ASD5
MCID: ATR023
MIFTS: 23

Atrial Septal Defect 5 (ASD5)

Categories: Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Atrial Septal Defect 5

MalaCards integrated aliases for Atrial Septal Defect 5:

Name: Atrial Septal Defect 5 58 12 76 30 13 6 74
Asd5 58 12 76
Atrial Heart Septal Defect 5 12 15
Septal Defect, Atrial, Type 5 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
two swedish families have been described


HPO:

33
atrial septal defect 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110110
OMIM 58 612794
MeSH 45 D006344
ICD10 34 Q21.1
MedGen 43 C2748552
UMLS 74 C2748552

Summaries for Atrial Septal Defect 5

UniProtKB/Swiss-Prot : 76 Atrial septal defect 5: 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.

MalaCards based summary : Atrial Septal Defect 5, also known as asd5, is related to atrial heart septal defect and granulosa cell tumor of the ovary. An important gene associated with Atrial Septal Defect 5 is ACTC1 (Actin Alpha Cardiac Muscle 1), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Cardiac Progenitor Differentiation. Affiliated tissues include heart, and related phenotype is atrial septal defect.

Disease Ontology : 12 An atrial heart septal defect type 5 that has material basis in heterozygous mutation in the ACTC1 gene on chromosome 15q14.

Description from OMIM: 612794

Related Diseases for Atrial Septal Defect 5

Diseases in the Atrial Septal Defect 3 family:

Atrial Septal Defect 1 Atrial Septal Defect 2
Atrial Septal Defect 4 Atrial Septal Defect 5
Atrial Septal Defect 6 Atrial Septal Defect 8
Atrial Septal Defect 9

Diseases related to Atrial Septal Defect 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 atrial heart septal defect 10.0
2 granulosa cell tumor of the ovary 9.8 ACTC1 INS
3 restrictive cardiomyopathy 9.6 ACTC1 LOC101928174
4 heart disease 9.6 ACTC1 INS
5 left ventricular noncompaction 9.6 ACTC1 LOC101928174

Graphical network of the top 20 diseases related to Atrial Septal Defect 5:



Diseases related to Atrial Septal Defect 5

Symptoms & Phenotypes for Atrial Septal Defect 5

Human phenotypes related to Atrial Septal Defect 5:

33
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 33 HP:0001631

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
atrial septal defect, secundum

Clinical features from OMIM:

612794

Drugs & Therapeutics for Atrial Septal Defect 5

Search Clinical Trials , NIH Clinical Center for Atrial Septal Defect 5

Genetic Tests for Atrial Septal Defect 5

Genetic tests related to Atrial Septal Defect 5:

# Genetic test Affiliating Genes
1 Atrial Septal Defect 5 30 ACTC1

Anatomical Context for Atrial Septal Defect 5

MalaCards organs/tissues related to Atrial Septal Defect 5:

42
Heart

Publications for Atrial Septal Defect 5

Articles related to Atrial Septal Defect 5:

# Title Authors Year
1
REPAIR OF ATRIAL SEPTAL DEFECT. 5. WHERE MRS. WALKER WAS NURSED, ST. HELIER HOSPITAL, CARSHALTON. ( 14105513 )
1964

Variations for Atrial Septal Defect 5

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

76
# Symbol AA change Variation ID SNP ID
1 ACTC1 p.Met125Val VAR_046502 rs121912677

ClinVar genetic disease variations for Atrial Septal Defect 5:

6 (show top 50) (show all 118)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTC1 NM_005159.4(ACTC1): c.793C> G (p.Gln265Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs727504323 GRCh37 Chromosome 15, 35084306: 35084306
2 ACTC1 NM_005159.4(ACTC1): c.793C> G (p.Gln265Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs727504323 GRCh38 Chromosome 15, 34792105: 34792105
3 ACTC1 NM_005159.4(ACTC1): c.165C> T (p.Tyr55=) single nucleotide variant Likely benign rs149432225 GRCh37 Chromosome 15, 35085735: 35085735
4 ACTC1 NM_005159.4(ACTC1): c.165C> T (p.Tyr55=) single nucleotide variant Likely benign rs149432225 GRCh38 Chromosome 15, 34793534: 34793534
5 ACTC1 NM_005159.4(ACTC1): c.886T> A (p.Tyr296Asn) single nucleotide variant Uncertain significance rs730880402 GRCh38 Chromosome 15, 34791218: 34791218
6 ACTC1 NM_005159.4(ACTC1): c.886T> A (p.Tyr296Asn) single nucleotide variant Uncertain significance rs730880402 GRCh37 Chromosome 15, 35083419: 35083419
7 ACTC1 NM_005159.4(ACTC1): c.563C> T (p.Thr188Ile) single nucleotide variant Uncertain significance rs730880394 GRCh38 Chromosome 15, 34792461: 34792461
8 ACTC1 NM_005159.4(ACTC1): c.563C> T (p.Thr188Ile) single nucleotide variant Uncertain significance rs730880394 GRCh37 Chromosome 15, 35084662: 35084662
9 ACTC1 NM_005159.4(ACTC1): c.529A> G (p.Ile177Val) single nucleotide variant Uncertain significance rs730880392 GRCh37 Chromosome 15, 35084696: 35084696
10 ACTC1 NM_005159.4(ACTC1): c.529A> G (p.Ile177Val) single nucleotide variant Uncertain significance rs730880392 GRCh38 Chromosome 15, 34792495: 34792495
11 ACTC1 NM_005159.4(ACTC1): c.500T> C (p.Ile167Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs730880409 GRCh38 Chromosome 15, 34792524: 34792524
12 ACTC1 NM_005159.4(ACTC1): c.500T> C (p.Ile167Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs730880409 GRCh37 Chromosome 15, 35084725: 35084725
13 ACTC1 NM_005159.4(ACTC1): c.56_57insCA (p.Lys20Argfs) insertion Uncertain significance rs730880387 GRCh38 Chromosome 15, 34794752: 34794753
14 ACTC1 NM_005159.4(ACTC1): c.56_57insCA (p.Lys20Argfs) insertion Uncertain significance rs730880387 GRCh37 Chromosome 15, 35086953: 35086954
15 ACTC1 NM_005159.4(ACTC1): c.188A> G (p.Lys63Arg) single nucleotide variant Uncertain significance rs794727502 GRCh37 Chromosome 15, 35085712: 35085712
16 ACTC1 NM_005159.4(ACTC1): c.188A> G (p.Lys63Arg) single nucleotide variant Uncertain significance rs794727502 GRCh38 Chromosome 15, 34793511: 34793511
17 ACTC1 NM_005159.4(ACTC1): c.333G> A (p.Pro111=) single nucleotide variant Likely benign rs774767260 GRCh38 Chromosome 15, 34793366: 34793366
18 ACTC1 NM_005159.4(ACTC1): c.333G> A (p.Pro111=) single nucleotide variant Likely benign rs774767260 GRCh37 Chromosome 15, 35085567: 35085567
19 ACTC1 NM_005159.4(ACTC1): c.941G> A (p.Arg314His) single nucleotide variant Likely pathogenic rs121912673 GRCh37 Chromosome 15, 35083364: 35083364
20 ACTC1 NM_005159.4(ACTC1): c.941G> A (p.Arg314His) single nucleotide variant Likely pathogenic rs121912673 GRCh38 Chromosome 15, 34791163: 34791163
21 ACTC1 NM_005159.4(ACTC1): c.268C> T (p.His90Tyr) single nucleotide variant Uncertain significance rs121912676 GRCh37 Chromosome 15, 35085632: 35085632
22 ACTC1 NM_005159.4(ACTC1): c.268C> T (p.His90Tyr) single nucleotide variant Uncertain significance rs121912676 GRCh38 Chromosome 15, 34793431: 34793431
23 ACTC1 NM_005159.4(ACTC1): c.373A> G (p.Met125Val) single nucleotide variant Pathogenic rs121912677 GRCh37 Chromosome 15, 35085527: 35085527
24 ACTC1 NM_005159.4(ACTC1): c.373A> G (p.Met125Val) single nucleotide variant Pathogenic rs121912677 GRCh38 Chromosome 15, 34793326: 34793326
25 ACTC1 NM_005159.4(ACTC1): c.214_230del17 (p.Pro72Hisfs) deletion Pathogenic rs387906585 GRCh37 Chromosome 15, 35085670: 35085686
26 ACTC1 NM_005159.4(ACTC1): c.214_230del17 (p.Pro72Hisfs) deletion Pathogenic rs387906585 GRCh38 Chromosome 15, 34793469: 34793485
27 ACTC1 NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922680 GRCh37 Chromosome 15, 35085599: 35085599
28 ACTC1 NM_005159.4(ACTC1): c.301G> A (p.Glu101Lys) single nucleotide variant Pathogenic/Likely pathogenic rs193922680 GRCh38 Chromosome 15, 34793398: 34793398
29 ACTC1 NM_005159.4(ACTC1): c.219C> T (p.Ile73=) single nucleotide variant Likely benign rs376566924 GRCh37 Chromosome 15, 35085681: 35085681
30 ACTC1 NM_005159.4(ACTC1): c.219C> T (p.Ile73=) single nucleotide variant Likely benign rs376566924 GRCh38 Chromosome 15, 34793480: 34793480
31 ACTC1 NM_005159.4(ACTC1): c.454+9G> A single nucleotide variant Benign rs148695567 GRCh37 Chromosome 15, 35085437: 35085437
32 ACTC1 NM_005159.4(ACTC1): c.454+9G> A single nucleotide variant Benign rs148695567 GRCh38 Chromosome 15, 34793236: 34793236
33 ACTC1 NM_005159.4(ACTC1): c.465G> A (p.Leu155=) single nucleotide variant Likely benign rs397517062 GRCh37 Chromosome 15, 35084760: 35084760
34 ACTC1 NM_005159.4(ACTC1): c.465G> A (p.Leu155=) single nucleotide variant Likely benign rs397517062 GRCh38 Chromosome 15, 34792559: 34792559
35 ACTC1 NM_005159.4(ACTC1): c.513C> T (p.Tyr171=) single nucleotide variant Benign/Likely benign rs145023222 GRCh37 Chromosome 15, 35084712: 35084712
36 ACTC1 NM_005159.4(ACTC1): c.513C> T (p.Tyr171=) single nucleotide variant Benign/Likely benign rs145023222 GRCh38 Chromosome 15, 34792511: 34792511
37 ACTC1 NM_005159.4(ACTC1): c.903A> G (p.Leu301=) single nucleotide variant Likely benign rs138347995 GRCh37 Chromosome 15, 35083402: 35083402
38 ACTC1 NM_005159.4(ACTC1): c.903A> G (p.Leu301=) single nucleotide variant Likely benign rs138347995 GRCh38 Chromosome 15, 34791201: 34791201
39 ACTC1 NM_005159.4(ACTC1): c.927T> C (p.Pro309=) single nucleotide variant Benign/Likely benign rs2307493 GRCh37 Chromosome 15, 35083378: 35083378
40 ACTC1 NM_005159.4(ACTC1): c.927T> C (p.Pro309=) single nucleotide variant Benign/Likely benign rs2307493 GRCh38 Chromosome 15, 34791177: 34791177
41 ACTC1 NM_005159.4(ACTC1): c.28C> A (p.Leu10Met) single nucleotide variant Uncertain significance rs397517057 GRCh37 Chromosome 15, 35086982: 35086982
42 ACTC1 NM_005159.4(ACTC1): c.28C> A (p.Leu10Met) single nucleotide variant Uncertain significance rs397517057 GRCh38 Chromosome 15, 34794781: 34794781
43 ACTC1 NM_005159.4(ACTC1): c.456C> T (p.Gly152=) single nucleotide variant Likely benign rs771310484 GRCh38 Chromosome 15, 34792568: 34792568
44 ACTC1 NM_005159.4(ACTC1): c.456C> T (p.Gly152=) single nucleotide variant Likely benign rs771310484 GRCh37 Chromosome 15, 35084769: 35084769
45 ACTC1 NM_005159.4(ACTC1): c.342C> T (p.Pro114=) single nucleotide variant Likely benign rs878854754 GRCh37 Chromosome 15, 35085558: 35085558
46 ACTC1 NM_005159.4(ACTC1): c.342C> T (p.Pro114=) single nucleotide variant Likely benign rs878854754 GRCh38 Chromosome 15, 34793357: 34793357
47 ACTC1 NM_005159.4(ACTC1): c.129G> A (p.Gln43=) single nucleotide variant Uncertain significance rs878854753 GRCh38 Chromosome 15, 34794680: 34794680
48 ACTC1 NM_005159.4(ACTC1): c.129G> A (p.Gln43=) single nucleotide variant Uncertain significance rs878854753 GRCh37 Chromosome 15, 35086881: 35086881
49 ACTC1 NM_005159.4(ACTC1): c.1053G> C (p.Leu351=) single nucleotide variant Conflicting interpretations of pathogenicity rs151321743 GRCh38 Chromosome 15, 34790493: 34790493
50 ACTC1 NM_005159.4(ACTC1): c.1053G> C (p.Leu351=) single nucleotide variant Conflicting interpretations of pathogenicity rs151321743 GRCh37 Chromosome 15, 35082694: 35082694

Expression for Atrial Septal Defect 5

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

Pathways for Atrial Septal Defect 5

Pathways related to Atrial Septal Defect 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.82 ACTC1 INS
2 10.35 ACTC1 INS

GO Terms for Atrial Septal Defect 5

Biological processes related to Atrial Septal Defect 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 8.62 ACTC1 INS

Sources for Atrial Septal Defect 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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