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 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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 614980

MedGen ⁴² C3554279 C3150216

MeSH ⁴⁴ D006330

SNOMED-CT via HPO ⁶⁹ 263681008 253549006 30288003 more

UMLS ⁷³ C3554279

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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

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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

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 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

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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 ²⁹	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:

⁴¹

Heart

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Publications for Congenital Heart Defects, Multiple Types, 2

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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 ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ 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:

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

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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 BioSystems

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³⁶ IUPHAR

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⁵⁷ OMIM

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⁵⁹ Orphanet

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⁶⁸ SNOMED-CT

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⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

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⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia