MCID: ATR056
MIFTS: 16

Atrial Septal Defect 9

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Atrial Septal Defect 9

MalaCards integrated aliases for Atrial Septal Defect 9:

Name: Atrial Septal Defect 9 53 12 71 28 13 69
Asd9 53 12 71
Atrial Heart Septal Defect 9 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
atrial septal defect 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 614475
Disease Ontology 12 DOID:0110114
ICD10 32 Q21.1
MedGen 39 C3280943
MeSH 41 D006344
UMLS 69 C3280943

Summaries for Atrial Septal Defect 9

UniProtKB/Swiss-Prot : 71 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, and has symptoms including secundum atrial septal defect and pulmonary arterial hypertension. An important gene associated with Atrial Septal Defect 9 is GATA6 (GATA Binding Protein 6). Affiliated tissues include heart.

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

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Atrial Septal Defect 9:

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

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 28 GATA6

Anatomical Context for Atrial Septal Defect 9

MalaCards organs/tissues related to Atrial Septal Defect 9:

38
Heart

Publications for Atrial Septal Defect 9

Variations for Atrial Septal Defect 9

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

71
# 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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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