PAVC
MCID: PRT048
MIFTS: 33

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 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 lung, 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 34)
# Related Disease Score Top Affiliating Genes
1 atrioventricular septal defect 30.8 CRELD1 GATA4 GATA6
2 ventricular septal defect 29.9 GATA4 GATA6 NR2F2
3 atrial heart septal defect 29.5 CRELD1 GATA4 GATA6
4 heart disease 29.4 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 cor triatriatum sinister 9.9
16 pseudo-turner syndrome 9.9
17 double-orifice mitral valve 9.9
18 diaphragm disease 9.9 GATA4 NR2F2
19 pancreatic agenesis 9.9 GATA4 GATA6
20 donnai-barrow syndrome 9.9 GATA4 NR2F2
21 pulmonic stenosis 9.9 GATA4 NR2F2
22 tricuspid valve disease 9.9 CRELD1 GATA6
23 pulmonary valve stenosis 9.8 CRELD1 GATA4
24 patent foramen ovale 9.8 GATA4 GATA6
25 diaphragmatic hernia, congenital 9.8 GATA4 GATA6 NR2F2
26 familial atrial fibrillation 9.8 GATA4 GATA6
27 complete atrioventricular canal-tetralogy of fallot syndrome 9.7 CRELD1 GATA4 NR2F2
28 tetralogy of fallot 9.7 CRELD1 GATA4 GATA6
29 complete atrioventricular canal-left heart obstruction syndrome 9.7 CRELD1 GATA4 NR2F2
30 pulmonary valve disease 9.7 CRELD1 GATA4 GATA6
31 patent ductus arteriosus 1 9.7 CRELD1 GATA4 GATA6
32 heart septal defect 9.7 CRELD1 GATA4 GATA6
33 double outlet right ventricle 9.7 CRELD1 GATA4 GATA6
34 complete atrioventricular canal-ventricle hypoplasia syndrome 9.5 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
Lung, Heart, Atrioventricular Node

Publications for Partial Atrioventricular Canal

Articles related to Partial Atrioventricular Canal:

(show all 35)
# Title Authors Year
1
Repair of partial atrioventricular septal defects in infancy: a paradigm shift or a road block? ( 29472292 )
2018
2
Robot-Assisted Partial Atrioventricular Canal Defect Repair and Cryo-Maze Procedure. ( 26777933 )
2016
3
Robotically Assisted Repair of Partial Atrioventricular Canal Defect. ( 27645398 )
2016
4
Mirror Image Gerbode or Partial Atrioventricular Canal Defect? ( 26665107 )
2015
5
Horseshoe lung with cor triatriatum and partial atrioventricular canal defect. ( 25548349 )
2015
6
Double-chambered left ventricle and partial atrioventricular canal. ( 25354865 )
2014
7
Combination of left ventricular noncompaction and partial atrioventricular canal defect in a 21-year-old male: a case report. ( 23362371 )
2013
8
The role of B-type natriuretic peptide in the evaluation of left atrioventricular valve regurgitation following surgical repair of partial atrioventricular canal. ( 22623236 )
2012
9
Papillary fibroelastoma arising from the interventricular crest associated with a partial atrioventricular canal defect. ( 21443735 )
2011
10
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
11
Congenital defect of the partial atrioventricular canal with Klinefelter syndrome. ( 22190981 )
2009
12
Partial atrioventricular canal defect with inverted atrioventricular nodal input into an inferiorly displaced atrioventricular node. ( 17341403 )
2007
13
Partial atrioventricular canal: pitfalls in technique. ( 17433990 )
2007
14
Pulmonary venous stenosis as an associated manifestation of left-sided obstructive lesions in an infant with partial atrioventricular canal defect. ( 16374697 )
2005
15
Partial atrioventricular canal defect with cor triatriatum sinister: report of three cases. ( 14762371 )
2004
16
Partial atrioventricular canal defect in a dog. ( 11833818 )
2002
17
Complete versus partial atrioventricular canal: equal risks of repair in the modern era. ( 12368680 )
2002
18
Left atrioventricular valve repair technique in partial atrioventricular septal defects. ( 10585053 )
1999
19
Repair of Ebstein's anomaly associated with partial atrioventricular canal. ( 9690506 )
1997
20
Late results and reoperation after repair of complete and partial atrioventricular canal defect. ( 9109224 )
1997
21
Diagnosis and surgical repair of partial atrioventricular septal defects in two dogs. ( 9290821 )
1997
22
Partial atrioventricular canal with left-sided obstruction in patients with Noonan syndrome. ( 8662057 )
1996
23
Partial atrioventricular canal with congestive heart failure in the first year of life: surgical options. ( 8678634 )
1996
24
Partial atrioventricular canal defect: long-term follow-up after initial repair in patients > or = 40 years old. ( 7897133 )
1995
25
Late left atrioventricular valve insufficiency after repair of partial atrioventricular septal defects: anatomical and surgical determinants. ( 2297256 )
1990
26
Ebstein's anomaly and partial atrioventricular canal associated with double orifice mitral valve. ( 2808499 )
1989
27
Partial atrioventricular canal defect: the early and late results of operation. ( 3555369 )
1987
28
Partial atrioventricular canal in an adult: mitral valve repair by reverse implantation of a Carpentier ring. ( 3626607 )
1987
29
Prognostic factors and surgical treatment of partial atrioventricular canal. ( 3527472 )
1986
30
Partial atrioventricular canal associated with discrete subaortic stenosis. ( 4039103 )
1985
31
Partial atrioventricular canal defect in elderly patients (aged 60 years or older). ( 6211970 )
1982
32
Partial atrioventricular canal defect in adults. ( 7094239 )
1982
33
Partial atrioventricular canal in association with Ebstein's anomaly. Echocardiographic diagnosis and surgical correction. ( 7273904 )
1981
34
Total anomalous systemic venous connection, common atrium, and partial atrioventricular canal. A case report of successful surgical correction. ( 139506 )
1977
35
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:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.63 GATA4 GATA6 NR2F2
2 heart development GO:0007507 9.55 GATA4 GATA6
3 in utero embryonic development GO:0001701 9.54 GATA6 NR2F2
4 blood coagulation GO:0007596 9.52 GATA4 GATA6
5 positive regulation of angiogenesis GO:0045766 9.51 GATA4 GATA6
6 animal organ morphogenesis GO:0009887 9.49 GATA4 GATA6
7 male gonad development GO:0008584 9.48 GATA4 GATA6
8 cell development GO:0048468 9.43 GATA4 GATA6
9 positive regulation of BMP signaling pathway GO:0030513 9.4 GATA4 GATA6
10 cardiac muscle cell differentiation GO:0055007 9.37 GATA4 GATA6
11 anatomical structure formation involved in morphogenesis GO:0048646 9.32 GATA4 GATA6
12 tissue development GO:0009888 9.26 GATA4 GATA6
13 endocardial cushion development GO:0003197 9.16 CRELD1 GATA4
14 intestinal epithelial cell differentiation GO:0060575 8.96 GATA4 GATA6
15 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 8.62 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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