MCID: ATR010
MIFTS: 35

Atrial Heart Septal Defect malady

Cardiovascular, Endocrine categories

Summaries for Atrial Heart Septal Defect

Sources:
64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:64 Atrial septal defect (ASD) is a form of congenital heart defect that enables blood flow between two... more...

MalaCards: Atrial Heart Septal Defect, also known as thyroid hormone plasma membrane transport defect, is related to holt-oram syndrome and noonan syndrome. An important gene associated with Atrial Heart Septal Defect is KCNJ13 (potassium inwardly-rectifying channel, subfamily J, member 13), and among its related pathways is Cardiac Progenitor Differentiation. Affiliated tissues include brain, heart and thyroid.

Description from OMIM:47 613087,612794,607941,611363

Aliases & Classifications for Atrial Heart Septal Defect

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 45Novoseek, 57SNOMED-CT, 47OMIM, 35MeSH, 40NCIt, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular, Endocrine


Aliases & Descriptions:

atrial heart septal defect 8 10
thyroid hormone plasma membrane transport defect 61
congenital atrial septal defect 8
interauricular septal defect 8
auricular septal defect nos 8
interatrial septal defect 8
atrial septal defect nos 8
atrial septal defects 45
atrial septal defect 8
heart septal defects 61
atrioseptal defect 8


Related Diseases for Atrial Heart Septal Defect

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Atrial Heart Septal Defect family:

congenital heart disease, atrial septal defect

Diseases related to Atrial Heart Septal Defect via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 276)
idRelated DiseaseScoreTop Affiliating Genes
1holt-oram syndrome30.5MYH6
2noonan syndrome30.1MYH6, NKX2-5
3ventricular septal defect10.8
4patent foramen ovale10.8
5atrial septal aneurysm10.7
6thyroid hormone plasma membrane transport defect10.6
7atrioventricular septal defect10.6
8patent ductus arteriosus10.6
9atrial septal defect sinus venosus10.6
10dextrocardia10.6
11eisenmenger syndrome10.6
12pulmonic stenosis10.6
13situs inversus10.6
14n syndrome10.6
15atrial septal defect ostium primum10.6
16atrial septal defect coronary sinus10.5
17atrial septal defect 810.5
18lutembacher's syndrome10.5
19tricuspid atresia10.5
20familial pulmonary arterial hypertension leucopenia and atrial septal defect10.5
21tarp syndrome10.5
22atrial septal defect 510.5
23atrial septal defect 310.5
24atrial septal defect 610.5
25constrictive pericarditis10.4
26congenital heart disease, atrial septal defect10.4
27atrial septal defect 410.4
28atrial septal defect 210.4
29glanzmann's thrombasthenia10.4
30takayasu's arteritis10.4
31congenital diaphragmatic hernia10.4
32urea cycle disorder10.4
33hereditary folate malabsorption10.4
34zap70-related severe combined immunodeficiency10.4
35acro-pectoro-renal field defect10.4
36ankle defects short stature10.4
37axial mesodermal dysplasia spectrum10.4
38branchial arch defects10.4
39sacral defect with anterior meningocele10.4
40caudal regression syndrome10.4
41chylomicron retention disease10.4
42x-linked creatine deficiency10.4
43cystinosis, ocular nonnephropathic10.4
44hmg coa lyase deficiency10.4
45imerslund-grasbeck syndrome10.4
46defective apolipoprotein b-10010.4
47diaphragmatic hernia upper limb defects10.4
48peroxisome disorders10.4
49heart defect, tongue hamartoma and polysyndactyly10.4
50hermansky pudlak syndrome 210.4

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



Diseases related to atrial heart septal defect

Clinical Features for Atrial Heart Septal Defect

Sources:
47OMIM
See all sources

Clinical features from OMIM:

613087,612794,607941,611363

Drugs & Therapeutics for Atrial Heart Septal Defect

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Atrial Heart Septal Defect

Drug clinical trials:

Search ClinicalTrials for Atrial Heart Septal Defect

Search NIH Clinical Center for Atrial Heart Septal Defect

Search CenterWatch for Atrial Heart Septal Defect

Genetic Tests for Atrial Heart Septal Defect

Anatomical Context for Atrial Heart Septal Defect

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Atrial Heart Septal Defect:

33
Brain, Heart, Thyroid

Animal Models for Atrial Heart Septal Defect or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Atrial Heart Septal Defect

Sources:
51PubMed
See all sources

Articles related to Atrial Heart Septal Defect:

(show all 21)
idTitleAuthorsYear
1
Heart failure after transvenous closure of atrial septal defect associated with atrial standstill and thiamine-responsive megaloblastic anemia. (24164997)
2013
2
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. (23708191)
2013
3
Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) - a case report and review of congenital heart defects reported in the human ciliopathies. (22910529)
2012
4
Port-access heart surgery for the treatment of cor triatriatum with atrial septal defect: Report of a case. (21922368)
2011
5
Maternal alcohol drinking pattern during pregnancy and the risk for an offspring with an isolated congenital heart defect and in particular a ventricular septal defect or an atrial septal defect. (21591246)
2011
6
Echocardiographic diagnosis of atrioventricular septal defect without primum atrial septal defect: a relatively "common" congenital heart defect in Down's syndrome. (21362598)
2011
7
Left atrial volume in children without heart disease and in those with ventricular septal defect or patent ductus arteriosus or hypertrophic cardiomyopathy. (21059443)
2010
8
Usefulness of early diastolic mitral annular velocity to predict plasma levels of brain natriuretic peptide and transient heart failure development after device closure of atrial septal defect. (19962485)
2009
9
Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects. (19678963)
2009
10
Early atrial septal defect surgery due to a bronchogenic cyst causing congestive heart failure by left atrium compression. (18375450)
2008
11
Hypoplastic left heart syndrome with restrictive atrial septal defect: influence on cardiac transplantation. (15493071)
2004
12
Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. (12798584)
2003
13
Prevalence and prognosis of atrial septal aneurysm in high risk fetuses without structural heart defects. (12066564)
2002
14
Acyanotic congenital heart disease. Atrial and ventricular septal defects, atrioventricular canal, patent ductus arteriosus, pulmonic stenosis. (8252562)
1993
15
Right-sided heart with mirror-image atrial arrangement, complete transposition, ventricular septal defect and subpulmonary stenosis. (2914748)
1989
16
Left atrial isomerism combined with right-sided heart, common atrium, incomplete atrioventricular septal defect and partial anomalous systemic and pulmonary venous drainage. Report of a case with successful surgical correction. (3397202)
1988
17
Long-term management of bradyarrhythmias following open heart surgery: surgical A-V block and sick sinus syndrome after surgery for secundum atrial septal defects treated with permanent cardiac pacing. (3099026)
1986
18
Balloon occlusion of atrial septal defect to assess right ventricular capability in hypoplastic right heart syndrome. (6225563)
1983
19
Persistent Eustachian valve causing severe cyanosis in atrial septal defect with normal right heart pressures. (6824197)
1983
20
Rheumatic heart disease associated with atrial septal defect: clinical and pathologic study of 12 cases of Lutembacher's syndrome. (13617192)
1959
21
CONGENITAL HEART BLOCK WITH ATRIAL AND VENTRICULAR SEPTAL DEFECT. (18609914)
1943

Genetic Variations for Atrial Heart Septal Defect

Expression for genes affiliated with Atrial Heart Septal Defect

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Atrial Heart Septal Defect

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

Pathways for genes affiliated with Atrial Heart Septal Defect

Sources:
38NCBI BioSystems Database
See all sources

Pathways related to Atrial Heart Septal Defect according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5MYH6, NKX2-5

Compounds for genes affiliated with Atrial Heart Septal Defect

GO Terms for genes affiliated with Atrial Heart Septal Defect

Sources:
16Gene Ontology
See all sources

Biological processes related to Atrial Heart Septal Defect according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1adult heart developmentGO:0075129.5MYH6, NKX2-5
2canonical Wnt receptor signaling pathwayGO:0600709.5MYH6, NKX2-5
3sarcomere organizationGO:0452149.4MYH6, NKX2-5
4BMP signaling pathwayGO:0305099.2MYH6, NKX2-5

Products for genes affiliated with Atrial Heart Septal Defect

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Atrial Heart Septal Defect

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet