ASD7
MCID: ATR063
MIFTS: 26

Atrial Septal Defect 7, with or Without Av Conduction Defects (ASD7) malady

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

Aliases & Classifications for Atrial Septal Defect 7, with or Without Av Conduction Defects

Aliases & Descriptions for Atrial Septal Defect 7, with or Without Av Conduction Defects:

Name: Atrial Septal Defect 7, with or Without Av Conduction Defects 54 12 24 13
Atrial Septal Defect 7, with or Without Atrioventricular Conduction Defects 66 29
Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects 54 69
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome 12 56
Asd with or Without Atrioventricular Conduction Defects 12 66
Atrial Septal Defect 7 with or Without Av Conduction Defects 66
Asd with Atrioventricular Conduction Defects 66
Atrial Heart Septal Defect 7 12
Asd7 66

Characteristics:

Orphanet epidemiological data:

56
atrial septal defect-atrioventricular conduction defects syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

HPO:

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


Classifications:



External Ids:

OMIM 54 108900
Disease Ontology 12 DOID:0110112
ICD10 33 Q21.1
Orphanet 56 ORPHA1479
ICD10 via Orphanet 34 Q21.1
MeSH 42 D006344

Summaries for Atrial Septal Defect 7, with or Without Av Conduction Defects

UniProtKB/Swiss-Prot : 66 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 Av Conduction Defects, also known as atrial septal defect 7, with or without atrioventricular conduction defects, is related to ventricular septal defect 3, and has symptoms including left ventricular hypertrophy, tetralogy of fallot and ventricular septal defect. An important gene associated with Atrial Septal Defect 7, with or Without Av Conduction Defects is NKX2-5 (NK2 Homeobox 5). Affiliated tissues include heart.

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

Description from OMIM: 108900

Related Diseases for Atrial Septal Defect 7, with or Without Av Conduction Defects

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

id Related Disease Score Top Affiliating Genes
1 ventricular septal defect 3 10.9

Symptoms & Phenotypes for Atrial Septal Defect 7, with or Without Av Conduction Defects

Symptoms by clinical synopsis from OMIM:

108900

Clinical features from OMIM:

108900

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

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 32 HP:0001712
2 tetralogy of fallot 32 HP:0001636
3 ventricular septal defect 32 HP:0001629
4 secundum atrial septal defect 32 HP:0001684
5 atrial fibrillation 32 HP:0005110
6 subaortic stenosis 32 HP:0001682
7 pulmonary artery atresia 32 HP:0004935
8 prolonged pr interval 32 HP:0012248

Drugs & Therapeutics for Atrial Septal Defect 7, with or Without Av Conduction Defects

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

Genetic Tests for Atrial Septal Defect 7, with or Without Av Conduction Defects

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

id Genetic test Affiliating Genes
1 Atrial Septal Defect 7 with or Without Atrioventricular Conduction Defects 29
2 Atrial Septal Defect 7, with or Without Av Conduction Defects 24 NKX2-5

Anatomical Context for Atrial Septal Defect 7, with or Without Av Conduction Defects

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

39
Heart

Publications for Atrial Septal Defect 7, with or Without Av Conduction Defects

Variations for Atrial Septal Defect 7, with or Without Av Conduction Defects

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

66 (show all 46)
id 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
10 NKX2-5 p.Ser45Pro VAR_038217
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
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 Av Conduction Defects:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 NKX2-5 NM_004387.3(NKX2-5): c.533C> T (p.Thr178Met) single nucleotide variant Pathogenic rs104893900 GRCh37 Chromosome 5, 172660014: 172660014
2 NKX2-5 NM_004387.3(NKX2-5): c.508C> T (p.Gln170Ter) single nucleotide variant Pathogenic rs104893901 GRCh37 Chromosome 5, 172660039: 172660039
3 NKX2-5 NM_004387.3(NKX2-5): c.592C> T (p.Gln198Ter) single nucleotide variant Pathogenic rs104893903 GRCh37 Chromosome 5, 172659955: 172659955
4 NKX2-5 NM_004387.3(NKX2-5): c.215_221delAGCTGGG (p.Glu72Alafs) deletion Pathogenic rs606231358 GRCh38 Chromosome 5, 173234863: 173234869
5 NKX2-5 NM_004387.3(NKX2-5): c.228_229delGC (p.Pro77Phefs) deletion Pathogenic rs606231359 GRCh38 Chromosome 5, 173234855: 173234856
6 NKX2-5 NM_004387.3(NKX2-5): c.896A> G (p.Asp299Gly) single nucleotide variant Pathogenic rs137852683 GRCh37 Chromosome 5, 172659651: 172659651
7 NKX2-5 NM_004387.3(NKX2-5): c.262delG (p.Ala88Profs) deletion Pathogenic rs606231360 GRCh38 Chromosome 5, 173234822: 173234822
8 NKX2-5 NM_004387.3(NKX2-5): c.568C> T (p.Arg190Cys) single nucleotide variant Pathogenic rs104893906 GRCh37 Chromosome 5, 172659979: 172659979
9 NKX2-5 NM_004387.3(NKX2-5): c.768T> A (p.Tyr256Ter) single nucleotide variant Pathogenic rs104893907 GRCh37 Chromosome 5, 172659779: 172659779
10 NKX2-5 NM_004387.3(NKX2-5): c.44A> T (p.Lys15Ile) single nucleotide variant Pathogenic rs387906773 GRCh37 Chromosome 5, 172662043: 172662043
11 NKX2-5 NM_004387.3(NKX2-5): c.380C> A (p.Ala127Glu) single nucleotide variant Pathogenic rs387906774 GRCh37 Chromosome 5, 172660167: 172660167
12 NKX2-5 NM_004387.3(NKX2-5): c.543G> C (p.Gln181His) single nucleotide variant Likely pathogenic rs72554028 GRCh37 Chromosome 5, 172660004: 172660004
13 NKX2-5 NM_004387.3(NKX2-5): c.461A> G (p.Glu154Gly) single nucleotide variant Pathogenic rs587782928 GRCh37 Chromosome 5, 172660086: 172660086
14 NKX2-5 NM_004387.3(NKX2-5): c.618delG (p.Leu207Cysfs) deletion Pathogenic rs587782929 GRCh38 Chromosome 5, 173232926: 173232926
15 NKX2-5 NM_004387.3(NKX2-5): c.721_728delTACGGCGT (p.Tyr241Glyfs) deletion Pathogenic rs587782930 GRCh38 Chromosome 5, 173232816: 173232823
16 NKX2-5 NM_004387.3(NKX2-5): c.-229_*465del deletion Pathogenic GRCh37 Chromosome 5, 172659107: 172662315
17 NKX2-5 NM_004387.3(NKX2-5): c.751delA (p.Asn251Thrfs) deletion Likely pathogenic rs879253754 GRCh37 Chromosome 5, 172659796: 172659796
18 NKX2-5 NM_004387.3(NKX2-5): c.768T> G (p.Tyr256Ter) single nucleotide variant Pathogenic rs104893907 GRCh38 Chromosome 5, 173232776: 173232776

Expression for Atrial Septal Defect 7, with or Without Av Conduction Defects

Search GEO for disease gene expression data for Atrial Septal Defect 7, with or Without Av Conduction Defects.

Pathways for Atrial Septal Defect 7, with or Without Av Conduction Defects

GO Terms for Atrial Septal Defect 7, with or Without Av Conduction Defects

Sources for Atrial Septal Defect 7, with or Without Av Conduction Defects

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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