MCID: ATR093
MIFTS: 13

Atrial Heart Septal Defect 7

Categories: Cardiovascular 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
Asd with or Without Atrioventricular Conduction Defects 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110112
ICD10 33 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. An important gene associated with Atrial Heart Septal Defect 7 is NKX2-5 (NK2 Homeobox 5). Affiliated tissues include heart, and related phenotypes are abnormal cardiac septum morphology and arrhythmia

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 11.6

Symptoms & Phenotypes for Atrial Heart Septal Defect 7

Human phenotypes related to Atrial Heart Septal Defect 7:

32
# Description HPO Frequency HPO Source Accession
1 abnormal cardiac septum morphology 32 hallmark (90%) HP:0001671
2 arrhythmia 32 hallmark (90%) HP:0011675
3 bundle branch block 32 hallmark (90%) HP:0011710

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:

41
Heart

Publications for Atrial Heart Septal Defect 7

Variations for Atrial Heart Septal Defect 7

ClinVar genetic disease variations for Atrial Heart Septal Defect 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NKX2-5 NM_004387.3(NKX2-5): c.543G> C (p.Gln181His) single nucleotide variant Pathogenic rs72554028 GRCh37 Chromosome 5, 172660004: 172660004
2 NKX2-5 NM_004387.3(NKX2-5): c.543G> C (p.Gln181His) single nucleotide variant Pathogenic rs72554028 GRCh38 Chromosome 5, 173233001: 173233001

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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