Congenital Heart Defects, Multiple Types, 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
fatigue
variable cardiac phenotype
facial dysmorphism variably present
skeletal features have been noted in 1 family

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Cardiovascular diseases Respiratory diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 614980

MeSH ⁴³ D006330

MedGen ⁴⁰ C3150216 C3554279

SNOMED-CT via HPO ⁶⁹ 204368006 253395003 253549006 more

UMLS ⁷¹ C3554279

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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.

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Related Diseases for Congenital Heart Defects, Multiple Types, 2

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	Congenital Heart Defects, Multiple Types, 7

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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 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
otosclerosis
cholesteatoma
hearing loss, conductive
mastoid cell hyperpneumatization

Cardiovascular Heart:
atrial septal defect
bicuspid aortic valve
dilated cardiomyopathy
tetralogy of fallot
ventricular septal defect
more

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:
retrognathia
micrognathia
long philtrum
round face
wide forehead
more

Head And Neck Neck:
webbed neck

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

Respiratory Lung:
tachypnea
shortness of breath

Skeletal Limbs:
shoulder dislocation
radial head subluxation
short limbs
genua valga
recurrent elbow sprains
more

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)

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

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

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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

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Anatomical Context for Congenital Heart Defects, Multiple Types, 2

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

MalaCards : Heart, Skin

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Publications for Congenital Heart Defects, Multiple Types, 2

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

#	Title	Authors	PMID	Year
1	A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family. ⁵⁷ ⁵	Chen J...Liu Y	31959127	2020
2	TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis. ⁵⁷ ⁵	Morlino S...Micale L	31250519	2019
3	A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. ⁵⁷ ⁵	Ritelli M...Castori M	28386937	2018
4	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	Ackerman JP...Ackerman MJ	27452334	2016
5	Haploinsufficiency of TAB2 causes congenital heart defects in humans. ⁵⁷ ⁵	Thienpont B...Larsen LA	20493459	2010
6	Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot. ⁵⁷	Weiss K...Batista DA	26139517	2015
7	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	Richards S...ACMG Laboratory Quality Assurance Committee	25741868	2015

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Genes for Congenital Heart Defects, Multiple Types, 2

Genes related to Congenital Heart Defects, Multiple Types, 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TAB2	TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 2	Protein Coding	1343.13	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders Summaries (show sections)	20493459 25741868 27452334 (more) 28386937 31250519 31959127

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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:

⁷³

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

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Expression for Congenital Heart Defects, Multiple Types, 2

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

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Pathways for Congenital Heart Defects, Multiple Types, 2

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GO Terms for Congenital Heart Defects, Multiple Types, 2

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Sources for Congenital Heart Defects, Multiple Types, 2

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

CHTD2 MCID: CNG511 MIFTS: 26	Congenital Heart Defects, Multiple Types, 2 (CHTD2) Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Mental diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Congenital Heart Defects, Multiple Types, 2 (CHTD2)

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

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

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Congenital Heart Defects, Multiple Types, 2

Related Diseases for Congenital Heart Defects, Multiple Types, 2

Diseases in the Heart Disease family:

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

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

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

Anatomical Context for Congenital Heart Defects, Multiple Types, 2

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

Publications for Congenital Heart Defects, Multiple Types, 2

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

Genes for Congenital Heart Defects, Multiple Types, 2

Genes related to Congenital Heart Defects, Multiple Types, 2 (1 elite genes):

Variations for Congenital Heart Defects, Multiple Types, 2

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

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

Expression 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