MCID: PRT048
MIFTS: 32

Partial Atrioventricular Canal

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Partial Atrioventricular Canal

MalaCards integrated aliases for Partial Atrioventricular Canal:

Name: Partial Atrioventricular Canal 53 59
Partial Atrioventricular Septal Defects 53
Partial Common Atrioventricular Canal 53
Partial Atrioventricular Canal Defect 59
Partial Avsd 53
Pavc 59

Characteristics:

Orphanet epidemiological data:

59
partial atrioventricular canal
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: All ages,Antenatal;

Classifications:



External Ids:

Orphanet 59 ORPHA1330
UMLS via Orphanet 74 C0344735
ICD10 via Orphanet 34 Q21.2
MESH via Orphanet 45 C536112

Summaries for Partial Atrioventricular Canal

MalaCards based summary : Partial Atrioventricular Canal, also known as partial atrioventricular septal defects, is related to atrioventricular septal defect and ventricular septal defect. An important gene associated with Partial Atrioventricular Canal is GATA6 (GATA Binding Protein 6), and among its related pathways/superpathways are Factors involved in megakaryocyte development and platelet production and Ectoderm Differentiation. Affiliated tissues include atrioventricular node, lung and heart, and related phenotypes are cardiovascular system and embryo

Related Diseases for Partial Atrioventricular Canal

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 atrioventricular septal defect 29.5 CRELD1 GATA4 GATA6
2 ventricular septal defect 28.9 GATA4 GATA6 NR2F2
3 cor triatriatum 10.0
4 complete atrioventricular canal 9.9
5 tricuspid atresia 9.9
6 47, xxy 9.8
7 cor triatriatum sinister 9.8
8 pseudo-turner syndrome 9.8
9 double-orifice mitral valve 9.8
10 noonan syndrome 1 9.8
11 aging 9.8
12 congestive heart failure 9.8
13 left ventricular noncompaction 9.8
14 discrete subaortic stenosis 9.8
15 atrial septal defect 4 9.8 GATA4 GATA6
16 pancreatic agenesis 9.7 GATA4 GATA6
17 diaphragm disease 9.6 GATA4 NR2F2
18 tricuspid valve disease 9.5 CRELD1 GATA6
19 ebstein anomaly 9.4 CRELD1 GATA4
20 diaphragmatic hernia, congenital 9.2 GATA4 GATA6 NR2F2
21 familial atrial fibrillation 9.2 GATA4 GATA6
22 complete atrioventricular canal-tetralogy of fallot syndrome 9.0 CRELD1 GATA4 NR2F2
23 complete atrioventricular canal-left heart obstruction syndrome 9.0 CRELD1 GATA4 NR2F2
24 pulmonary valve disease 9.0 CRELD1 GATA4 GATA6
25 patent ductus arteriosus 1 9.0 CRELD1 GATA4 GATA6
26 heart septal defect 9.0 CRELD1 GATA4 GATA6
27 atrial heart septal defect 8.9 CRELD1 GATA4 GATA6
28 double outlet right ventricle 8.9 CRELD1 GATA4 GATA6
29 tetralogy of fallot 8.8 CRELD1 GATA4 GATA6
30 heart disease 8.5 CRELD1 GATA4 GATA6
31 complete atrioventricular canal-ventricle hypoplasia syndrome 8.4 CRELD1 GATA4 GATA6 NR2F2

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



Diseases related to Partial Atrioventricular Canal

Symptoms & Phenotypes for Partial Atrioventricular Canal

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:

41
Atrioventricular Node, Lung, Heart

Publications for Partial Atrioventricular Canal

Articles related to Partial Atrioventricular Canal:

(show all 31)
# Title Authors Year
1
Robot-Assisted Partial Atrioventricular Canal Defect Repair and Cryo-Maze Procedure. ( 26777933 )
2016
2
Robotically Assisted Repair of Partial Atrioventricular Canal Defect. ( 27645398 )
2016
3
Mirror Image Gerbode or Partial Atrioventricular Canal Defect? ( 26665107 )
2015
4
Horseshoe lung with cor triatriatum and partial atrioventricular canal defect. ( 25548349 )
2015
5
Double-chambered left ventricle and partial atrioventricular canal. ( 25354865 )
2014
6
Combination of left ventricular noncompaction and partial atrioventricular canal defect in a 21-year-old male: a case report. ( 23362371 )
2013
7
The role of B-type natriuretic peptide in the evaluation of left atrioventricular valve regurgitation following surgical repair of partial atrioventricular canal. ( 22623236 )
2012
8
Papillary fibroelastoma arising from the interventricular crest associated with a partial atrioventricular canal defect. ( 21443735 )
2011
9
Selective slow pathway ablation using transseptal approach in a patient with surgically corrected partial atrioventricular canal defect and atrioventricular nodal reentrant tachycardia of the common type. ( 20045865 )
2010
10
Congenital defect of the partial atrioventricular canal with Klinefelter syndrome. ( 22190981 )
2009
11
Partial atrioventricular canal defect with inverted atrioventricular nodal input into an inferiorly displaced atrioventricular node. ( 17341403 )
2007
12
Partial atrioventricular canal: pitfalls in technique. ( 17433990 )
2007
13
Pulmonary venous stenosis as an associated manifestation of left-sided obstructive lesions in an infant with partial atrioventricular canal defect. ( 16374697 )
2005
14
Partial atrioventricular canal defect with cor triatriatum sinister: report of three cases. ( 14762371 )
2004
15
Partial atrioventricular canal defect in a dog. ( 11833818 )
2002
16
Complete versus partial atrioventricular canal: equal risks of repair in the modern era. ( 12368680 )
2002
17
Repair of Ebstein's anomaly associated with partial atrioventricular canal. ( 9690506 )
1997
18
Late results and reoperation after repair of complete and partial atrioventricular canal defect. ( 9109224 )
1997
19
Partial atrioventricular canal with left-sided obstruction in patients with Noonan syndrome. ( 8662057 )
1996
20
Partial atrioventricular canal with congestive heart failure in the first year of life: surgical options. ( 8678634 )
1996
21
Partial atrioventricular canal defect: long-term follow-up after initial repair in patients > or = 40 years old. ( 7897133 )
1995
22
Ebstein's anomaly and partial atrioventricular canal associated with double orifice mitral valve. ( 2808499 )
1989
23
Partial atrioventricular canal defect: the early and late results of operation. ( 3555369 )
1987
24
Partial atrioventricular canal in an adult: mitral valve repair by reverse implantation of a Carpentier ring. ( 3626607 )
1987
25
Prognostic factors and surgical treatment of partial atrioventricular canal. ( 3527472 )
1986
26
Partial atrioventricular canal associated with discrete subaortic stenosis. ( 4039103 )
1985
27
Partial atrioventricular canal defect in elderly patients (aged 60 years or older). ( 6211970 )
1982
28
Partial atrioventricular canal defect in adults. ( 7094239 )
1982
29
Partial atrioventricular canal in association with Ebstein's anomaly. Echocardiographic diagnosis and surgical correction. ( 7273904 )
1981
30
Total anomalous systemic venous connection, common atrium, and partial atrioventricular canal. A case report of successful surgical correction. ( 139506 )
1977
31
Surgical treatment of partial atrioventricular canal. ( 4582919 )
1973

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 11.45 GATA4 GATA6
2 11.31 GATA6 NR2F2
3 10.64 GATA4 GATA6
4 10.29 GATA4 GATA6

GO Terms for Partial Atrioventricular Canal

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.67 GATA4 GATA6 NR2F2
2 in utero embryonic development GO:0001701 9.56 GATA6 NR2F2
3 blood coagulation GO:0007596 9.55 GATA4 GATA6
4 positive regulation of angiogenesis GO:0045766 9.54 GATA4 GATA6
5 animal organ morphogenesis GO:0009887 9.52 GATA4 GATA6
6 male gonad development GO:0008584 9.51 GATA4 GATA6
7 cell fate commitment GO:0045165 9.48 GATA4 GATA6
8 cell development GO:0048468 9.46 GATA4 GATA6
9 digestive tract development GO:0048565 9.43 GATA4 GATA6
10 positive regulation of BMP signaling pathway GO:0030513 9.4 GATA4 GATA6
11 cardiac muscle cell differentiation GO:0055007 9.37 GATA4 GATA6
12 tissue development GO:0009888 9.32 GATA4 GATA6
13 anatomical structure formation involved in morphogenesis GO:0048646 9.26 GATA4 GATA6
14 endocardial cushion development GO:0003197 9.16 CRELD1 GATA4
15 intestinal epithelial cell differentiation GO:0060575 8.96 GATA4 GATA6
16 positive regulation of cardioblast differentiation GO:0051891 8.62 GATA4 GATA6

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.5 GATA4 GATA6 NR2F2
2 zinc ion binding GO:0008270 9.33 GATA4 GATA6 NR2F2
3 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.26 GATA4 GATA6
4 sequence-specific DNA binding GO:0043565 9.13 GATA4 GATA6 NR2F2
5 RNA polymerase II transcription factor binding GO:0001085 8.62 GATA4 GATA6

Sources for Partial Atrioventricular Canal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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