects, Multiple Types, 2

Genetic tests related to Congenital Heart Defects, Multiple Types, 2:

# Genetic test Affiliating Genes
1 Congenital Heart Defects, Multiple Types, 2 29 TAB2

Anatomical Context for Congenital Heart Defects, Multiple Types, 2

MalaCards organs/tissues related to Congenital Heart Defects, Multiple Types, 2:

41
Heart

Publications for Congenital Heart Defects, Multiple Types, 2

Variations for Congenital Heart Defects, Multiple Types, 2

UniProtKB/Swiss-Prot genetic disease variations for Congenital Heart Defects, Multiple Types, 2:

75
# Symbol AA change Variation ID SNP ID
1 TAB2 p.Pro208Ser VAR_063774 rs267607101
2 TAB2 p.Gln230Lys VAR_063775 rs267607100

ClinVar genetic disease variations for Congenital Heart Defects, Multiple Types, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TAB2 NM_015093.5(TAB2): c.622C> T (p.Pro208Ser) single nucleotide variant Pathogenic rs267607101 GRCh37 Chromosome 6, 149699673: 149699673
2 TAB2 NM_015093.5(TAB2): c.622C> T (p.Pro208Ser) single nucleotide variant Pathogenic rs267607101 GRCh38 Chromosome 6, 149378537: 149378537
3 TAB2 NM_015093.5(TAB2): c.688C> A (p.Gln230Lys) single nucleotide variant Pathogenic rs267607100 GRCh37 Chromosome 6, 149699739: 149699739
4 TAB2 NM_015093.5(TAB2): c.688C> A (p.Gln230Lys) single nucleotide variant Pathogenic rs267607100 GRCh38 Chromosome 6, 149378603: 149378603
5 TAB2 NM_015093.5(TAB2): c.878delC (p.Ser293Tyrfs) deletion Likely pathogenic GRCh37 Chromosome 6, 149699929: 149699929
6 TAB2 NM_015093.5(TAB2): c.878delC (p.Ser293Tyrfs) deletion Likely pathogenic GRCh38 Chromosome 6, 149378793: 149378793
7 TAB2 NM_015093.5(TAB2): c.1321C> T (p.Arg441Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 149700372: 149700372
8 TAB2 NM_015093.5(TAB2): c.1321C> T (p.Arg441Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 149379236: 149379236

Expression for Congenital Heart Defects, Multiple Types, 2

Search GEO for disease gene expression data for Congenital Heart Defects, Multiple Types, 2.

Pathways for Congenital Heart Defects, Multiple Types, 2

GO Terms for Congenital Heart Defects, Multiple Types, 2

Sources for Congenital Heart Defects, Multiple Types, 2

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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