MCID: ATR022
MIFTS: 29

Atrial Septal Defect 3

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Atrial Septal Defect 3

MalaCards integrated aliases for Atrial Septal Defect 3:

Name: Atrial Septal Defect 3 53 12 71 28 13 69
Asd3 53 12 71
Atrial Heart Septal Defect 3 12 14

Characteristics:

HPO:

31
atrial septal defect 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 614089
Disease Ontology 12 DOID:0110108
ICD10 32 Q21.1
MeSH 41 D006344
SNOMED-CT via HPO 65 263681008 204315000
UMLS 69 C3279790

Summaries for Atrial Septal Defect 3

UniProtKB/Swiss-Prot : 71 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 patent foramen ovale and sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis, and has symptoms including secundum atrial septal defect 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 related phenotype is renal/urinary 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 5 family:

Atrial Septal Defect 1 Atrial Septal Defect 2
Atrial Septal Defect 4 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 24)
# Related Disease Score Top Affiliating Genes
1 patent foramen ovale 10.0 CITED2 MYH6
2 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.0 CD2AP NPHS2
3 nail-patella syndrome 9.9 CD2AP NPHS2
4 atrial heart septal defect 9.9
5 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 9.8 NPHS1 NPHS2
6 kidney hypertrophy 9.8 NPHS1 NPHS2
7 hypoparathyroidism, sensorineural deafness, and renal disease 9.8 NPHS1 NPHS2
8 diffuse mesangial sclerosis 9.7 NPHS1 NPHS2
9 galloway-mowat syndrome 9.7 NPHS1 NPHS2
10 end stage renal failure 9.6 NPHS1 NPHS2
11 urinary system disease 9.6 NPHS1 NPHS2
12 chronic kidney failure 9.5 NPHS1 NPHS2
13 familial nephrotic syndrome 9.4 CD2AP NPHS1 NPHS2
14 nephrotic syndrome, type 1 9.4 CD2AP NPHS1 NPHS2
15 focal segmental glomerulosclerosis 1 9.4 CD2AP NPHS1 NPHS2
16 denys-drash syndrome 9.4 CD2AP NPHS1 NPHS2
17 lipoid nephrosis 9.4 CD2AP NPHS1 NPHS2
18 frasier syndrome 9.4 CD2AP NPHS1 NPHS2
19 glomerulonephritis 9.4 NPHS1 NPHS2
20 membranous nephropathy 9.4 CD2AP NPHS1 NPHS2
21 iga glomerulonephritis 9.3 CD2AP NPHS1 NPHS2
22 nephrotic syndrome 9.3 CD2AP NPHS1 NPHS2
23 focal segmental glomerulosclerosis 9.3 CD2AP NPHS1 NPHS2
24 kidney disease 9.3 CD2AP NPHS1 NPHS2

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:

31
# Description HPO Frequency HPO Source Accession
1 secundum atrial septal defect 31 HP:0001684

MGI Mouse Phenotypes related to Atrial Septal Defect 3:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 NPHS1 NPHS2 CD2AP CITED2

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

Interventional clinical trials:


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

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 28 MYH6

Anatomical Context for Atrial Septal Defect 3

MalaCards organs/tissues related to Atrial Septal Defect 3:

38
Heart

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:

71
# 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

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 cell-cell junction GO:0005911 9.16 CD2AP NPHS2
2 protein complex GO:0043234 9.13 CD2AP CITED2 NPHS2
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 excretion GO:0007588 8.62 NPHS1 NPHS2

Sources for Atrial Septal Defect 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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