ASD9
MCID: ATR056
MIFTS: 17

Atrial Septal Defect 9 (ASD9)

Categories: Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Atrial Septal Defect 9

MalaCards integrated aliases for Atrial Septal Defect 9:

Name: Atrial Septal Defect 9 58 12 76 30 13 6 74
Asd9 58 12 76
Septal Defect, Atrial, Type 9 41
Atrial Heart Septal Defect 9 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
atrial septal defect 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110114
OMIM 58 614475
MeSH 45 D006344
ICD10 34 Q21.1
MedGen 43 C3280943
UMLS 74 C3280943

Summaries for Atrial Septal Defect 9

UniProtKB/Swiss-Prot : 76 Atrial septal defect 9: 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. Some patients manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension.

MalaCards based summary : Atrial Septal Defect 9, is also known as asd9. An important gene associated with Atrial Septal Defect 9 is GATA6 (GATA Binding Protein 6). Affiliated tissues include heart, and related phenotypes are pulmonary arterial hypertension and secundum atrial septal defect

Disease Ontology : 12 An atrial heart septal defect that has material basis in heterozygous mutation in the GATA6 gene on chromosome 18q11.

Description from OMIM: 614475

Related Diseases for Atrial Septal Defect 9

Symptoms & Phenotypes for Atrial Septal Defect 9

Human phenotypes related to Atrial Septal Defect 9:

33
# Description HPO Frequency HPO Source Accession
1 pulmonary arterial hypertension 33 occasional (7.5%) HP:0002092
2 secundum atrial septal defect 33 HP:0001684

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
atrial septal defect, ostium secundum type
tricuspid valve disease (in some patients)
pulmonary valve disease (in some patients)

Cardiovascular Vascular:
pulmonary artery hypertension (in some patients)

Clinical features from OMIM:

614475

Drugs & Therapeutics for Atrial Septal Defect 9

Search Clinical Trials , NIH Clinical Center for Atrial Septal Defect 9

Genetic Tests for Atrial Septal Defect 9

Genetic tests related to Atrial Septal Defect 9:

# Genetic test Affiliating Genes
1 Atrial Septal Defect 9 30 GATA6

Anatomical Context for Atrial Septal Defect 9

MalaCards organs/tissues related to Atrial Septal Defect 9:

42
Heart

Publications for Atrial Septal Defect 9

Articles related to Atrial Septal Defect 9:

# Title Authors Year
1
A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. ( 20631719 )
2010

Variations for Atrial Septal Defect 9

UniProtKB/Swiss-Prot genetic disease variations for Atrial Septal Defect 9:

76
# Symbol AA change Variation ID SNP ID
1 GATA6 p.Ser184Asn VAR_067382 rs387906816

ClinVar genetic disease variations for Atrial Septal Defect 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GATA6 NM_005257.5(GATA6): c.551G> A (p.Ser184Asn) single nucleotide variant Pathogenic rs387906816 GRCh37 Chromosome 18, 19751656: 19751656
2 GATA6 NM_005257.5(GATA6): c.551G> A (p.Ser184Asn) single nucleotide variant Pathogenic rs387906816 GRCh38 Chromosome 18, 22171695: 22171695
3 GATA6 NM_005257.5(GATA6): c.233T> C (p.Leu78Pro) single nucleotide variant Uncertain significance rs1253034411 GRCh37 Chromosome 18, 19751338: 19751338
4 GATA6 NM_005257.5(GATA6): c.233T> C (p.Leu78Pro) single nucleotide variant Uncertain significance rs1253034411 GRCh38 Chromosome 18, 22171377: 22171377
5 GATA6 NM_005257.5(GATA6): c.839G> C (p.Gly280Ala) single nucleotide variant Uncertain significance rs904519303 GRCh37 Chromosome 18, 19751944: 19751944
6 GATA6 NM_005257.5(GATA6): c.839G> C (p.Gly280Ala) single nucleotide variant Uncertain significance rs904519303 GRCh38 Chromosome 18, 22171983: 22171983

Expression for Atrial Septal Defect 9

Search GEO for disease gene expression data for Atrial Septal Defect 9.

Pathways for Atrial Septal Defect 9

GO Terms for Atrial Septal Defect 9

Sources for Atrial Septal Defect 9

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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