ASD1
MCID: ATR062
MIFTS: 31

Atrial Septal Defect 1 (ASD1)

Categories: Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Atrial Septal Defect 1

MalaCards integrated aliases for Atrial Septal Defect 1:

Name: Atrial Septal Defect 1 58 12 30 13 6 74
Atrial Heart Septal Defect 1 12 15
Asd1 58 12
Asd 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant in occasional families


HPO:

33
atrial septal defect 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Atrial Septal Defect 1

OMIM : 58 Secundum atrial septal defect (ASD) is a common congenital heart malformation that occurs as an isolated anomaly in 10% of individuals with congenital heart disease. Uncorrected ASD can cause pulmonary overcirculation, right heart volume overload, and premature death (summary by Benson et al., 1998). (108800)

MalaCards based summary : Atrial Septal Defect 1, also known as atrial heart septal defect 1, is related to autism spectrum disorder and patent foramen ovale. An important gene associated with Atrial Septal Defect 1 is TBX5 (T-Box 5). Affiliated tissues include heart and spinal cord, and related phenotypes are bicuspid aortic valve and ventricular septal defect

Disease Ontology : 12 An atrial heart septal defect type 1 associated with variation in the region 5p.

Related Diseases for Atrial Septal Defect 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 149)
# Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 12.3
2 patent foramen ovale 11.9
3 asperger syndrome 11.7
4 autism 11.6
5 anterior segment dysgenesis 11.6
6 atrial septal defect ostium primum 11.6
7 atrial septal defect 7 with or without atrioventricular conduction defects 11.6
8 interatrial communication 11.3
9 atrial septal defect coronary sinus 11.2
10 atrial septal defect sinus venosus 11.2
11 familial pulmonary arterial hypertension leucopenia and atrial septal defect 11.2
12 white-sutton syndrome 11.1
13 scn2a related disorders 11.1
14 cone-rod dystrophy and hearing loss 2 11.1
15 atrial heart septal defect 11.1
16 autism x-linked 1 11.1
17 autism x-linked 2 11.1
18 autism x-linked 3 11.1
19 autism x-linked 4 11.1
20 autism x-linked 5 11.1
21 autism x-linked 6 11.1
22 autism 8 11.1
23 autism 3 11.1
24 autism 6 11.1
25 autism 7 11.1
26 autism 11 11.1
27 autism 12 11.1
28 autism 13 11.1
29 autism 9 11.1
30 autism 10 11.1
31 autism 15 11.1
32 autism 16 11.1
33 autism 17 11.1
34 autism 18 11.1
35 ritscher-schinzel syndrome 1 11.0
36 mental retardation, autosomal recessive 38 11.0
37 mental retardation, autosomal dominant 26 11.0
38 atrial heart septal defect 7 11.0
39 adnp-related intellectual disability and autism spectrum disorder 11.0
40 anterior segment dysgenesis 1 10.9
41 holt-oram syndrome 10.9
42 tricuspid atresia 10.9
43 atrioventricular septal defect 10.9
44 atrioventricular septal defect 4 10.9
45 atrioventricular septal defect 5 10.9
46 lymphatic malformation 7 10.9
47 developmental delay with variable intellectual impairment and behavioral abnormalities 10.9
48 lutembacher's syndrome 10.9
49 acute stress disorder 10.9
50 adnp syndrome 10.9

Graphical network of the top 20 diseases related to Atrial Septal Defect 1:



Diseases related to Atrial Septal Defect 1

Symptoms & Phenotypes for Atrial Septal Defect 1

Human phenotypes related to Atrial Septal Defect 1:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 bicuspid aortic valve 33 HP:0001647
2 ventricular septal defect 33 HP:0001629
3 aortic valve stenosis 33 HP:0001650
4 secundum atrial septal defect 33 HP:0001684
5 persistent left superior vena cava 33 HP:0005301
6 second degree atrioventricular block 33 HP:0011706
7 subvalvular aortic stenosis 33 HP:0001682
8 atrial septal dilatation 33 HP:0011995
9 tetralogy of fallot with pulmonary atresia 33 HP:0012516

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
atrial septal defect

Clinical features from OMIM:

108800

Drugs & Therapeutics for Atrial Septal Defect 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effects of Exercise in Anxiety in Children With ASD Recruiting NCT03860389 Not Applicable

Search NIH Clinical Center for Atrial Septal Defect 1

Genetic Tests for Atrial Septal Defect 1

Genetic tests related to Atrial Septal Defect 1:

# Genetic test Affiliating Genes
1 Atrial Septal Defect 1 30

Anatomical Context for Atrial Septal Defect 1

MalaCards organs/tissues related to Atrial Septal Defect 1:

42
Heart, Spinal Cord

Publications for Atrial Septal Defect 1

Articles related to Atrial Septal Defect 1:

# Title Authors Year
1
Asd-homothallism of Saccharomyces cerevisiae: identification of asd1-1 as an allele of sir4 and detection of alpha-specific suppressors of it. ( 8358815 )
1993

Variations for Atrial Septal Defect 1

ClinVar genetic disease variations for Atrial Septal Defect 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX5 NM_181486.2(TBX5): c.444G> A (p.Trp148Ter) single nucleotide variant Pathogenic rs1555226315 GRCh38 Chromosome 12, 114398639: 114398639
2 TBX5 NM_181486.2(TBX5): c.444G> A (p.Trp148Ter) single nucleotide variant Pathogenic rs1555226315 GRCh37 Chromosome 12, 114836444: 114836444
3 TPM1 NM_001018005.1(TPM1): c.686C> T (p.Ser229Phe) single nucleotide variant Likely pathogenic rs1114167356 GRCh38 Chromosome 15, 63062261: 63062261
4 TPM1 NM_001018005.1(TPM1): c.686C> T (p.Ser229Phe) single nucleotide variant Likely pathogenic rs1114167356 GRCh37 Chromosome 15, 63354460: 63354460

Expression for Atrial Septal Defect 1

Search GEO for disease gene expression data for Atrial Septal Defect 1.

Pathways for Atrial Septal Defect 1

GO Terms for Atrial Septal Defect 1

Cellular components related to Atrial Septal Defect 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 trans-Golgi network GO:0005802 8.62 NBEA RBFOX1

Biological processes related to Atrial Septal Defect 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell migration GO:0030336 8.62 TBX5 TPM1

Sources for Atrial Septal Defect 1

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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