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 ⁵⁶ ¹² ⁷³ ²⁹ ¹³ ⁶ ⁷¹

Asd3 ⁵⁶ ¹² ⁷³

Atrial Heart Septal Defect 3 ¹² ¹⁵

Septal Defect, Atrial, Type 3 ³⁹

Characteristics:

HPO:

³¹

atrial septal defect 3:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³²

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 ⁵⁶ 614089

OMIM Phenotypic Series ⁵⁶ PS108800

MeSH ⁴³ D006344

ICD10 ³² Q21.1

MedGen ⁴¹ C1834527 C3279790

SNOMED-CT via HPO ⁶⁸ 204315000 263681008

UMLS ⁷¹ C3279790

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Summaries for Atrial Septal Defect 3

UniProtKB/Swiss-Prot : ⁷³ 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 sick sinus syndrome. An important gene associated with Atrial Septal Defect 3 is MYH6 (Myosin Heavy Chain 6). Affiliated tissues include heart and t cells, and related phenotype is secundum atrial septal defect.

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:

#	Related Disease	Score	Top Affiliating Genes
1	sick sinus syndrome 3	10.2	MYH6 LOC114827851
2	sick sinus syndrome	10.2	MYH6 LOC114827851
3	scapuloperoneal myopathy	10.0	MYH6 LOC114827851
4	heart septal defect	10.0
5	atrial heart septal defect	10.0
6	myopathy, distal, 1	9.9	MYH6 LOC114827851
7	atrial septal defect 4	9.8	SFR1 ENPEP
8	pachyonychia congenita 1	9.6	TVP23A OR10H4 NUDT18 MRPL38

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

Sources

Symptoms & Phenotypes for Atrial Septal Defect 3

Human phenotypes related to Atrial Septal Defect 3:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	secundum atrial septal defect ³¹		HP:0001684

Clinical features from OMIM:

614089

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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:

⁴⁰

Heart, T Cells

Sources

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. ⁶ ⁵⁶	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]. ⁶¹	Nishioka M...Nagata N	30185760	2018
3	Photoprotective potential of metabolites isolated from algae-associated fungi Annulohypoxylon stygium. ⁶¹	Maciel OMC...Debonsi HM	29175758	2018
4	The importance of heart murmur in the neonatal period and justification of echocardiographic review. ⁶¹	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]. ⁶¹	Han ZQ...Hu DY	21055286	2010
6	Conscious cardiac surgery with cardiopulmonary bypass using thoracic epidural anesthesia without endotracheal general anesthesia. ⁶¹	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. ⁶¹	Dinckal MH...Aksoy M	12859367	2003
8	Growth of an atrial septal defect: missing the window for transcatheter closure. ⁶¹	Tortoriello TA...Grifka RG	12189410	2002
9	[Results of surgery after failed mitral percutaneous dilatation]. ⁶¹	Mathieu P...Pelletier LC	10584383	1999
10	Atrial septal aneurysm: a new classification in two hundred five adults. ⁶¹	Olivares-Reyes A...Ong K	9282354	1997
11	Video-thoracoscopic surgical interruption of patent ductus arteriosus. Routine experience in 332 pediatric cases. ⁶¹	Laborde F...Petrie J	9237586	1997
12	Aortopulmonary septal defects. A review of the literature and report of ten cases. ⁶¹	Bertolini A...Marasini M	8040168	1994
13	[Surgical correction of congenital heart defects in infants and young children]. ⁶¹	Malyshev IuI...Kuvatov VA	1782055	1991
14	[Changes in ventricular depolarization and repolarization in 116 cases of surgically treated interauricular communication]. ⁶¹	de Micheli A...Casanova JM	2604487	1989
15	Complete repair of pulmonary atresia with nonconfluent pulmonary arteries. ⁶¹	Puga FJ...Mair DD	6849580	1983
16	Mitral valve lesion associated with secundum atrial septal defect. Analysis by real time two dimensional echocardiography. ⁶¹	Nagata S...Fujita T	6821611	1983
17	REPAIR OF ATRIAL SEPTAL DEFECT. 3. THORACIC THEATRE. ⁶¹	THOMAS G	14105511	1964

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Genes for Atrial Septal Defect 3

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

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MYH6	Myosin Heavy Chain 6	Protein Coding	1333.71	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries Variants (show sections)	15735645
2	LOC114827851	VISTA Enhancer Hs2155	Biological Region	7.85	GeneCards inferred via : Variants (show sections)
3	NUDT18	Nudix Hydrolase 18	Protein Coding	6.61	DISEASES inferred ¹⁵
4	OR10H4	Olfactory Receptor Family 10 Subfamily H Member 4	Protein Coding	6.51	DISEASES inferred ¹⁵
5	SFR1	SWI5 Dependent Homologous Recombination Repair Protein 1	Protein Coding	6.47	DISEASES inferred ¹⁵
6	MRPL38	Mitochondrial Ribosomal Protein L38	Protein Coding	6.38	DISEASES inferred ¹⁵
7	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	6.35	DISEASES inferred ¹⁵
8	TVP23A	Trans-Golgi Network Vesicle Protein 23 Homolog A	Protein Coding	6.35	DISEASES inferred ¹⁵
9	MSL3	MSL Complex Subunit 3	Protein Coding	6.33	DISEASES inferred ¹⁵
10	MSL2	MSL Complex Subunit 2	Protein Coding	6.09	DISEASES inferred ¹⁵
11	RPL39	Ribosomal Protein L39	Protein Coding	6.02	DISEASES inferred ¹⁵
12	ENPEP	Glutamyl Aminopeptidase	Protein Coding	5.98	DISEASES inferred ¹⁵
13	SVEP1	Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain Containing 1	Protein Coding	5.94	DISEASES inferred ¹⁵
14	AUP1	AUP1 Lipid Droplet Regulating VLDL Assembly Factor	Protein Coding	5.93	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 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MYH6	NM_002471.3(MYH6):c.2459T>A (p.Ile820Asn)	SNV	Pathogenic	14148	rs267606903	14:23863503-23863503	14:23394294-23394294
2	MYH6	NM_002471.4(MYH6):c.2928+5G>A	SNV	Conflicting interpretations of pathogenicity	44473	rs28730772	14:23862870-23862870	14:23393661-23393661
3	MYH6	NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln)	SNV	Conflicting interpretations of pathogenicity	44513	rs199936506	14:23856987-23856987	14:23387778-23387778
4	MYH6	NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys)	SNV	Conflicting interpretations of pathogenicity	164230	rs727503236	14:23859490-23859490	14:23390281-23390281
5	MYH6	NM_002471.3(MYH6):c.115G>A (p.Val39Met)	SNV	Conflicting interpretations of pathogenicity	191724	rs142850511	14:23876318-23876318	14:23407109-23407109
6	MYH6	NM_002471.3(MYH6):c.1244G>C (p.Gly415Ala)	SNV	Conflicting interpretations of pathogenicity	239163	rs759520932	14:23870084-23870084	14:23400875-23400875
7	MYH6	NM_002471.3(MYH6):c.3604G>A (p.Val1202Met)	SNV	Conflicting interpretations of pathogenicity	312860	rs368451573	14:23859394-23859394	14:23390185-23390185
8	MYH6	NM_002471.3(MYH6):c.5077G>A (p.Val1693Met)	SNV	Conflicting interpretations of pathogenicity	373555	rs373457153	14:23855223-23855223	14:23386014-23386014
9	MYH6	NM_002471.3(MYH6):c.5135G>T (p.Ser1712Ile)	SNV	Uncertain significance	191709	rs201383498	14:23855165-23855165	14:23385956-23385956
10	MYH6	NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp)	SNV	Uncertain significance	164221	rs727503234	14:23857395-23857395	14:23388186-23388186
11	MYH6	NM_002471.4(MYH6):c.292G>A (p.Glu98Lys)	SNV	Uncertain significance	44474	rs140596256	14:23874889-23874889	14:23405680-23405680
12	MYH6	NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys)	SNV	Uncertain significance	44469	rs376682837	14:23863351-23863351	14:23394142-23394142
13	MYH6	NM_002471.3(MYH6):c.1521T>G (p.Ile507Met)	SNV	Uncertain significance	432873	rs142410102	14:23869525-23869525	14:23400316-23400316
14	MYH6	NM_002471.3(MYH6):c.4666G>A (p.Glu1556Lys)	SNV	Uncertain significance	537962	rs148582147	14:23855817-23855817	14:23386608-23386608
15	MYH6	NM_002471.3(MYH6):c.2576G>C (p.Gly859Ala)	SNV	Uncertain significance	537946	rs779528748	14:23863386-23863386	14:23394177-23394177
16	MYH6	NM_002471.3(MYH6):c.2878G>A (p.Glu960Lys)	SNV	Uncertain significance	692236		14:23862925-23862925	14:23393716-23393716

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

⁷³

#	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

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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	cytosolic large ribosomal subunit	GO:0022625	9.16	UBA52 RPL39
2	ribosome	GO:0005840	9.13	UBA52 RPL39 MRPL38
3	MSL complex	GO:0072487	8.62	MSL3 MSL2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	histone H4-K16 acetylation	GO:0043984	8.62	MSL3 MSL2

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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

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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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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:

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

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