ASD
MCID: ATR062
MIFTS: 23

Atrial Septal Defect 1 (ASD)

Categories: Cardiovascular diseases, Genetic diseases, Fetal diseases, Rare 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 73
Atrial Heart Septal Defect 1 12 15
Asd1 57 12
Asd 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant in occasional families


Classifications:



External Ids:

OMIM 57 108800
Disease Ontology 12 DOID:0110106
ICD10 33 Q21.1
MedGen 42 C1862389
SNOMED-CT via HPO 69 253366007 405752007 70142008
UMLS 73 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 atrial heart septal defect and autism spectrum disorder. An important gene associated with Atrial Septal Defect 1 is TBX5 (T-Box 5). Affiliated tissues include heart, and related phenotype is atrial 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 4 family:

Atrial Septal Defect 1 Atrial Septal Defect 2
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:

# Related Disease Score Top Affiliating Genes
1 atrial heart septal defect 30.9 ASD1 TBX5
2 autism spectrum disorder 12.0
3 patent foramen ovale 11.9
4 asperger syndrome 11.5
5 anterior segment dysgenesis 11.5
6 autism 11.3

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

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
atrial septal defect


Clinical features from OMIM:

108800

Human phenotypes related to Atrial Septal Defect 1:

32
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 32 HP:0001631

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

Publications for Atrial Septal Defect 1

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 GRCh38 Chromosome 12, 114398639: 114398639
2 TBX5 NM_181486.2(TBX5): c.444G> A (p.Trp148Ter) single nucleotide variant Pathogenic 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

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

# Name GO ID Score Top Affiliating Genes
1 protein localization GO:0008104 8.62 CD81 NBEA

Sources for Atrial Septal Defect 1

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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