MCID: ATR018
MIFTS: 22

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 20
Atrial Septal Defect, Ostium Primum Type 58
Asd, Ostium Primum Type 58
Asd Ostium Primum Type 20
Ostium Primum Asd 20

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


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 progressive familial heart block, type ia and progressive familial heart block, type ib. 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 fatigue

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 progressive familial heart block, type ia 10.2
2 progressive familial heart block, type ib 10.2
3 otopalatodigital syndrome spectrum disorder 10.2
4 right bundle branch block 10.2

Symptoms & Phenotypes for Atrial Septal Defect Ostium Primum

Human phenotypes related to Atrial Septal Defect Ostium Primum:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
2 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
3 mitral regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0001653
4 left ventricular hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001712
5 pulmonary artery dilatation 58 31 frequent (33%) Frequent (79-30%) HP:0004927
6 right bundle branch block 58 31 frequent (33%) Frequent (79-30%) HP:0011712
7 tricuspid regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0005180
8 exertional dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002875
9 first degree atrioventricular block 58 31 frequent (33%) Frequent (79-30%) HP:0011705
10 palpitations 58 31 frequent (33%) Frequent (79-30%) HP:0001962
11 right ventricular dilatation 58 31 frequent (33%) Frequent (79-30%) HP:0005133
12 abnormal p wave 58 31 frequent (33%) Frequent (79-30%) HP:0031595
13 prolonged pr interval 58 31 frequent (33%) Frequent (79-30%) HP:0012248
14 systolic heart murmur 58 31 frequent (33%) Frequent (79-30%) HP:0031664
15 abnormally loud pulmonic component of the second heart sound 58 31 frequent (33%) Frequent (79-30%) HP:0031687
16 third heart sound 58 31 frequent (33%) Frequent (79-30%) HP:0031658
17 fixed splitting of the second heart sound 58 31 frequent (33%) Frequent (79-30%) HP:0031662
18 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
19 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
20 hemoptysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002105
21 clubbing of toes 58 31 occasional (7.5%) Occasional (29-5%) HP:0100760
22 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
23 syncope 58 31 occasional (7.5%) Occasional (29-5%) HP:0001279
24 atrial fibrillation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005110
25 tachypnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002789
26 cyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000961
27 peripheral edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0012398
28 thromboembolism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001907
29 exercise intolerance 58 31 occasional (7.5%) Occasional (29-5%) HP:0003546
30 clubbing of fingers 58 31 occasional (7.5%) Occasional (29-5%) HP:0100759
31 atrial flutter 58 31 occasional (7.5%) Occasional (29-5%) HP:0004749
32 right-to-left shunt 58 31 occasional (7.5%) Occasional (29-5%) HP:0001694
33 right atrial enlargement 58 31 occasional (7.5%) Occasional (29-5%) HP:0030718
34 left atrial enlargement 58 31 occasional (7.5%) Occasional (29-5%) HP:0031295
35 decreased pulmonary function 58 31 occasional (7.5%) Occasional (29-5%) HP:0005952
36 airway obstruction 31 occasional (7.5%) HP:0006536
37 atrioventricular block 58 Occasional (29-5%)
38 dyspnea 58 Occasional (29-5%)
39 obstructive lung disease 58 Occasional (29-5%)

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
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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