ASD8
MCID: ATR065
MIFTS: 17

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 58 12 76 30 13 6 74
Asd8 58 12 76
Septal Defect, Atrial, Type 8 41
Atrial Heart Septal Defect 8 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
atrial septal defect 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110113
OMIM 58 614433
MeSH 45 D006344
ICD10 34 Q21.1
MedGen 43 C3280790
UMLS 74 C3280790

Summaries for Atrial Septal Defect 8

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 614433

Related Diseases for Atrial Septal Defect 8

Symptoms & Phenotypes for Atrial Septal Defect 8

Human phenotypes related to Atrial Septal Defect 8:

33
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 33 very rare (1%) HP:0001631
2 anomalous pulmonary venous return 33 very rare (1%) HP:0010772

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Atrial Septal Defect 8

Search Clinical Trials , 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 30 CITED2

Anatomical Context for Atrial Septal Defect 8

MalaCards organs/tissues related to Atrial Septal Defect 8:

42
Heart

Publications for Atrial Septal Defect 8

Variations for Atrial Septal Defect 8

ClinVar genetic disease variations for Atrial Septal Defect 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CITED2 CITED2, 27-BP INS, NT534 insertion Pathogenic
2 CITED2 CITED2, 6-BP DEL, NT592 deletion Pathogenic

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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