Atrial Septal Defect 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Atrial Septal Defect 3

MalaCards integrated aliases for Atrial Septal Defect 3:

Name: Atrial Septal Defect 3 ⁵⁷ ¹² ⁷⁴ ²⁹ ¹³ ⁶ ⁷²

Asd3 ⁵⁷ ¹² ⁷⁴

Atrial Heart Septal Defect 3 ¹² ¹⁵

Septal Defect, Atrial, Type 3 ⁴⁰

Characteristics:

HPO:

³²

atrial septal defect 3:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

Congenital malformations of cardiac septa

Atrial septal defect

External Ids:

Disease Ontology ¹² DOID:0110108

OMIM ⁵⁷ 614089 PS108800

MeSH ⁴⁴ D006344

ICD10 ³³ Q21.1

MedGen ⁴² C1834527 C3279790

UMLS ⁷² C3279790

Sources

Summaries for Atrial Septal Defect 3

UniProtKB/Swiss-Prot : ⁷⁴ Atrial septal defect 3: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.

MalaCards based summary : Atrial Septal Defect 3, also known as asd3, is related to sick sinus syndrome 3 and nephrotic syndrome, type 6. An important gene associated with Atrial Septal Defect 3 is MYH6 (Myosin Heavy Chain 6), and among its related pathways/superpathways are Primary Focal Segmental Glomerulosclerosis FSGS and Nephrin interactions. Affiliated tissues include heart and t cells, and related phenotypes are secundum atrial septal defect and cardiovascular system

Disease Ontology : ¹² An atrial heart septal defect type 3 that has material basis in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12.

More information from OMIM: 614089 PS108800

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Related Diseases for Atrial Septal Defect 3

Diseases in the Atrial Septal Defect 2 family:

Atrial Septal Defect 1	Atrial Septal Defect 4
Atrial Septal Defect 5	Atrial Septal Defect 6
Atrial Septal Defect 3	Atrial Septal Defect 8
Atrial Septal Defect 9

Diseases related to Atrial Septal Defect 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)

#	Related Disease	Score	Top Affiliating Genes
1	sick sinus syndrome 3	10.3	MYH6 MIR208A
2	nephrotic syndrome, type 6	10.1	NPHS2 NPHS1
3	kidney hypertrophy	10.1	NPHS2 NPHS1
4	hypoparathyroidism, sensorineural deafness, and renal disease	10.0	NPHS2 NPHS1
5	sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis	10.0	NPHS2 CD2AP
6	patent foramen ovale	10.0	MYH6 CITED2
7	diffuse mesangial sclerosis	10.0	NPHS2 NPHS1
8	heart septal defect	10.0
9	atrial heart septal defect	10.0
10	nephrosclerosis	10.0	NPHS2 NPHS1
11	galloway-mowat syndrome	9.9	NPHS2 NPHS1
12	end stage renal failure	9.9	NPHS2 NPHS1
13	nail-patella syndrome	9.9	NPHS2 CD2AP
14	familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis	9.6	NPHS2 NPHS1 CD2AP
15	nephrotic syndrome	9.6	NPHS2 NPHS1 CD2AP
16	familial nephrotic syndrome	9.6	NPHS2 NPHS1 CD2AP
17	nephrotic syndrome, type 1	9.6	NPHS2 NPHS1 CD2AP
18	denys-drash syndrome	9.6	NPHS2 NPHS1 CD2AP
19	lipoid nephrosis	9.6	NPHS2 NPHS1 CD2AP
20	frasier syndrome	9.5	NPHS2 NPHS1 CD2AP
21	membranous nephropathy	9.5	NPHS2 NPHS1 CD2AP
22	focal segmental glomerulosclerosis	9.4	NPHS2 NPHS1 CD2AP
23	congestive heart failure	9.4	REN MYH6
24	iga glomerulonephritis	9.3	REN NPHS2 NPHS1
25	urinary system disease	9.3	REN NPHS2 NPHS1
26	heart disease	9.2	REN MYH6 CITED2
27	kidney disease	8.7	REN NPHS2 NPHS1 CD2AP

Graphical network of the top 20 diseases related to Atrial Septal Defect 3:

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Symptoms & Phenotypes for Atrial Septal Defect 3

Human phenotypes related to Atrial Septal Defect 3:

³²

#	Description	HPO Frequency	HPO Source Accession
1	secundum atrial septal defect ³²		HP:0001684

Clinical features from OMIM:

614089

MGI Mouse Phenotypes related to Atrial Septal Defect 3:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.35	CD2AP CITED2 MYH6 NPHS2 REN
2	renal/urinary system	MP:0005367	9.02	CD2AP CITED2 NPHS1 NPHS2 REN

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Drugs & Therapeutics for Atrial Septal Defect 3

Search Clinical Trials , NIH Clinical Center for Atrial Septal Defect 3

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Genetic Tests for Atrial Septal Defect 3

Genetic tests related to Atrial Septal Defect 3:

#	Genetic test	Affiliating Genes
1	Atrial Septal Defect 3 ²⁹	MYH6

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Anatomical Context for Atrial Septal Defect 3

MalaCards organs/tissues related to Atrial Septal Defect 3:

⁴¹

Heart, T Cells

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Publications for Atrial Septal Defect 3

Articles related to Atrial Septal Defect 3:

(show all 17)

#	Title	Authors	PMID	Year
1	Mutation in myosin heavy chain 6 causes atrial septal defect. ⁸ ⁷¹	Ching YH...Brook JD	15735645	2005
2	[Successful Staged Surgical Management for Double Outlet Right Ventricle with Ebstein's Anomaly and Aortic Coarctation;Report of a Case]. ³⁸	Nishioka M...Nagata N	30185760	2018
3	Photoprotective potential of metabolites isolated from algae-associated fungi Annulohypoxylon stygium. ³⁸	Maciel OMC...Debonsi HM	29175758	2018
4	The importance of heart murmur in the neonatal period and justification of echocardiographic review. ³⁸	Kardasevic M...Kardasevic A	25568554	2014
5	[Association between nuclear factor of activated T cells 1 gene mutation and simple congenital heart disease in children]. ³⁸	Han ZQ...Hu DY	21055286	2010
6	Conscious cardiac surgery with cardiopulmonary bypass using thoracic epidural anesthesia without endotracheal general anesthesia. ³⁸	Chakravarthy M...Sudhakar N	16130054	2005
7	Large thrombus at the site of primary sutured atrial septal defect associated with pulmonary embolism and treatment by thrombolysis. ³⁸	Dinckal MH...Aksoy M	12859367	2003
8	Growth of an atrial septal defect: missing the window for transcatheter closure. ³⁸	Tortoriello TA...Grifka RG	12189410	2002
9	[Results of surgery after failed mitral percutaneous dilatation]. ³⁸	Mathieu P...Pelletier LC	10584383	1999
10	Atrial septal aneurysm: a new classification in two hundred five adults. ³⁸	Olivares-Reyes A...Ong K	9282354	1997
11	Video-thoracoscopic surgical interruption of patent ductus arteriosus. Routine experience in 332 pediatric cases. ³⁸	Laborde F...Petrie J	9237586	1997
12	Aortopulmonary septal defects. A review of the literature and report of ten cases. ³⁸	Bertolini A...Marasini M	8040168	1994
13	[Surgical correction of congenital heart defects in infants and young children]. ³⁸	Malyshev IuI...Kuvatov VA	1782055	1991
14	[Changes in ventricular depolarization and repolarization in 116 cases of surgically treated interauricular communication]. ³⁸	de Micheli A...Casanova JM	2604487	1989
15	Complete repair of pulmonary atresia with nonconfluent pulmonary arteries. ³⁸	Puga FJ...Mair DD	6849580	1983
16	Mitral valve lesion associated with secundum atrial septal defect. Analysis by real time two dimensional echocardiography. ³⁸	Nagata S...Fujita T	6821611	1983
17	REPAIR OF ATRIAL SEPTAL DEFECT. 3. THORACIC THEATRE. ³⁸	THOMAS G	14105511	1964

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Genes for Atrial Septal Defect 3

Genes related to Atrial Septal Defect 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MYH6	Myosin Heavy Chain 6	Protein Coding	1339.08	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁴ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	15735645
2	CITED2	Cbp/P300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 2	Protein Coding	15.94	DISEASES inferred ¹⁵
3	NPHS2	NPHS2 Stomatin Family Member, Podocin	Protein Coding	14.9	DISEASES inferred ¹⁵
4	NPHS1	NPHS1 Adhesion Molecule, Nephrin	Protein Coding	14.64	DISEASES inferred ¹⁵
5	CD2AP	CD2 Associated Protein	Protein Coding	14.57	DISEASES inferred ¹⁵
6	REN	Renin	Protein Coding	12.98	DISEASES inferred ¹⁵
7	MIR208A	MicroRNA 208a	RNA Gene	8.22	GeneCards inferred via : Variants (show sections)
8	ENPEP	Glutamyl Aminopeptidase	Protein Coding	6.98	DISEASES inferred ¹⁵

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Variations for Atrial Septal Defect 3

ClinVar genetic disease variations for Atrial Septal Defect 3:

⁶ (show all 14)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	MYH6	NM_002471.3(MYH6): c.2459T> A (p.Ile820Asn)	single nucleotide variant	Pathogenic	rs267606903	14:23863503-23863503	14:23394294-23394294
2	MYH6	NM_002471.3(MYH6): c.4505G> A (p.Arg1502Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs199936506	14:23856987-23856987	14:23387778-23387778
3	MYH6	NM_002471.3(MYH6): c.2928+5G> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs28730772	14:23862870-23862870	14:23393661-23393661
4	MYH6	NM_002471.3(MYH6): c.292G> A (p.Glu98Lys)	single nucleotide variant	Uncertain significance	rs140596256	14:23874889-23874889	14:23405680-23405680
5	MYH6	NM_002471.3(MYH6): c.4328C> A (p.Ala1443Asp)	single nucleotide variant	Uncertain significance	rs727503234	14:23857395-23857395	14:23388186-23388186
6	MYH6	NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys)	single nucleotide variant	Uncertain significance	rs727503236	14:23859490-23859490	14:23390281-23390281
7	MYH6	NM_002471.3(MYH6): c.5135G> T (p.Ser1712Ile)	single nucleotide variant	Uncertain significance	rs201383498	14:23855165-23855165	14:23385956-23385956
8	MYH6	NM_002471.3(MYH6): c.115G> A (p.Val39Met)	single nucleotide variant	Uncertain significance	rs142850511	14:23876318-23876318	14:23407109-23407109
9	MYH6	NM_002471.3(MYH6): c.1244G> C (p.Gly415Ala)	single nucleotide variant	Uncertain significance	rs759520932	14:23870084-23870084	14:23400875-23400875
10	MYH6	NM_002471.3(MYH6): c.3604G> A (p.Val1202Met)	single nucleotide variant	Uncertain significance	rs368451573	14:23859394-23859394	14:23390185-23390185
11	MYH6	NM_002471.3(MYH6): c.2611C> T (p.Arg871Cys)	single nucleotide variant	Uncertain significance	rs376682837	14:23863351-23863351	14:23394142-23394142
12	MYH6	NM_002471.3(MYH6): c.5077G> A (p.Val1693Met)	single nucleotide variant	Uncertain significance	rs373457153	14:23855223-23855223	14:23386014-23386014
13	MYH6	NM_002471.3(MYH6): c.1521T> G (p.Ile507Met)	single nucleotide variant	Uncertain significance	rs142410102	14:23869525-23869525	14:23400316-23400316
14	MYH6	NM_002471.3(MYH6): c.2576G> C (p.Gly859Ala)	single nucleotide variant	Uncertain significance	rs779528748	14:23863386-23863386	14:23394177-23394177

UniProtKB/Swiss-Prot genetic disease variations for Atrial Septal Defect 3:

⁷⁴

#	Symbol	AA change	Variation ID	SNP ID
1	MYH6	p.Ile820Asn	VAR_031883	rs267606903

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Expression for Atrial Septal Defect 3

Search GEO for disease gene expression data for Atrial Septal Defect 3.

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Pathways for Atrial Septal Defect 3

Pathways related to Atrial Septal Defect 3 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Primary Focal Segmental Glomerulosclerosis FSGS ¹	11	NPHS2 NPHS1 CD2AP
2	Nephrin interactions ⁶⁶	10.5	NPHS1 CD2AP
3	Nephrin/Neph1 signaling in the kidney podocyte ¹	10.21	NPHS2 NPHS1 CD2AP

Sources

GO Terms for Atrial Septal Defect 3

Cellular components related to Atrial Septal Defect 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular exosome	GO:0070062	9.35	NPHS2 NPHS1 MIR208A ENPEP CD2AP
2	apical part of cell	GO:0045177	9.16	REN ENPEP
3	slit diaphragm	GO:0036057	8.62	NPHS2 NPHS1

Biological processes related to Atrial Septal Defect 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	male gonad development	GO:0008584	9.26	REN CITED2
2	regulation of blood pressure	GO:0008217	9.16	REN MYH6
3	excretion	GO:0007588	8.96	NPHS2 NPHS1
4	angiotensin maturation	GO:0002003	8.62	REN ENPEP

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Sources for Atrial Septal Defect 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Atrial Septal Defect 3 (ASD3)

Aliases & Classifications for Atrial Septal Defect 3

MalaCards integrated aliases for Atrial Septal Defect 3:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Atrial Septal Defect 3

Related Diseases for Atrial Septal Defect 3

Diseases in the Atrial Septal Defect 2 family:

Diseases related to Atrial Septal Defect 3 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Atrial Septal Defect 3:

Symptoms & Phenotypes for Atrial Septal Defect 3

Human phenotypes related to Atrial Septal Defect 3:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Atrial Septal Defect 3:

Drugs & Therapeutics for Atrial Septal Defect 3

Genetic Tests for Atrial Septal Defect 3

Genetic tests related to Atrial Septal Defect 3:

Anatomical Context for Atrial Septal Defect 3

MalaCards organs/tissues related to Atrial Septal Defect 3:

Publications for Atrial Septal Defect 3

Articles related to Atrial Septal Defect 3:

Genes for Atrial Septal Defect 3

Genes related to Atrial Septal Defect 3 (1 elite genes):

Variations for Atrial Septal Defect 3

ClinVar genetic disease variations for Atrial Septal Defect 3:

UniProtKB/Swiss-Prot genetic disease variations for Atrial Septal Defect 3:

Expression for Atrial Septal Defect 3

Pathways for Atrial Septal Defect 3

Pathways related to Atrial Septal Defect 3 according to GeneCards Suite gene sharing:

GO Terms for Atrial Septal Defect 3

Cellular components related to Atrial Septal Defect 3 according to GeneCards Suite gene sharing:

Biological processes related to Atrial Septal Defect 3 according to GeneCards Suite gene sharing:

Sources for Atrial Septal Defect 3