ASD3
MCID: ATR022
MIFTS: 32

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 75 29 13 6 73
Asd3 57 12 75
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:

OMIM 57 614089
Disease Ontology 12 DOID:0110108
ICD10 33 Q21.1
MeSH 44 D006344
SNOMED-CT via HPO 69 263681008 204315000
UMLS 73 C3279790

Summaries for Atrial Septal Defect 3

UniProtKB/Swiss-Prot : 75 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 Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics and Primary Focal Segmental Glomerulosclerosis FSGS. 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 28)
# Related Disease Score Top Affiliating Genes
1 sick sinus syndrome 3 10.1 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 nephrotic syndrome, type 6 10.0 NPHS1 NPHS2
6 kidney hypertrophy 10.0 NPHS1 NPHS2
7 atrial heart septal defect 10.0
8 hypoparathyroidism, sensorineural deafness, and renal disease 10.0 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 9.9 NPHS1 NPHS2
13 familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 9.8 CD2AP NPHS1 NPHS2
14 nephrotic syndrome 9.8 CD2AP NPHS1 NPHS2
15 familial nephrotic syndrome 9.8 CD2AP NPHS1 NPHS2
16 nephrotic syndrome, type 1 9.8 CD2AP NPHS1 NPHS2
17 denys-drash syndrome 9.8 CD2AP NPHS1 NPHS2
18 lipoid nephrosis 9.8 CD2AP NPHS1 NPHS2
19 frasier syndrome 9.8 CD2AP NPHS1 NPHS2
20 membranous nephropathy 9.8 CD2AP NPHS1 NPHS2
21 focal segmental glomerulosclerosis 9.8 CD2AP NPHS1 NPHS2
22 congestive heart failure 9.7 MYH6 REN
23 iga glomerulonephritis 9.7 NPHS1 NPHS2 REN
24 urinary system disease 9.7 NPHS1 NPHS2 REN
25 heart disease 9.7 CITED2 MYH6 REN
26 chronic kidney failure 9.7 NPHS1 NPHS2 REN
27 wilms tumor 1 9.6 NPHS1 NPHS2 REN
28 kidney disease 9.5 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

Clinical features from OMIM:

614089

Human phenotypes related to Atrial Septal Defect 3:

32
# Description HPO Frequency HPO Source Accession
1 secundum atrial septal defect 32 HP:0001684

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

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 29 MYH6

Anatomical Context for Atrial Septal Defect 3

MalaCards organs/tissues related to Atrial Septal Defect 3:

41
Heart, Kidney

Publications for Atrial Septal Defect 3

Articles related to Atrial Septal Defect 3:

# Title Authors Year
1
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:

75
# Symbol AA change Variation ID SNP ID
1 MYH6 p.Ile820Asn VAR_031883 rs267606903

ClinVar genetic disease variations for Atrial Septal Defect 3:

6
# 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.2928+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs28730772 GRCh37 Chromosome 14, 23862870: 23862870
4 MYH6 NM_002471.3(MYH6): c.2928+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs28730772 GRCh38 Chromosome 14, 23393661: 23393661
5 MYH6 NM_002471.3(MYH6): c.4505G> A (p.Arg1502Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199936506 GRCh37 Chromosome 14, 23856987: 23856987
6 MYH6 NM_002471.3(MYH6): c.4505G> A (p.Arg1502Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs199936506 GRCh38 Chromosome 14, 23387778: 23387778
7 MYH6 NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys) single nucleotide variant Uncertain significance rs727503236 GRCh37 Chromosome 14, 23859490: 23859490
8 MYH6 NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys) single nucleotide variant Uncertain significance rs727503236 GRCh38 Chromosome 14, 23390281: 23390281

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 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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