MCID: ATR022
MIFTS: 35

Atrial Septal Defect 3

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Atrial Septal Defect 3

MalaCards integrated aliases for Atrial Septal Defect 3:

Name: Atrial Septal Defect 3 54 12 24 71 29 13 69
Asd3 12 24 71
Atrial Heart Septal Defect 3 12 14

Characteristics:

HPO:

32
atrial septal defect 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614089
Disease Ontology 12 DOID:0110108
ICD10 33 Q21.1
MeSH 42 D006344
SNOMED-CT via HPO 65 263681008 204315000

Summaries for Atrial Septal Defect 3

UniProtKB/Swiss-Prot : 71 Atrial septal defect 3: 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 3, also known as asd3, is related to dentine erosion and monostotic fibrous dysplasia, and has symptoms including secundum atrial septal defect An important gene associated with Atrial Septal Defect 3 is MYH6 (Myosin Heavy Chain 6), and among its related pathways/superpathways are Primary Focal Segmental Glomerulosclerosis FSGS and Nephrin interactions. The drugs Aspirin and Ticlopidine have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotype is renal/urinary system.

Disease Ontology : 12 An atrial heart septal defect type 3 that has material basis in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12.

Description from OMIM: 614089

Related Diseases for Atrial Septal Defect 3

Diseases in the Atrial Septal Defect 2 family:

Atrial Septal Defect 6 Atrial Septal Defect 1
Atrial Septal Defect 8 Atrial Septal Defect 4
Atrial Septal Defect 3 Atrial Septal Defect 5
Atrial Septal Defect 9

Diseases related to Atrial Septal Defect 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
id Related Disease Score Top Affiliating Genes
1 dentine erosion 10.1 CITED2 MYH6
2 monostotic fibrous dysplasia 10.0 CD2AP NPHS2
3 muscular dystrophy-dystroglycanopathy , type a, 1 9.9 CD2AP NPHS2
4 renal hypoplasia 9.8 NPHS1 NPHS2
5 sarcocystosis 9.8 NPHS1 NPHS2
6 46xy sex reversal 8 9.7 NPHS1 NPHS2
7 digestive system melanoma 9.7 NPHS1 NPHS2
8 prostate neuroendocrine neoplasm 9.6 NPHS1 NPHS2
9 exocrine pancreatic insufficiency 9.5 NPHS1 NPHS2
10 granuloma annulare 9.5 NPHS1 NPHS2
11 calcinosis 9.4 NPHS1 NPHS2
12 congenital pulmonary alveolar proteinosis 9.2 CD2AP NPHS1 NPHS2
13 female stress incontinence 9.2 CD2AP NPHS1 NPHS2
14 hyperferritinemia-cataract syndrome 9.2 CD2AP NPHS1 NPHS2
15 nephrotic syndrome, type 4 9.2 CD2AP NPHS1 NPHS2
16 spastic monoplegia 9.2 CD2AP NPHS1 NPHS2
17 chronic myelomonocytic leukemia 9.2 NPHS1 NPHS2
18 meacham syndrome 9.2 CD2AP NPHS1 NPHS2
19 nasopharyngeal carcinoma 2 9.2 CD2AP NPHS1 NPHS2
20 transient refractive change 9.2 CD2AP NPHS1 NPHS2
21 hyperbiliverdinemia 9.2 CD2AP NPHS1 NPHS2
22 gas gangrene 9.1 CD2AP NPHS1 NPHS2
23 inhibited male orgasm 9.1 CD2AP NPHS1 NPHS2
24 cardiomyopathy, dilated, 1ee 7.8 CD2AP CITED2 ENPEP MYH6 NPHS1 NPHS2

Graphical network of the top 20 diseases related to Atrial Septal Defect 3:



Diseases related to Atrial Septal Defect 3

Symptoms & Phenotypes for Atrial Septal Defect 3

Clinical features from OMIM:

614089

Human phenotypes related to Atrial Septal Defect 3:

32
id Description HPO Frequency HPO Source Accession
1 secundum atrial septal defect 32 HP:0001684

MGI Mouse Phenotypes related to Atrial Septal Defect 3:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 CD2AP CITED2 NPHS1 NPHS2

Drugs & Therapeutics for Atrial Septal Defect 3

Drugs for Atrial Septal Defect 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
2
Ticlopidine Approved Phase 4 55142-85-3 5472
3
Clopidogrel Approved, Nutraceutical Phase 4 120202-66-6, 113665-84-2 60606
4 Analgesics Phase 4,Phase 3
5 Analgesics, Non-Narcotic Phase 4,Phase 3
6 Anti-Inflammatory Agents Phase 4
7 Anti-Inflammatory Agents, Non-Steroidal Phase 4
8 Antipyretics Phase 4
9 Antirheumatic Agents Phase 4
10 Cyclooxygenase Inhibitors Phase 4
11 Cytochrome P-450 Enzyme Inhibitors Phase 4
12 Fibrinolytic Agents Phase 4
13 Neurotransmitter Agents Phase 4,Phase 3
14 Peripheral Nervous System Agents Phase 4,Phase 3
15 Platelet Aggregation Inhibitors Phase 4
16 Purinergic P2 Receptor Antagonists Phase 4
17 Purinergic P2Y Receptor Antagonists Phase 4
18
Dexmedetomidine Approved, Vet_approved Phase 3 76631-46-4, 113775-47-6 68602 5311068 56032
19
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
20 Adrenergic Agents Phase 3
21 Adrenergic Agonists Phase 3
22 Adrenergic alpha-2 Receptor Agonists Phase 3
23 Adrenergic alpha-Agonists Phase 3
24 Central Nervous System Depressants Phase 3
25 Hypnotics and Sedatives Phase 3
26 Antihypertensive Agents Phase 3
27 Endothelin Receptor Antagonists Phase 3
28
Dalteparin Approved 9005-49-6
29
Heparin Approved, Investigational 9005-49-6 772 46507594
30
Benzocaine Approved 1994-09-7, 94-09-7 2337
31 tannic acid Approved, Nutraceutical
32 Anticoagulants
33 calcium heparin
34 Calcium, Dietary
35 Heparin, Low-Molecular-Weight
36 Pharmaceutical Solutions
37 Anesthetics
38 Anesthetics, Local
39 Tin Fluorides

Interventional clinical trials:

(show all 17)

id Name Status NCT ID Phase Drugs
1 Clopidogrel For the Prevention of New Onset Migraine Headache Following Transcatheter Closure of Atrial Septal Defects Unknown status NCT00799045 Phase 4 Clopidogrel
2 Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF) Study Completed NCT00431834 Phase 3
3 Medtronic Concomitant Utilization of Radio Frequency for Atrial Fibrillation CURE-AF/Persistent Completed NCT00506493 Phase 3
4 The Pharmacology and Hemodynamics of Dexmedetomidine in Children With Congenital Heart Disease Completed NCT00480740 Phase 3 Dexmedetomidine
5 Bosentan for Mild Pulmonary Vascular Disease in Asd Patients. Completed NCT01218607 Phase 3 Bosentan;Placebo
6 Right to Left Cardiac Shunt Detection Terminated NCT01773252 Phase 3
7 Study of Blood Clotting After Transcatheter Atrial Septal Defect Closure Unknown status NCT01086046 Low molecular weight heparin
8 EVEREST II Pivotal Study High Risk Registry (HRR) Completed NCT01940120
9 Pivotal Study of a Percutaneous Mitral Valve Repair System Completed NCT00209274
10 Percutaneous Closure of Atrial Septal Defects in Children: Integration of 3D Echocardiography and Fluoroscopy Imaging. Recruiting NCT02529111
11 The Effect of the Hole in the Cardiac Septum Developed by the MitraClip Procedure on the Blood Flow Mechanics Recruiting NCT02453451
12 Occluder Size Determination in Transcatheter ASD II Closure Based on 3D TEE Assessment Recruiting NCT02601768
13 Efficacy of Three Dimensional Transesophageal Echocardiography for Percutaneous Device Closure in Atrial Septal Defect Recruiting NCT02097758
14 The Effect on EPCs by Successful Cardiac Occlusion Device Implantation Recruiting NCT02957201
15 MitraClip® and Hemodynamic Effects of Relevant Iatrogenic Atrial Septum Defect Closure Recruiting NCT03024268
16 Cognitive Training in Children With ASD Not yet recruiting NCT02813564
17 Comparison of Oxygen Saturation During Different Intraoperative Positions Terminated NCT01744886

Search NIH Clinical Center for Atrial Septal Defect 3

Genetic Tests for Atrial Septal Defect 3

Genetic tests related to Atrial Septal Defect 3:

id Genetic test Affiliating Genes
1 Atrial Septal Defect 3 29 24 MYH6

Anatomical Context for Atrial Septal Defect 3

MalaCards organs/tissues related to Atrial Septal Defect 3:

39
Heart

Publications for Atrial Septal Defect 3

Articles related to Atrial Septal Defect 3:

id Title Authors Year
1
REPAIR OF ATRIAL SEPTAL DEFECT. 3. THORACIC THEATRE. ( 14105511 )
1964

Variations for Atrial Septal Defect 3

UniProtKB/Swiss-Prot genetic disease variations for Atrial Septal Defect 3:

71
id Symbol AA change Variation ID SNP ID
1 MYH6 p.Ile820Asn VAR_031883 rs267606903

ClinVar genetic disease variations for Atrial Septal Defect 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYH6 NM_002471.3(MYH6): c.2459T> A (p.Ile820Asn) single nucleotide variant Pathogenic rs267606903 GRCh37 Chromosome 14, 23863503: 23863503

Expression for Atrial Septal Defect 3

Search GEO for disease gene expression data for Atrial Septal Defect 3.

Pathways for Atrial Septal Defect 3

Pathways related to Atrial Septal Defect 3 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11 CD2AP NPHS1 NPHS2
2 10.5 CD2AP NPHS1
3 10.21 CD2AP NPHS1 NPHS2

GO Terms for Atrial Septal Defect 3

Cellular components related to Atrial Septal Defect 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 9.16 CD2AP NPHS2
2 protein complex GO:0043234 9.13 CD2AP CITED2 NPHS2
3 slit diaphragm GO:0036057 8.62 NPHS1 NPHS2

Biological processes related to Atrial Septal Defect 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 excretion GO:0007588 8.62 NPHS1 NPHS2

Sources for Atrial Septal Defect 3

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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