AVSD4
MCID: ATR067
MIFTS: 27

Atrioventricular Septal Defect 4 (AVSD4)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Atrioventricular Septal Defect 4

MalaCards integrated aliases for Atrioventricular Septal Defect 4:

Name: Atrioventricular Septal Defect 4 57 72 29 13 6 70
Avsd4 57 72
Septal Defect, Atrioventricular, Type 4 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
atrioventricular septal defect 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614430
OMIM Phenotypic Series 57 PS606215
MeSH 44 D004694
MedGen 41 C3280781
SNOMED-CT via HPO 68 253373002 263681008
UMLS 70 C3280781

Summaries for Atrioventricular Septal Defect 4

OMIM® : 57 The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006). AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992). For a discussion of genetic heterogeneity of atrioventricular septal defects, see AVSD1 (606215). (614430) (Updated 05-Apr-2021)

MalaCards based summary : Atrioventricular Septal Defect 4, also known as avsd4, is related to ventricular septal defect 1 and atrioventricular septal defect. An important gene associated with Atrioventricular Septal Defect 4 is GATA4 (GATA Binding Protein 4). Affiliated tissues include heart, and related phenotype is primum atrial septal defect.

UniProtKB/Swiss-Prot : 72 Atrioventricular septal defect 4: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.

Related Diseases for Atrioventricular Septal Defect 4

Diseases in the Atrioventricular Septal Defect family:

Atrioventricular Septal Defect 3 Atrioventricular Septal Defect 2
Atrioventricular Septal Defect 4 Atrioventricular Septal Defect 5
Intermediate Atrioventricular Septal Defect

Diseases related to Atrioventricular Septal Defect 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ventricular septal defect 1 11.0
2 atrioventricular septal defect 9.5 LOC110121280 GATA4

Symptoms & Phenotypes for Atrioventricular Septal Defect 4

Human phenotypes related to Atrioventricular Septal Defect 4:

31
# Description HPO Frequency HPO Source Accession
1 primum atrial septal defect 31 HP:0010445

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
cleft mitral valve
atrial septal defect, primum type
rastelli type a endocardial cushion defect (in some patients)

Clinical features from OMIM®:

614430 (Updated 05-Apr-2021)

Drugs & Therapeutics for Atrioventricular Septal Defect 4

Search Clinical Trials , NIH Clinical Center for Atrioventricular Septal Defect 4

Genetic Tests for Atrioventricular Septal Defect 4

Genetic tests related to Atrioventricular Septal Defect 4:

# Genetic test Affiliating Genes
1 Atrioventricular Septal Defect 4 29 GATA4

Anatomical Context for Atrioventricular Septal Defect 4

MalaCards organs/tissues related to Atrioventricular Septal Defect 4:

40
Heart

Publications for Atrioventricular Septal Defect 4

Articles related to Atrioventricular Septal Defect 4:

(show all 13)
# Title Authors PMID Year
1
GATA4 mutations in 486 Chinese patients with congenital heart disease. 6 57
18672102 2008
2
Spectrum of heart disease associated with murine and human GATA4 mutation. 6 57
17643447 2007
3
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. 6
25516202 2014
4
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. 6
25205790 2014
5
Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects. 6
23696316 2013
6
Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis. 6
23239632 2013
7
Human gene copy number spectra analysis in congenital heart malformations. 6
22318994 2012
8
Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion. 6
21834050 2011
9
Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. 6
21110066 2010
10
Atrioventricular septal defect: from fetus to adult. 57
17105897 2006
11
A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. 6
15235040 2004
12
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. 6
12845333 2003
13
Endocardial cushion defect: further studies of "isolated" versus "syndromic" occurrence. 57
1534968 1992

Variations for Atrioventricular Septal Defect 4

ClinVar genetic disease variations for Atrioventricular Septal Defect 4:

6 (show top 50) (show all 172)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATA4 and overlap with 5 gene(s) NC_000008.11:g.(?_11703278)_(11758495_?)del Deletion Pathogenic 539991 GRCh37: 8:11560787-11616004
GRCh38: 8:11703278-11758495
2 GATA4 NC_000008.11:g.(?_11703278)_(11759996_?)del Deletion Pathogenic 831284 GRCh37: 8:11560787-11617505
GRCh38:
3 GATA4 NM_001308093.3(GATA4):c.1078G>T (p.Glu360Ter) SNV Pathogenic 967905 GRCh37: 8:11614521-11614521
GRCh38: 8:11757012-11757012
4 GATA4 NM_002052.5(GATA4):c.617-2A>G SNV Likely pathogenic 472779 rs1405855570 GRCh37: 8:11606426-11606426
GRCh38: 8:11748917-11748917
5 GATA4 NM_002052.5(GATA4):c.1273G>A (p.Asp425Asn) SNV Conflicting interpretations of pathogenicity 9034 rs56208331 GRCh37: 8:11615928-11615928
GRCh38: 8:11758419-11758419
6 GATA4 NM_001308093.3(GATA4):c.825C>T (p.Cys275=) SNV Conflicting interpretations of pathogenicity 44336 rs55980825 GRCh37: 8:11607658-11607658
GRCh38: 8:11750149-11750149
7 GATA4 NM_002052.5(GATA4):c.392C>G (p.Ala131Gly) SNV Uncertain significance 429341 rs1013984246 GRCh37: 8:11566213-11566213
GRCh38: 8:11708704-11708704
8 GATA4 NM_002052.5(GATA4):c.487C>T (p.Pro163Ser) SNV Uncertain significance 30099 rs387906769 GRCh37: 8:11566308-11566308
GRCh38: 8:11708799-11708799
9 GATA4 NM_002052.5(GATA4):c.1133G>T (p.Ser378Ile) SNV Uncertain significance 239097 rs878854481 GRCh37: 8:11614579-11614579
GRCh38: 8:11757070-11757070
10 GATA4 NM_002052.5(GATA4):c.628G>A (p.Asp210Asn) SNV Uncertain significance 570759 rs377673676 GRCh37: 8:11606439-11606439
GRCh38: 8:11748930-11748930
11 GATA4 NM_002052.5(GATA4):c.349C>G (p.Leu117Val) SNV Uncertain significance 655547 rs1265057798 GRCh37: 8:11566170-11566170
GRCh38: 8:11708661-11708661
12 GATA4 NM_001308093.3(GATA4):c.1285A>C (p.Asn429His) SNV Uncertain significance 842052 GRCh37: 8:11615937-11615937
GRCh38: 8:11758428-11758428
13 GATA4 NM_001308093.3(GATA4):c.214G>T (p.Gly72Cys) SNV Uncertain significance 845651 GRCh37: 8:11566035-11566035
GRCh38: 8:11708526-11708526
14 GATA4 NM_001308093.3(GATA4):c.22G>T (p.Ala8Ser) SNV Uncertain significance 851716 GRCh37: 8:11565843-11565843
GRCh38: 8:11708334-11708334
15 GATA4 NM_001308093.3(GATA4):c.508G>C (p.Gly170Arg) SNV Uncertain significance 859757 GRCh37: 8:11566329-11566329
GRCh38: 8:11708820-11708820
16 GATA4 NM_001308093.3(GATA4):c.1151C>T (p.Thr384Met) SNV Uncertain significance 861034 GRCh37: 8:11615803-11615803
GRCh38: 8:11758294-11758294
17 GATA4 NM_001308093.3(GATA4):c.1206G>A (p.Ser402=) SNV Uncertain significance 862816 GRCh37: 8:11615858-11615858
GRCh38: 8:11758349-11758349
18 GATA4 NM_001308093.3(GATA4):c.330C>A (p.Phe110Leu) SNV Uncertain significance 864126 GRCh37: 8:11566151-11566151
GRCh38: 8:11708642-11708642
19 GATA4 NM_001308093.3(GATA4):c.31C>A (p.His11Asn) SNV Uncertain significance 934654 GRCh37: 8:11565852-11565852
GRCh38: 8:11708343-11708343
20 GATA4 NM_001308093.3(GATA4):c.48_71del (p.Tyr18_Ala25del) Deletion Uncertain significance 946748 GRCh37: 8:11565863-11565886
GRCh38: 8:11708354-11708377
21 GATA4 NM_002052.5(GATA4):c.34G>C (p.Gly12Arg) SNV Uncertain significance 644697 rs750597721 GRCh37: 8:11565855-11565855
GRCh38: 8:11708346-11708346
22 GATA4 NM_001308093.3(GATA4):c.302C>T (p.Pro101Leu) SNV Uncertain significance 1002028 GRCh37: 8:11566123-11566123
GRCh38: 8:11708614-11708614
23 GATA4 NM_001308093.3(GATA4):c.1036G>A (p.Gly346Ser) SNV Uncertain significance 975395 GRCh37: 8:11614479-11614479
GRCh38: 8:11756970-11756970
24 GATA4 NM_002052.5(GATA4):c.1000C>T (p.Pro334Ser) SNV Uncertain significance 568224 rs1188397343 GRCh37: 8:11614446-11614446
GRCh38: 8:11756937-11756937
25 GATA4 NM_002052.5(GATA4):c.1157T>C (p.Val386Ala) SNV Uncertain significance 640915 rs368991748 GRCh37: 8:11615812-11615812
GRCh38: 8:11758303-11758303
26 GATA4 NM_002052.5(GATA4):c.857C>T (p.Ala286Val) SNV Uncertain significance 651064 rs116430078 GRCh37: 8:11607693-11607693
GRCh38: 8:11750184-11750184
27 GATA4 NM_001308093.3(GATA4):c.592C>T (p.Pro198Ser) SNV Uncertain significance 835552 GRCh37: 8:11566413-11566413
GRCh38: 8:11708904-11708904
28 GATA4 NM_001308093.3(GATA4):c.454_455delinsTT (p.Ala152Phe) Indel Uncertain significance 842343 GRCh37: 8:11566275-11566276
GRCh38: 8:11708766-11708767
29 GATA4 NM_001308093.3(GATA4):c.1231T>C (p.Tyr411His) SNV Uncertain significance 860962 GRCh37: 8:11615883-11615883
GRCh38: 8:11758374-11758374
30 GATA4 NM_001308093.3(GATA4):c.761C>T (p.Pro254Leu) SNV Uncertain significance 862090 GRCh37: 8:11606569-11606569
GRCh38: 8:11749060-11749060
31 GATA4 NM_001308093.3(GATA4):c.260C>A (p.Pro87Gln) SNV Uncertain significance 937723 GRCh37: 8:11566081-11566081
GRCh38: 8:11708572-11708572
32 GATA4 NM_001308093.3(GATA4):c.149G>C (p.Gly50Ala) SNV Uncertain significance 950878 GRCh37: 8:11565970-11565970
GRCh38: 8:11708461-11708461
33 GATA4 NM_001308093.3(GATA4):c.1031C>T (p.Ala344Val) SNV Uncertain significance 952361 GRCh37: 8:11614474-11614474
GRCh38: 8:11756965-11756965
34 GATA4 NM_001308093.3(GATA4):c.599C>T (p.Ala200Val) SNV Uncertain significance 956585 GRCh37: 8:11566420-11566420
GRCh38: 8:11708911-11708911
35 GATA4 NM_001308093.3(GATA4):c.1205C>T (p.Ser402Leu) SNV Uncertain significance 965300 GRCh37: 8:11615857-11615857
GRCh38: 8:11758348-11758348
36 GATA4 NM_001308093.3(GATA4):c.43C>T (p.Pro15Ser) SNV Uncertain significance 1013870 GRCh37: 8:11565864-11565864
GRCh38: 8:11708355-11708355
37 GATA4 NM_001308093.3(GATA4):c.782G>A (p.Arg261Gln) SNV Uncertain significance 1017884 GRCh37: 8:11606590-11606590
GRCh38: 8:11749081-11749081
38 GATA4 NM_001308093.3(GATA4):c.278G>C (p.Gly93Ala) SNV Uncertain significance 1020635 GRCh37: 8:11566099-11566099
GRCh38: 8:11708590-11708590
39 GATA4 NM_001308093.3(GATA4):c.526GCC[7] (p.Ala177_Ala179dup) Microsatellite Uncertain significance 1020936 GRCh37: 8:11566346-11566347
GRCh38: 8:11708837-11708838
40 GATA4 NM_001308093.3(GATA4):c.125C>A (p.Pro42Gln) SNV Uncertain significance 1023172 GRCh37: 8:11565946-11565946
GRCh38: 8:11708437-11708437
41 GATA4 NM_001308093.3(GATA4):c.913-5T>G SNV Uncertain significance 1023963 GRCh37: 8:11612550-11612550
GRCh38: 8:11755041-11755041
42 GATA4 NM_001308093.3(GATA4):c.582C>T (p.Gly194=) SNV Uncertain significance 1024005 GRCh37: 8:11566403-11566403
GRCh38: 8:11708894-11708894
43 GATA4 NC_000008.10:g.(?_11560787)_(11617505_?)dup Duplication Uncertain significance 1024270 GRCh37: 8:11560787-11617505
GRCh38:
44 GATA4 NM_001308093.3(GATA4):c.525_533dup (p.Ala177_Ala179dup) Duplication Uncertain significance 1025037 GRCh37: 8:11566340-11566341
GRCh38: 8:11708831-11708832
45 GATA4 NM_001308093.3(GATA4):c.1181G>A (p.Gly394Glu) SNV Uncertain significance 1026256 GRCh37: 8:11615833-11615833
GRCh38: 8:11758324-11758324
46 GATA4 NM_001308093.3(GATA4):c.125C>G (p.Pro42Arg) SNV Uncertain significance 1026397 GRCh37: 8:11565946-11565946
GRCh38: 8:11708437-11708437
47 GATA4 NM_002052.5(GATA4):c.1078G>C (p.Glu360Gln) SNV Uncertain significance 472769 rs141808522 GRCh37: 8:11614524-11614524
GRCh38: 8:11757015-11757015
48 GATA4 NM_002052.5(GATA4):c.932G>A (p.Arg311Gln) SNV Uncertain significance 649247 rs1585698628 GRCh37: 8:11612577-11612577
GRCh38: 8:11755068-11755068
49 GATA4 NM_001308093.3(GATA4):c.1101G>A (p.Thr367=) SNV Uncertain significance 835148 GRCh37: 8:11614544-11614544
GRCh38: 8:11757035-11757035
50 GATA4 NM_001308093.3(GATA4):c.912+4C>T SNV Uncertain significance 835991 GRCh37: 8:11607749-11607749
GRCh38: 8:11750240-11750240

UniProtKB/Swiss-Prot genetic disease variations for Atrioventricular Septal Defect 4:

72
# Symbol AA change Variation ID SNP ID
1 GATA4 p.Pro163Ser VAR_067610 rs387906769
2 GATA4 p.Ala346Val VAR_067616 rs115372595

Expression for Atrioventricular Septal Defect 4

Search GEO for disease gene expression data for Atrioventricular Septal Defect 4.

Pathways for Atrioventricular Septal Defect 4

GO Terms for Atrioventricular Septal Defect 4

Sources for Atrioventricular Septal Defect 4

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....