Congenital Heart Defects, Multiple Types, 2 (CHTD2)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Mental diseases, Rare diseases, Respiratory diseases
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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 73 28 5 71
Chtd2 57 73
Congenital Heart Defects, Nonsyndromic, 2 57
Congenital Heart Defects Non-Syndromic 2 73



Autosomal dominant 57


57 (Updated 08-Dec-2022)
variable cardiac phenotype
facial dysmorphism variably present
skeletal features have been noted in 1 family


External Ids:

OMIM® 57 614980
MeSH 43 D006330
UMLS 71 C3554279

Summaries for Congenital Heart Defects, Multiple Types, 2

OMIM®: 57 Multiple types of congenital heart defects-2 (CHTD2) is characterized by variable congenital heart defects, primarily involving the valves, but also including septal defects or aneurysms, and complex defects such as tetralogy of Fallot. Dilated cardiomyopathy and myocardial noncompaction have been reported in some patients. In addition, some affected individuals exhibit facial dysmorphism and features of connective tissue disease (Thienpont et al., 2010; Ackerman et al., 2016; Ritelli et al., 2018). For a discussion of genetic heterogeneity of CHTD, see 306955. (614980) (Updated 08-Dec-2022)

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

UniProtKB/Swiss-Prot: 73 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.

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:

30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bicuspid aortic valve 30 HP:0001647
2 tetralogy of fallot 30 HP:0001636
3 ventricular septal defect 30 HP:0001629
4 atrial fibrillation 30 HP:0005110
5 aortic valve stenosis 30 HP:0001650
6 aortic aneurysm 30 HP:0004942
7 aortic regurgitation 30 HP:0001659
8 subvalvular aortic stenosis 30 HP:0001682
9 left ventricular outflow tract obstruction 30 HP:0032092
10 myxomatous mitral valve degeneration 30 HP:0004764

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen External Features:
inguinal hernia
umbilical hernia

Head And Neck Ears:
low-set ears
hearing loss, conductive
mastoid cell hyperpneumatization

Cardiovascular Heart:
atrial septal defect
bicuspid aortic valve
dilated cardiomyopathy
tetralogy of fallot
ventricular septal defect
Skeletal Pelvis:
coxa valga

Head And Neck Nose:
prominent nose
prominent columella

Head And Neck Eyes:
bilateral ptosis
downslanting palpebral fissures

Skeletal Feet:
flat feet

Skeletal Hands:
fifth-finger clinodactyly

Cardiovascular Vascular:
aortic dilation
left coronary artery dilation

Head And Neck Face:
long philtrum
round face
wide forehead
Head And Neck Neck:
webbed neck

Head And Neck Mouth:
wide mouth
bifid uvula
hypoplastic lingual frenulum
hypoplastic uvula
positive gorlin sign

Respiratory Lung:
shortness of breath

Skeletal Limbs:
shoulder dislocation
radial head subluxation
short limbs
genua valga
recurrent elbow sprains
Skin Nails Hair Skin:
palmar hyperlinearity
soft velvety skin
mildly hyperextensible skin
single transverse crease

Growth Height:
short stature (in some patients)

Skeletal Spine:
tall vertebral bodies
degenerative intervertebral disc disease
spondylolisthesis, l4-l5
stenosis of lumbar vertebral canal

Endocrine Features:
chronic thyroiditis (in some patients)

Clinical features from OMIM®:

614980 (Updated 08-Dec-2022)

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 28 TAB2

Anatomical Context for Congenital Heart Defects, Multiple Types, 2

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

MalaCards : Heart, Skin

Publications for Congenital Heart Defects, Multiple Types, 2

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

# Title Authors PMID Year
A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family. 57 5
31959127 2020
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis. 57 5
31250519 2019
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. 57 5
28386937 2018
Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome. 57 5
27452334 2016
Haploinsufficiency of TAB2 causes congenital heart defects in humans. 57 5
20493459 2010
Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot. 57
26139517 2015
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 5
25741868 2015

Variations for Congenital Heart Defects, Multiple Types, 2

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

5 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TAB2 NM_001292034.3(TAB2):c.622C>T (p.Pro208Ser) SNV Pathogenic
5211 rs267607101 GRCh37: 6:149699673-149699673
GRCh38: 6:149378537-149378537
2 TAB2 NM_001292034.3(TAB2):c.688C>A (p.Gln230Lys) SNV Pathogenic
5212 rs267607100 GRCh37: 6:149699739-149699739
GRCh38: 6:149378603-149378603
3 TAB2 NM_001292034.3(TAB2):c.1321C>T (p.Arg441Ter) SNV Pathogenic
488615 rs1554263321 GRCh37: 6:149700372-149700372
GRCh38: 6:149379236-149379236
4 TAB2 NM_001292034.3(TAB2):c.622_626del (p.Pro208fs) DEL Pathogenic
976750 rs1781486601 GRCh37: 6:149699673-149699677
GRCh38: 6:149378537-149378541
5 TAB2 NM_001292034.3(TAB2):c.1398dup (p.Thr467fs) DUP Pathogenic
996746 rs1781524947 GRCh37: 6:149700447-149700448
GRCh38: 6:149379311-149379312
6 TAB2 NM_001292034.3(TAB2):c.1491T>A (p.Tyr497Ter) SNV Pathogenic
561123 rs1562443558 GRCh37: 6:149700542-149700542
GRCh38: 6:149379406-149379406
7 TAB2 NM_001292034.3(TAB2):c.446C>G (p.Ser149Ter) SNV Pathogenic
1048629 GRCh37: 6:149699497-149699497
GRCh38: 6:149378361-149378361
8 TAB2 NM_001292034.3(TAB2):c.1491T>G (p.Tyr497Ter) SNV Pathogenic
1686244 GRCh37: 6:149700542-149700542
GRCh38: 6:149379406-149379406
9 TAB2 NM_001292034.3(TAB2):c.1764+1G>A SNV Pathogenic/Likely Pathogenic
Likely Pathogenic
1030404 rs1782223593 GRCh37: 6:149718901-149718901
GRCh38: 6:149397765-149397765
10 TAB2 NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter) SNV Pathogenic/Likely Pathogenic
561124 rs1479104927 GRCh37: 6:149699730-149699730
GRCh38: 6:149378594-149378594
11 TAB2 NM_001292034.3(TAB2):c.814C>T (p.Gln272Ter) SNV Likely Pathogenic
1325168 GRCh37: 6:149699865-149699865
GRCh38: 6:149378729-149378729
12 TAB2 NM_001292034.3(TAB2):c.548C>T (p.Pro183Leu) SNV Likely Pathogenic
1708259 GRCh37: 6:149699599-149699599
GRCh38: 6:149378463-149378463
13 TAB2 NM_001292034.3(TAB2):c.1104C>G (p.Tyr368Ter) SNV Likely Pathogenic
1683671 GRCh37: 6:149700155-149700155
GRCh38: 6:149379019-149379019
14 TAB2 NM_001292034.3(TAB2):c.878del (p.Ser293fs) DEL Likely Pathogenic
488614 rs1554263268 GRCh37: 6:149699929-149699929
GRCh38: 6:149378793-149378793
15 TAB2 NM_001292034.3(TAB2):c.1526del (p.Pro509fs) DEL Likely Pathogenic
974837 rs1781533816 GRCh37: 6:149700575-149700575
GRCh38: 6:149379439-149379439
16 TAB2 NM_001292034.3(TAB2):c.2051G>A (p.Cys684Tyr) SNV Uncertain Significance
561115 rs1562459581 GRCh37: 6:149730824-149730824
GRCh38: 6:149409688-149409688
17 TAB2 NM_001292034.3(TAB2):c.287G>A (p.Arg96Lys) SNV Uncertain Significance
1030405 rs1781470267 GRCh37: 6:149699338-149699338
GRCh38: 6:149378202-149378202
18 TAB2 NM_001292034.3(TAB2):c.1154C>T (p.Pro385Leu) SNV Uncertain Significance
1032655 rs71568273 GRCh37: 6:149700205-149700205
GRCh38: 6:149379069-149379069
19 TAB2 NM_001292034.3(TAB2):c.441del (p.Ala148fs) DEL Uncertain Significance
695114 rs1583139711 GRCh37: 6:149699492-149699492
GRCh38: 6:149378356-149378356

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

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

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

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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