ASD7
MCID: ATR088
MIFTS: 25

Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects (ASD7)

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

Aliases & Classifications for Atrial Septal Defect 7 with or Without Atrioventricular...

MalaCards integrated aliases for Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects:

Name: Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects 57 29 6 73
Atrial Septal Defect 7, with or Without Av Conduction Defects 57 13
Asd with or Without Atrioventricular Conduction Defects 57 75
Asd7 57 75
Septal Defect, Atrial, Type 7 with or Without Atrioventricular Conduction Defects 40
Atrial Septal Defect 7, with or Without Atrioventricular Conduction Defects 75
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome 59
Atrial Septal Defect 7 with or Without Av Conduction Defects 75
Asd with Atrioventricular Conduction Defects 75

Characteristics:

Orphanet epidemiological data:

59
atrial septal defect-atrioventricular conduction defects syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
atrial septal defect 7 with or without atrioventricular conduction defects:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Atrial Septal Defect 7 with or Without Atrioventricular...

UniProtKB/Swiss-Prot : 75 Atrial septal defect 7, with or without atrioventricular conduction defects: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria, and atrioventricular conduction defects in some cases.

MalaCards based summary : Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects, also known as atrial septal defect 7, with or without av conduction defects, is related to atrial heart septal defect 7 and ventricular septal defect 3. An important gene associated with Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects is NKX2-5 (NK2 Homeobox 5). Affiliated tissues include heart, and related phenotypes are arrhythmia and bundle branch block

Description from OMIM: 108900

Related Diseases for Atrial Septal Defect 7 with or Without Atrioventricular...

Diseases related to Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 atrial heart septal defect 7 11.6
2 ventricular septal defect 3 11.1

Symptoms & Phenotypes for Atrial Septal Defect 7 with or Without Atrioventricular...

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
atrial fibrillation
atrial septal defect, secundum type
atrial septal defect, cribriform type (rare)
atrioventricular conduction defects (in most patients)
ventricular septal defect (in some patients)
more
Cardiovascular Vascular:
subvalvular aortic stenosis (rare)
pulmonary artery atresia (rare)
mitral valve, double orifice (rare)


Clinical features from OMIM:

108900

Human phenotypes related to Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011675
2 bundle branch block 59 32 hallmark (90%) Very frequent (99-80%) HP:0011710
3 left ventricular hypertrophy 32 occasional (7.5%) HP:0001712
4 tetralogy of fallot 32 occasional (7.5%) HP:0001636
5 ventricular septal defect 32 occasional (7.5%) HP:0001629
6 abnormality of the cardiac septa 59 Very frequent (99-80%)
7 secundum atrial septal defect 32 HP:0001684
8 atrial fibrillation 32 HP:0005110
9 pulmonary artery atresia 32 occasional (7.5%) HP:0004935
10 subvalvular aortic stenosis 32 occasional (7.5%) HP:0001682
11 prolonged pr interval 32 HP:0012248
12 abnormal cardiac septum morphology 32 hallmark (90%) HP:0001671

Drugs & Therapeutics for Atrial Septal Defect 7 with or Without Atrioventricular...

Search Clinical Trials , NIH Clinical Center for Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects

Genetic Tests for Atrial Septal Defect 7 with or Without Atrioventricular...

Genetic tests related to Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects:

# Genetic test Affiliating Genes
1 Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects 29 NKX2-5

Anatomical Context for Atrial Septal Defect 7 with or Without Atrioventricular...

MalaCards organs/tissues related to Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects:

41
Heart

Publications for Atrial Septal Defect 7 with or Without Atrioventricular...

Variations for Atrial Septal Defect 7 with or Without Atrioventricular...

UniProtKB/Swiss-Prot genetic disease variations for Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects:

75 (show all 46)
# Symbol AA change Variation ID SNP ID
1 NKX2-5 p.Thr178Met VAR_003752 rs104893900
2 NKX2-5 p.Asn188Lys VAR_010117
3 NKX2-5 p.Arg189Gly VAR_010118
4 NKX2-5 p.Tyr191Cys VAR_010119
5 NKX2-5 p.Leu7Pro VAR_038212
6 NKX2-5 p.Lys15Ile VAR_038213 rs387906773
7 NKX2-5 p.Asn19Ser VAR_038214
8 NKX2-5 p.Glu21Gln VAR_038215 rs104893904
9 NKX2-5 p.Gln22Pro VAR_038216 rs201442000
10 NKX2-5 p.Ser45Pro VAR_038217 rs779548360
11 NKX2-5 p.Phe51Leu VAR_038218 rs753937287
12 NKX2-5 p.Ala63Val VAR_038219 rs530270916
13 NKX2-5 p.Leu69Pro VAR_038220
14 NKX2-5 p.Pro77Leu VAR_038221
15 NKX2-5 p.Cys114Arg VAR_038222
16 NKX2-5 p.Cys114Ser VAR_038223
17 NKX2-5 p.Lys118Arg VAR_038224
18 NKX2-5 p.Lys124Arg VAR_038225
19 NKX2-5 p.Glu126Val VAR_038226
20 NKX2-5 p.Ala127Glu VAR_038227 rs387906774
21 NKX2-5 p.Pro133Ser VAR_038228
22 NKX2-5 p.Ala135Thr VAR_038229
23 NKX2-5 p.Arg142Cys VAR_038230
24 NKX2-5 p.Leu144Pro VAR_038231
25 NKX2-5 p.Lys183Glu VAR_038232 rs137852686
26 NKX2-5 p.Gln187His VAR_038233
27 NKX2-5 p.Arg190Cys VAR_038234 rs104893906
28 NKX2-5 p.Lys192Arg VAR_038235
29 NKX2-5 p.Lys192Thr VAR_038236
30 NKX2-5 p.Lys194Arg VAR_038237
31 NKX2-5 p.Val205Glu VAR_038238
32 NKX2-5 p.Arg216Cys VAR_038239 rs104893905
33 NKX2-5 p.Ala219Val VAR_038240 rs104893902
34 NKX2-5 p.Asp226Asn VAR_038241 rs760528062
35 NKX2-5 p.Tyr248His VAR_038242
36 NKX2-5 p.Pro275Thr VAR_038243 rs368366482
37 NKX2-5 p.Ser279Phe VAR_038244 rs122359987
38 NKX2-5 p.Ser279Pro VAR_038245
39 NKX2-5 p.Ala281Val VAR_038246
40 NKX2-5 p.Ala286Val VAR_038247
41 NKX2-5 p.Asn294His VAR_038248
42 NKX2-5 p.Asp299Gly VAR_038249 rs137852683
43 NKX2-5 p.Ser305Gly VAR_038250
44 NKX2-5 p.Gly320Ser VAR_038251
45 NKX2-5 p.Arg322Gln VAR_038252
46 NKX2-5 p.Ala323Thr VAR_038253

ClinVar genetic disease variations for Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects:

6 (show top 50) (show all 148)
# Gene Variation Type Significance SNP ID Assembly Location
1 NKX2-5 NM_004387.3(NKX2-5): c.237G> A (p.Pro79=) single nucleotide variant Likely benign rs72554029 GRCh37 Chromosome 5, 172661850: 172661850
2 NKX2-5 NM_004387.3(NKX2-5): c.237G> A (p.Pro79=) single nucleotide variant Likely benign rs72554029 GRCh38 Chromosome 5, 173234847: 173234847
3 NKX2-5 NM_004387.3(NKX2-5): c.237G> C (p.Pro79=) single nucleotide variant Benign/Likely benign rs72554029 GRCh37 Chromosome 5, 172661850: 172661850
4 NKX2-5 NM_004387.3(NKX2-5): c.237G> C (p.Pro79=) single nucleotide variant Benign/Likely benign rs72554029 GRCh38 Chromosome 5, 173234847: 173234847
5 NKX2-5 NM_004387.3(NKX2-5): c.543G> A (p.Gln181=) single nucleotide variant Benign/Likely benign rs72554028 GRCh37 Chromosome 5, 172660004: 172660004
6 NKX2-5 NM_004387.3(NKX2-5): c.543G> A (p.Gln181=) single nucleotide variant Benign/Likely benign rs72554028 GRCh38 Chromosome 5, 173233001: 173233001
7 NKX2-5 NM_004387.3(NKX2-5): c.543G> C (p.Gln181His) single nucleotide variant Pathogenic rs72554028 GRCh37 Chromosome 5, 172660004: 172660004
8 NKX2-5 NM_004387.3(NKX2-5): c.543G> C (p.Gln181His) single nucleotide variant Pathogenic rs72554028 GRCh38 Chromosome 5, 173233001: 173233001
9 NKX2-5 NM_004387.3(NKX2-5): c.768T> G (p.Tyr256Ter) single nucleotide variant Pathogenic rs104893907 GRCh38 Chromosome 5, 173232776: 173232776
10 NKX2-5 NM_004387.3(NKX2-5): c.768T> G (p.Tyr256Ter) single nucleotide variant Pathogenic rs104893907 GRCh37 Chromosome 5, 172659779: 172659779
11 NKX2-5 NM_004387.3(NKX2-5): c.594G> A (p.Gln198=) single nucleotide variant Benign rs7728764 GRCh37 Chromosome 5, 172659953: 172659953
12 NKX2-5 NM_004387.3(NKX2-5): c.594G> A (p.Gln198=) single nucleotide variant Benign rs7728764 GRCh38 Chromosome 5, 173232950: 173232950
13 NKX2-5 NM_004387.3(NKX2-5): c.827C> G (p.Ala276Gly) single nucleotide variant Uncertain significance rs751564052 GRCh37 Chromosome 5, 172659720: 172659720
14 NKX2-5 NM_004387.3(NKX2-5): c.827C> G (p.Ala276Gly) single nucleotide variant Uncertain significance rs751564052 GRCh38 Chromosome 5, 173232717: 173232717
15 NKX2-5 NM_004387.3(NKX2-5): c.839C> T (p.Pro280Leu) single nucleotide variant Uncertain significance rs761596254 GRCh37 Chromosome 5, 172659708: 172659708
16 NKX2-5 NM_004387.3(NKX2-5): c.839C> T (p.Pro280Leu) single nucleotide variant Uncertain significance rs761596254 GRCh38 Chromosome 5, 173232705: 173232705
17 NKX2-5 NM_004387.3(NKX2-5): c.280C> T (p.Pro94Ser) single nucleotide variant Uncertain significance rs1009994744 GRCh37 Chromosome 5, 172661807: 172661807
18 NKX2-5 NM_004387.3(NKX2-5): c.280C> T (p.Pro94Ser) single nucleotide variant Uncertain significance rs1009994744 GRCh38 Chromosome 5, 173234804: 173234804
19 NKX2-5 NM_004387.3(NKX2-5): c.65A> C (p.Gln22Pro) single nucleotide variant Uncertain significance rs201442000 GRCh37 Chromosome 5, 172662022: 172662022
20 NKX2-5 NM_004387.3(NKX2-5): c.65A> C (p.Gln22Pro) single nucleotide variant Uncertain significance rs201442000 GRCh38 Chromosome 5, 173235019: 173235019
21 NKX2-5 NM_004387.3(NKX2-5): c.889G> T (p.Val297Phe) single nucleotide variant Uncertain significance rs569535312 GRCh37 Chromosome 5, 172659658: 172659658
22 NKX2-5 NM_004387.3(NKX2-5): c.889G> T (p.Val297Phe) single nucleotide variant Uncertain significance rs569535312 GRCh38 Chromosome 5, 173232655: 173232655
23 NKX2-5 NM_004387.3(NKX2-5): c.300C> A (p.Pro100=) single nucleotide variant Benign rs767243751 GRCh37 Chromosome 5, 172661787: 172661787
24 NKX2-5 NM_004387.3(NKX2-5): c.300C> A (p.Pro100=) single nucleotide variant Benign rs767243751 GRCh38 Chromosome 5, 173234784: 173234784
25 NKX2-5 NM_004387.3(NKX2-5): c.241A> G (p.Lys81Glu) single nucleotide variant Uncertain significance rs904474688 GRCh37 Chromosome 5, 172661846: 172661846
26 NKX2-5 NM_004387.3(NKX2-5): c.241A> G (p.Lys81Glu) single nucleotide variant Uncertain significance rs904474688 GRCh38 Chromosome 5, 173234843: 173234843
27 NKX2-5 NM_004387.3(NKX2-5): c.309C> T (p.Ala103=) single nucleotide variant Benign rs759221178 GRCh38 Chromosome 5, 173234775: 173234775
28 NKX2-5 NM_004387.3(NKX2-5): c.309C> T (p.Ala103=) single nucleotide variant Benign rs759221178 GRCh37 Chromosome 5, 172661778: 172661778
29 NKX2-5 NM_004387.3(NKX2-5): c.147_163del17insGCCTCCT (p.Ala50Profs) indel Pathogenic GRCh38 Chromosome 5, 173234921: 173234937
30 NKX2-5 NM_004387.3(NKX2-5): c.147_163del17insGCCTCCT (p.Ala50Profs) indel Pathogenic GRCh37 Chromosome 5, 172661924: 172661940
31 NKX2-5 NM_004387.3(NKX2-5): c.82G> A (p.Ala28Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 172662005: 172662005
32 NKX2-5 NM_004387.3(NKX2-5): c.82G> A (p.Ala28Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 173235002: 173235002
33 NKX2-5 NM_004387.3(NKX2-5): c.298C> A (p.Pro100Thr) single nucleotide variant Uncertain significance rs550046293 GRCh37 Chromosome 5, 172661789: 172661789
34 NKX2-5 NM_004387.3(NKX2-5): c.298C> A (p.Pro100Thr) single nucleotide variant Uncertain significance rs550046293 GRCh38 Chromosome 5, 173234786: 173234786
35 NKX2-5 NM_004387.3(NKX2-5): c.566G> A (p.Arg189Gln) single nucleotide variant Uncertain significance rs786205824 GRCh38 Chromosome 5, 173232978: 173232978
36 NKX2-5 NM_004387.3(NKX2-5): c.566G> A (p.Arg189Gln) single nucleotide variant Uncertain significance rs786205824 GRCh37 Chromosome 5, 172659981: 172659981
37 NKX2-5 NC_000005.10: g.(?_173232549)_(173245300_?)dup duplication Uncertain significance GRCh37 Chromosome 5, 172659552: 172672303
38 NKX2-5 NC_000005.10: g.(?_173232549)_(173245300_?)dup duplication Uncertain significance GRCh38 Chromosome 5, 173232549: 173245300
39 NKX2-5 NM_004387.3(NKX2-5): c.206T> G (p.Leu69Arg) single nucleotide variant Uncertain significance rs1032793565 GRCh38 Chromosome 5, 173234878: 173234878
40 NKX2-5 NM_004387.3(NKX2-5): c.206T> G (p.Leu69Arg) single nucleotide variant Uncertain significance rs1032793565 GRCh37 Chromosome 5, 172661881: 172661881
41 NKX2-5 NM_004387.3(NKX2-5): c.430C> T (p.Leu144Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 172660117: 172660117
42 NKX2-5 NM_004387.3(NKX2-5): c.430C> T (p.Leu144Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 173233114: 173233114
43 NKX2-5 NM_004387.3(NKX2-5): c.334+9G> A single nucleotide variant Likely benign rs534308328 GRCh37 Chromosome 5, 172661744: 172661744
44 NKX2-5 NM_004387.3(NKX2-5): c.334+9G> A single nucleotide variant Likely benign rs534308328 GRCh38 Chromosome 5, 173234741: 173234741
45 NKX2-5 NM_004387.3(NKX2-5): c.377A> C (p.Glu126Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 173233167: 173233167
46 NKX2-5 NM_004387.3(NKX2-5): c.377A> C (p.Glu126Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 172660170: 172660170
47 NKX2-5 NM_004387.3(NKX2-5): c.605_606delTG (p.Leu202Argfs) deletion Likely pathogenic GRCh38 Chromosome 5, 173232938: 173232939
48 NKX2-5 NM_004387.3(NKX2-5): c.605_606delTG (p.Leu202Argfs) deletion Likely pathogenic GRCh37 Chromosome 5, 172659941: 172659942
49 NKX2-5 NM_004387.3(NKX2-5): c.724G> C (p.Gly242Arg) single nucleotide variant Uncertain significance rs867226708 GRCh37 Chromosome 5, 172659823: 172659823
50 NKX2-5 NM_004387.3(NKX2-5): c.724G> C (p.Gly242Arg) single nucleotide variant Uncertain significance rs867226708 GRCh38 Chromosome 5, 173232820: 173232820

Expression for Atrial Septal Defect 7 with or Without Atrioventricular...

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