AVSD5
MCID: ATR071
MIFTS: 16

Atrioventricular Septal Defect 5 (AVSD5)

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

Aliases & Classifications for Atrioventricular Septal Defect 5

MalaCards integrated aliases for Atrioventricular Septal Defect 5:

Name: Atrioventricular Septal Defect 5 57 75 29 13 6 73
Avsd5 57 75
Septal Defect, Atrioventricular, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
atrioventricular septal defect 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614474
MedGen 42 C3280939
MeSH 44 D004694
UMLS 73 C3280939

Summaries for Atrioventricular Septal Defect 5

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). (614474)

MalaCards based summary : Atrioventricular Septal Defect 5, is also known as avsd5. An important gene associated with Atrioventricular Septal Defect 5 is GATA6 (GATA Binding Protein 6). Affiliated tissues include heart, and related phenotypes are atrioventricular canal defect and muscular ventricular septal defect

UniProtKB/Swiss-Prot : 75 Atrioventricular septal defect 5: 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 5

Symptoms & Phenotypes for Atrioventricular Septal Defect 5

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
hypoplastic left ventricle
atrioventricular septal defect, unbalanced
ventricular septal defect, muscular


Clinical features from OMIM:

614474

Human phenotypes related to Atrioventricular Septal Defect 5:

32
# Description HPO Frequency HPO Source Accession
1 atrioventricular canal defect 32 HP:0006695
2 muscular ventricular septal defect 32 HP:0011623

Drugs & Therapeutics for Atrioventricular Septal Defect 5

Search Clinical Trials , NIH Clinical Center for Atrioventricular Septal Defect 5

Genetic Tests for Atrioventricular Septal Defect 5

Genetic tests related to Atrioventricular Septal Defect 5:

# Genetic test Affiliating Genes
1 Atrioventricular Septal Defect 5 29 GATA6

Anatomical Context for Atrioventricular Septal Defect 5

MalaCards organs/tissues related to Atrioventricular Septal Defect 5:

41
Heart

Publications for Atrioventricular Septal Defect 5

Variations for Atrioventricular Septal Defect 5

UniProtKB/Swiss-Prot genetic disease variations for Atrioventricular Septal Defect 5:

75
# Symbol AA change Variation ID SNP ID
1 GATA6 p.Ala178Val VAR_067381 rs387906815

ClinVar genetic disease variations for Atrioventricular Septal Defect 5:

6 (show top 50) (show all 98)
# Gene Variation Type Significance SNP ID Assembly Location
1 GATA6 NM_005257.5(GATA6): c.592C> G (p.Leu198Val) single nucleotide variant Likely benign rs387906814 GRCh37 Chromosome 18, 19751697: 19751697
2 GATA6 NM_005257.5(GATA6): c.592C> G (p.Leu198Val) single nucleotide variant Likely benign rs387906814 GRCh38 Chromosome 18, 22171736: 22171736
3 GATA6 NM_005257.5(GATA6): c.533C> T (p.Ala178Val) single nucleotide variant Pathogenic rs387906815 GRCh37 Chromosome 18, 19751638: 19751638
4 GATA6 NM_005257.5(GATA6): c.533C> T (p.Ala178Val) single nucleotide variant Pathogenic rs387906815 GRCh38 Chromosome 18, 22171677: 22171677
5 GATA6 NM_005257.5(GATA6): c.43G> C (p.Gly15Arg) single nucleotide variant Benign rs116262672 GRCh37 Chromosome 18, 19751148: 19751148
6 GATA6 NM_005257.5(GATA6): c.43G> C (p.Gly15Arg) single nucleotide variant Benign rs116262672 GRCh38 Chromosome 18, 22171187: 22171187
7 GATA6 NM_005257.5(GATA6): c.851C> G (p.Ala284Gly) single nucleotide variant Benign/Likely benign rs185325359 GRCh37 Chromosome 18, 19751956: 19751956
8 GATA6 NM_005257.5(GATA6): c.851C> G (p.Ala284Gly) single nucleotide variant Benign/Likely benign rs185325359 GRCh38 Chromosome 18, 22171995: 22171995
9 GATA6 NM_005257.5(GATA6): c.1375G> A (p.Ala459Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs151176879 GRCh38 Chromosome 18, 22181525: 22181525
10 GATA6 NM_005257.5(GATA6): c.1375G> A (p.Ala459Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs151176879 GRCh37 Chromosome 18, 19761486: 19761486
11 GATA6 NM_005257.5(GATA6): c.222G> A (p.Pro74=) single nucleotide variant Benign rs374402554 GRCh37 Chromosome 18, 19751327: 19751327
12 GATA6 NM_005257.5(GATA6): c.222G> A (p.Pro74=) single nucleotide variant Benign rs374402554 GRCh38 Chromosome 18, 22171366: 22171366
13 GATA6 NM_005257.5(GATA6): c.993_998delCCACCA (p.His332_His333del) deletion Uncertain significance rs878854756 GRCh37 Chromosome 18, 19752098: 19752103
14 GATA6 NM_005257.5(GATA6): c.993_998delCCACCA (p.His332_His333del) deletion Uncertain significance rs878854756 GRCh38 Chromosome 18, 22172137: 22172142
15 GATA6 NM_005257.5(GATA6): c.1374C> T (p.Asn458=) single nucleotide variant Benign/Likely benign rs143026087 GRCh37 Chromosome 18, 19761485: 19761485
16 GATA6 NM_005257.5(GATA6): c.1374C> T (p.Asn458=) single nucleotide variant Benign/Likely benign rs143026087 GRCh38 Chromosome 18, 22181524: 22181524
17 GATA6 NM_005257.5(GATA6): c.1602A> G (p.Thr534=) single nucleotide variant Benign rs146949786 GRCh37 Chromosome 18, 19762986: 19762986
18 GATA6 NM_005257.5(GATA6): c.1602A> G (p.Thr534=) single nucleotide variant Benign rs146949786 GRCh38 Chromosome 18, 22183025: 22183025
19 GATA6 NM_005257.5(GATA6): c.1605A> G (p.Gln535=) single nucleotide variant Benign rs117646477 GRCh37 Chromosome 18, 19762989: 19762989
20 GATA6 NM_005257.5(GATA6): c.1605A> G (p.Gln535=) single nucleotide variant Benign rs117646477 GRCh38 Chromosome 18, 22183028: 22183028
21 GATA6 NM_005257.5(GATA6): c.750C> T (p.Gly250=) single nucleotide variant Likely benign rs1024528816 GRCh38 Chromosome 18, 22171894: 22171894
22 GATA6 NM_005257.5(GATA6): c.750C> T (p.Gly250=) single nucleotide variant Likely benign rs1024528816 GRCh37 Chromosome 18, 19751855: 19751855
23 GATA6 NM_005257.5(GATA6): c.998_1000delATC (p.His333del) deletion Likely benign rs1060503827 GRCh38 Chromosome 18, 22172142: 22172144
24 GATA6 NM_005257.5(GATA6): c.998_1000delATC (p.His333del) deletion Likely benign rs1060503827 GRCh37 Chromosome 18, 19752103: 19752105
25 GATA6 NM_005257.5(GATA6): c.183G> A (p.Gly61=) single nucleotide variant Likely benign rs377217497 GRCh38 Chromosome 18, 22171327: 22171327
26 GATA6 NM_005257.5(GATA6): c.183G> A (p.Gly61=) single nucleotide variant Likely benign rs377217497 GRCh37 Chromosome 18, 19751288: 19751288
27 GATA6 NM_005257.5(GATA6): c.237G> C (p.Leu79=) single nucleotide variant Likely benign rs772338637 GRCh38 Chromosome 18, 22171381: 22171381
28 GATA6 NM_005257.5(GATA6): c.237G> C (p.Leu79=) single nucleotide variant Likely benign rs772338637 GRCh37 Chromosome 18, 19751342: 19751342
29 GATA6 NM_005257.5(GATA6): c.271C> T (p.Pro91Ser) single nucleotide variant Uncertain significance rs766886560 GRCh38 Chromosome 18, 22171415: 22171415
30 GATA6 NM_005257.5(GATA6): c.271C> T (p.Pro91Ser) single nucleotide variant Uncertain significance rs766886560 GRCh37 Chromosome 18, 19751376: 19751376
31 GATA6 NM_005257.5(GATA6): c.1723G> C (p.Ala575Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs149569288 GRCh38 Chromosome 18, 22200758: 22200758
32 GATA6 NM_005257.5(GATA6): c.1723G> C (p.Ala575Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs149569288 GRCh37 Chromosome 18, 19780721: 19780721
33 GATA6 NM_005257.5(GATA6): c.900G> C (p.Leu300=) single nucleotide variant Likely benign rs1060503826 GRCh38 Chromosome 18, 22172044: 22172044
34 GATA6 NM_005257.5(GATA6): c.900G> C (p.Leu300=) single nucleotide variant Likely benign rs1060503826 GRCh37 Chromosome 18, 19752005: 19752005
35 GATA6 NM_005257.5(GATA6): c.1135+9C> G single nucleotide variant Benign rs76308670 GRCh38 Chromosome 18, 22172288: 22172288
36 GATA6 NM_005257.5(GATA6): c.1135+9C> G single nucleotide variant Benign rs76308670 GRCh37 Chromosome 18, 19752249: 19752249
37 GATA6 NM_005257.5(GATA6): c.1663C> G (p.Pro555Ala) single nucleotide variant Likely benign rs146243018 GRCh38 Chromosome 18, 22200698: 22200698
38 GATA6 NM_005257.5(GATA6): c.1663C> G (p.Pro555Ala) single nucleotide variant Likely benign rs146243018 GRCh37 Chromosome 18, 19780661: 19780661
39 GATA6 NM_005257.5(GATA6): c.996_998dupCCA (p.His333_Pro334insHis) duplication Likely benign rs562588574 GRCh37 Chromosome 18, 19752101: 19752103
40 GATA6 NM_005257.5(GATA6): c.996_998dupCCA (p.His333_Pro334insHis) duplication Likely benign rs562588574 GRCh38 Chromosome 18, 22172140: 22172142
41 GATA6 NM_005257.5(GATA6): c.627C> A (p.Gly209=) single nucleotide variant Likely benign rs1051642564 GRCh37 Chromosome 18, 19751732: 19751732
42 GATA6 NM_005257.5(GATA6): c.627C> A (p.Gly209=) single nucleotide variant Likely benign rs1051642564 GRCh38 Chromosome 18, 22171771: 22171771
43 GATA6 NM_005257.5(GATA6): c.855G> T (p.Ala285=) single nucleotide variant Likely benign rs1014349671 GRCh37 Chromosome 18, 19751960: 19751960
44 GATA6 NM_005257.5(GATA6): c.855G> T (p.Ala285=) single nucleotide variant Likely benign rs1014349671 GRCh38 Chromosome 18, 22171999: 22171999
45 GATA6 NM_005257.5(GATA6): c.1515T> G (p.Ser505=) single nucleotide variant Uncertain significance rs770405157 GRCh37 Chromosome 18, 19762804: 19762804
46 GATA6 NM_005257.5(GATA6): c.1515T> G (p.Ser505=) single nucleotide variant Uncertain significance rs770405157 GRCh38 Chromosome 18, 22182843: 22182843
47 GATA6 NM_005257.5(GATA6): c.826G> A (p.Ala276Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 19751931: 19751931
48 GATA6 NM_005257.5(GATA6): c.826G> A (p.Ala276Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 22171970: 22171970
49 GATA6 NM_005257.5(GATA6): c.1089G> T (p.Gln363His) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 19752194: 19752194
50 GATA6 NM_005257.5(GATA6): c.1089G> T (p.Gln363His) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 22172233: 22172233

Expression for Atrioventricular Septal Defect 5

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Pathways for Atrioventricular Septal Defect 5

GO Terms for Atrioventricular Septal Defect 5

Sources for Atrioventricular Septal Defect 5

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