MCID: ATR023
MIFTS: 22

Atrial Septal Defect 5

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Atrial Septal Defect 5

MalaCards integrated aliases for Atrial Septal Defect 5:

Name: Atrial Septal Defect 5 54 12 24 71 29 13 69
Asd5 12 24 71
Atrial Heart Septal Defect 5 12

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
two swedish families have been described


Classifications:



External Ids:

OMIM 54 612794
Disease Ontology 12 DOID:0110110
ICD10 33 Q21.1
MedGen 40 C2748552
MeSH 42 D006344

Summaries for Atrial Septal Defect 5

UniProtKB/Swiss-Prot : 71 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, is also known as asd5, and has symptoms including atrial septal defect An important gene associated with Atrial Septal Defect 5 is ACTC1 (Actin, Alpha, Cardiac Muscle 1). The drugs Bosentan and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include heart.

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

Symptoms & Phenotypes for Atrial Septal Defect 5

Symptoms via clinical synopsis from OMIM:

54

Cardiovascular- Heart:
atrial septal defect, secundum


Clinical features from OMIM:

612794

Human phenotypes related to Atrial Septal Defect 5:

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

Drugs & Therapeutics for Atrial Septal Defect 5

Drugs for Atrial Septal Defect 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational 147536-97-8 104865
2
Benzocaine Approved 1994-09-7, 94-09-7 2337
3 tannic acid Approved, Nutraceutical
4 Antihypertensive Agents
5 Endothelin Receptor Antagonists
6 Phosphodiesterase 5 Inhibitors
7 Phosphodiesterase Inhibitors
8 Sildenafil Citrate 171599-83-0
9 Vasodilator Agents
10 Anesthetics
11 Anesthetics, Local
12 Central Nervous System Depressants
13 Peripheral Nervous System Agents
14 Tin Fluorides
15 Citrate Nutraceutical
16
Citric Acid Nutraceutical, Vet_approved 77-92-9 311

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Utilization of Confocal Microscopy During Cardiac Surgery Not yet recruiting NCT03189134 Phase 1 Fluorescite
2 Evaluation of Latent Pulmonary Arterial Hypertension in Congenital Shunt Lesions Completed NCT02552485
3 Pulmonary Hypertension in Trisomy 21 Patients Completed NCT00478296
4 EVEREST II Pivotal Study High Risk Registry (HRR) Completed NCT01940120
5 Pivotal Study of a Percutaneous Mitral Valve Repair System Completed NCT00209274
6 ADVANCE ASO AMPLATZERâ„¢ Atrial Septal Occluder Post Market Surveillance Study Terminated NCT02353351
7 Comparison of Oxygen Saturation During Different Intraoperative Positions Terminated NCT01744886

Search NIH Clinical Center for Atrial Septal Defect 5

Genetic Tests for Atrial Septal Defect 5

Genetic tests related to Atrial Septal Defect 5:

id Genetic test Affiliating Genes
1 Atrial Septal Defect 5 29 24 ACTC1

Anatomical Context for Atrial Septal Defect 5

MalaCards organs/tissues related to Atrial Septal Defect 5:

39
Heart

Publications for Atrial Septal Defect 5

Variations for Atrial Septal Defect 5

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

71
id Symbol AA change Variation ID SNP ID
1 ACTC1 p.Met125Val VAR_046502 rs121912677

ClinVar genetic disease variations for Atrial Septal Defect 5:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ACTC1 NM_005159.4(ACTC1): c.373A> G (p.Met125Val) single nucleotide variant Pathogenic rs121912677 GRCh37 Chromosome 15, 35085527: 35085527
2 ACTC1 NM_005159.4(ACTC1): c.214_230del17 (p.Pro72Hisfs) deletion Pathogenic rs387906585 GRCh37 Chromosome 15, 35085670: 35085686

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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