ASD1
MCID: ATR062
MIFTS: 33

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 57 12 29 13 6 72
Atrial Heart Septal Defect 1 12 15
Asd1 57 12
Asd 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant in occasional families


HPO:

32
atrial septal defect 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110106
ICD10 33 Q21.1
MedGen 42 C1862389
UMLS 72 C1862389

Summaries for Atrial Septal Defect 1

OMIM : 57 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 Transcription Factor 5). Affiliated tissues include heart, lung and brain, 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 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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 287)
# Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 12.4
2 patent foramen ovale 12.2
3 autism 11.9
4 asperger syndrome 11.8
5 anterior segment dysgenesis 11.8
6 atrial septal defect ostium primum 11.7
7 atrial septal defect 7 with or without atrioventricular conduction defects 11.7
8 atrial septal defect coronary sinus 11.6
9 autism 18 11.5
10 autism 9 11.5
11 interatrial communication 11.5
12 acute stress disorder 11.4
13 lymphatic malformation 7 11.4
14 ventricular septal defect 11.4
15 tuberous sclerosis 1 11.3
16 adnp syndrome 11.3
17 atrial septal defect sinus venosus 11.3
18 familial pulmonary arterial hypertension leucopenia and atrial septal defect 11.3
19 atrial heart septal defect 11.3
20 holt-oram syndrome 11.3
21 chromosome 15q11-q13 duplication syndrome 11.3
22 white-sutton syndrome 11.3
23 scn2a related disorders 11.3
24 autism x-linked 1 11.2
25 autism x-linked 2 11.2
26 autism x-linked 3 11.2
27 autism x-linked 4 11.2
28 autism x-linked 5 11.2
29 autism x-linked 6 11.2
30 autism 8 11.2
31 autism 3 11.2
32 autism 6 11.2
33 autism 7 11.2
34 autism 11 11.2
35 autism 12 11.2
36 autism 13 11.2
37 autism 10 11.2
38 autism 15 11.2
39 autism 16 11.2
40 autism 17 11.2
41 ritscher-schinzel syndrome 1 11.1
42 mental retardation, autosomal recessive 38 11.1
43 mental retardation, autosomal dominant 26 11.1
44 atrial heart septal defect 7 11.1
45 adnp-related intellectual disability and autism spectrum disorder 11.1
46 rare pervasive developmental disorder 11.1
47 anterior segment dysgenesis 1 11.0
48 tricuspid atresia 11.0
49 atrioventricular septal defect 11.0
50 atrioventricular septal defect 4 11.0

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:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 bicuspid aortic valve 32 HP:0001647
2 ventricular septal defect 32 HP:0001629
3 aortic valve stenosis 32 HP:0001650
4 secundum atrial septal defect 32 HP:0001684
5 persistent left superior vena cava 32 HP:0005301
6 second degree atrioventricular block 32 HP:0011706
7 subvalvular aortic stenosis 32 HP:0001682
8 atrial septal dilatation 32 HP:0011995
9 tetralogy of fallot with pulmonary atresia 32 HP:0012516

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
atrial septal defect

Clinical features from OMIM:

108800

Drugs & Therapeutics for Atrial Septal Defect 1

Search Clinical Trials , 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 29

Anatomical Context for Atrial Septal Defect 1

MalaCards organs/tissues related to Atrial Septal Defect 1:

41
Heart, Lung, Brain, Testes, Placenta

Publications for Atrial Septal Defect 1

Articles related to Atrial Septal Defect 1:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects. 8
9610535 1998
2
Autosomal dominant atrial septal defect of ostium secundum type. Report of three families. 8
1952784 1991
3
[Mechanisms common to the development of malformation in congenital and sporadic forms of atrial septal defect (type II) (author's transl)]. 8
452615 1979
4
Hereditary atrial septal defect. Update of a large kindred. 8
148839 1978
5
Atrial septal defect of the secundum type and HLA. 8
70860 1977
6
Genetics of atrial septal defect. 8
4261647 1972
7
Dominant mode of inheritance in atrial septal defect. 8
5116593 1971
8
Inheritance of atrial septal defect. 8
4165146 1967
9
Multiple occurrence of atrial septal defect in a family. 8
13788275 1960
10
[Congenital heart disease mortality in Spain during a 10 year period (2003-2012)]. 38
28711428 2018
11
QTL-Seq-based genetic analysis identifies a major genomic region governing dwarfness in rice (Oryza sativa L.). 38
29387899 2018
12
[Effect of akebiasaponin D with different concentrations on orthodontic tooth movement in rats]. 38
30146637 2018
13
Gain-of-function mutations in GATA6 lead to atrial fibrillation. 38
27756709 2017
14
Evaluation of Pulse Oximetry in the Early Detection of Cyanotic Congenital Heart Disease in Newborns. 38
27928258 2016
15
A Search for Blood Biomarkers for Autism: Peptoids. 38
26764136 2016
16
Neurofibromatosis type 1 and cardiac manifestations. 38
26717333 2015
17
Effects of Asian sand dust particles on the respiratory and immune system. 38
23576315 2014
18
Effects of two Asian sand dusts transported from the dust source regions of Inner Mongolia and northeast China on murine lung eosinophilia. 38
23896513 2013
19
[Identification of the differences in the genes responsible for methionine biosynthesis in Bacillus anthracis strains and phylogeny-related species]. 38
22937566 2012
20
[Percutaneous embolization of coronary fistulas: a single-center experience]. 38
22112711 2011
21
Pentalogy of Cantrell: Forty-two Years of Experience in the Hospital Infantil de Mexico Federico Gomez. 38
23804974 2011
22
The extra 16-amino-acid peptide at C-terminal NS2 of the hypervirulent type-2 bovine viral diarrhea viruses has no effect on viral replication and NS2-3 processing of type-1 virus. 38
20589424 2010
23
Bentall procedure in ascending aortic aneurysm: hospital mortality. 38
20226127 2010
24
Macrophage cell lines use CD81 in cell growth regulation. 38
19184252 2009
25
Regeneration and characterization of a recombinant bovine viral diarrhea virus and determination of its efficacy to cross the bovine placenta. 38
19067148 2009
26
Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies. 38
18008313 2007
27
[Echocardiographic findings in children with "innocent" murmur]. 38
16967146 2006
28
Regulation of aspartokinase, aspartate semialdehyde dehydrogenase, dihydrodipicolinate synthase and dihydrodipicolinate reductase in Lactobacillus plantarum. 38
16385120 2006
29
Myocardial creatine concentration in various nonischemic heart diseases assessed by 1H magnetic resonance spectroscopy. 38
15914951 2005
30
Recombinant factor VIIa to control excessive bleeding following surgery for congenital heart disease in pediatric patients. 38
15358945 2004
31
Successful late reintervention after the arterial switch procedure. 38
11834068 2002
32
Congenital vertebral anomalies in ischiopagus and pyopagus conjoined twins. 38
11127650 2000
33
[Helical computerized tomography of the thorax in the diagnosis of unresolved chronic pulmonary thromboembolism]. 38
11534096 2000
34
Surgical management of aortopulmonary window. 38
11030126 2000
35
[Clinical study of serum S-100 beta protein as marker of brain injury in cardiovascular surgery]. 38
10589188 1999
36
[Congenital cardiovascular malformations and chromosome microdeletions in 22q11.2]. 38
9951451 1999
37
Results of rapid two-stage arterial switch operation in patients with transposition of the great arteries: one-year postoperation. 38
9803087 1998
38
Three-dimensional echocardiographic measurement of right ventricular volume in children with congenital heart disease validated by magnetic resonance imaging. 38
9719088 1998
39
Afterload mismatch-related problems after "domino" heart transplantation. 38
9234054 1997
40
Coronary artery fistulas in infants and children: a surgical review and discussion of coil embolization. 38
9146308 1997
41
[Experience with Palmaz stent in pulmonary branch stenosis]. 38
9132878 1997
42
Effect of right ventricular volume overload on left ventricular diastolic function in patients with atrial septal defect. 38
8933238 1996
43
Deaths in visceral leishmaniasis (Kala-azar) during treatment. 38
10967976 1996
44
Potential recruits referred for cardiac opinion review of 100 consecutive cases--a waste of time or an investment? 38
8568746 1995
45
[Surgical treatment of coronary artery fistulas]. 38
7564039 1995
46
Assessment of left-to-right intracardiac shunting by velocity-encoded, phase-difference magnetic resonance imaging. A comparison with oximetric and indicator dilution techniques. 38
7796506 1995
47
Transesophageal echocardiography to evaluate patients with severe pulmonary hypertension for lung transplantation. 38
7887718 1995
48
Comparison of transesophageal and transthoracic echocardiography with contrast and color flow Doppler in the detection of patent foramen ovale. 38
8074014 1994
49
Selective lung or heart-lung transplantation for pulmonary hypertension associated with congenital cardiac anomalies. 38
8010800 1994
50
Asd-homothallism of Saccharomyces cerevisiae: identification of asd1-1 as an allele of sir4 and detection of alpha-specific suppressors of it. 38
8358815 1993

Variations for Atrial Septal Defect 1

ClinVar genetic disease variations for Atrial Septal Defect 1:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TBX5 NM_000192.3(TBX5): c.444G> A (p.Trp148Ter) single nucleotide variant Pathogenic rs1555226315 12:114836444-114836444 12:114398639-114398639
2 TPM1 NM_001018005.2(TPM1): c.686C> T (p.Ser229Phe) single nucleotide variant Likely pathogenic rs1114167356 15:63354460-63354460 15:63062261-63062261

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 RBFOX1 NBEA

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 TPM1 TBX5

Sources for Atrial Septal Defect 1

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
Content
Loading form....