ASD3
MCID: ATR022
MIFTS: 35

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 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:



External Ids:

Disease Ontology 12 DOID:0110108
MeSH 44 D006344
ICD10 33 Q21.1
UMLS 72 C3279790

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

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:



Diseases related to Atrial Septal Defect 3

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

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:

41
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. 8 71
15735645 2005
2
[Successful Staged Surgical Management for Double Outlet Right Ventricle with Ebstein's Anomaly and Aortic Coarctation;Report of a Case]. 38
30185760 2018
3
Photoprotective potential of metabolites isolated from algae-associated fungi Annulohypoxylon stygium. 38
29175758 2018
4
The importance of heart murmur in the neonatal period and justification of echocardiographic review. 38
25568554 2014
5
[Association between nuclear factor of activated T cells 1 gene mutation and simple congenital heart disease in children]. 38
21055286 2010
6
Conscious cardiac surgery with cardiopulmonary bypass using thoracic epidural anesthesia without endotracheal general anesthesia. 38
16130054 2005
7
Large thrombus at the site of primary sutured atrial septal defect associated with pulmonary embolism and treatment by thrombolysis. 38
12859367 2003
8
Growth of an atrial septal defect: missing the window for transcatheter closure. 38
12189410 2002
9
[Results of surgery after failed mitral percutaneous dilatation]. 38
10584383 1999
10
Atrial septal aneurysm: a new classification in two hundred five adults. 38
9282354 1997
11
Video-thoracoscopic surgical interruption of patent ductus arteriosus. Routine experience in 332 pediatric cases. 38
9237586 1997
12
Aortopulmonary septal defects. A review of the literature and report of ten cases. 38
8040168 1994
13
[Surgical correction of congenital heart defects in infants and young children]. 38
1782055 1991
14
[Changes in ventricular depolarization and repolarization in 116 cases of surgically treated interauricular communication]. 38
2604487 1989
15
Complete repair of pulmonary atresia with nonconfluent pulmonary arteries. 38
6849580 1983
16
Mitral valve lesion associated with secundum atrial septal defect. Analysis by real time two dimensional echocardiography. 38
6821611 1983
17
REPAIR OF ATRIAL SEPTAL DEFECT. 3. THORACIC THEATRE. 38
14105511 1964

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

Expression for Atrial Septal Defect 3

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

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 11 NPHS2 NPHS1 CD2AP
2 10.5 NPHS1 CD2AP
3 10.21 NPHS2 NPHS1 CD2AP

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

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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