MCID: ATR093
MIFTS: 23

Atrial Heart Septal Defect 7

Categories: Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Atrial Heart Septal Defect 7

MalaCards integrated aliases for Atrial Heart Septal Defect 7:

Name: Atrial Heart Septal Defect 7 12
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome 12 6
Atrial Septal Defect 7, with or Without Av Conduction Defects 12
Atrial Septal Defect with Atrioventricular Conduction Defects 6
Asd with or Without Atrioventricular Conduction Defects 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110112
ICD10 32 Q21.1

Summaries for Atrial Heart Septal Defect 7

Disease Ontology : 12 An atrial heart septal defect that has material basis in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.

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

Related Diseases for Atrial Heart Septal Defect 7

Diseases in the Atrial Heart Septal Defect family:

Atrial Heart Septal Defect 7

Diseases related to Atrial Heart Septal Defect 7 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 atrial septal defect 7 with or without atrioventricular conduction defects 31.8 NKX2-5 ATP6V0E1
2 heart septal defect 10.3
3 atrial heart septal defect 10.3

Symptoms & Phenotypes for Atrial Heart Septal Defect 7

Human phenotypes related to Atrial Heart Septal Defect 7:

31
# Description HPO Frequency HPO Source Accession
1 arrhythmia 31 hallmark (90%) HP:0011675
2 bundle branch block 31 hallmark (90%) HP:0011710
3 abnormal cardiac septum morphology 31 hallmark (90%) HP:0001671

Drugs & Therapeutics for Atrial Heart Septal Defect 7

Search Clinical Trials , NIH Clinical Center for Atrial Heart Septal Defect 7

Genetic Tests for Atrial Heart Septal Defect 7

Anatomical Context for Atrial Heart Septal Defect 7

MalaCards organs/tissues related to Atrial Heart Septal Defect 7:

40
Heart

Publications for Atrial Heart Septal Defect 7

Articles related to Atrial Heart Septal Defect 7:

# Title Authors PMID Year
1
A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? 6
16896344 2006
2
Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system. 6
15917268 2005
3
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. 6
15810002 2005
4
Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. 6
15342699 2004
5
NKX2.5 mutations in patients with congenital heart disease. 6
14607454 2003
6
Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD. 6
12414819 2002
7
Familial atrial septal defect and atrioventricular conduction disturbance associated with a point mutation in the cardiac homeobox gene CSX/NKX2-5 in a Japanese patient. 6
10943630 1999
8
The cardiac homeobox gene Csx/Nkx2.5 lies genetically upstream of multiple genes essential for heart development. 6
10021345 1999
9
Familial atrial septal defect with prolonged atrioventricular conduction. 6
1260978 1976
10
Familial atrial septal defect with atrioventricular conduction defects. 61
9561886 1998

Variations for Atrial Heart Septal Defect 7

ClinVar genetic disease variations for Atrial Heart Septal Defect 7:

6 (show top 50) (show all 119)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NKX2-5 NM_004387.3(NKX2-5):c.-229_*465del Deletion Pathogenic 239928 5:172659107-172662315 5:173232104-173235312
2 ATP6V0E1 GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1 copy number loss Pathogenic 692223 5:166420934-173324844
3 NKX2-5 NM_004387.4(NKX2-5):c.533C>T (p.Thr178Met) SNV Pathogenic 9004 rs104893900 5:172660014-172660014 5:173233011-173233011
4 NKX2-5 NM_004387.4(NKX2-5):c.508C>T (p.Gln170Ter) SNV Pathogenic 9005 rs104893901 5:172660039-172660039 5:173233036-173233036
5 NKX2-5 NM_004387.4(NKX2-5):c.592C>T (p.Gln198Ter) SNV Pathogenic 9006 rs104893903 5:172659955-172659955 5:173232952-173232952
6 NKX2-5 NM_004387.4(NKX2-5):c.215_221del (p.Glu72fs) Deletion Pathogenic 9012 rs606231358 5:172661866-172661872 5:173234863-173234869
7 NKX2-5 NM_004387.4(NKX2-5):c.224_225GC[2] (p.Pro77fs) Microsatellite Pathogenic 9013 rs606231359 5:172661858-172661859 5:173234855-173234856
8 NKX2-5 NM_004387.4(NKX2-5):c.896A>G (p.Asp299Gly) SNV Pathogenic 9014 rs137852683 5:172659651-172659651 5:173232648-173232648
9 NKX2-5 NM_004387.4(NKX2-5):c.262del (p.Ala88fs) Deletion Pathogenic 9015 rs606231360 5:172661825-172661825 5:173234822-173234822
10 NKX2-5 NM_004387.4(NKX2-5):c.568C>T (p.Arg190Cys) SNV Pathogenic 9016 rs104893906 5:172659979-172659979 5:173232976-173232976
11 NKX2-5 NM_004387.4(NKX2-5):c.768T>A (p.Tyr256Ter) SNV Pathogenic 9017 rs104893907 5:172659779-172659779 5:173232776-173232776
12 NKX2-5 NM_004387.4(NKX2-5):c.44A>T (p.Lys15Ile) SNV Pathogenic 30112 rs387906773 5:172662043-172662043 5:173235040-173235040
13 NKX2-5 NM_004387.4(NKX2-5):c.380C>A (p.Ala127Glu) SNV Pathogenic 30113 rs387906774 5:172660167-172660167 5:173233164-173233164
14 NKX2-5 NM_004387.4(NKX2-5):c.461A>G (p.Glu154Gly) SNV Pathogenic 156158 rs587782928 5:172660086-172660086 5:173233083-173233083
15 NKX2-5 NM_004387.4(NKX2-5):c.618del (p.Leu207fs) Deletion Pathogenic 156159 rs587782929 5:172659929-172659929 5:173232926-173232926
16 NKX2-5 NM_004387.4(NKX2-5):c.721_728del (p.Tyr241fs) Deletion Pathogenic 156160 rs587782930 5:172659819-172659826 5:173232816-173232823
17 NKX2-5 NC_000005.10:g.(?_173232273)_(173245300_?)del Deletion Pathogenic 831434 5:172659276-172672303
18 NKX2-5 NC_000005.10:g.(?_173232549)_(173245300_?)del Deletion Pathogenic 832452 5:172659552-172672303
19 NKX2-5 NM_004387.4(NKX2-5):c.768T>G (p.Tyr256Ter) SNV Pathogenic 254163 rs104893907 5:172659779-172659779 5:173232776-173232776
20 NKX2-5 NM_004387.4(NKX2-5):c.543G>C (p.Gln181His) SNV Pathogenic 36659 rs72554028 5:172660004-172660004 5:173233001-173233001
21 NKX2-5 NM_004387.4(NKX2-5):c.147_163delinsGCCTCCT (p.Ala50fs) Indel Pathogenic 570031 rs1561621507 5:172661924-172661940 5:173234921-173234937
22 NKX2-5 NM_004387.4(NKX2-5):c.375dup (p.Glu126fs) Duplication Pathogenic 583193 rs1561619801 5:172660171-172660172 5:173233168-173233169
23 NKX2-5 NM_004387.4(NKX2-5):c.0_334+1del Deletion Pathogenic 661150 rs1581111034 5:172661752-172662314 5:173234749-173235311
24 NKX2-5 NM_004387.4(NKX2-5):c.310A>T (p.Lys104Ter) SNV Pathogenic 853950 5:172661777-172661777 5:173234774-173234774
25 NKX2-5 NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter) SNV Pathogenic 523473 rs1554093433 5:172659836-172659836 5:173232833-173232833
26 NKX2-5 NM_004387.4(NKX2-5):c.486C>A (p.Tyr162Ter) SNV Pathogenic 848998 5:172660061-172660061 5:173233058-173233058
27 NKX2-5 NM_004387.4(NKX2-5):c.160_161insCTGGCCCG (p.Glu54fs) Insertion Pathogenic 945426 5:172661926-172661927 5:173234923-173234924
28 NKX2-5 NM_004387.4(NKX2-5):c.246dup (p.Ala83fs) Duplication Pathogenic 951038 5:172661840-172661841 5:173234837-173234838
29 NKX2-5 NM_004387.4(NKX2-5):c.668del (p.Leu223fs) Deletion Likely pathogenic 661306 rs1581108237 5:172659879-172659879 5:173232876-173232876
30 NKX2-5 NM_004387.4(NKX2-5):c.605_606del (p.Leu202fs) Deletion Likely pathogenic 536136 rs1554093461 5:172659941-172659942 5:173232938-173232939
31 NKX2-5 NM_004387.4(NKX2-5):c.752del (p.Asn251fs) Deletion Likely pathogenic 242906 rs879253754 5:172659795-172659795 5:173232792-173232792
32 NKX2-5 NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu) SNV Conflicting interpretations of pathogenicity 468249 rs201249977 5:172659604-172659604 5:173232601-173232601
33 NKX2-5 NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro) SNV Uncertain significance 468245 rs201442000 5:172662022-172662022 5:173235019-173235019
34 NKX2-5 NM_004387.4(NKX2-5):c.280C>T (p.Pro94Ser) SNV Uncertain significance 468242 rs1009994744 5:172661807-172661807 5:173234804-173234804
35 NKX2-5 NM_004387.4(NKX2-5):c.447G>C (p.Gln149His) SNV Uncertain significance 468244 rs1230869762 5:172660100-172660100 5:173233097-173233097
36 NKX2-5 NM_004387.4(NKX2-5):c.783del (p.Ala262fs) Deletion Uncertain significance 159257 rs587784067 5:172659764-172659764 5:173232761-173232761
37 NKX2-5 NM_004387.4(NKX2-5):c.430C>T (p.Leu144Phe) SNV Uncertain significance 536137 rs1431464297 5:172660117-172660117 5:173233114-173233114
38 NKX2-5 NM_004387.4(NKX2-5):c.655G>A (p.Ala219Thr) SNV Uncertain significance 536138 rs760305842 5:172659892-172659892 5:173232889-173232889
39 NKX2-5 NM_004387.4(NKX2-5):c.724G>C (p.Gly242Arg) SNV Uncertain significance 536132 rs867226708 5:172659823-172659823 5:173232820-173232820
40 NKX2-5 NM_004387.4(NKX2-5):c.206T>G (p.Leu69Arg) SNV Uncertain significance 536133 rs1032793565 5:172661881-172661881 5:173234878-173234878
41 NKX2-5 NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly) SNV Uncertain significance 392351 rs751564052 5:172659720-172659720 5:173232717-173232717
42 NKX2-5 NM_004387.4(NKX2-5):c.241A>G (p.Lys81Glu) SNV Uncertain significance 536134 rs904474688 5:172661846-172661846 5:173234843-173234843
43 NKX2-5 NM_004387.4(NKX2-5):c.377A>C (p.Glu126Ala) SNV Uncertain significance 536135 rs1320947604 5:172660170-172660170 5:173233167-173233167
44 NKX2-5 NM_004387.4(NKX2-5):c.89C>A (p.Ala30Asp) SNV Uncertain significance 662948 rs1425683417 5:172661998-172661998 5:173234995-173234995
45 NKX2-5 NM_004387.4(NKX2-5):c.952_953delinsGC (p.Leu318Ala) Indel Uncertain significance 665881 rs1581107775 5:172659594-172659595 5:173232591-173232592
46 NKX2-5 NM_004387.4(NKX2-5):c.323C>T (p.Ala108Val) SNV Uncertain significance 641049 rs1581111049 5:172661764-172661764 5:173234761-173234761
47 NKX2-5 NM_004387.4(NKX2-5):c.869A>G (p.Asn290Ser) SNV Uncertain significance 641629 rs936204422 5:172659678-172659678 5:173232675-173232675
48 NKX2-5 NM_004387.4(NKX2-5):c.287C>T (p.Ala96Val) SNV Uncertain significance 644289 rs760088847 5:172661800-172661800 5:173234797-173234797
49 NKX2-5 NM_004387.4(NKX2-5):c.395G>C (p.Arg132Pro) SNV Uncertain significance 519016 rs754394393 5:172660152-172660152 5:173233149-173233149
50 NKX2-5 NM_004387.4(NKX2-5):c.566G>A (p.Arg189Gln) SNV Uncertain significance 577954 rs786205824 5:172659981-172659981 5:173232978-173232978

Expression for Atrial Heart Septal Defect 7

Search GEO for disease gene expression data for Atrial Heart Septal Defect 7.

Pathways for Atrial Heart Septal Defect 7

GO Terms for Atrial Heart Septal Defect 7

Sources for Atrial Heart Septal Defect 7

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