AVSD4
MCID: ATR067
MIFTS: 18

Atrioventricular Septal Defect 4 (AVSD4)

Categories: Cardiovascular 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 58 76 30 13 6 74
Avsd4 58 76
Septal Defect, Atrioventricular, Type 4 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
atrioventricular septal defect 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614430
MeSH 45 D004694
MedGen 43 C3280781
SNOMED-CT via HPO 70 253373002 263681008
UMLS 74 C3280781

Summaries for Atrioventricular Septal Defect 4

OMIM : 58 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)

MalaCards based summary : Atrioventricular Septal Defect 4, also known as avsd4, is related to ventricular septal defect 1. 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 : 76 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

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 11.2

Symptoms & Phenotypes for Atrioventricular Septal Defect 4

Human phenotypes related to Atrioventricular Septal Defect 4:

33
# Description HPO Frequency HPO Source Accession
1 primum atrial septal defect 33 HP:0010445

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
cleft mitral valve
atrial septal defect, primum type
rastelli type a endocardial cushion defect (in some patients)

Clinical features from OMIM:

614430

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 30 GATA4

Anatomical Context for Atrioventricular Septal Defect 4

MalaCards organs/tissues related to Atrioventricular Septal Defect 4:

42
Heart

Publications for Atrioventricular Septal Defect 4

Articles related to Atrioventricular Septal Defect 4:

# Title Authors Year
1
Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. ( 21110066 )
2010
2
GATA4 mutations in 486 Chinese patients with congenital heart disease. ( 18672102 )
2008
3
Spectrum of heart disease associated with murine and human GATA4 mutation. ( 17643447 )
2007

Variations for Atrioventricular Septal Defect 4

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

76
# Symbol AA change Variation ID SNP ID
1 GATA4 p.Pro163Ser VAR_067610 rs387906769
2 GATA4 p.Ala346Val VAR_067616 rs115372595

ClinVar genetic disease variations for Atrioventricular Septal Defect 4:

6 (show top 50) (show all 164)
# Gene Variation Type Significance SNP ID Assembly Location
1 GATA4 NM_002052.4(GATA4): c.1273G> A (p.Asp425Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs56208331 GRCh37 Chromosome 8, 11615928: 11615928
2 GATA4 NM_002052.4(GATA4): c.1273G> A (p.Asp425Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs56208331 GRCh38 Chromosome 8, 11758419: 11758419
3 GATA4 NM_002052.4(GATA4): c.487C> T (p.Pro163Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs387906769 GRCh37 Chromosome 8, 11566308: 11566308
4 GATA4 NM_002052.4(GATA4): c.487C> T (p.Pro163Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs387906769 GRCh38 Chromosome 8, 11708799: 11708799
5 GATA4 NM_002052.4(GATA4): c.1037C> T (p.Ala346Val) single nucleotide variant Conflicting interpretations of pathogenicity rs115372595 GRCh37 Chromosome 8, 11614483: 11614483
6 GATA4 NM_002052.4(GATA4): c.1037C> T (p.Ala346Val) single nucleotide variant Conflicting interpretations of pathogenicity rs115372595 GRCh38 Chromosome 8, 11756974: 11756974
7 GATA4 NM_002052.4(GATA4): c.1220C> A (p.Pro407Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs115099192 GRCh37 Chromosome 8, 11615875: 11615875
8 GATA4 NM_002052.4(GATA4): c.1220C> A (p.Pro407Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs115099192 GRCh38 Chromosome 8, 11758366: 11758366
9 GATA4 NM_002052.4(GATA4): c.1056C> T (p.Asn352=) single nucleotide variant Benign rs3729855 GRCh37 Chromosome 8, 11614502: 11614502
10 GATA4 NM_002052.4(GATA4): c.1056C> T (p.Asn352=) single nucleotide variant Benign rs3729855 GRCh38 Chromosome 8, 11756993: 11756993
11 GATA4 NM_002052.4(GATA4): c.699G> A (p.Thr233=) single nucleotide variant Benign/Likely benign rs55788387 GRCh37 Chromosome 8, 11606510: 11606510
12 GATA4 NM_002052.4(GATA4): c.699G> A (p.Thr233=) single nucleotide variant Benign/Likely benign rs55788387 GRCh38 Chromosome 8, 11749001: 11749001
13 GATA4 NM_002052.4(GATA4): c.822C> T (p.Cys274=) single nucleotide variant Conflicting interpretations of pathogenicity rs55980825 GRCh37 Chromosome 8, 11607658: 11607658
14 GATA4 NM_002052.4(GATA4): c.822C> T (p.Cys274=) single nucleotide variant Conflicting interpretations of pathogenicity rs55980825 GRCh38 Chromosome 8, 11750149: 11750149
15 GATA4 NM_002052.4(GATA4): c.732C> T (p.Tyr244=) single nucleotide variant Benign/Likely benign rs146696080 GRCh38 Chromosome 8, 11749034: 11749034
16 GATA4 NM_002052.4(GATA4): c.732C> T (p.Tyr244=) single nucleotide variant Benign/Likely benign rs146696080 GRCh37 Chromosome 8, 11606543: 11606543
17 GATA4 NM_002052.4(GATA4): c.99G> T (p.Ala33=) single nucleotide variant Benign rs56166237 GRCh37 Chromosome 8, 11565920: 11565920
18 GATA4 NM_002052.4(GATA4): c.99G> T (p.Ala33=) single nucleotide variant Benign rs56166237 GRCh38 Chromosome 8, 11708411: 11708411
19 GATA4 NM_002052.4(GATA4): c.348C> T (p.Ser116=) single nucleotide variant Likely benign rs772532276 GRCh38 Chromosome 8, 11708660: 11708660
20 GATA4 NM_002052.4(GATA4): c.348C> T (p.Ser116=) single nucleotide variant Likely benign rs772532276 GRCh37 Chromosome 8, 11566169: 11566169
21 GATA4 NM_002052.4(GATA4): c.627C> T (p.Asp209=) single nucleotide variant Benign/Likely benign rs192122549 GRCh37 Chromosome 8, 11606438: 11606438
22 GATA4 NM_002052.4(GATA4): c.627C> T (p.Asp209=) single nucleotide variant Benign/Likely benign rs192122549 GRCh38 Chromosome 8, 11748929: 11748929
23 GATA4 NM_002052.4(GATA4): c.1023T> C (p.Pro341=) single nucleotide variant Benign rs56206007 GRCh38 Chromosome 8, 11756960: 11756960
24 GATA4 NM_002052.4(GATA4): c.1023T> C (p.Pro341=) single nucleotide variant Benign rs56206007 GRCh37 Chromosome 8, 11614469: 11614469
25 GATA4 NM_002052.4(GATA4): c.1113A> G (p.Ser371=) single nucleotide variant Benign rs112435835 GRCh38 Chromosome 8, 11757050: 11757050
26 GATA4 NM_002052.4(GATA4): c.1113A> G (p.Ser371=) single nucleotide variant Benign rs112435835 GRCh37 Chromosome 8, 11614559: 11614559
27 GATA4 NM_002052.4(GATA4): c.1133G> T (p.Ser378Ile) single nucleotide variant Uncertain significance rs878854481 GRCh37 Chromosome 8, 11614579: 11614579
28 GATA4 NM_002052.4(GATA4): c.1133G> T (p.Ser378Ile) single nucleotide variant Uncertain significance rs878854481 GRCh38 Chromosome 8, 11757070: 11757070
29 GATA4 NM_002052.4(GATA4): c.1221A> C (p.Pro407=) single nucleotide variant Benign/Likely benign rs7830178 GRCh38 Chromosome 8, 11758367: 11758367
30 GATA4 NM_002052.4(GATA4): c.1221A> C (p.Pro407=) single nucleotide variant Benign/Likely benign rs7830178 GRCh37 Chromosome 8, 11615876: 11615876
31 GATA4 NM_002052.4(GATA4): c.1232C> T (p.Ala411Val) single nucleotide variant Benign rs55633527 GRCh38 Chromosome 8, 11758378: 11758378
32 GATA4 NM_002052.4(GATA4): c.1232C> T (p.Ala411Val) single nucleotide variant Benign rs55633527 GRCh37 Chromosome 8, 11615887: 11615887
33 GATA4 NM_002052.4(GATA4): c.723C> T (p.Cys241=) single nucleotide variant Benign/Likely benign rs1062215 GRCh37 Chromosome 8, 11606534: 11606534
34 GATA4 NM_002052.4(GATA4): c.723C> T (p.Cys241=) single nucleotide variant Benign/Likely benign rs1062215 GRCh38 Chromosome 8, 11749025: 11749025
35 GATA4 NM_002052.4(GATA4): c.1138G> A (p.Val380Met) single nucleotide variant Benign rs114868912 GRCh37 Chromosome 8, 11614584: 11614584
36 GATA4 NM_002052.4(GATA4): c.1138G> A (p.Val380Met) single nucleotide variant Benign rs114868912 GRCh38 Chromosome 8, 11757075: 11757075
37 GATA4 NM_002052.4(GATA4): c.246C> A (p.Thr82=) single nucleotide variant Likely benign rs1037655842 GRCh37 Chromosome 8, 11566067: 11566067
38 GATA4 NM_002052.4(GATA4): c.246C> A (p.Thr82=) single nucleotide variant Likely benign rs1037655842 GRCh38 Chromosome 8, 11708558: 11708558
39 GATA4 NM_002052.4(GATA4): c.462C> T (p.Phe154=) single nucleotide variant Benign/Likely benign rs56348550 GRCh37 Chromosome 8, 11566283: 11566283
40 GATA4 NM_002052.4(GATA4): c.462C> T (p.Phe154=) single nucleotide variant Benign/Likely benign rs56348550 GRCh38 Chromosome 8, 11708774: 11708774
41 GATA4 NM_002052.4(GATA4): c.885C> T (p.Cys295=) single nucleotide variant Benign rs143109496 GRCh37 Chromosome 8, 11607721: 11607721
42 GATA4 NM_002052.4(GATA4): c.885C> T (p.Cys295=) single nucleotide variant Benign rs143109496 GRCh38 Chromosome 8, 11750212: 11750212
43 GATA4 NM_002052.4(GATA4): c.909+7G> T single nucleotide variant Likely benign rs759872773 GRCh37 Chromosome 8, 11607752: 11607752
44 GATA4 NM_002052.4(GATA4): c.909+7G> T single nucleotide variant Likely benign rs759872773 GRCh38 Chromosome 8, 11750243: 11750243
45 GATA4 NM_002052.4(GATA4): c.998-4C> G single nucleotide variant Benign rs199915980 GRCh37 Chromosome 8, 11614440: 11614440
46 GATA4 NM_002052.4(GATA4): c.998-4C> G single nucleotide variant Benign rs199915980 GRCh38 Chromosome 8, 11756931: 11756931
47 GATA4 NM_002052.4(GATA4): c.1097C> T (p.Thr366Met) single nucleotide variant Uncertain significance rs781198110 GRCh37 Chromosome 8, 11614543: 11614543
48 GATA4 NM_002052.4(GATA4): c.1097C> T (p.Thr366Met) single nucleotide variant Uncertain significance rs781198110 GRCh38 Chromosome 8, 11757034: 11757034
49 GATA4 NM_002052.4(GATA4): c.1251T> C (p.Ser417=) single nucleotide variant Likely benign rs1060503828 GRCh38 Chromosome 8, 11758397: 11758397
50 GATA4 NM_002052.4(GATA4): c.1251T> C (p.Ser417=) single nucleotide variant Likely benign rs1060503828 GRCh37 Chromosome 8, 11615906: 11615906

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

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