MCID: ATR023
MIFTS: 23

Atrial Septal Defect 5

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

Aliases & Classifications for Atrial Septal Defect 5

MalaCards integrated aliases for Atrial Septal Defect 5:

Name: Atrial Septal Defect 5 57 12 75 29 13 6 73
Asd5 57 12 75
Atrial Heart Septal Defect 5 12 15
Septal Defect, Atrial, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
two swedish families have been described


HPO:

32
atrial septal defect 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612794
Disease Ontology 12 DOID:0110110
ICD10 33 Q21.1
MedGen 42 C2748552
MeSH 44 D006344
UMLS 73 C2748552

Summaries for Atrial Septal Defect 5

UniProtKB/Swiss-Prot : 75 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 granulosa cell tumor of the ovary and heart disease. 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 4 family:

Atrial Septal Defect 1 Atrial Septal Defect 2
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 granulosa cell tumor of the ovary 9.6 ACTC1 INS
2 heart disease 9.2 ACTC1 INS
3 left ventricular noncompaction 9.1 ACTC1 LOC101928174

Symptoms & Phenotypes for Atrial Septal Defect 5

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
atrial septal defect, secundum


Clinical features from OMIM:

612794

Human phenotypes related to Atrial Septal Defect 5:

32
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 32 HP:0001631

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:

41
Heart

Publications for Atrial Septal Defect 5

Variations for Atrial Septal Defect 5

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

75
# 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 90)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTC1 NM_005159.4(ACTC1): c.941G> A (p.Arg314His) single nucleotide variant Likely pathogenic rs121912673 GRCh37 Chromosome 15, 35083364: 35083364
2 ACTC1 NM_005159.4(ACTC1): c.941G> A (p.Arg314His) single nucleotide variant Likely pathogenic rs121912673 GRCh38 Chromosome 15, 34791163: 34791163
3 ACTC1 NM_005159.4(ACTC1): c.373A> G (p.Met125Val) single nucleotide variant Pathogenic rs121912677 GRCh37 Chromosome 15, 35085527: 35085527
4 ACTC1 NM_005159.4(ACTC1): c.373A> G (p.Met125Val) single nucleotide variant Pathogenic rs121912677 GRCh38 Chromosome 15, 34793326: 34793326
5 ACTC1 NM_005159.4(ACTC1): c.214_230del17 (p.Pro72Hisfs) deletion Pathogenic rs387906585 GRCh37 Chromosome 15, 35085670: 35085686
6 ACTC1 NM_005159.4(ACTC1): c.214_230del17 (p.Pro72Hisfs) deletion Pathogenic rs387906585 GRCh38 Chromosome 15, 34793469: 34793485
7 ACTC1 NM_005159.4(ACTC1): c.793C> G (p.Gln265Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs727504323 GRCh37 Chromosome 15, 35084306: 35084306
8 ACTC1 NM_005159.4(ACTC1): c.793C> G (p.Gln265Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs727504323 GRCh38 Chromosome 15, 34792105: 34792105
9 ACTC1 NM_005159.4(ACTC1): c.165C> T (p.Tyr55=) single nucleotide variant Likely benign rs149432225 GRCh37 Chromosome 15, 35085735: 35085735
10 ACTC1 NM_005159.4(ACTC1): c.165C> T (p.Tyr55=) single nucleotide variant Likely benign rs149432225 GRCh38 Chromosome 15, 34793534: 34793534
11 ACTC1 NM_005159.4(ACTC1): c.886T> A (p.Tyr296Asn) single nucleotide variant Uncertain significance rs730880402 GRCh38 Chromosome 15, 34791218: 34791218
12 ACTC1 NM_005159.4(ACTC1): c.886T> A (p.Tyr296Asn) single nucleotide variant Uncertain significance rs730880402 GRCh37 Chromosome 15, 35083419: 35083419
13 ACTC1 NM_005159.4(ACTC1): c.529A> G (p.Ile177Val) single nucleotide variant Uncertain significance rs730880392 GRCh37 Chromosome 15, 35084696: 35084696
14 ACTC1 NM_005159.4(ACTC1): c.529A> G (p.Ile177Val) single nucleotide variant Uncertain significance rs730880392 GRCh38 Chromosome 15, 34792495: 34792495
15 ACTC1 NM_005159.4(ACTC1): c.500T> C (p.Ile167Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs730880409 GRCh38 Chromosome 15, 34792524: 34792524
16 ACTC1 NM_005159.4(ACTC1): c.500T> C (p.Ile167Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs730880409 GRCh37 Chromosome 15, 35084725: 35084725
17 ACTC1 NM_005159.4(ACTC1): c.56_57insCA (p.Lys20Argfs) insertion Uncertain significance rs730880387 GRCh38 Chromosome 15, 34794752: 34794753
18 ACTC1 NM_005159.4(ACTC1): c.56_57insCA (p.Lys20Argfs) insertion Uncertain significance rs730880387 GRCh37 Chromosome 15, 35086953: 35086954
19 ACTC1 NM_005159.4(ACTC1): c.188A> G (p.Lys63Arg) single nucleotide variant Uncertain significance rs794727502 GRCh37 Chromosome 15, 35085712: 35085712
20 ACTC1 NM_005159.4(ACTC1): c.188A> G (p.Lys63Arg) single nucleotide variant Uncertain significance rs794727502 GRCh38 Chromosome 15, 34793511: 34793511
21 ACTC1 NM_005159.4(ACTC1): c.333G> A (p.Pro111=) single nucleotide variant Likely benign rs774767260 GRCh38 Chromosome 15, 34793366: 34793366
22 ACTC1 NM_005159.4(ACTC1): c.333G> A (p.Pro111=) single nucleotide variant Likely benign rs774767260 GRCh37 Chromosome 15, 35085567: 35085567
23 ACTC1 NM_005159.4(ACTC1): c.456C> T (p.Gly152=) single nucleotide variant Likely benign rs771310484 GRCh38 Chromosome 15, 34792568: 34792568
24 ACTC1 NM_005159.4(ACTC1): c.456C> T (p.Gly152=) single nucleotide variant Likely benign rs771310484 GRCh37 Chromosome 15, 35084769: 35084769
25 ACTC1 NM_005159.4(ACTC1): c.342C> T (p.Pro114=) single nucleotide variant Likely benign rs878854754 GRCh37 Chromosome 15, 35085558: 35085558
26 ACTC1 NM_005159.4(ACTC1): c.342C> T (p.Pro114=) single nucleotide variant Likely benign rs878854754 GRCh38 Chromosome 15, 34793357: 34793357
27 ACTC1 NM_005159.4(ACTC1): c.129G> A (p.Gln43=) single nucleotide variant Uncertain significance rs878854753 GRCh38 Chromosome 15, 34794680: 34794680
28 ACTC1 NM_005159.4(ACTC1): c.129G> A (p.Gln43=) single nucleotide variant Uncertain significance rs878854753 GRCh37 Chromosome 15, 35086881: 35086881
29 ACTC1 NM_005159.4(ACTC1): c.1053G> C (p.Leu351=) single nucleotide variant Conflicting interpretations of pathogenicity rs151321743 GRCh38 Chromosome 15, 34790493: 34790493
30 ACTC1 NM_005159.4(ACTC1): c.1053G> C (p.Leu351=) single nucleotide variant Conflicting interpretations of pathogenicity rs151321743 GRCh37 Chromosome 15, 35082694: 35082694
31 ACTC1 NM_005159.4(ACTC1): c.537T> A (p.Arg179=) single nucleotide variant Conflicting interpretations of pathogenicity rs750131288 GRCh38 Chromosome 15, 34792487: 34792487
32 ACTC1 NM_005159.4(ACTC1): c.537T> A (p.Arg179=) single nucleotide variant Conflicting interpretations of pathogenicity rs750131288 GRCh37 Chromosome 15, 35084688: 35084688
33 ACTC1 NM_005159.4(ACTC1): c.399C> T (p.Ala133=) single nucleotide variant Likely benign rs764630691 GRCh37 Chromosome 15, 35085501: 35085501
34 ACTC1 NM_005159.4(ACTC1): c.399C> T (p.Ala133=) single nucleotide variant Likely benign rs764630691 GRCh38 Chromosome 15, 34793300: 34793300
35 ACTC1 NM_005159.4(ACTC1): c.784A> T (p.Thr262Ser) single nucleotide variant Uncertain significance rs1060502821 GRCh37 Chromosome 15, 35084315: 35084315
36 ACTC1 NM_005159.4(ACTC1): c.784A> T (p.Thr262Ser) single nucleotide variant Uncertain significance rs1060502821 GRCh38 Chromosome 15, 34792114: 34792114
37 ACTC1 NM_005159.4(ACTC1): c.309C> T (p.His103=) single nucleotide variant Likely benign rs769303249 GRCh37 Chromosome 15, 35085591: 35085591
38 ACTC1 NM_005159.4(ACTC1): c.309C> T (p.His103=) single nucleotide variant Likely benign rs769303249 GRCh38 Chromosome 15, 34793390: 34793390
39 ACTC1 NM_005159.4(ACTC1): c.692C> T (p.Thr231Ile) single nucleotide variant Uncertain significance rs1060502825 GRCh38 Chromosome 15, 34792206: 34792206
40 ACTC1 NM_005159.4(ACTC1): c.692C> T (p.Thr231Ile) single nucleotide variant Uncertain significance rs1060502825 GRCh37 Chromosome 15, 35084407: 35084407
41 ACTC1 NM_005159.4(ACTC1): c.496C> T (p.Pro166Ser) single nucleotide variant Uncertain significance rs267606628 GRCh38 Chromosome 15, 34792528: 34792528
42 ACTC1 NM_005159.4(ACTC1): c.496C> T (p.Pro166Ser) single nucleotide variant Uncertain significance rs267606628 GRCh37 Chromosome 15, 35084729: 35084729
43 ACTC1 NM_005159.4(ACTC1): c.66C> T (p.Gly22=) single nucleotide variant Likely benign rs1060504729 GRCh38 Chromosome 15, 34794743: 34794743
44 ACTC1 NM_005159.4(ACTC1): c.66C> T (p.Gly22=) single nucleotide variant Likely benign rs1060504729 GRCh37 Chromosome 15, 35086944: 35086944
45 ACTC1 NM_005159.4(ACTC1): c.62C> T (p.Ala21Val) single nucleotide variant Uncertain significance rs1060502823 GRCh38 Chromosome 15, 34794747: 34794747
46 ACTC1 NM_005159.4(ACTC1): c.62C> T (p.Ala21Val) single nucleotide variant Uncertain significance rs1060502823 GRCh37 Chromosome 15, 35086948: 35086948
47 ACTC1 NM_005159.4(ACTC1): c.607G> A (p.Val203Ile) single nucleotide variant Uncertain significance rs1060502822 GRCh37 Chromosome 15, 35084618: 35084618
48 ACTC1 NM_005159.4(ACTC1): c.607G> A (p.Val203Ile) single nucleotide variant Uncertain significance rs1060502822 GRCh38 Chromosome 15, 34792417: 34792417
49 ACTC1 NM_005159.4(ACTC1): c.482T> C (p.Val161Ala) single nucleotide variant Uncertain significance rs1060502824 GRCh38 Chromosome 15, 34792542: 34792542
50 ACTC1 NM_005159.4(ACTC1): c.482T> C (p.Val161Ala) single nucleotide variant Uncertain significance rs1060502824 GRCh37 Chromosome 15, 35084743: 35084743

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 negative regulation of apoptotic process GO:0043066 8.96 ACTC1 INS
2 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 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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