ASD8
MCID: ATR065
MIFTS: 24

Atrial Septal Defect 8 (ASD8)

Categories: Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Atrial Septal Defect 8

MalaCards integrated aliases for Atrial Septal Defect 8:

Name: Atrial Septal Defect 8 56 12 73 29 13 6 71
Asd8 56 12 73
Atrial Heart Septal Defect 8 12 15
Septal Defect, Atrial, Type 8 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
atrial septal defect 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110113
OMIM 56 614433
OMIM Phenotypic Series 56 PS108800
MeSH 43 D006344
ICD10 32 Q21.1
MedGen 41 C3280790
UMLS 71 C3280790

Summaries for Atrial Septal Defect 8

UniProtKB/Swiss-Prot : 73 Atrial septal defect 8: 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.

MalaCards based summary : Atrial Septal Defect 8, is also known as asd8. An important gene associated with Atrial Septal Defect 8 is CITED2 (Cbp/P300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 2). Affiliated tissues include heart, and related phenotypes are atrial septal defect and anomalous pulmonary venous return

Disease Ontology : 12 An atrial heart septal defect that has material basis in heterozygous mutation in the CITED2 gene on chromosome 6q23.3.

More information from OMIM: 614433 PS108800

Related Diseases for Atrial Septal Defect 8

Symptoms & Phenotypes for Atrial Septal Defect 8

Human phenotypes related to Atrial Septal Defect 8:

31
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 31 very rare (1%) HP:0001631
2 anomalous pulmonary venous return 31 very rare (1%) HP:0010772

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
atrial septal defect, secundum type (in some patients)
atrial septal defect, sinus venosus type (in some patients)

Cardiovascular Vascular:
abnormal pulmonary venous return to right atria (in some patients)

Clinical features from OMIM:

614433

GenomeRNAi Phenotypes related to Atrial Septal Defect 8 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.28 CITED2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-171 9.28 ALYREF
3 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.28 ALYREF
4 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.28 ALYREF CITED2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.28 CITED2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.28 ALYREF
7 Increased shRNA abundance (Z-score > 2) GR00366-A-75 9.28 CITED2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.28 CITED2

Drugs & Therapeutics for Atrial Septal Defect 8

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Registry of Patients With Isolated Severe Tricuspid Regurgitation Recruiting NCT01502462

Search NIH Clinical Center for Atrial Septal Defect 8

Genetic Tests for Atrial Septal Defect 8

Genetic tests related to Atrial Septal Defect 8:

# Genetic test Affiliating Genes
1 Atrial Septal Defect 8 29 CITED2

Anatomical Context for Atrial Septal Defect 8

MalaCards organs/tissues related to Atrial Septal Defect 8:

40
Heart

Publications for Atrial Septal Defect 8

Articles related to Atrial Septal Defect 8:

# Title Authors PMID Year
1
Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. 6 56
16287139 2005
2
Echocardiographic findings in infants with presumed congenital Zika syndrome: Retrospective case series study. 61
28426680 2017
3
[Clinical epidemiological retro prospective studies on the incidence and prevalence of cardiac congenital abnormalities in a group of 1570 children, born in Iaşi between 2000-2009]. 61
21500469 2010
4
Cri-du-chat syndrome. 61
18437967 2007
5
Heart murmur in the first week of life: Siriraj Hospital. 61
16856437 2005
6
Distal calcarine fusiform aneurysm: a case report and review of literature. 61
10625908 1999
7
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal. 61
10586172 1999
8
Results of surgical treatment of congenital heart defects in children with Down's syndrome. 61
10441690 1999
9
[Non-invasive evaluation with continuous Doppler of the systolic pressure of the right ventricle in patients with tricuspid insufficiency]. 61
3692071 1987

Variations for Atrial Septal Defect 8

ClinVar genetic disease variations for Atrial Septal Defect 8:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CITED2 CITED2, 27-BP INS, NT534insertion Pathogenic 6722
2 CITED2 CITED2, 6-BP DEL, NT592deletion Pathogenic 6723
3 CITED2 NM_006079.5(CITED2):c.701A>C (p.Glu234Ala)SNV Likely pathogenic 804240 6:139694381-139694381 6:139373244-139373244

Expression for Atrial Septal Defect 8

Search GEO for disease gene expression data for Atrial Septal Defect 8.

Pathways for Atrial Septal Defect 8

GO Terms for Atrial Septal Defect 8

Sources for Atrial Septal Defect 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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