ASD3
MCID: ATR022
MIFTS: 28

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 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:



External Ids:

Disease Ontology 12 DOID:0110108
OMIM 56 614089
OMIM Phenotypic Series 56 PS108800
MeSH 43 D006344
ICD10 32 Q21.1
SNOMED-CT via HPO 68 204315000 263681008
UMLS 71 C3279790

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 atrial heart septal defect and sick sinus syndrome 3. 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 atrial heart septal defect 29.5 TLL1 MYH6
2 sick sinus syndrome 3 10.1 MYH6 LOC114827851
3 sick sinus syndrome 10.1 MYH6 LOC114827851
4 scapuloperoneal myopathy 10.0 MYH6 LOC114827851
5 myopathy, distal, 1 10.0 MYH6 LOC114827851
6 heart septal defect 10.0
7 atrial septal defect 4 9.8 TLL1 ENPEP
8 patent foramen ovale 9.5 TLL1 MYH6

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

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 17)
# Title Authors PMID Year
1
Mutation in myosin heavy chain 6 causes atrial septal defect. 56 6
15735645 2005
2
[Successful Staged Surgical Management for Double Outlet Right Ventricle with Ebstein's Anomaly and Aortic Coarctation;Report of a Case]. 61
30185760 2018
3
Photoprotective potential of metabolites isolated from algae-associated fungi Annulohypoxylon stygium. 61
29175758 2018
4
The importance of heart murmur in the neonatal period and justification of echocardiographic review. 61
25568554 2014
5
[Association between nuclear factor of activated T cells 1 gene mutation and simple congenital heart disease in children]. 61
21055286 2010
6
Conscious cardiac surgery with cardiopulmonary bypass using thoracic epidural anesthesia without endotracheal general anesthesia. 61
16130054 2005
7
Large thrombus at the site of primary sutured atrial septal defect associated with pulmonary embolism and treatment by thrombolysis. 61
12859367 2003
8
Growth of an atrial septal defect: missing the window for transcatheter closure. 61
12189410 2002
9
[Results of surgery after failed mitral percutaneous dilatation]. 61
10584383 1999
10
Atrial septal aneurysm: a new classification in two hundred five adults. 61
9282354 1997
11
Video-thoracoscopic surgical interruption of patent ductus arteriosus. Routine experience in 332 pediatric cases. 61
9237586 1997
12
Aortopulmonary septal defects. A review of the literature and report of ten cases. 61
8040168 1994
13
[Surgical correction of congenital heart defects in infants and young children]. 61
1782055 1991
14
[Changes in ventricular depolarization and repolarization in 116 cases of surgically treated interauricular communication]. 61
2604487 1989
15
Complete repair of pulmonary atresia with nonconfluent pulmonary arteries. 61
6849580 1983
16
Mitral valve lesion associated with secundum atrial septal defect. Analysis by real time two dimensional echocardiography. 61
6821611 1983
17
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 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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_002471.3(MYH6):c.2928+5G>ASNV Conflicting interpretations of pathogenicity 44473 rs28730772 14:23862870-23862870 14:23393661-23393661
3 MYH6 NM_002471.3(MYH6):c.3508G>A (p.Glu1170Lys)SNV Conflicting interpretations of pathogenicity 164230 rs727503236 14:23859490-23859490 14:23390281-23390281
4 MYH6 NM_002471.3(MYH6):c.115G>A (p.Val39Met)SNV Conflicting interpretations of pathogenicity 191724 rs142850511 14:23876318-23876318 14:23407109-23407109
5 MYH6 NM_002471.3(MYH6):c.4505G>A (p.Arg1502Gln)SNV Conflicting interpretations of pathogenicity 44513 rs199936506 14:23856987-23856987 14:23387778-23387778
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 Uncertain significance 373555 rs373457153 14:23855223-23855223 14:23386014-23386014
9 MYH6 NM_002471.3(MYH6):c.1521T>G (p.Ile507Met)SNV Uncertain significance 432873 rs142410102 14:23869525-23869525 14:23400316-23400316
10 MYH6 NM_002471.3(MYH6):c.2576G>C (p.Gly859Ala)SNV Uncertain significance 537946 rs779528748 14:23863386-23863386 14:23394177-23394177
11 MYH6 NM_002471.3(MYH6):c.2878G>A (p.Glu960Lys)SNV Uncertain significance 692236 14:23862925-23862925 14:23393716-23393716
12 MYH6 NM_002471.3(MYH6):c.4328C>A (p.Ala1443Asp)SNV Uncertain significance 164221 rs727503234 14:23857395-23857395 14:23388186-23388186
13 MYH6 NM_002471.3(MYH6):c.5135G>T (p.Ser1712Ile)SNV Uncertain significance 191709 rs201383498 14:23855165-23855165 14:23385956-23385956
14 MYH6 NM_002471.3(MYH6):c.292G>A (p.Glu98Lys)SNV Uncertain significance 44474 rs140596256 14:23874889-23874889 14:23405680-23405680
15 MYH6 NM_002471.3(MYH6):c.2611C>T (p.Arg871Cys)SNV Uncertain significance 44469 rs376682837 14:23863351-23863351 14:23394142-23394142

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

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 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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