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 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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Cardiovascular diseases Skin diseases Respiratory diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 614980

MeSH ⁴⁵ D006330

MedGen ⁴³ C3150216 C3554279

SNOMED-CT via HPO ⁷⁰ 204368006 253395003 253549006 more

UMLS ⁷⁴ C3554279

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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

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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

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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 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

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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 ³⁰	TAB2

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Anatomical Context for Congenital Heart Defects, Multiple Types, 2

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

⁴²

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	Year
1	Haploinsufficiency of TAB2 causes congenital heart defects in humans. ( 20493459 )	Thienpont B...Larsen LA	2010

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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	PubmedIds
1	TAB2	TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 2	Protein Coding	1338.97	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Summaries Variants (show sections)	20493459

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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

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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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¹ BioSystems

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²⁴ GeneHancer via GeneCards

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²⁹ GO

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³⁴ ICD10

³⁵ ICD10 via Orphanet

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³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

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⁴² MalaCards

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⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

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:

OMIM:

HPO:

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

MalaCards 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

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

ClinVar 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