PAVC
MCID: PRT048
MIFTS: 36

Partial Atrioventricular Canal (PAVC)

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Partial Atrioventricular Canal

MalaCards integrated aliases for Partial Atrioventricular Canal:

Name: Partial Atrioventricular Canal 20
Partial Avsd 20 58
Partial Atrioventricular Septal Defects 20
Partial Atrioventricular Septal Defect 58
Partial Common Atrioventricular Canal 20
Partial Atrioventricular Canal Defect 58
Pavc 58

Characteristics:

Orphanet epidemiological data:

58
partial atrioventricular septal defect
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: All ages,Antenatal;

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


Summaries for Partial Atrioventricular Canal

MalaCards based summary : Partial Atrioventricular Canal, also known as partial avsd, is related to heart septal defect and tricuspid atresia. An important gene associated with Partial Atrioventricular Canal is CRELD1 (Cysteine Rich With EGF Like Domains 1), and among its related pathways/superpathways are Factors involved in megakaryocyte development and platelet production and Ectoderm Differentiation. Affiliated tissues include heart and atrioventricular node, and related phenotypes are partial atrioventricular canal defect and recurrent respiratory infections

Related Diseases for Partial Atrioventricular Canal

Diseases related to Partial Atrioventricular Canal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 heart septal defect 29.8 GATA6 GATA4 CRELD1
2 tricuspid atresia 29.7 GATA6 GATA4
3 atrial heart septal defect 29.6 GATA6 GATA4 CRELD1
4 interatrial communication 29.5 GATA6 GATA4
5 ventricular septal defect 29.4 NR2F2 GATA6 GATA4
6 patent ductus arteriosus 1 29.2 GATA6 GATA4 CRELD1
7 atrioventricular septal defect 29.0 NR2F2 GATA6 GATA4 CRELD1
8 partial atrioventricular septal defect with ventricular hypoplasia 11.4
9 partial atrioventricular septal defect without ventricular hypoplasia 11.4
10 down syndrome 10.5
11 mitral valve insufficiency 10.4
12 subvalvular aortic stenosis 10.3
13 chromosomal triplication 10.3
14 progressive familial heart block, type ia 10.2
15 progressive familial heart block, type ib 10.1
16 right bundle branch block 10.1
17 cor triatriatum 10.1
18 coarctation of aorta 10.1
19 ellis-van creveld syndrome 10.1
20 polydactyly 10.1
21 atrial septal defect 5 10.1
22 rheumatic heart disease 10.1
23 respiratory failure 10.1
24 ectodermal dysplasia 10.1
25 arteriosclerosis 10.1
26 tracheal stenosis 10.1
27 aortic valve insufficiency 10.1
28 congestive heart failure 10.1
29 polyhydramnios 10.1
30 syncope 10.1
31 noonan syndrome 1 10.0
32 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
33 cyanosis, transient neonatal 10.0
34 pulmonary hypertension 10.0
35 atrioventricular block 10.0
36 first-degree atrioventricular block 10.0
37 left ventricular noncompaction 10.0
38 left bundle branch hemiblock 10.0
39 mitral valve stenosis 10.0
40 tricuspid valve stenosis 10.0
41 tricuspid valve insufficiency 10.0
42 discrete subaortic stenosis 10.0
43 hemolytic anemia 10.0
44 cor triatriatum sinister 10.0
45 pseudo-turner syndrome 10.0
46 rare cardiomyopathy 10.0
47 double-orifice mitral valve 10.0
48 cleft mitral valve 10.0
49 total anomalous pulmonary venous return 1 9.9 GATA4 CRELD1
50 dextro-looped transposition of the great arteries 9.9 GATA4 CRELD1

Graphical network of the top 20 diseases related to Partial Atrioventricular Canal:



Diseases related to Partial Atrioventricular Canal

Symptoms & Phenotypes for Partial Atrioventricular Canal

Human phenotypes related to Partial Atrioventricular Canal:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 partial atrioventricular canal defect 58 31 obligate (100%) Obligate (100%) HP:0011577
2 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
3 mitral regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0001653
4 exertional dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002875
5 exercise-induced muscle fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0009020
6 heart murmur 58 31 frequent (33%) Frequent (79-30%) HP:0030148
7 palpitations 58 31 frequent (33%) Frequent (79-30%) HP:0001962
8 bicuspid aortic valve 58 31 occasional (7.5%) Occasional (29-5%) HP:0001647
9 coarctation of aorta 58 31 occasional (7.5%) Occasional (29-5%) HP:0001680
10 hypoplastic left heart 58 31 occasional (7.5%) Occasional (29-5%) HP:0004383
11 angina pectoris 58 31 occasional (7.5%) Occasional (29-5%) HP:0001681
12 transient ischemic attack 58 31 occasional (7.5%) Occasional (29-5%) HP:0002326
13 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
14 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
15 abnormal tricuspid valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001702
16 syncope 58 31 occasional (7.5%) Occasional (29-5%) HP:0001279
17 aortic valve stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001650
18 anomalous pulmonary venous return 58 31 occasional (7.5%) Occasional (29-5%) HP:0010772
19 bacterial endocarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006689
20 atrial flutter 58 31 occasional (7.5%) Occasional (29-5%) HP:0004749
21 common atrium 58 31 occasional (7.5%) Occasional (29-5%) HP:0011565
22 heterotaxy 58 31 occasional (7.5%) Occasional (29-5%) HP:0030853
23 double outlet right ventricle 58 31 occasional (7.5%) Occasional (29-5%) HP:0001719
24 coronary sinus enlargement 58 31 occasional (7.5%) Occasional (29-5%) HP:0031298
25 atrial arrhythmia 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Partial Atrioventricular Canal:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.26 CRELD1 GATA4 GATA6 NR2F2
2 embryo MP:0005380 8.92 CRELD1 GATA4 GATA6 NR2F2

Drugs & Therapeutics for Partial Atrioventricular Canal

Search Clinical Trials , NIH Clinical Center for Partial Atrioventricular Canal

Genetic Tests for Partial Atrioventricular Canal

Anatomical Context for Partial Atrioventricular Canal

MalaCards organs/tissues related to Partial Atrioventricular Canal:

40
Heart, Atrioventricular Node

Publications for Partial Atrioventricular Canal

Articles related to Partial Atrioventricular Canal:

(show top 50) (show all 124)
# Title Authors PMID Year
1
Early results of robotically assisted congenital cardiac surgery: analysis of 242 patients. 61
33232727 2020
2
Atretic right superior vena cava with left superior vena cava draining directly into left atrium with absent coronary sinus in an adult with partial atrioventricular canal defect and complete heart block. 61
32652729 2020
3
Case Report: A Rare Case of Right-Sided Papillary Fibroelastoma in a 1-Year-Old With Congenital Heart Disease. 61
33585585 2020
4
Non-visible scar surgery: Right axillary thoracotomy approach for partial atrioventricular canal repair. 61
31872984 2019
5
Partial Atrioventricular Canal Defect. 61
31116104 2019
6
A case of left sided valve defects in a patient with repaired partial atrioventricular canal. 61
30993506 2019
7
Repair of partial atrioventricular canal defect in adult patients: two-year follow-up outcomes of a retrospective study. 61
31186038 2019
8
Long-term outcomes following partial atrioventricular septal defect (AVSD) repair in Ireland. 61
29943216 2019
9
Long-term results after surgical repair of atrioventricular septal defect. 61
30590597 2019
10
Bradyarrhythmias in Repaired Atrioventricular Septal Defects: Single-Center Experience Based on 34 Years of Follow-Up of 522 Patients. 61
29948031 2018
11
Pulmonary Autograft Mitral Valve Replacement (Ross II): Long-Term Follow-Up of a US Center. 61
30322368 2018
12
Long-term outcomes in patients who underwent surgical correction for atrioventricular septal defect. 61
30297581 2018
13
Surgical repair of atrioventricular septal defects: incidence and mode of failure of the left atrioventricular valve. 61
29425297 2018
14
Annuloplasty band implantation in adults with partial atrioventricular septal defect: a propensity-matched study. 61
29069357 2018
15
Incidence and risk factors of post-operative arrhythmias and sudden cardiac death after atrioventricular septal defect (AVSD) correction: Up to 47years of follow-up. 61
29249442 2018
16
Repair of Double Orifice Left AV Valve (DOLAVV) with Endocardial Cushion Defect in Adult. 61
28977206 2017
17
Mid-term Outcomes of Common Congenital Heart Defects Corrected Through a Right Subaxillary Thoracotomy. 61
27876287 2017
18
Robotically Assisted Repair of Partial Atrioventricular Canal Defect. 61
27645398 2016
19
Repair of Partial Atrioventricular Septal Defect: Age and Outcomes. 61
27112649 2016
20
Minimally Invasive Repair of Partial Atrioventricular Canal Defect. 61
26277088 2016
21
Robot-Assisted Partial Atrioventricular Canal Defect Repair and Cryo-Maze Procedure. 61
26777933 2016
22
Mid-term outcome with pericardial patch augmentation for redo left atrioventricular valve repair in atrioventricular septal defect†. 61
25669648 2016
23
Disturbed Intracardiac Flow Organization After Atrioventricular Septal Defect Correction as Assessed With 4D Flow Magnetic Resonance Imaging and Quantitative Particle Tracing. 61
26222698 2015
24
Mirror Image Gerbode or Partial Atrioventricular Canal Defect? 61
26665107 2015
25
Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome. 61
30805457 2015
26
Double-chambered left ventricle and partial atrioventricular canal. 61
25354865 2015
27
Horseshoe lung with cor triatriatum and partial atrioventricular canal defect. 61
25548349 2015
28
Successful robot-assisted repair of congenital mitral valve regurgitation. 61
25193192 2014
29
Should repair of partial atrioventricular septal defect be delayed until later in childhood? 61
25017658 2014
30
[Potential role of CRELD1 gene in the pathogenesis of atrioventricular septal defect]. 61
24927998 2014
31
Utility of three-dimensional transthoracic echocardiography in diagnosis of intermediate atrioventricular septal defect: report of an adult case. 61
27277773 2014
32
Atrioventricular septal defects: natural history, echocardiographic, electrocardiographic, and radiographic findings in 26 cats. 61
24200832 2013
33
Management of zone of apposition in parachute left atrioventricular valve in atrioventricular septal defect. 61
23523190 2013
34
Can prenatal detection of Down syndrome be improved by enhancing obstetricians' skills of performing adequate foetal cardiac examination at the primary level? 61
23183725 2013
35
Atrioventricular canal defect in patients with RASopathies. 61
22781091 2013
36
Combination of left ventricular noncompaction and partial atrioventricular canal defect in a 21-year-old male: a case report. 61
23362371 2013
37
Adults with congenital heart disease undergoing first surgery: prevalence and outcomes at a tertiary hospital. 61
23515725 2012
38
The role of B-type natriuretic peptide in the evaluation of left atrioventricular valve regurgitation following surgical repair of partial atrioventricular canal. 61
22623236 2012
39
An uncommon course of the right superior vena cava in a patient with heterotaxy syndrome. 61
23804697 2012
40
16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn. 61
21572369 2011
41
Partial anomalous pulmonary venous connection and partial atrioventricular septal defect in an adult: Report of a case. 61
21922369 2011
42
Percutaneous atrial septal defect closure in a child with interrupted inferior vena cava: successful femoral venous approach. 61
21936042 2011
43
Papillary fibroelastoma arising from the interventricular crest associated with a partial atrioventricular canal defect. 61
21443735 2011
44
[Surgical treatment of partial atrioventricular canal in a 69 year-old woman with secondary pulmonary hypertension]. 61
21928207 2011
45
Ellis van creveld syndrome with synpolydactyly, an antenatal diagnosis with postnatal correlation. 61
22267994 2011
46
Minimally invasive partial inferior sternotomy for congenital heart defects in children. 61
21124291 2010
47
Novel CRELD1 gene mutations in patients with atrioventricular septal defect. 61
21080147 2010
48
More than 30 years' experience with surgical correction of atrioventricular septal defects. 61
20971263 2010
49
Primary biventricular repair of atrioventricular septal defects: an analysis of reoperations. 61
20732503 2010
50
Reoperations after repair of partial atrioventricular septal defect: a 45-year single-center experience. 61
20417744 2010

Variations for Partial Atrioventricular Canal

Expression for Partial Atrioventricular Canal

Search GEO for disease gene expression data for Partial Atrioventricular Canal.

Pathways for Partial Atrioventricular Canal

Pathways related to Partial Atrioventricular Canal according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.52 GATA6 GATA4
2 11.42 NR2F2 GATA6
3 10.78 GATA6 GATA4
4 10.64 GATA6 GATA4
5 10.29 GATA6 GATA4

GO Terms for Partial Atrioventricular Canal

Cellular components related to Partial Atrioventricular Canal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 8.8 NR2F2 GATA6 GATA4

Biological processes related to Partial Atrioventricular Canal according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.63 NR2F2 GATA6 GATA4
2 positive regulation of transcription, DNA-templated GO:0045893 9.54 NR2F2 GATA6 GATA4
3 in utero embryonic development GO:0001701 9.49 NR2F2 GATA6
4 blood coagulation GO:0007596 9.48 GATA6 GATA4
5 positive regulation of angiogenesis GO:0045766 9.43 GATA6 GATA4
6 male gonad development GO:0008584 9.4 GATA6 GATA4
7 cell fate commitment GO:0045165 9.32 GATA6 GATA4
8 cardiac muscle cell differentiation GO:0055007 9.26 GATA6 GATA4
9 endocardial cushion development GO:0003197 9.16 GATA4 CRELD1
10 intestinal epithelial cell differentiation GO:0060575 8.96 GATA6 GATA4
11 positive regulation of cardioblast differentiation GO:0051891 8.62 GATA6 GATA4

Molecular functions related to Partial Atrioventricular Canal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.43 NR2F2 GATA6 GATA4
2 zinc ion binding GO:0008270 9.33 NR2F2 GATA6 GATA4
3 transcription regulatory region sequence-specific DNA binding GO:0000976 9.32 GATA6 GATA4
4 DNA-binding transcription factor activity GO:0003700 9.13 NR2F2 GATA6 GATA4
5 sequence-specific DNA binding GO:0043565 8.8 NR2F2 GATA6 GATA4

Sources for Partial Atrioventricular Canal

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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