ASD5
MCID: ATR023
MIFTS: 29

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 56 12 73 29 13 6 71
Asd5 56 12 73
Atrial Heart Septal Defect 5 12 15
Septal Defect, Atrial, Type 5 39

Characteristics:

OMIM:

56
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 56 612794
OMIM Phenotypic Series 56 PS108800
MeSH 43 D006344
ICD10 32 Q21.1
MedGen 41 C2748552
UMLS 71 C2748552

Summaries for Atrial Septal Defect 5

UniProtKB/Swiss-Prot : 73 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). 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

Diseases in the Atrial Septal Defect 2 family:

Atrial Septal Defect 1 Atrial Septal Defect 4
Atrial Septal Defect 5 Atrial Septal Defect 6
Atrial Septal Defect 3 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 heart septal defect 10.0
2 atrial heart septal defect 10.0
3 patent foramen ovale 9.6 TLL1 MED13L ACTC1
4 atrial septal defect 4 9.5 TLL1 PROX2
5 atrial septal defect 6 9.3 TNRC18 TLL1 PROX2

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:

56
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 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 14)
# Title Authors PMID Year
1
Alpha-cardiac actin mutations produce atrial septal defects. 6 56
17947298 2008
2
[A Case of Successful Surgery for Adult Partial Atrioventricular Septal Defect]. 61
31292370 2019
3
Cardiac Emboli Documented by Intraoperative Transesophageal Echocardiogram During Administration of a Topical Hemostatic Agent Prior to Pedicle Subtraction Osteotomy. 61
27128259 2016
4
Clinical analysis on application of color Doppler echocardiographic in cortriatrium diagnosis. 61
26400533 2015
5
Endothelin receptor antagonists improve exercise tolerance and oxygen saturations in patients with Eisenmenger syndrome and congenital heart defects. 61
18941642 2008
6
Congenital heart disease in infants of diabetic mothers: echocardiographic study. 61
14648003 2004
7
Cardiac function and morphology studied by two-dimensional Doppler echocardiography in unsedated newborn pigs. 61
10081708 1999
8
[Congenital cardiovascular malformations and chromosome microdeletions in 22q11.2]. 61
9951451 1999
9
Indications and contraindications for heart transplantation in infancy. 61
8312327 1993
10
Pulsed Doppler assessment of left ventricular diastolic function in atrial septal defect. 61
15227451 1992
11
[Prenatal diagnosis of fetal cardiac disease with echocardiography. National Group for Fetal Echocardiography]. 61
1505274 1992
12
[Wolff-Parkinson-White syndrome and cardiopathies]. 61
6240236 1984
13
Comparison of effects of prostaglandin E1 and nitroprusside on pulmonary vascular resistance in children after open-heart surgery. 61
7198428 1981
14
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 92) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACTC1 NM_005159.5(ACTC1):c.373A>G (p.Met125Val)SNV Pathogenic 18327 rs121912677 15:35085527-35085527 15:34793326-34793326
2 ACTC1 NM_005159.5(ACTC1):c.215_231del (p.Pro72fs)deletion Pathogenic 18328 rs387906585 15:35085669-35085685 15:34793468-34793484
3 ACTC1 NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro)SNV Pathogenic 18329 rs267606629 15:35082750-35082750 15:34790549-34790549
4 ACTC1 NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)SNV Pathogenic/Likely pathogenic 18331 rs193922680 15:35085599-35085599 15:34793398-34793398
5 ACTC1 NM_005159.5(ACTC1):c.941G>A (p.Arg314His)SNV Likely pathogenic 18323 rs121912673 15:35083364-35083364 15:34791163-34791163
6 ACTC1 NM_005159.5(ACTC1):c.129+6C>GSNV Conflicting interpretations of pathogenicity 517958 rs564151494 15:35086875-35086875 15:34794674-34794674
7 ACTC1 NM_005159.5(ACTC1):c.903A>G (p.Leu301=)SNV Conflicting interpretations of pathogenicity 45192 rs138347995 15:35083402-35083402 15:34791201-34791201
8 ACTC1 NM_005159.5(ACTC1):c.270C>T (p.His90=)SNV Conflicting interpretations of pathogenicity 136280 rs138812333 15:35085630-35085630 15:34793429-34793429
9 ACTC1 NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu)SNV Conflicting interpretations of pathogenicity 177786 rs727504323 15:35084306-35084306 15:34792105-34792105
10 ACTC1 NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn)SNV Conflicting interpretations of pathogenicity 177917 rs727504399 15:35086934-35086934 15:34794733-34794733
11 ACTC1 NM_005159.5(ACTC1):c.998C>T (p.Ala333Val)SNV Conflicting interpretations of pathogenicity 180773 rs730880406 15:35082749-35082749 15:34790548-34790548
12 ACTC1 NM_005159.5(ACTC1):c.968C>T (p.Ala323Val)SNV Conflicting interpretations of pathogenicity 180771 rs730880404 15:35083337-35083337 15:34791136-34791136
13 ACTC1 NM_005159.5(ACTC1):c.886T>C (p.Tyr296His)SNV Conflicting interpretations of pathogenicity 180769 rs730880402 15:35083419-35083419 15:34791218-34791218
14 ACTC1 NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)SNV Conflicting interpretations of pathogenicity 50936 rs397517057 15:35086982-35086982 15:34794781-34794781
15 ACTC1 NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr)SNV Conflicting interpretations of pathogenicity 180776 rs730880409 15:35084725-35084725 15:34792524-34792524
16 ACTC1 NM_005159.5(ACTC1):c.930T>C (p.Gly310=)SNV Conflicting interpretations of pathogenicity 487317 rs561081869 15:35083375-35083375 15:34791174-34791174
17 ACTC1 NM_005159.5(ACTC1):c.10G>C (p.Asp4His)SNV Conflicting interpretations of pathogenicity 180775 rs730880408 15:35087000-35087000 15:34794799-34794799
18 ACTC1 NM_005159.5(ACTC1):c.1053G>C (p.Leu351=)SNV Conflicting interpretations of pathogenicity 315702 rs151321743 15:35082694-35082694 15:34790493-34790493
19 ACTC1 NM_005159.5(ACTC1):c.537T>A (p.Arg179=)SNV Conflicting interpretations of pathogenicity 315711 rs750131288 15:35084688-35084688 15:34792487-34792487
20 ACTC1 NM_005159.5(ACTC1):c.309C>A (p.His103Gln)SNV Conflicting interpretations of pathogenicity 377435 rs769303249 15:35085591-35085591 15:34793390-34793390
21 ACTC1 NM_005159.5(ACTC1):c.129G>A (p.Gln43=)SNV Uncertain significance 240098 rs878854753 15:35086881-35086881 15:34794680-34794680
22 ACTC1 NM_005159.5(ACTC1):c.188A>G (p.Lys63Arg)SNV Uncertain significance 196406 rs794727502 15:35085712-35085712 15:34793511-34793511
23 ACTC1 NM_005159.5(ACTC1):c.501C>G (p.Ile167Met)SNV Uncertain significance 471457 rs1306504752 15:35084724-35084724 15:34792523-34792523
24 ACTC1 NM_005159.5(ACTC1):c.458T>C (p.Ile153Thr)SNV Uncertain significance 487204 rs1555418843 15:35084767-35084767 15:34792566-34792566
25 ACTC1 NM_005159.5(ACTC1):c.134T>C (p.Val45Ala)SNV Uncertain significance 471455 rs1555418924 15:35085766-35085766 15:34793565-34793565
26 ACTC1 NM_005159.5(ACTC1):c.562A>G (p.Thr188Ala)SNV Uncertain significance 478617 rs1555418824 15:35084663-35084663 15:34792462-34792462
27 ACTC1 NM_005159.5(ACTC1):c.574A>G (p.Met192Val)SNV Uncertain significance 478618 rs1555418823 15:35084651-35084651 15:34792450-34792450
28 ACTC1 NM_005159.5(ACTC1):c.784A>T (p.Thr262Ser)SNV Uncertain significance 410262 rs1060502821 15:35084315-35084315 15:34792114-34792114
29 ACTC1 NM_005159.5(ACTC1):c.692C>T (p.Thr231Ile)SNV Uncertain significance 410267 rs1060502825 15:35084407-35084407 15:34792206-34792206
30 ACTC1 NM_005159.5(ACTC1):c.496C>T (p.Pro166Ser)SNV Uncertain significance 410266 rs267606628 15:35084729-35084729 15:34792528-34792528
31 ACTC1 NM_005159.5(ACTC1):c.62C>T (p.Ala21Val)SNV Uncertain significance 410264 rs1060502823 15:35086948-35086948 15:34794747-34794747
32 ACTC1 NM_005159.5(ACTC1):c.607G>A (p.Val203Ile)SNV Uncertain significance 410263 rs1060502822 15:35084618-35084618 15:34792417-34792417
33 ACTC1 NM_005159.5(ACTC1):c.482T>C (p.Val161Ala)SNV Uncertain significance 410265 rs1060502824 15:35084743-35084743 15:34792542-34792542
34 ACTC1 NM_005159.5(ACTC1):c.454G>A (p.Gly152Ser)SNV Uncertain significance 538811 rs1247069535 15:35085446-35085446 15:34793245-34793245
35 ACTC1 NC_000015.9:g.(?_35082593)_(35087029_?)dupduplication Uncertain significance 538814 15:35082593-35087029 15:34790392-34794828
36 ACTC1 NM_005159.5(ACTC1):c.293T>C (p.Val98Ala)SNV Uncertain significance 538806 rs1555418891 15:35085607-35085607 15:34793406-34793406
37 ACTC1 NM_005159.5(ACTC1):c.507G>A (p.Glu169=)SNV Uncertain significance 538812 rs1555418837 15:35084718-35084718 15:34792517-34792517
38 ACTC1 NM_005159.5(ACTC1):c.178G>A (p.Ala60Thr)SNV Uncertain significance 538805 rs1555418912 15:35085722-35085722 15:34793521-34793521
39 ACTC1 NM_005159.5(ACTC1):c.94G>A (p.Val32Ile)SNV Uncertain significance 538808 rs1555419003 15:35086916-35086916 15:34794715-34794715
40 ACTC1 NM_005159.5(ACTC1):c.12C>A (p.Asp4Glu)SNV Uncertain significance 538807 rs768526036 15:35086998-35086998 15:34794797-34794797
41 ACTC1 NM_005159.5(ACTC1):c.10G>A (p.Asp4Asn)SNV Uncertain significance 538810 rs730880408 15:35087000-35087000 15:34794799-34794799
42 ACTC1 NM_005159.5(ACTC1):c.723C>A (p.Ser241Arg)SNV Uncertain significance 565936 rs1566967406 15:35084376-35084376 15:34792175-34792175
43 ACTC1 NM_005159.5(ACTC1):c.524A>C (p.His175Pro)SNV Uncertain significance 566055 rs1566967487 15:35084701-35084701 15:34792500-34792500
44 ACTC1 NM_005159.5(ACTC1):c.397G>A (p.Ala133Thr)SNV Uncertain significance 570215 rs1566967697 15:35085503-35085503 15:34793302-34793302
45 ACTC1 NM_005159.5(ACTC1):c.1081A>G (p.Lys361Glu)SNV Uncertain significance 656273 15:35082666-35082666 15:34790465-34790465
46 ACTC1 NM_005159.5(ACTC1):c.957_959dup (p.Thr320dup)duplication Uncertain significance 652872 15:35083345-35083346 15:34791144-34791145
47 ACTC1 NM_005159.5(ACTC1):c.934_935delinsT (p.Ala312fs)indel Uncertain significance 644014 15:35083370-35083371 15:34791169-34791170
48 ACTC1 NM_005159.5(ACTC1):c.892A>G (p.Asn298Asp)SNV Uncertain significance 658563 15:35083413-35083413 15:34791212-34791212
49 ACTC1 NM_005159.5(ACTC1):c.707C>T (p.Ser236Phe)SNV Uncertain significance 642187 15:35084392-35084392 15:34792191-34792191
50 ACTC1 NM_005159.5(ACTC1):c.687G>A (p.Met229Ile)SNV Uncertain significance 652722 15:35084412-35084412 15:34792211-34792211

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

73
# 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

GO Terms for Atrial Septal Defect 5

Sources for Atrial Septal Defect 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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