MCID: ATR056
MIFTS: 21

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 54 12 24 71 29 13 69
Asd9 12 71
Atrial Heart Septal Defect 9 12

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
atrial septal defect 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614475
Disease Ontology 12 DOID:0110114
ICD10 33 Q21.1
MedGen 40 C3280943
MeSH 42 D006344

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 pulmonary arterial hypertension and secundum atrial septal defect. An important gene associated with Atrial Septal Defect 9 is GATA6 (GATA Binding Protein 6). The drugs Bupivacaine and Epinephrine have been mentioned in the context of this disorder. 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:

54

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
id Description HPO Frequency HPO Source Accession
1 pulmonary arterial hypertension 32 occasional (7.5%) HP:0002092
2 secundum atrial septal defect 32 HP:0001684

Drugs & Therapeutics for Atrial Septal Defect 9

Drugs for Atrial Septal Defect 9 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
4 Racepinephrine Approved Phase 4
5 Anesthetics Phase 4
6 Anesthetics, Local Phase 4
7 Carticaine Phase 4
8 Central Nervous System Depressants Phase 4
9 Epinephryl borate Phase 4
10 Peripheral Nervous System Agents Phase 4
11 Pharmaceutical Solutions Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Comparison of the Local Anaesthetics Articaine and Bupivacaine in Treatment of Acute Sternum Pain After Heart Surgery Unknown status NCT01536717 Phase 4 Articaine hydrochloride 2% solution;Sodium Chloride
2 Medtronic Concomitant Utilization of Radio Frequency for Atrial Fibrillation CURE-AF/Persistent Completed NCT00506493 Phase 3
3 Intravenous L-Citrulline to Treat Children Undergoing Heart Bypass Surgery : Revised Protocol Completed NCT01120964 Phase 1, Phase 2 Intravenous L-Citrulline;Placebo of Intravenous L-Citrulline

Search NIH Clinical Center for Atrial Septal Defect 9

Genetic Tests for Atrial Septal Defect 9

Genetic tests related to Atrial Septal Defect 9:

id Genetic test Affiliating Genes
1 Atrial Septal Defect 9 29 24 GATA6

Anatomical Context for Atrial Septal Defect 9

MalaCards organs/tissues related to Atrial Septal Defect 9:

39
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
id Symbol AA change Variation ID SNP ID
1 GATA6 p.Ser184Asn VAR_067382 rs387906816

ClinVar genetic disease variations for Atrial Septal Defect 9:

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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