ASD3
MCID: ATR022
MIFTS: 29

Atrial Septal Defect 3 (ASD3)

Categories: Cardiovascular diseases, Genetic diseases

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:



External Ids:

Disease Ontology 12 DOID:0110108
OMIM® 57 614089
OMIM Phenotypic Series 57 PS108800
MeSH 44 D006344
ICD10 32 Q21.1
SNOMED-CT via HPO 68 204315000 263681008
UMLS 70 C3279790

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

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:



Diseases related to Atrial Septal Defect 3

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)

Drugs & Therapeutics for Atrial Septal Defect 3

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

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

Anatomical Context for Atrial Septal Defect 3

MalaCards organs/tissues related to Atrial Septal Defect 3:

40
Heart, T Cells

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
15735645 2005
2
Development of spray-dried amorphous solid dispersions of tadalafil using glycyrrhizin for enhanced dissolution and aphrodisiac activity in male rats. 61
33424269 2020
3
[Successful Staged Surgical Management for Double Outlet Right Ventricle with Ebstein's Anomaly and Aortic Coarctation;Report of a Case]. 61
30185760 2018
4
Photoprotective potential of metabolites isolated from algae-associated fungi Annulohypoxylon stygium. 61
29175758 2018
5
The importance of heart murmur in the neonatal period and justification of echocardiographic review. 61
25568554 2014
6
[Association between nuclear factor of activated T cells 1 gene mutation and simple congenital heart disease in children]. 61
21055286 2010
7
Conscious cardiac surgery with cardiopulmonary bypass using thoracic epidural anesthesia without endotracheal general anesthesia. 61
16130054 2005
8
Large thrombus at the site of primary sutured atrial septal defect associated with pulmonary embolism and treatment by thrombolysis. 61
12859367 2003
9
Growth of an atrial septal defect: missing the window for transcatheter closure. 61
12189410 2002
10
[Results of surgery after failed mitral percutaneous dilatation]. 61
10584383 1999
11
Atrial septal aneurysm: a new classification in two hundred five adults. 61
9282354 1997
12
Video-thoracoscopic surgical interruption of patent ductus arteriosus. Routine experience in 332 pediatric cases. 61
9237586 1997
13
Aortopulmonary septal defects. A review of the literature and report of ten cases. 61
8040168 1994
14
[Surgical correction of congenital heart defects in infants and young children]. 61
1782055 1991
15
[Changes in ventricular depolarization and repolarization in 116 cases of surgically treated interauricular communication]. 61
2604487 1989
16
Complete repair of pulmonary atresia with nonconfluent pulmonary arteries. 61
6849580 1983
17
Mitral valve lesion associated with secundum atrial septal defect. Analysis by real time two dimensional echocardiography. 61
6821611 1983
18
REPAIR OF ATRIAL SEPTAL DEFECT. 3. THORACIC THEATRE. 61
14105511 1964

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

Expression for Atrial Septal Defect 3

Search GEO for disease gene expression data 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:

# 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 for Atrial Septal Defect 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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