MCID: ATR056
MIFTS: 17

Atrial Septal Defect 9

Categories: Genetic diseases, Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Atrial Septal Defect 9

MalaCards integrated aliases for Atrial Septal Defect 9:

Name: Atrial Septal Defect 9 57 12 75 29 13 6 73
Asd9 57 12 75
Septal Defect, Atrial, Type 9 40
Atrial Heart Septal Defect 9 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
atrial septal defect 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614475
Disease Ontology 12 DOID:0110114
ICD10 33 Q21.1
MedGen 42 C3280943
MeSH 44 D006344
UMLS 73 C3280943

Summaries for Atrial Septal Defect 9

UniProtKB/Swiss-Prot : 75 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 secundum atrial septal defect and pulmonary arterial hypertension

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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 secundum atrial septal defect 32 HP:0001684
2 pulmonary arterial hypertension 32 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 29 GATA6

Anatomical Context for Atrial Septal Defect 9

MalaCards organs/tissues related to Atrial Septal Defect 9:

41
Heart

Publications for Atrial Septal Defect 9

Variations for Atrial Septal Defect 9

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

75
# 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

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 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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