MCID: ATR065
MIFTS: 17

Atrial Septal Defect 8

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

Aliases & Classifications for Atrial Septal Defect 8

MalaCards integrated aliases for Atrial Septal Defect 8:

Name: Atrial Septal Defect 8 57 12 75 29 13 6 73
Asd8 57 12 75
Septal Defect, Atrial, Type 8 40
Atrial Heart Septal Defect 8 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
atrial septal defect 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614433
Disease Ontology 12 DOID:0110113
ICD10 33 Q21.1
MedGen 42 C3280790
MeSH 44 D006344
UMLS 73 C3280790

Summaries for Atrial Septal Defect 8

UniProtKB/Swiss-Prot : 75 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 phenotype is atrial septal defect.

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Atrial Septal Defect 8:

32
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 32 HP:0001631

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 29 CITED2

Anatomical Context for Atrial Septal Defect 8

MalaCards organs/tissues related to Atrial Septal Defect 8:

41
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 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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