CHTD2
MCID: CNG511
MIFTS: 20

Congenital Heart Defects, Multiple Types, 2 (CHTD2)

Categories: Cardiovascular diseases, Genetic diseases, Respiratory diseases, Skin 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 58 76 30 6 74
Chtd2 58 76
Congenital Heart Defects, Nonsyndromic, 2 58
Congenital Heart Disease, Nonsyndromic, 2 13
Congenital Heart Defects Non-Syndromic 2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable cardiac phenotype


HPO:

33
congenital heart defects, multiple types, 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Congenital Heart Defects, Multiple Types, 2

UniProtKB/Swiss-Prot : 76 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 skin, and related phenotypes are bicuspid aortic valve 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

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

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 bicuspid aortic valve 33 HP:0001647
2 tetralogy of fallot 33 HP:0001636
3 ventricular septal defect 33 HP:0001629
4 aortic valve stenosis 33 HP:0001650
5 atrial fibrillation 33 HP:0005110
6 aortic regurgitation 33 HP:0001659
7 aortic aneurysm 33 HP:0004942
8 myxomatous mitral valve degeneration 33 HP:0004764
9 subvalvular aortic stenosis 33 HP:0001682
10 left ventricular outflow tract obstruction 33 HP:0032092

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
bicuspid aortic valve
tetralogy of fallot
ventricular septal defect
aortic valve stenosis
atrial fibrillation
more
Cardiovascular Vascular:
aortic dilation

Clinical features from OMIM:

614980

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 30 TAB2

Anatomical Context for Congenital Heart Defects, Multiple Types, 2

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

42
Heart, Skin

Publications for Congenital Heart Defects, Multiple Types, 2

Articles related to Congenital Heart Defects, Multiple Types, 2:

# Title Authors Year
1
Haploinsufficiency of TAB2 causes congenital heart defects in humans. ( 20493459 )
2010

Variations for Congenital Heart Defects, Multiple Types, 2

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

76
# 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 (show all 14)
# 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 rs1554263268 GRCh37 Chromosome 6, 149699929: 149699929
6 TAB2 NM_015093.5(TAB2): c.878delC (p.Ser293Tyrfs) deletion Likely pathogenic rs1554263268 GRCh38 Chromosome 6, 149378793: 149378793
7 TAB2 NM_015093.5(TAB2): c.1321C> T (p.Arg441Ter) single nucleotide variant Pathogenic rs1554263321 GRCh37 Chromosome 6, 149700372: 149700372
8 TAB2 NM_015093.5(TAB2): c.1321C> T (p.Arg441Ter) single nucleotide variant Pathogenic rs1554263321 GRCh38 Chromosome 6, 149379236: 149379236
9 TAB2 NM_015093.5(TAB2): c.679C> T (p.Arg227Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 6, 149699730: 149699730
10 TAB2 NM_015093.5(TAB2): c.679C> T (p.Arg227Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 6, 149378594: 149378594
11 TAB2 NM_015093.5(TAB2): c.1491T> A (p.Tyr497Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 149700542: 149700542
12 TAB2 NM_015093.5(TAB2): c.1491T> A (p.Tyr497Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 149379406: 149379406
13 TAB2 NM_015093.5(TAB2): c.2051G> A (p.Cys684Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 149730824: 149730824
14 TAB2 NM_015093.5(TAB2): c.2051G> A (p.Cys684Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 149409688: 149409688

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 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
Content
Loading form....