ASD9
MCID: ATR056
MIFTS: 26

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 57 12 72 29 13 6 70
Asd9 57 12 72
Atrial Heart Septal Defect 9 12 15
Septal Defect, Atrial, Type 9 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
atrial septal defect 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110114
OMIM® 57 614475
OMIM Phenotypic Series 57 PS108800
MeSH 44 D006344
ICD10 32 Q21.1
MedGen 41 C3280943
UMLS 70 C3280943

Summaries for Atrial Septal Defect 9

UniProtKB/Swiss-Prot : 72 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, also known as asd9, is related to tricuspid atresia and dyscalculia. 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.

More information from OMIM: 614475 PS108800

Related Diseases for Atrial Septal Defect 9

Graphical network of the top 20 diseases related to Atrial Septal Defect 9:



Diseases related to Atrial Septal Defect 9

Symptoms & Phenotypes for Atrial Septal Defect 9

Human phenotypes related to Atrial Septal Defect 9:

31
# Description HPO Frequency HPO Source Accession
1 pulmonary arterial hypertension 31 occasional (7.5%) HP:0002092
2 secundum atrial septal defect 31 HP:0001684

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Atrial Septal Defect 9 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-136 9.28 PRODH
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.28 PRODH
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-192 9.28 PRODH
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 9.28 PRODH
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.28 PRODH
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-4 9.28 PRODH
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-5 9.28 PRODH
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.28 PRODH
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.28 PRODH

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 29 GATA6

Anatomical Context for Atrial Septal Defect 9

MalaCards organs/tissues related to Atrial Septal Defect 9:

40
Heart

Publications for Atrial Septal Defect 9

Articles related to Atrial Septal Defect 9:

# Title Authors PMID Year
1
A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 6 57
20631719 2010
2
Early and late outcomes of surgical repair of double-chambered right ventricle: a single-centre experience. 61
32063236 2020
3
Computer-enhanced telemanipulation enables a variety of totally endoscopic cardiac procedures. 61
12375184 2002
4
Early clinical screening of neonates for congenital heart defects: the cases we miss. 61
10323515 1999

Variations for Atrial Septal Defect 9

ClinVar genetic disease variations for Atrial Septal Defect 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATA6 NM_005257.5(GATA6):c.551G>A (p.Ser184Asn) SNV Pathogenic/Likely pathogenic 30210 rs387906816 GRCh37: 18:19751656-19751656
GRCh38: 18:22171695-22171695
2 GATA6 NM_005257.5(GATA6):c.233T>C (p.Leu78Pro) SNV Uncertain significance 540134 rs1253034411 GRCh37: 18:19751338-19751338
GRCh38: 18:22171377-22171377
3 GATA6 NM_005257.5(GATA6):c.839G>C (p.Gly280Ala) SNV Uncertain significance 540131 rs904519303 GRCh37: 18:19751944-19751944
GRCh38: 18:22171983-22171983
4 GATA6 NM_005257.6(GATA6):c.706G>T (p.Gly236Cys) SNV Uncertain significance 857098 GRCh37: 18:19751811-19751811
GRCh38: 18:22171850-22171850

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

72
# Symbol AA change Variation ID SNP ID
1 GATA6 p.Ser184Asn VAR_067382 rs387906816

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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