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

Sources

Aliases & Classifications for Atrial Septal Defect 3

MalaCards integrated aliases for Atrial Septal Defect 3:

Name: Atrial Septal Defect 3 ⁵⁷ ¹² ⁷² ²⁹ ¹³ ⁶ ⁷⁰

Asd3 ⁵⁷ ¹² ⁷²

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® ⁵⁷ 614089

OMIM Phenotypic Series ⁵⁷ PS108800

MeSH ⁴⁴ D006344

ICD10 ³² Q21.1

MedGen ⁴¹ C1834527 C3279790

SNOMED-CT via HPO ⁶⁸ 204315000 263681008

UMLS ⁷⁰ C3279790

Sources

Summaries for Atrial Septal Defect 3

UniProtKB/Swiss-Prot : ⁷² 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

Sources

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	10.1	MYH6 LOC114827851
2	sick sinus syndrome	10.1	MYH6 LOC114827851
3	heart septal defect	10.0
4	atrial heart septal defect	10.0
5	scapuloperoneal myopathy	10.0	MYH6 LOC114827851
6	myopathy, distal, 1	9.9	MYH6 LOC114827851
7	pachyonychia congenita 1	9.4	TVP23A OR10H4 NUDT18 MRPL38 AP5B1

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 (Updated 20-May-2021)

Sources

Drugs & Therapeutics for Atrial Septal Defect 3

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

Sources

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

Sources

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 18)

#	Title	Authors	PMID	Year
1	Mutation in myosin heavy chain 6 causes atrial septal defect. ⁵⁷ ⁶	Ching YH...Brook JD	15735645	2005
2	Development of spray-dried amorphous solid dispersions of tadalafil using glycyrrhizin for enhanced dissolution and aphrodisiac activity in male rats. ⁶¹	Muqtader Ahmed M...Khalid Anwer M	33424269	2020
3	[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
4	Photoprotective potential of metabolites isolated from algae-associated fungi Annulohypoxylon stygium. ⁶¹	Maciel OMC...Debonsi HM	29175758	2018
5	The importance of heart murmur in the neonatal period and justification of echocardiographic review. ⁶¹	Kardasevic M...Kardasevic A	25568554	2014
6	[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
7	Conscious cardiac surgery with cardiopulmonary bypass using thoracic epidural anesthesia without endotracheal general anesthesia. ⁶¹	Chakravarthy M...Sudhakar N	16130054	2005
8	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
9	Growth of an atrial septal defect: missing the window for transcatheter closure. ⁶¹	Tortoriello TA...Grifka RG	12189410	2002
10	[Results of surgery after failed mitral percutaneous dilatation]. ⁶¹	Mathieu P...Pelletier LC	10584383	1999
11	Atrial septal aneurysm: a new classification in two hundred five adults. ⁶¹	Olivares-Reyes A...Ong K	9282354	1997
12	Video-thoracoscopic surgical interruption of patent ductus arteriosus. Routine experience in 332 pediatric cases. ⁶¹	Laborde F...Petrie J	9237586	1997
13	Aortopulmonary septal defects. A review of the literature and report of ten cases. ⁶¹	Bertolini A...Marasini M	8040168	1994
14	[Surgical correction of congenital heart defects in infants and young children]. ⁶¹	Malyshev IuI...Kuvatov VA	1782055	1991
15	[Changes in ventricular depolarization and repolarization in 116 cases of surgically treated interauricular communication]. ⁶¹	de Micheli A...Casanova JM	2604487	1989
16	Complete repair of pulmonary atresia with nonconfluent pulmonary arteries. ⁶¹	Puga FJ...Mair DD	6849580	1983
17	Mitral valve lesion associated with secundum atrial septal defect. Analysis by real time two dimensional echocardiography. ⁶¹	Nagata S...Fujita T	6821611	1983
18	REPAIR OF ATRIAL SEPTAL DEFECT. 3. THORACIC THEATRE. ⁶¹	THOMAS G	14105511	1964

Sources

Genes for Atrial Septal Defect 3

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

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MYH6	Myosin Heavy Chain 6	Protein Coding	1333.65	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries Variants (show sections)	15735645
2	LOC114827851	VISTA Enhancer Hs2155	Biological Region	7.66	GeneCards inferred via : Variants (show sections)
3	NUDT18	Nudix Hydrolase 18	Protein Coding	6.79	DISEASES inferred ¹⁵
4	OR10H4	Olfactory Receptor Family 10 Subfamily H Member 4	Protein Coding	6.58	DISEASES inferred ¹⁵
5	MRPL38	Mitochondrial Ribosomal Protein L38	Protein Coding	6.47	DISEASES inferred ¹⁵
6	TVP23A	Trans-Golgi Network Vesicle Protein 23 Homolog A	Protein Coding	6.43	DISEASES inferred ¹⁵
7	MSL3	MSL Complex Subunit 3	Protein Coding	6.35	DISEASES inferred ¹⁵
8	AP5B1	Adaptor Related Protein Complex 5 Subunit Beta 1	Protein Coding	6.32	DISEASES inferred ¹⁵
9	ENPEP	Glutamyl Aminopeptidase	Protein Coding	6.19	DISEASES inferred ¹⁵
10	MSL2	MSL Complex Subunit 2	Protein Coding	6.14	DISEASES inferred ¹⁵
11	AUP1	AUP1 Lipid Droplet Regulating VLDL Assembly Factor	Protein Coding	6.01	DISEASES inferred ¹⁵
12	SVEP1	Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain Containing 1	Protein Coding	5.99	DISEASES inferred ¹⁵

Sources

Variations for Atrial Septal Defect 3

ClinVar genetic disease variations for Atrial Septal Defect 3:

⁶ (show all 23)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MYH6	NM_002471.3(MYH6):c.2459T>A (p.Ile820Asn)	SNV	Pathogenic	14148	rs267606903	GRCh37: 14:23863503-23863503 GRCh38: 14:23394294-23394294
2	MYH6	NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys)	SNV	Uncertain significance	164230	rs727503236	GRCh37: 14:23859490-23859490 GRCh38: 14:23390281-23390281
3	MYH6	NM_002471.3(MYH6):c.5135G>T (p.Ser1712Ile)	SNV	Uncertain significance	191709	rs201383498	GRCh37: 14:23855165-23855165 GRCh38: 14:23385956-23385956
4	MYH6	NM_002471.3(MYH6):c.5077G>A (p.Val1693Met)	SNV	Uncertain significance	373555	rs373457153	GRCh37: 14:23855223-23855223 GRCh38: 14:23386014-23386014
5	MYH6	NM_002471.3(MYH6):c.3604G>A (p.Val1202Met)	SNV	Uncertain significance	312860	rs368451573	GRCh37: 14:23859394-23859394 GRCh38: 14:23390185-23390185
6	MYH6	NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys)	SNV	Uncertain significance	44469	rs376682837	GRCh37: 14:23863351-23863351 GRCh38: 14:23394142-23394142
7	MYH6	NM_002471.3(MYH6):c.2576G>C (p.Gly859Ala)	SNV	Uncertain significance	537946	rs779528748	GRCh37: 14:23863386-23863386 GRCh38: 14:23394177-23394177
8	MYH6	NM_002471.3(MYH6):c.1521T>G (p.Ile507Met)	SNV	Uncertain significance	432873	rs142410102	GRCh37: 14:23869525-23869525 GRCh38: 14:23400316-23400316
9	MYH6	NM_002471.3(MYH6):c.1244G>C (p.Gly415Ala)	SNV	Uncertain significance	239163	rs759520932	GRCh37: 14:23870084-23870084 GRCh38: 14:23400875-23400875
10	LOC114827851 , MYH6	NM_002471.4(MYH6):c.292G>A (p.Glu98Lys)	SNV	Uncertain significance	44474	rs140596256	GRCh37: 14:23874889-23874889 GRCh38: 14:23405680-23405680
11	LOC114827851 , MYH6	NM_002471.3(MYH6):c.115G>A (p.Val39Met)	SNV	Uncertain significance	191724	rs142850511	GRCh37: 14:23876318-23876318 GRCh38: 14:23407109-23407109
12	MYH6	NM_002471.3(MYH6):c.2878G>A (p.Glu960Lys)	SNV	Uncertain significance	692236	rs1595056419	GRCh37: 14:23862925-23862925 GRCh38: 14:23393716-23393716
13	MYH6	NM_002471.3(MYH6):c.4666G>A (p.Glu1556Lys)	SNV	Uncertain significance	537962	rs148582147	GRCh37: 14:23855817-23855817 GRCh38: 14:23386608-23386608
14	MYH6	NM_002471.3(MYH6):c.864C>G (p.Tyr288Ter)	SNV	Uncertain significance	656196	rs186265521	GRCh37: 14:23872591-23872591 GRCh38: 14:23403382-23403382
15	MYH6	NM_002471.4(MYH6):c.1411-12T>C	SNV	Uncertain significance	1032059		GRCh37: 14:23869647-23869647 GRCh38: 14:23400438-23400438
16	MYH6	NM_002471.4(MYH6):c.1578G>C (p.Glu526Asp)	SNV	Uncertain significance	1032061		GRCh37: 14:23869468-23869468 GRCh38: 14:23400259-23400259
17	MYH6	NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser)	SNV	Uncertain significance	36627	rs150415679	GRCh37: 14:23868075-23868075 GRCh38: 14:23398866-23398866
18	MYH6	NM_002471.3(MYH6):c.3230A>T (p.Gln1077Leu)	SNV	Uncertain significance	407141	rs377716628	GRCh37: 14:23862142-23862142 GRCh38: 14:23392933-23392933
19	MYH6	NM_002471.4(MYH6):c.4750G>A (p.Glu1584Lys)	SNV	Uncertain significance	941989		GRCh37: 14:23855733-23855733 GRCh38: 14:23386524-23386524
20	MYH6	NM_002471.4(MYH6):c.5452G>C (p.Glu1818Gln)	SNV	Uncertain significance	1032063		GRCh37: 14:23853764-23853764 GRCh38: 14:23384555-23384555
21	MYH6	NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln)	SNV	Uncertain significance	44513	rs199936506	GRCh37: 14:23856987-23856987 GRCh38: 14:23387778-23387778
22	MYH6	NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp)	SNV	Uncertain significance	164221	rs727503234	GRCh37: 14:23857395-23857395 GRCh38: 14:23388186-23388186
23	MYH6	NM_002471.4(MYH6):c.2928+5G>A	SNV	Benign	44473	rs28730772	GRCh37: 14:23862870-23862870 GRCh38: 14:23393661-23393661

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

⁷²

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

Sources

Expression for Atrial Septal Defect 3

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

Sources

Pathways for Atrial Septal Defect 3

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	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	regulation of blood pressure	GO:0008217	8.96	MYH6 ENPEP
2	histone H4-K16 acetylation	GO:0043984	8.62	MSL3 MSL2

Sources

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

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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 MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

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 Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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