MCID: PRT048
MIFTS: 31

Partial Atrioventricular Canal

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Partial Atrioventricular Canal

MalaCards integrated aliases for Partial Atrioventricular Canal:

Name: Partial Atrioventricular Canal 54 60
Partial Atrioventricular Septal Defects 54
Partial Common Atrioventricular Canal 54
Partial Atrioventricular Canal Defect 60
Partial Avsd 54
Pavc 60

Characteristics:

Orphanet epidemiological data:

60
partial atrioventricular canal
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: All ages,Antenatal;

Classifications:



External Ids:

MESH via Orphanet 46 C536112
ICD10 via Orphanet 35 Q21.2
UMLS via Orphanet 75 C0344735
Orphanet 60 ORPHA1330

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 heart and atrioventricular node, 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 35)
# Related Disease Score Top Affiliating Genes
1 atrioventricular septal defect 30.1 CRELD1 GATA4 GATA6
2 ventricular septal defect 29.7 GATA4 GATA6 NR2F2
3 atrial heart septal defect 29.2 CRELD1 GATA4 GATA6
4 heart disease 29.0 CRELD1 GATA4 GATA6
5 cor triatriatum 10.1
6 pulmonary hypertension 10.0
7 rheumatic heart disease 10.0
8 cleft mitral valve 10.0
9 tricuspid atresia 10.0
10 complete atrioventricular canal 10.0
11 noonan syndrome 1 9.9
12 congestive heart failure 9.9
13 left ventricular noncompaction 9.9
14 discrete subaortic stenosis 9.9
15 rere-related disorders 9.9
16 cor triatriatum sinister 9.9
17 pseudo-turner syndrome 9.9
18 double-orifice mitral valve 9.9
19 diaphragm disease 9.9 GATA4 NR2F2
20 pancreatic agenesis 9.9 GATA4 GATA6
21 donnai-barrow syndrome 9.9 GATA4 NR2F2
22 pulmonic stenosis 9.8 GATA4 NR2F2
23 tricuspid valve disease 9.8 CRELD1 GATA6
24 pulmonary valve stenosis 9.7 CRELD1 GATA4
25 patent foramen ovale 9.7 GATA4 GATA6
26 diaphragmatic hernia, congenital 9.6 GATA4 GATA6 NR2F2
27 familial atrial fibrillation 9.6 GATA4 GATA6
28 complete atrioventricular canal-tetralogy of fallot syndrome 9.5 CRELD1 GATA4 NR2F2
29 tetralogy of fallot 9.5 CRELD1 GATA4 GATA6
30 complete atrioventricular canal-left heart obstruction syndrome 9.5 CRELD1 GATA4 NR2F2
31 pulmonary valve disease 9.5 CRELD1 GATA4 GATA6
32 patent ductus arteriosus 1 9.5 CRELD1 GATA4 GATA6
33 heart septal defect 9.5 CRELD1 GATA4 GATA6
34 double outlet right ventricle 9.5 CRELD1 GATA4 GATA6
35 complete atrioventricular canal-ventricle hypoplasia syndrome 9.2 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:

47
# 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:

42
Heart, Atrioventricular Node

Publications for Partial Atrioventricular Canal

Articles related to Partial Atrioventricular Canal:

(show all 37)
# Title Authors Year
1
A case of left sided valve defects in a patient with repaired partial atrioventricular canal. ( 30993506 )
2019
2
Repair of partial atrioventricular septal defects in infancy: a paradigm shift or a road block? ( 29472292 )
2018
3
Minimally Invasive Repair of Partial Atrioventricular Canal Defect. ( 26277088 )
2016
4
Robot-Assisted Partial Atrioventricular Canal Defect Repair and Cryo-Maze Procedure. ( 26777933 )
2016
5
Robotically Assisted Repair of Partial Atrioventricular Canal Defect. ( 27645398 )
2016
6
Horseshoe lung with cor triatriatum and partial atrioventricular canal defect. ( 25548349 )
2015
7
Double-chambered left ventricle and partial atrioventricular canal. ( 25354865 )
2015
8
Mirror Image Gerbode or Partial Atrioventricular Canal Defect? ( 26665107 )
2015
9
Combination of left ventricular noncompaction and partial atrioventricular canal defect in a 21-year-old male: a case report. ( 23362371 )
2013
10
The role of B-type natriuretic peptide in the evaluation of left atrioventricular valve regurgitation following surgical repair of partial atrioventricular canal. ( 22623236 )
2012
11
Papillary fibroelastoma arising from the interventricular crest associated with a partial atrioventricular canal defect. ( 21443735 )
2011
12
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
13
Congenital defect of the partial atrioventricular canal with Klinefelter syndrome. ( 22190981 )
2009
14
Partial atrioventricular canal defect with inverted atrioventricular nodal input into an inferiorly displaced atrioventricular node. ( 17341403 )
2007
15
Partial atrioventricular canal: pitfalls in technique. ( 17433990 )
2007
16
Pulmonary venous stenosis as an associated manifestation of left-sided obstructive lesions in an infant with partial atrioventricular canal defect. ( 16374697 )
2005
17
Partial atrioventricular canal defect with cor triatriatum sinister: report of three cases. ( 14762371 )
2004
18
Partial atrioventricular canal defect in a dog. ( 11833818 )
2002
19
Complete versus partial atrioventricular canal: equal risks of repair in the modern era. ( 12368680 )
2002
20
Left atrioventricular valve repair technique in partial atrioventricular septal defects. ( 10585053 )
1999
21
Late results and reoperation after repair of complete and partial atrioventricular canal defect. ( 9109224 )
1997
22
Repair of Ebstein's anomaly associated with partial atrioventricular canal. ( 9690506 )
1997
23
Diagnosis and surgical repair of partial atrioventricular septal defects in two dogs. ( 9290821 )
1997
24
Partial atrioventricular canal with left-sided obstruction in patients with Noonan syndrome. ( 8662057 )
1996
25
Partial atrioventricular canal with congestive heart failure in the first year of life: surgical options. ( 8678634 )
1996
26
Partial atrioventricular canal defect: long-term follow-up after initial repair in patients > or = 40 years old. ( 7897133 )
1995
27
Late left atrioventricular valve insufficiency after repair of partial atrioventricular septal defects: anatomical and surgical determinants. ( 2297256 )
1990
28
Ebstein's anomaly and partial atrioventricular canal associated with double orifice mitral valve. ( 2808499 )
1989
29
Partial atrioventricular canal defect: the early and late results of operation. ( 3555369 )
1987
30
Partial atrioventricular canal in an adult: mitral valve repair by reverse implantation of a Carpentier ring. ( 3626607 )
1987
31
Prognostic factors and surgical treatment of partial atrioventricular canal. ( 3527472 )
1986
32
Partial atrioventricular canal associated with discrete subaortic stenosis. ( 4039103 )
1985
33
Partial atrioventricular canal defect in elderly patients (aged 60 years or older). ( 6211970 )
1982
34
Partial atrioventricular canal defect in adults. ( 7094239 )
1982
35
Partial atrioventricular canal in association with Ebstein's anomaly. Echocardiographic diagnosis and surgical correction. ( 7273904 )
1981
36
Total anomalous systemic venous connection, common atrium, and partial atrioventricular canal. A case report of successful surgical correction. ( 139506 )
1977
37
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 11.52 GATA4 GATA6
2 11.42 GATA6 NR2F2
3 10.78 GATA4 GATA6
4 10.64 GATA4 GATA6
5 10.29 GATA4 GATA6

GO Terms for Partial Atrioventricular Canal

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.54 GATA4 GATA6 NR2F2
2 in utero embryonic development GO:0001701 9.48 GATA6 NR2F2
3 blood coagulation GO:0007596 9.46 GATA4 GATA6
4 positive regulation of angiogenesis GO:0045766 9.43 GATA4 GATA6
5 male gonad development GO:0008584 9.4 GATA4 GATA6
6 cardiac muscle cell differentiation GO:0055007 9.26 GATA4 GATA6
7 endocardial cushion development GO:0003197 9.16 CRELD1 GATA4
8 positive regulation of BMP signaling pathway GO:0030513 9.02 GATA4
9 intestinal epithelial cell differentiation GO:0060575 8.96 GATA4 GATA6
10 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 9.43 GATA4 GATA6 NR2F2
2 zinc ion binding GO:0008270 9.33 GATA4 GATA6 NR2F2
3 transcription regulatory region DNA binding GO:0044212 9.32 GATA4 GATA6
4 sequence-specific DNA binding GO:0043565 9.13 GATA4 GATA6 NR2F2
5 enhancer sequence-specific DNA binding GO:0001158 8.32 GATA4

Sources for Partial Atrioventricular Canal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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