ASD5
MCID: ATR023
MIFTS: 35

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 57 12 72 29 13 6 70
Asd5 57 12 72
Atrial Heart Septal Defect 5 12 15
Septal Defect, Atrial, Type 5 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
two swedish families have been described


HPO:

31
atrial septal defect 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110110
OMIM® 57 612794
OMIM Phenotypic Series 57 PS108800
MeSH 44 D006344
ICD10 32 Q21.1
MedGen 41 C2748552
UMLS 70 C2748552

Summaries for Atrial Septal Defect 5

UniProtKB/Swiss-Prot : 72 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 heart septal defect and atrial heart septal defect. An important gene associated with Atrial Septal Defect 5 is ACTC1 (Actin Alpha Cardiac Muscle 1), and among its related pathways/superpathways are Cardiac Progenitor Differentiation and HOP Signaling. 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.

More information from OMIM: 612794 PS108800

Related Diseases for Atrial Septal Defect 5

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:

31
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 31 HP:0001631

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
atrial septal defect, secundum

Clinical features from OMIM®:

612794 (Updated 05-Apr-2021)

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 29 ACTC1

Anatomical Context for Atrial Septal Defect 5

MalaCards organs/tissues related to Atrial Septal Defect 5:

40
Heart

Publications for Atrial Septal Defect 5

Articles related to Atrial Septal Defect 5:

(show all 29)
# Title Authors PMID Year
1
Alpha-cardiac actin mutations produce atrial septal defects. 6 57
17947298 2008
2
A cardiac α-actin (ACTC1) p. Gly247Asp mutation inhibits SRF-signaling in vitro in neonatal rat cardiomyocytes. 6
31434612 2019
3
Cardiac α-Actin (ACTC1) Gene Mutation Causes Atrial-Septal Defects Associated With Late-Onset Dilated Cardiomyopathy. 6
31430208 2019
4
Novel phenotype-genotype correlations of hypertrophic cardiomyopathy caused by mutation in α-actin and myosin-binding protein genes in three unrelated Chinese families. 6
30600190 2019
5
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 6
27532257 2017
6
Using baculovirus/insect cell expressed recombinant actin to study the molecular pathogenesis of HCM caused by actin mutation A331P. 6
24793351 2014
7
Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies. 6
24736382 2014
8
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 6
23283745 2013
9
Subdomain location of mutations in cardiac actin correlate with type of functional change. 6
22590617 2012
10
Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse. 6
21622575 2011
11
Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro. 6
19799913 2010
12
Mutations in sarcomere protein genes in left ventricular noncompaction. 6
18506004 2008
13
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 6
17611253 2007
14
Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy. 6
16611632 2006
15
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 6
10966831 2000
16
Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. 6
9563954 1998
17
[A Case of Successful Surgery for Adult Partial Atrioventricular Septal Defect]. 61
31292370 2019
18
Cardiac Emboli Documented by Intraoperative Transesophageal Echocardiogram During Administration of a Topical Hemostatic Agent Prior to Pedicle Subtraction Osteotomy. 61
27128259 2016
19
Clinical analysis on application of color Doppler echocardiographic in cortriatrium diagnosis. 61
26400533 2015
20
Endothelin receptor antagonists improve exercise tolerance and oxygen saturations in patients with Eisenmenger syndrome and congenital heart defects. 61
18941642 2008
21
Congenital heart disease in infants of diabetic mothers: echocardiographic study. 61
14648003 2004
22
Cardiac function and morphology studied by two-dimensional Doppler echocardiography in unsedated newborn pigs. 61
10081708 1999
23
[Congenital cardiovascular malformations and chromosome microdeletions in 22q11.2]. 61
9951451 1999
24
Indications and contraindications for heart transplantation in infancy. 61
8312327 1993
25
[Prenatal diagnosis of fetal cardiac disease with echocardiography. National Group for Fetal Echocardiography]. 61
1505274 1992
26
Pulsed Doppler assessment of left ventricular diastolic function in atrial septal defect. 61
15227451 1992
27
[Wolff-Parkinson-White syndrome and cardiopathies]. 61
6240236 1984
28
Comparison of effects of prostaglandin E1 and nitroprusside on pulmonary vascular resistance in children after open-heart surgery. 61
7198428 1981
29
REPAIR OF ATRIAL SEPTAL DEFECT. 5. WHERE MRS. WALKER WAS NURSED, ST. HELIER HOSPITAL, CARSHALTON. 61
14105513 1964

Variations for Atrial Septal Defect 5

ClinVar genetic disease variations for Atrial Septal Defect 5:

6 (show top 50) (show all 123)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.373A>G (p.Met125Val) SNV Pathogenic 18327 rs121912677 GRCh37: 15:35085527-35085527
GRCh38: 15:34793326-34793326
2 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp) SNV Pathogenic 626827 rs1566967399 GRCh37: 15:35084359-35084359
GRCh38: 15:34792158-34792158
3 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) SNV Pathogenic 18331 rs193922680 GRCh37: 15:35085599-35085599
GRCh38: 15:34793398-34793398
4 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn) SNV Pathogenic 177917 rs727504399 GRCh37: 15:35086934-35086934
GRCh38: 15:34794733-34794733
5 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro) SNV Pathogenic 18329 rs267606629 GRCh37: 15:35082750-35082750
GRCh38: 15:34790549-34790549
6 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.215_231del (p.Pro72fs) Deletion Pathogenic 18328 rs387906585 GRCh37: 15:35085669-35085685
GRCh38: 15:34793468-34793484
7 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.382A>G (p.Thr128Ala) SNV Likely pathogenic 1031511 GRCh37: 15:35085518-35085518
GRCh38: 15:34793317-34793317
8 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.941G>A (p.Arg314His) SNV Likely pathogenic 18323 rs121912673 GRCh37: 15:35083364-35083364
GRCh38: 15:34791163-34791163
9 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.973A>G (p.Ser325Gly) SNV Uncertain significance 538809 rs1555418679 GRCh37: 15:35083332-35083332
GRCh38: 15:34791131-34791131
10 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.454G>A (p.Gly152Ser) SNV Uncertain significance 538811 rs1247069535 GRCh37: 15:35085446-35085446
GRCh38: 15:34793245-34793245
11 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.507G>A (p.Glu169=) SNV Uncertain significance 538812 rs1555418837 GRCh37: 15:35084718-35084718
GRCh38: 15:34792517-34792517
12 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.501C>G (p.Ile167Met) SNV Uncertain significance 471457 rs1306504752 GRCh37: 15:35084724-35084724
GRCh38: 15:34792523-34792523
13 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.886T>A (p.Tyr296Asn) SNV Uncertain significance 180768 rs730880402 GRCh37: 15:35083419-35083419
GRCh38: 15:34791218-34791218
14 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.134T>C (p.Val45Ala) SNV Uncertain significance 471455 rs1555418924 GRCh37: 15:35085766-35085766
GRCh38: 15:34793565-34793565
15 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.562A>G (p.Thr188Ala) SNV Uncertain significance 478617 rs1555418824 GRCh37: 15:35084663-35084663
GRCh38: 15:34792462-34792462
16 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) SNV Uncertain significance 50936 rs397517057 GRCh37: 15:35086982-35086982
GRCh38: 15:34794781-34794781
17 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.529A>G (p.Ile177Val) SNV Uncertain significance 180757 rs730880392 GRCh37: 15:35084696-35084696
GRCh38: 15:34792495-34792495
18 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.178G>A (p.Ala60Thr) SNV Uncertain significance 538805 rs1555418912 GRCh37: 15:35085722-35085722
GRCh38: 15:34793521-34793521
19 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.293T>C (p.Val98Ala) SNV Uncertain significance 538806 rs1555418891 GRCh37: 15:35085607-35085607
GRCh38: 15:34793406-34793406
20 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.12C>A (p.Asp4Glu) SNV Uncertain significance 538807 rs768526036 GRCh37: 15:35086998-35086998
GRCh38: 15:34794797-34794797
21 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.94G>A (p.Val32Ile) SNV Uncertain significance 538808 rs1555419003 GRCh37: 15:35086916-35086916
GRCh38: 15:34794715-34794715
22 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.129G>A (p.Gln43=) SNV Uncertain significance 240098 rs878854753 GRCh37: 15:35086881-35086881
GRCh38: 15:34794680-34794680
23 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.607G>A (p.Val203Ile) SNV Uncertain significance 410263 rs1060502822 GRCh37: 15:35084618-35084618
GRCh38: 15:34792417-34792417
24 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.496C>T (p.Pro166Ser) SNV Uncertain significance 410266 rs267606628 GRCh37: 15:35084729-35084729
GRCh38: 15:34792528-34792528
25 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.784A>T (p.Thr262Ser) SNV Uncertain significance 410262 rs1060502821 GRCh37: 15:35084315-35084315
GRCh38: 15:34792114-34792114
26 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.62C>T (p.Ala21Val) SNV Uncertain significance 410264 rs1060502823 GRCh37: 15:35086948-35086948
GRCh38: 15:34794747-34794747
27 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.692C>T (p.Thr231Ile) SNV Uncertain significance 410267 rs1060502825 GRCh37: 15:35084407-35084407
GRCh38: 15:34792206-34792206
28 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.482T>C (p.Val161Ala) SNV Uncertain significance 410265 rs1060502824 GRCh37: 15:35084743-35084743
GRCh38: 15:34792542-34792542
29 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.188A>G (p.Lys63Arg) SNV Uncertain significance 196406 rs794727502 GRCh37: 15:35085712-35085712
GRCh38: 15:34793511-34793511
30 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.574A>G (p.Met192Val) SNV Uncertain significance 478618 rs1555418823 GRCh37: 15:35084651-35084651
GRCh38: 15:34792450-34792450
31 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.634C>T (p.Arg212Cys) SNV Uncertain significance 953784 GRCh37: 15:35084465-35084465
GRCh38: 15:34792264-34792264
32 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.727G>C (p.Glu243Gln) SNV Uncertain significance 954779 GRCh37: 15:35084372-35084372
GRCh38: 15:34792171-34792171
33 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser) SNV Uncertain significance 45175 rs397517059 GRCh37: 15:35085590-35085590
GRCh38: 15:34793389-34793389
34 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.616+6T>C SNV Uncertain significance 919548 GRCh37: 15:35084603-35084603
GRCh38: 15:34792402-34792402
35 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.2T>C (p.Met1Thr) SNV Uncertain significance 967017 GRCh37: 15:35087008-35087008
GRCh38: 15:34794807-34794807
36 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.409G>A (p.Ala137Thr) SNV Uncertain significance 999442 GRCh37: 15:35085491-35085491
GRCh38: 15:34793290-34793290
37 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.959C>T (p.Thr320Ile) SNV Uncertain significance 1001284 GRCh37: 15:35083346-35083346
GRCh38: 15:34791145-34791145
38 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.477T>G (p.Asp159Glu) SNV Uncertain significance 264401 rs886039144 GRCh37: 15:35084748-35084748
GRCh38: 15:34792547-34792547
39 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.532A>T (p.Met178Leu) SNV Uncertain significance 517203 rs1555418829 GRCh37: 15:35084693-35084693
GRCh38: 15:34792492-34792492
40 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.808+3G>A SNV Uncertain significance 45189 rs397517070 GRCh37: 15:35084288-35084288
GRCh38: 15:34792087-34792087
41 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr) SNV Uncertain significance 180776 rs730880409 GRCh37: 15:35084725-35084725
GRCh38: 15:34792524-34792524
42 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu) SNV Uncertain significance 177786 rs727504323 GRCh37: 15:35084306-35084306
GRCh38: 15:34792105-34792105
43 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe) SNV Uncertain significance 45191 rs397517073 GRCh37: 15:35083455-35083455
GRCh38: 15:34791254-34791254
44 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.83C>T (p.Ala28Val) SNV Uncertain significance 50937 rs397517072 GRCh37: 15:35086927-35086927
GRCh38: 15:34794726-34794726
45 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.813G>A (p.Met271Ile) SNV Uncertain significance 835562 GRCh37: 15:35083492-35083492
GRCh38: 15:34791291-34791291
46 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.922T>C (p.Tyr308His) SNV Uncertain significance 948806 GRCh37: 15:35083383-35083383
GRCh38: 15:34791182-34791182
47 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.884T>A (p.Leu295Gln) SNV Uncertain significance 952949 GRCh37: 15:35083421-35083421
GRCh38: 15:34791220-34791220
48 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.616+4_616+7del Deletion Uncertain significance 1014502 GRCh37: 15:35084602-35084605
GRCh38: 15:34792401-34792404
49 ACTC1 NC_000015.9:g.(?_35080829)_(35087019_?)del Deletion Uncertain significance 1015399 GRCh37: 15:35080829-35087019
GRCh38:
50 ACTC1 , LOC101928174 NM_005159.5(ACTC1):c.311C>T (p.Pro104Leu) SNV Uncertain significance 636464 rs1405829098 GRCh37: 15:35085589-35085589
GRCh38: 15:34793388-34793388

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

72
# Symbol AA change Variation ID SNP ID
1 ACTC1 p.Met125Val VAR_046502 rs121912677

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 10.52 TBX20 NKX2-5 ACTC1
2 9.73 NKX2-5 ACTC1

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 aortic valve morphogenesis GO:0003180 9.32 TBX20 NKX2-5
2 outflow tract septum morphogenesis GO:0003148 9.26 TBX20 NKX2-5
3 embryonic heart tube development GO:0035050 9.16 TBX20 NKX2-5
4 atrial septum morphogenesis GO:0060413 8.96 TBX20 NKX2-5
5 cardiac muscle tissue morphogenesis GO:0055008 8.8 TBX20 NKX2-5 ACTC1

Sources for Atrial Septal Defect 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....