AVSD5
MCID: ATR071
MIFTS: 24

Atrioventricular Septal Defect 5 (AVSD5)

Categories: Cardiovascular diseases, Fetal 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 72 29 13 6 70
Avsd5 57 72
Septal Defect, Atrioventricular, Type 5 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
atrioventricular septal defect 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614474
OMIM Phenotypic Series 57 PS606215
MeSH 44 D004694
MedGen 41 C3280939
SNOMED-CT via HPO 68 15459006 263681008 94706008
UMLS 70 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) (Updated 20-May-2021)

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 : 72 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

Human phenotypes related to Atrioventricular Septal Defect 5:

31
# Description HPO Frequency HPO Source Accession
1 atrioventricular canal defect 31 HP:0006695
2 muscular ventricular septal defect 31 HP:0011623

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
hypoplastic left ventricle
atrioventricular septal defect, unbalanced
ventricular septal defect, muscular

Clinical features from OMIM®:

614474 (Updated 20-May-2021)

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:

40
Heart

Publications for Atrioventricular Septal Defect 5

Articles related to Atrioventricular Septal Defect 5:

# Title Authors PMID Year
1
Identification of GATA6 sequence variants in patients with congenital heart defects. 57 6
20581743 2010
2
A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: evidence of haploinsufficiency due to nonsense-mediated mRNA decay. 6
24310933 2014
3
Atrioventricular septal defect: from fetus to adult. 57
17105897 2006
4
Endocardial cushion defect: further studies of "isolated" versus "syndromic" occurrence. 57
1534968 1992
5
[First trimester prenatal diagnosis of structural fetal anomalies with three dimensional ultrasound--possibilities and limitations]. 61
21434296 2010
6
Reverse subclavian flap repair of hypoplastic transverse aorta in infancy. 61
11383795 2001
7
[Fetal echocardiography. The results of a 3-year study]. 61
8285127 1993

Variations for Atrioventricular Septal Defect 5

ClinVar genetic disease variations for Atrioventricular Septal Defect 5:

6 (show top 50) (show all 130)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATA6 NM_005257.5(GATA6):c.1477C>T (p.Arg493Ter) SNV Pathogenic 653141 rs1598737976 GRCh37: 18:19762766-19762766
GRCh38: 18:22182805-22182805
2 GATA6 NC_000018.10:g.(?_22168362)_(22172289_?)del Deletion Pathogenic 833485 GRCh37: 18:19748323-19752250
GRCh38:
3 GATA6 NM_005257.6(GATA6):c.838G>T (p.Gly280Ter) SNV Pathogenic 862125 GRCh37: 18:19751943-19751943
GRCh38: 18:22171982-22171982
4 GATA6 NM_005257.6(GATA6):c.367A>G (p.Thr123Ala) SNV Uncertain significance 863328 GRCh37: 18:19751472-19751472
GRCh38: 18:22171511-22171511
5 GATA6 NM_005257.5(GATA6):c.557C>G (p.Pro186Arg) SNV Uncertain significance 646142 rs1385341551 GRCh37: 18:19751662-19751662
GRCh38: 18:22171701-22171701
6 GATA6 NM_005257.5(GATA6):c.766G>A (p.Ala256Thr) SNV Uncertain significance 472916 rs1555628783 GRCh37: 18:19751871-19751871
GRCh38: 18:22171910-22171910
7 GATA6 NM_005257.5(GATA6):c.1320T>A (p.Leu440=) SNV Uncertain significance 472910 rs146624465 GRCh37: 18:19761431-19761431
GRCh38: 18:22181470-22181470
8 GATA6 NM_005257.6(GATA6):c.481G>T (p.Ala161Ser) SNV Uncertain significance 1014669 GRCh37: 18:19751586-19751586
GRCh38: 18:22171625-22171625
9 GATA6 NM_005257.6(GATA6):c.94C>A (p.Pro32Thr) SNV Uncertain significance 1017315 GRCh37: 18:19751199-19751199
GRCh38: 18:22171238-22171238
10 GATA6 NM_005257.6(GATA6):c.155G>T (p.Arg52Leu) SNV Uncertain significance 1017801 GRCh37: 18:19751260-19751260
GRCh38: 18:22171299-22171299
11 GATA6 NM_005257.6(GATA6):c.1350_1358del (p.Thr451_Thr453del) Deletion Uncertain significance 1018135 GRCh37: 18:19761456-19761464
GRCh38: 18:22181495-22181503
12 GATA6 NM_005257.6(GATA6):c.1246C>T (p.Leu416Phe) SNV Uncertain significance 1021916 GRCh37: 18:19757026-19757026
GRCh38: 18:22177065-22177065
13 GATA6 NM_005257.6(GATA6):c.472G>A (p.Gly158Ser) SNV Uncertain significance 1022541 GRCh37: 18:19751577-19751577
GRCh38: 18:22171616-22171616
14 GATA6 NM_005257.6(GATA6):c.422C>G (p.Pro141Arg) SNV Uncertain significance 1023208 GRCh37: 18:19751527-19751527
GRCh38: 18:22171566-22171566
15 GATA6 NM_005257.6(GATA6):c.503G>A (p.Gly168Asp) SNV Uncertain significance 1024771 GRCh37: 18:19751608-19751608
GRCh38: 18:22171647-22171647
16 GATA6 NM_005257.6(GATA6):c.686C>T (p.Ser229Leu) SNV Uncertain significance 1025482 GRCh37: 18:19751791-19751791
GRCh38: 18:22171830-22171830
17 GATA6 NM_005257.6(GATA6):c.595C>T (p.Pro199Ser) SNV Uncertain significance 1040611 GRCh37: 18:19751700-19751700
GRCh38: 18:22171739-22171739
18 GATA6 NM_005257.6(GATA6):c.1301T>C (p.Val434Ala) SNV Uncertain significance 1040747 GRCh37: 18:19757081-19757081
GRCh38: 18:22177120-22177120
19 GATA6 NM_005257.6(GATA6):c.642C>G (p.Asn214Lys) SNV Uncertain significance 1040956 GRCh37: 18:19751747-19751747
GRCh38: 18:22171786-22171786
20 GATA6 NM_005257.6(GATA6):c.820G>T (p.Gly274Cys) SNV Uncertain significance 1042252 GRCh37: 18:19751925-19751925
GRCh38: 18:22171964-22171964
21 GATA6 NM_005257.6(GATA6):c.1051G>A (p.Ala351Thr) SNV Uncertain significance 1043077 GRCh37: 18:19752156-19752156
GRCh38: 18:22172195-22172195
22 GATA6 NC_000018.9:g.19749151A>T SNV Uncertain significance 1044423 GRCh37: 18:19749151-19749151
GRCh38: 18:22169190-22169190
23 GATA6 NM_005257.6(GATA6):c.180C>G (p.Cys60Trp) SNV Uncertain significance 1051348 GRCh37: 18:19751285-19751285
GRCh38: 18:22171324-22171324
24 GATA6 NM_005257.6(GATA6):c.862G>C (p.Gly288Arg) SNV Uncertain significance 1052143 GRCh37: 18:19751967-19751967
GRCh38: 18:22172006-22172006
25 GATA6 NM_005257.5(GATA6):c.172A>G (p.Ser58Gly) SNV Uncertain significance 549549 rs924843423 GRCh37: 18:19751277-19751277
GRCh38: 18:22171316-22171316
26 GATA6 NM_005257.6(GATA6):c.187C>T (p.Pro63Ser) SNV Uncertain significance 1061620 GRCh37: 18:19751292-19751292
GRCh38: 18:22171331-22171331
27 GATA6 NM_005257.5(GATA6):c.128_130CCT[2] (p.Ser45del) Microsatellite Uncertain significance 591214 rs1201519482 GRCh37: 18:19751232-19751234
GRCh38: 18:22171271-22171273
28 GATA6 NM_005257.6(GATA6):c.1336A>G (p.Asn446Asp) SNV Uncertain significance 1064407 GRCh37: 18:19761447-19761447
GRCh38: 18:22181486-22181486
29 GATA6 NM_005257.6(GATA6):c.57G>A (p.Ala19=) SNV Uncertain significance 835417 GRCh37: 18:19751162-19751162
GRCh38: 18:22171201-22171201
30 GATA6 NM_005257.6(GATA6):c.969_971CCA[7] (p.His331_His333del) Microsatellite Uncertain significance 835877 GRCh37: 18:19752073-19752081
GRCh38: 18:22172112-22172120
31 GATA6 NM_005257.6(GATA6):c.589A>C (p.Met197Leu) SNV Uncertain significance 849672 GRCh37: 18:19751694-19751694
GRCh38: 18:22171733-22171733
32 GATA6 NM_005257.6(GATA6):c.433G>A (p.Glu145Lys) SNV Uncertain significance 850914 GRCh37: 18:19751538-19751538
GRCh38: 18:22171577-22171577
33 GATA6 NM_005257.6(GATA6):c.1048C>G (p.Pro350Ala) SNV Uncertain significance 851717 GRCh37: 18:19752153-19752153
GRCh38: 18:22172192-22172192
34 GATA6 NM_005257.6(GATA6):c.809C>T (p.Pro270Leu) SNV Uncertain significance 853969 GRCh37: 18:19751914-19751914
GRCh38: 18:22171953-22171953
35 GATA6 NM_005257.6(GATA6):c.1297C>T (p.Arg433Cys) SNV Uncertain significance 854778 GRCh37: 18:19757077-19757077
GRCh38: 18:22177116-22177116
36 GATA6 NM_005257.6(GATA6):c.112C>A (p.Pro38Thr) SNV Uncertain significance 854806 GRCh37: 18:19751217-19751217
GRCh38: 18:22171256-22171256
37 GATA6 NM_005257.6(GATA6):c.706G>T (p.Gly236Cys) SNV Uncertain significance 857098 GRCh37: 18:19751811-19751811
GRCh38: 18:22171850-22171850
38 GATA6 NM_005257.6(GATA6):c.52G>C (p.Gly18Arg) SNV Uncertain significance 857437 GRCh37: 18:19751157-19751157
GRCh38: 18:22171196-22171196
39 GATA6 NM_005257.5(GATA6):c.1030C>T (p.Pro344Ser) SNV Uncertain significance 546565 rs1408429022 GRCh37: 18:19752135-19752135
GRCh38: 18:22172174-22172174
40 GATA6 NM_005257.5(GATA6):c.969_971CCA[6] (p.His330_His333del) Microsatellite Uncertain significance 655336 rs562588574 GRCh37: 18:19752073-19752084
GRCh38: 18:22172112-22172123
41 GATA6 NM_005257.5(GATA6):c.540_542GGC[4] (p.Ala183dup) Microsatellite Uncertain significance 656095 rs762101807 GRCh37: 18:19751642-19751643
GRCh38: 18:22171681-22171682
42 GATA6 NM_005257.5(GATA6):c.1031C>T (p.Pro344Leu) SNV Uncertain significance 657314 rs1598734418 GRCh37: 18:19752136-19752136
GRCh38: 18:22172175-22172175
43 GATA6 NM_005257.5(GATA6):c.1373A>G (p.Asn458Ser) SNV Uncertain significance 660546 rs765926114 GRCh37: 18:19761484-19761484
GRCh38: 18:22181523-22181523
44 GATA6 NM_005257.5(GATA6):c.1628C>G (p.Ala543Gly) SNV Uncertain significance 661255 rs761668180 GRCh37: 18:19780626-19780626
GRCh38: 18:22200663-22200663
45 GATA6 NM_005257.5(GATA6):c.1624G>A (p.Gly542Ser) SNV Uncertain significance 572437 rs1568011554 GRCh37: 18:19780622-19780622
GRCh38: 18:22200659-22200659
46 GATA6 NM_005257.6(GATA6):c.656C>A (p.Ala219Glu) SNV Uncertain significance 934482 GRCh37: 18:19751761-19751761
GRCh38: 18:22171800-22171800
47 GATA6 NM_005257.6(GATA6):c.89G>A (p.Arg30Gln) SNV Uncertain significance 939134 GRCh37: 18:19751194-19751194
GRCh38: 18:22171233-22171233
48 GATA6 NM_005257.6(GATA6):c.834G>T (p.Glu278Asp) SNV Uncertain significance 939262 GRCh37: 18:19751939-19751939
GRCh38: 18:22171978-22171978
49 GATA6 NM_005257.6(GATA6):c.208G>A (p.Ala70Thr) SNV Uncertain significance 940915 GRCh37: 18:19751313-19751313
GRCh38: 18:22171352-22171352
50 GATA6 NM_005257.6(GATA6):c.1757C>T (p.Pro586Leu) SNV Uncertain significance 949027 GRCh37: 18:19780755-19780755
GRCh38: 18:22200792-22200792

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

72
# Symbol AA change Variation ID SNP ID
1 GATA6 p.Ala178Val VAR_067381 rs387906815

Expression for Atrioventricular Septal Defect 5

Search GEO for disease gene expression data for Atrioventricular Septal Defect 5.

Pathways for Atrioventricular Septal Defect 5

GO Terms for Atrioventricular Septal Defect 5

Sources for Atrioventricular Septal Defect 5

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
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39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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