ASD3
MCID: ATR022
MIFTS: 34

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 58 12 76 30 13 6 74
Asd3 58 12 76
Atrial Heart Septal Defect 3 12 15
Septal Defect, Atrial, Type 3 41

Characteristics:

HPO:

33
atrial septal defect 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110108
OMIM 58 614089
MeSH 45 D006344
ICD10 34 Q21.1
SNOMED-CT via HPO 70 204315000 263681008
UMLS 74 C3279790

Summaries for Atrial Septal Defect 3

UniProtKB/Swiss-Prot : 76 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 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis. 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. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include heart and kidney, 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.

Description from OMIM: 614089

Related Diseases for Atrial Septal Defect 3

Diseases in the Atrial Septal Defect 3 family:

Atrial Septal Defect 1 Atrial Septal Defect 2
Atrial Septal Defect 4 Atrial Septal Defect 5
Atrial Septal Defect 6 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 10.2 MIR208A MYH6
2 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.1 CD2AP NPHS2
3 patent foramen ovale 10.0 CITED2 MYH6
4 nail-patella syndrome 10.0 CD2AP NPHS2
5 atrial heart septal defect 10.0
6 nephrotic syndrome, type 6 10.0 NPHS1 NPHS2
7 kidney hypertrophy 9.9 NPHS1 NPHS2
8 hypoparathyroidism, sensorineural deafness, and renal disease 9.9 NPHS1 NPHS2
9 diffuse mesangial sclerosis 9.9 NPHS1 NPHS2
10 nephrosclerosis 9.9 NPHS1 NPHS2
11 galloway-mowat syndrome 9.9 NPHS1 NPHS2
12 end stage renal failure 9.8 NPHS1 NPHS2
13 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 9.7 CD2AP NPHS1 NPHS2
14 nephrotic syndrome 9.7 CD2AP NPHS1 NPHS2
15 familial nephrotic syndrome 9.7 CD2AP NPHS1 NPHS2
16 nephrotic syndrome, type 1 9.7 CD2AP NPHS1 NPHS2
17 denys-drash syndrome 9.7 CD2AP NPHS1 NPHS2
18 lipoid nephrosis 9.7 CD2AP NPHS1 NPHS2
19 frasier syndrome 9.7 CD2AP NPHS1 NPHS2
20 membranous nephropathy 9.7 CD2AP NPHS1 NPHS2
21 focal segmental glomerulosclerosis 9.7 CD2AP NPHS1 NPHS2
22 congestive heart failure 9.6 MYH6 REN
23 iga glomerulonephritis 9.5 NPHS1 NPHS2 REN
24 urinary system disease 9.5 NPHS1 NPHS2 REN
25 heart disease 9.5 CITED2 MYH6 REN
26 chronic kidney failure 9.5 NPHS1 NPHS2 REN
27 kidney disease 9.2 CD2AP NPHS1 NPHS2 REN

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:

33
# Description HPO Frequency HPO Source Accession
1 secundum atrial septal defect 33 HP:0001684

Clinical features from OMIM:

614089

MGI Mouse Phenotypes related to Atrial Septal Defect 3:

47
# 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

Drugs for Atrial Septal Defect 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cognitive Training in Children With ASD Recruiting NCT02813564 Not Applicable

Search 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 30 MYH6

Anatomical Context for Atrial Septal Defect 3

MalaCards organs/tissues related to Atrial Septal Defect 3:

42
Heart, Kidney

Publications for Atrial Septal Defect 3

Articles related to Atrial Septal Defect 3:

# Title Authors Year
1
Mutation in myosin heavy chain 6 causes atrial septal defect. ( 15735645 )
2005
2
REPAIR OF ATRIAL SEPTAL DEFECT. 3. THORACIC THEATRE. ( 14105511 )
1964

Variations for Atrial Septal Defect 3

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

76
# Symbol AA change Variation ID SNP ID
1 MYH6 p.Ile820Asn VAR_031883 rs267606903

ClinVar genetic disease variations for Atrial Septal Defect 3:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH6 NM_002471.3(MYH6): c.2459T> A (p.Ile820Asn) single nucleotide variant Pathogenic rs267606903 GRCh37 Chromosome 14, 23863503: 23863503
2 MYH6 NM_002471.3(MYH6): c.2459T> A (p.Ile820Asn) single nucleotide variant Pathogenic rs267606903 GRCh38 Chromosome 14, 23394294: 23394294
3 MYH6 NM_002471.3(MYH6): c.2611C> T (p.Arg871Cys) single nucleotide variant Uncertain significance rs376682837 GRCh37 Chromosome 14, 23863351: 23863351
4 MYH6 NM_002471.3(MYH6): c.2611C> T (p.Arg871Cys) single nucleotide variant Uncertain significance rs376682837 GRCh38 Chromosome 14, 23394142: 23394142
5 MYH6 NM_002471.3(MYH6): c.2928+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs28730772 GRCh37 Chromosome 14, 23862870: 23862870
6 MYH6 NM_002471.3(MYH6): c.2928+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs28730772 GRCh38 Chromosome 14, 23393661: 23393661
7 MYH6 NM_002471.3(MYH6): c.292G> A (p.Glu98Lys) single nucleotide variant Uncertain significance rs140596256 GRCh37 Chromosome 14, 23874889: 23874889
8 MYH6 NM_002471.3(MYH6): c.292G> A (p.Glu98Lys) single nucleotide variant Uncertain significance rs140596256 GRCh38 Chromosome 14, 23405680: 23405680
9 MYH6 NM_002471.3(MYH6): c.4505G> A (p.Arg1502Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199936506 GRCh37 Chromosome 14, 23856987: 23856987
10 MYH6 NM_002471.3(MYH6): c.4505G> A (p.Arg1502Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199936506 GRCh38 Chromosome 14, 23387778: 23387778
11 MYH6 NM_002471.3(MYH6): c.4328C> A (p.Ala1443Asp) single nucleotide variant Uncertain significance rs727503234 GRCh37 Chromosome 14, 23857395: 23857395
12 MYH6 NM_002471.3(MYH6): c.4328C> A (p.Ala1443Asp) single nucleotide variant Uncertain significance rs727503234 GRCh38 Chromosome 14, 23388186: 23388186
13 MYH6 NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys) single nucleotide variant Uncertain significance rs727503236 GRCh37 Chromosome 14, 23859490: 23859490
14 MYH6 NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys) single nucleotide variant Uncertain significance rs727503236 GRCh38 Chromosome 14, 23390281: 23390281
15 MYH6 NM_002471.3(MYH6): c.5135G> T (p.Ser1712Ile) single nucleotide variant Uncertain significance rs201383498 GRCh37 Chromosome 14, 23855165: 23855165
16 MYH6 NM_002471.3(MYH6): c.5135G> T (p.Ser1712Ile) single nucleotide variant Uncertain significance rs201383498 GRCh38 Chromosome 14, 23385956: 23385956
17 MYH6 NM_002471.3(MYH6): c.115G> A (p.Val39Met) single nucleotide variant Uncertain significance rs142850511 GRCh38 Chromosome 14, 23407109: 23407109
18 MYH6 NM_002471.3(MYH6): c.115G> A (p.Val39Met) single nucleotide variant Uncertain significance rs142850511 GRCh37 Chromosome 14, 23876318: 23876318
19 MYH6 NM_002471.3(MYH6): c.1244G> C (p.Gly415Ala) single nucleotide variant Uncertain significance rs759520932 GRCh37 Chromosome 14, 23870084: 23870084
20 MYH6 NM_002471.3(MYH6): c.1244G> C (p.Gly415Ala) single nucleotide variant Uncertain significance rs759520932 GRCh38 Chromosome 14, 23400875: 23400875
21 MYH6 NM_002471.3(MYH6): c.3604G> A (p.Val1202Met) single nucleotide variant Uncertain significance rs368451573 GRCh37 Chromosome 14, 23859394: 23859394
22 MYH6 NM_002471.3(MYH6): c.3604G> A (p.Val1202Met) single nucleotide variant Uncertain significance rs368451573 GRCh38 Chromosome 14, 23390185: 23390185
23 MYH6 NM_002471.3(MYH6): c.5077G> A (p.Val1693Met) single nucleotide variant Uncertain significance rs373457153 GRCh37 Chromosome 14, 23855223: 23855223
24 MYH6 NM_002471.3(MYH6): c.5077G> A (p.Val1693Met) single nucleotide variant Uncertain significance rs373457153 GRCh38 Chromosome 14, 23386014: 23386014
25 MYH6 NM_002471.3(MYH6): c.1521T> G (p.Ile507Met) single nucleotide variant Uncertain significance rs142410102 GRCh37 Chromosome 14, 23869525: 23869525
26 MYH6 NM_002471.3(MYH6): c.1521T> G (p.Ile507Met) single nucleotide variant Uncertain significance rs142410102 GRCh38 Chromosome 14, 23400316: 23400316
27 MYH6 NM_002471.3(MYH6): c.2576G> C (p.Gly859Ala) single nucleotide variant Uncertain significance rs779528748 GRCh37 Chromosome 14, 23863386: 23863386
28 MYH6 NM_002471.3(MYH6): c.2576G> C (p.Gly859Ala) single nucleotide variant Uncertain significance rs779528748 GRCh38 Chromosome 14, 23394177: 23394177

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

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 CD2AP ENPEP MIR208A NPHS1 NPHS2
2 apical part of cell GO:0045177 9.16 ENPEP REN
3 slit diaphragm GO:0036057 8.62 NPHS1 NPHS2

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 CITED2 REN
2 regulation of blood pressure GO:0008217 9.16 MYH6 REN
3 excretion GO:0007588 8.96 NPHS1 NPHS2
4 angiotensin maturation GO:0002003 8.62 ENPEP REN

Sources for Atrial Septal Defect 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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