ASD8
MCID: ATR065
MIFTS: 32

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 57 12 73 29 13 6 71
Asd8 57 12 73
Atrial Heart Septal Defect 8 12 15
Septal Defect, Atrial, Type 8 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
atrial septal defect 8:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110113
OMIM® 57 614433
OMIM Phenotypic Series 57 PS108800
MeSH 44 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, also known as asd8, is related to vagus nerve disease and necrotizing gastritis. 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

Diseases in the Atrial Septal Defect 2 family:

Atrial Septal Defect 1 Atrial Septal Defect 4
Atrial Septal Defect 5 Atrial Septal Defect 6
Atrial Septal Defect 3 Atrial Septal Defect 8
Atrial Septal Defect 9

Diseases related to Atrial Septal Defect 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 vagus nerve disease 10.3 ATP4A ATP12A
2 necrotizing gastritis 10.3 ATP4A ATP12A
3 scalp dermatosis 10.3 ATP4A ATP12A
4 hemangioma of intra-abdominal structure 10.3 ATP4A ATP12A
5 acquired gastric outlet stenosis 10.3 ATP4A ATP12A
6 lingual goiter 10.3 ATP4A ATP12A
7 displacement of cardia through esophageal hiatus 10.3 ATP4A ATP12A
8 bacterial esophagitis 10.3 ATP4A ATP12A
9 cascade stomach 10.3 ATP4A ATP12A
10 benzylpenicillin allergy 10.3 ATP4A ATP12A
11 median arcuate ligament syndrome 10.3 ATP4A ATP12A
12 afferent loop syndrome 10.3 ATP4A ATP12A
13 cervix erosion 10.3 ATP4A ATP12A
14 angiodysplasia of intestine 10.3 ATP4A ATP12A
15 angiodysplasia 10.3 ATP4A ATP12A
16 granulomatous gastritis 10.3 ATP4A ATP12A
17 laryngeal tuberculosis 10.3 ATP4A ATP12A
18 fungal esophagitis 10.3 ATP4A ATP12A
19 dieulafoy lesion 10.3 ATP4A ATP12A
20 esophagus melanoma 10.2 ATP4A ATP12A
21 cefuroxime allergy 10.2 ATP4A ATP12A
22 emphysematous cholecystitis 10.2 ATP4A ATP12A
23 gastric gastrinoma 10.2 ATP4A ATP12A
24 superior mesenteric artery syndrome 10.2 ATP4A ATP12A
25 pneumatosis cystoides intestinalis 10.2 ATP4A ATP12A
26 chronic laryngitis 10.2 ATP4A ATP12A
27 laryngitis 10.2 ATP4A ATP12A
28 peptic ulcer perforation 10.2 ATP4A ATP12A
29 viral laryngitis 10.2 ATP4A ATP12A
30 gastroduodenal crohn's disease 10.2 ATP4A ATP12A
31 polyposis, skin pigmentation, alopecia, and fingernail changes 10.2 ATP4A ATP12A
32 central nervous system origin vertigo 10.2 ATP4A ATP12A
33 rumination disorder 10.2 ATP4A ATP12A
34 internal hemorrhoid 10.2 ATP4A ATP12A
35 hemorrhoid 10.2 ATP4A ATP12A
36 acute laryngitis 10.2 ATP4A ATP12A
37 gastroduodenitis 10.2 ATP4A ATP12A
38 duodenitis 10.2 ATP4A ATP12A
39 chronic intestinal vascular insufficiency 10.2 ATP4A ATP12A
40 barbiturate abuse 10.2 ATP4A ATP12A
41 duodenal gastrinoma 10.2 ATP4A ATP12A
42 gastric dilatation 10.2 ATP4A ATP12A
43 gastric hemangioma 10.2 ATP4A ATP12A
44 blind loop syndrome 10.2 ATP4A ATP12A
45 polycystic echinococcosis 10.2 ATP4A ATP12A
46 diclofenac allergy 10.2 ATP4A ATP12A
47 lymphocytic gastritis 10.2 ATP4A ATP12A
48 x-linked chondrodysplasia punctata 1 10.2 ATP4A ATP12A
49 mediastinitis 10.2 ATP4A ATP12A
50 char syndrome 10.2 CRELD1 CITED2

Graphical network of the top 20 diseases related to Atrial Septal Defect 8:



Diseases related to 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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Atrial Septal Defect 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.32 ATP12A ATP4A CD163 CD200 CITED2 DDX58

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:

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. 57 6
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 Ia┼či 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
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal. 61
10586172 1999
7
Distal calcarine fusiform aneurysm: a case report and review of literature. 61
10625908 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, NT534 Insertion Pathogenic 6722
2 CITED2 CITED2, 6-BP DEL, NT592 Deletion Pathogenic 6723
3 CITED2 NM_006079.5(CITED2):c.701A>C (p.Glu234Ala) SNV Likely pathogenic 804240 rs1583066622 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

Biological processes related to Atrial Septal Defect 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of amyloid-beta formation GO:1902430 9.4 SORL1 IGF1
2 cellular sodium ion homeostasis GO:0006883 9.37 ATP4A ATP12A
3 sodium ion export across plasma membrane GO:0036376 9.32 ATP4A ATP12A
4 cellular potassium ion homeostasis GO:0030007 9.26 ATP4A ATP12A
5 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.16 ATP4A ATP12A
6 negative regulation of neuroinflammatory response GO:0150079 8.96 IGF1 CD200
7 endocardial cushion development GO:0003197 8.62 CRELD1 CITED2

Molecular functions related to Atrial Septal Defect 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium:potassium-exchanging ATPase activity GO:0005391 9.16 ATP4A ATP12A
2 potassium-transporting ATPase activity GO:0008556 8.96 ATP4A ATP12A
3 potassium:proton exchanging ATPase activity GO:0008900 8.62 ATP4A ATP12A

Sources for Atrial Septal Defect 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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