MCID: ATR018
MIFTS: 20

Atrial Septal Defect Ostium Primum

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Atrial Septal Defect Ostium Primum

MalaCards integrated aliases for Atrial Septal Defect Ostium Primum:

Name: Atrial Septal Defect Ostium Primum 52
Atrial Septal Defect, Ostium Primum Type 58
Asd, Ostium Primum Type 58
Asd Ostium Primum Type 52
Ostium Primum Asd 52

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 C548006
ICD10 via Orphanet 33 Q21.2
UMLS via Orphanet 72 C0741296
Orphanet 58 ORPHA99106

Summaries for Atrial Septal Defect Ostium Primum

MalaCards based summary : Atrial Septal Defect Ostium Primum, also known as atrial septal defect, ostium primum type, is related to heart septal defect and atrial heart septal defect. An important gene associated with Atrial Septal Defect Ostium Primum is TLL1 (Tolloid Like 1). Affiliated tissues include heart and lung, and related phenotypes are recurrent respiratory infections and failure to thrive

Related Diseases for Atrial Septal Defect Ostium Primum

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

# Related Disease Score Top Affiliating Genes
1 heart septal defect 10.5
2 atrial heart septal defect 10.5
3 atrial septal defect coronary sinus 10.3
4 progressive familial heart block, type ia 10.3
5 progressive familial heart block, type ib 10.3
6 otopalatodigital syndrome spectrum disorder 10.3
7 right bundle branch block 10.3

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



Diseases related to Atrial Septal Defect Ostium Primum

Symptoms & Phenotypes for Atrial Septal Defect Ostium Primum

Human phenotypes related to Atrial Septal Defect Ostium Primum:

58 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 58 Frequent (79-30%)
2 failure to thrive 58 Occasional (29-5%)
3 fatigue 58 Frequent (79-30%)
4 atrioventricular block 58 Occasional (29-5%)
5 dyspnea 58 Occasional (29-5%)
6 congestive heart failure 58 Occasional (29-5%)
7 pulmonary arterial hypertension 58 Occasional (29-5%)
8 mitral regurgitation 58 Frequent (79-30%)
9 left ventricular hypertrophy 58 Frequent (79-30%)
10 hemoptysis 58 Occasional (29-5%)
11 pulmonary artery dilatation 58 Frequent (79-30%)
12 clubbing of toes 58 Occasional (29-5%)
13 syncope 58 Occasional (29-5%)
14 atrial fibrillation 58 Occasional (29-5%)
15 right bundle branch block 58 Frequent (79-30%)
16 tachypnea 58 Occasional (29-5%)
17 cyanosis 58 Occasional (29-5%)
18 tricuspid regurgitation 58 Frequent (79-30%)
19 exertional dyspnea 58 Frequent (79-30%)
20 first degree atrioventricular block 58 Frequent (79-30%)
21 peripheral edema 58 Occasional (29-5%)
22 obstructive lung disease 58 Occasional (29-5%)
23 thromboembolism 58 Occasional (29-5%)
24 palpitations 58 Frequent (79-30%)
25 exercise intolerance 58 Occasional (29-5%)
26 clubbing of fingers 58 Occasional (29-5%)
27 right ventricular dilatation 58 Frequent (79-30%)
28 atrial flutter 58 Occasional (29-5%)
29 right-to-left shunt 58 Occasional (29-5%)
30 right atrial enlargement 58 Occasional (29-5%)
31 left atrial enlargement 58 Occasional (29-5%)
32 decreased pulmonary function 58 Occasional (29-5%)
33 abnormal p wave 58 Frequent (79-30%)
34 prolonged pr interval 58 Frequent (79-30%)
35 systolic heart murmur 58 Frequent (79-30%)
36 abnormally loud pulmonic component of the second heart sound 58 Frequent (79-30%)
37 third heart sound 58 Frequent (79-30%)
38 fixed splitting of the second heart sound 58 Frequent (79-30%)

Drugs & Therapeutics for Atrial Septal Defect Ostium Primum

Search Clinical Trials , NIH Clinical Center for Atrial Septal Defect Ostium Primum

Genetic Tests for Atrial Septal Defect Ostium Primum

Anatomical Context for Atrial Septal Defect Ostium Primum

MalaCards organs/tissues related to Atrial Septal Defect Ostium Primum:

40
Heart, Lung

Publications for Atrial Septal Defect Ostium Primum

Articles related to Atrial Septal Defect Ostium Primum:

(show all 20)
# Title Authors PMID Year
1
Arrhythmias and conduction disorders associated with atrial septal defects. 61
30305954 2018
2
[Linear insertion of atrioventricular valves in children with and without Down's syndrome]. 61
25011372 2014
3
Tetralogy of Fallot with Holt-Oram syndrome. 61
22572437 2012
4
Surgical repair of a complete endocardial cushion defect in a dog. 61
21395617 2011
5
[Surgical relevance of some aspects of heart's embriology]. 61
18924352 2008
6
The matricellular protein CCN1 is essential for cardiac development. 61
17023674 2006
7
[Atrio-ventricular canal: possibilities of recovery]. 61
14756064 2003
8
Cardiac malformations associated with the Holt-Oram syndrome--report on a family and review of the literature. 61
12375192 2002
9
[Three different types of atrial septal defects in the same family]. 61
10367085 1999
10
[Coronary fistula --clinical and angiographic review]. 61
8049092 1994
11
Evaluation of ventricular septal defect by transesophageal echocardiography: intraoperative assessment. 61
8122606 1994
12
[The Ellis-Van Creveld syndrome. Apropos 2 clinical cases]. 61
8155349 1994
13
[Transthoracic and transesophageal echocardiography in the pre- and postoperative assessment of interatrial communication]. 61
8134694 1993
14
Holt-Oram syndrome associated with hypoplastic peripheral vasculature and midsystolic click. 61
8465226 1993
15
Uses and limitations of transthoracic echocardiography in the assessment of atrial septal defect in the adult. 61
1990793 1991
16
[Normal and impaired development of the ostium primum type atrial septal defect]. 61
2327663 1990
17
Detection of atrial septal defect by right sternal border echocardiography. 61
6465019 1984
18
Intracardiac conduction intervals in children with congenital heart disease: comparison of His bundle studies in 41 normal children and 307 patients with congenital cardiac defects. 61
832344 1977
19
The superior QRS axis in ostium primum ASD: a proposed mechanism. 61
125536 1975
20
Relationship between the ECG, ventricular activation, and the ventricular conduction system in ostium primum ASD. 61
4726238 1973

Variations for Atrial Septal Defect Ostium Primum

Expression for Atrial Septal Defect Ostium Primum

Search GEO for disease gene expression data for Atrial Septal Defect Ostium Primum.

Pathways for Atrial Septal Defect Ostium Primum

GO Terms for Atrial Septal Defect Ostium Primum

Sources for Atrial Septal Defect Ostium Primum

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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