ASD3
MCID: ATR022
MIFTS: 36

Atrial Septal Defect 3 (ASD3) malady

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Atrial Septal Defect 3

Aliases & Descriptions for Atrial Septal Defect 3:

Name: Atrial Septal Defect 3 54 12 24 66 29 13 69
Asd3 12 24 66
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

Summaries for Atrial Septal Defect 3

UniProtKB/Swiss-Prot : 66 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 renal agenesis, unilateral and dentine erosion, 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 26)
id Related Disease Score Top Affiliating Genes
1 renal agenesis, unilateral 10.0 CD2AP NPHS2
2 dentine erosion 10.0 CITED2 MYH6
3 muscular dystrophy-dystroglycanopathy , type b, 1 10.0 CD2AP NPHS2
4 pauci-immune glomerulonephritis 9.9 NPHS1 NPHS2
5 glaucoma 1, open angle, e 9.9 NPHS1 NPHS2
6 aphthous stomatitis 9.9 NPHS1 NPHS2
7 diprosopia 9.9 NPHS1 NPHS2
8 hypertrichosis of eyelid 9.9 NPHS1 NPHS2
9 hypothyroidism, congenital, nongoitrous, 3 9.9 NPHS1 NPHS2
10 mixed germ cell-sex cord neoplasm 9.9 NPHS1 NPHS2
11 familial nephrotic syndrome 9.8 NPHS1 NPHS2
12 heart valve disease 9.8 NPHS1 NPHS2
13 congenital torticollis 9.7 CD2AP NPHS1 NPHS2
14 focal segmental glomerulosclerosis 9.7 CD2AP NPHS1 NPHS2
15 frasier syndrome 9.7 CD2AP NPHS1 NPHS2
16 malignant hyperthermia susceptibility 1 9.7 CD2AP NPHS1 NPHS2
17 hemiplegia 9.7 CD2AP NPHS1 NPHS2
18 deafness, autosomal recessive 51 9.7 CD2AP NPHS1 NPHS2
19 acral persistent papular mucinosis 9.7 CD2AP NPHS1 NPHS2
20 calcinosis 9.7 NPHS1 NPHS2
21 biliary cirrhosis, primary, 2 9.7 CD2AP NPHS1 NPHS2
22 gastric cancer 9.7 CD2AP NPHS1 NPHS2
23 transient refractive change 9.7 CD2AP NPHS1 NPHS2
24 cerebral cavernous malformations-2 9.7 CD2AP NPHS1 NPHS2
25 lung giant cell carcinoma 9.7 CD2AP NPHS1 NPHS2
26 sick sinus syndrome 3 9.2 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 CITED2 NPHS1 NPHS2 CD2AP

Drugs & Therapeutics for Atrial Septal Defect 3

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

(show top 50) (show all 64)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-78-2 2244
2
Ticlopidine Approved Phase 4 55142-85-3 5472
3
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3 76631-46-4, 113775-47-6 68602 5311068 56032
4
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6
Clopidogrel Approved, Nutraceutical Phase 4,Phase 3,Phase 2 120202-66-6, 113665-84-2 60606
7 Analgesics Phase 4,Phase 2,Phase 3
8 Chelating Agents Phase 4
9 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
10 Cyclooxygenase Inhibitors Phase 4,Phase 3,Phase 2
11 Cytochrome P-450 Enzyme Inhibitors Phase 4
12 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3
13 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3
14 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2
15 Fibrinolytic Agents Phase 4,Phase 3,Phase 2
16 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
17 Purinergic P2 Receptor Antagonists Phase 4,Phase 2
18 Purinergic P2Y Receptor Antagonists Phase 4,Phase 2
19 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2
20 Antipyretics Phase 4,Phase 2,Phase 3
21 Antirheumatic Agents Phase 4,Phase 3,Phase 2
22 Adrenergic Agents Phase 4,Phase 3
23 Adrenergic Agonists Phase 4,Phase 3
24 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 3
25 Adrenergic alpha-Agonists Phase 4,Phase 3
26 Hypnotics and Sedatives Phase 4,Phase 3
27 Central Nervous System Depressants Phase 4,Phase 3
28 Anesthetics Phase 4
29 Anesthetics, Dissociative Phase 4
30 Anesthetics, General Phase 4
31 Anesthetics, Intravenous Phase 4
32 Excitatory Amino Acid Antagonists Phase 4
33 Excitatory Amino Acids Phase 4
34
Acetaminophen Approved Phase 2, Phase 3 103-90-2 1983
35
Warfarin Approved Phase 2, Phase 3 81-81-2 6691 54678486
36
Dipyridamole Approved Phase 3 58-32-2 3108
37
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
38
Rivaroxaban Approved Phase 3 366789-02-8
39
Apixaban Approved Phase 3,Phase 2 503612-47-3 10182969
40 Anticoagulants Phase 3,Phase 2
41 Dabigatran Phase 3
42
protease inhibitors Phase 3,Phase 2
43 Serine Proteinase Inhibitors Phase 3,Phase 2
44 HIV Protease Inhibitors Phase 3,Phase 2
45 Endothelin Receptor Antagonists Phase 3
46 Factor Xa Inhibitors Phase 3,Phase 2
47 Antihypertensive Agents Phase 3
48 Aspirin, Dipyridamole Drug Combination Phase 3
49 Antithrombin III Phase 3,Phase 2
50 Antithrombins Phase 3,Phase 2

Interventional clinical trials:

(show all 34)
id Name Status NCT ID Phase
1 Clopidogrel For the Prevention of New Onset Migraine Headache Following Transcatheter Closure of Atrial Septal Defects Unknown status NCT00799045 Phase 4
2 PC-Trial: Patent Foramen Ovale and Cryptogenic Embolism Unknown status NCT00166257 Phase 4
3 Comparative Effects of Dexmedetomidine and Ketofol for Sedation in Patients Undergoing Trans-esophageal Echocardiography Recruiting NCT02867930 Phase 4
4 MIST II PFO-Migraine Trial With BioSTAR® Bioabsorbable Septal Repair Implant Unknown status NCT00283738 Phase 2, Phase 3
5 Evaluation of the STARFlex® Septal Closure System in Patients With a Stroke or TIA Due to the Possible Passage of a Clot of Unknown Origin Through a Patent Foramen Ovale (PFO) Unknown status NCT00201461 Phase 2, Phase 3
6 Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF) Study Completed NCT00431834 Phase 3
7 Medtronic Concomitant Utilization of Radio Frequency for Atrial Fibrillation CURE-AF/Persistent Completed NCT00506493 Phase 3
8 The Pharmacology and Hemodynamics of Dexmedetomidine in Children With Congenital Heart Disease Completed NCT00480740 Phase 3
9 Bosentan for Mild Pulmonary Vascular Disease in Asd Patients. Completed NCT01218607 Phase 3
10 Patent Foramen Ovale Closure or Anticoagulants Versus Antiplatelet Therapy to Prevent Stroke Recurrence Completed NCT00562289 Phase 3
11 GORE® HELEX® Septal Occluder / GORE® Septal Occluder for Patent Foramen Ovale (PFO) Closure in Stroke Patients - The Gore REDUCE Clinical Study Active, not recruiting NCT00738894 Phase 3
12 Right to Left Cardiac Shunt Detection Terminated NCT01773252 Phase 3
13 ESCAPE Migraine Trial Terminated NCT00267371 Phase 3
14 Cardiox Shunt Detection Technology Study Terminated NCT01333761 Phase 3
15 Intra-Cardiac Echocardiography Guided Cardioversion(ICE-CHIP) Study Completed NCT00281073 Phase 1, Phase 2
16 Precutaneous High Risk Patent Foramen Ovale to Treat Migraine Headaches Not yet recruiting NCT02777359 Phase 2
17 Patients With Patent Foramen Ovale and Endocardial Device Leads on Apixaban for Prevention of Paradoxical Emboli Withdrawn NCT02378623 Phase 2
18 Study of Blood Clotting After Transcatheter Atrial Septal Defect Closure Unknown status NCT01086046
19 Pivotal Study of a Percutaneous Mitral Valve Repair System Unknown status NCT00209274
20 Prospective Clinical Follow-up After the Percutaneous Closure of a Patent Foramen Ovale Unknown status NCT01149447
21 Paradigm I Clinical Trial: Study of the PFX Closure System in Subjects With Cryptogenic Stroke, Transient Ischemia Attack or Paradoxical Embolism Unknown status NCT00196027
22 EVEREST II Pivotal Study High Risk Registry (HRR) Completed NCT01940120
23 Magnet Resonance Imaging to Evaluate of Dynamic T2 Preparation Puls by Patients With Shunt or Chronic Obstructive Pulmonary Disease Completed NCT02449083
24 The Paradigm II Trial: PFX Closure System in Subjects With Cryptogenic Stroke, Transient Ischemic Attack, Migraine or Decompression Illness Completed NCT00196040
25 Percutaneous Closure of Atrial Septal Defects in Children: Integration of 3D Echocardiography and Fluoroscopy Imaging. Recruiting NCT02529111
26 The Effect of the Hole in the Cardiac Septum Developed by the MitraClip Procedure on the Blood Flow Mechanics Recruiting NCT02453451
27 Occluder Size Determination in Transcatheter ASD II Closure Based on 3D TEE Assessment Recruiting NCT02601768
28 Efficacy of Three Dimensional Transesophageal Echocardiography for Percutaneous Device Closure in Atrial Septal Defect Recruiting NCT02097758
29 The Effect on EPCs by Successful Cardiac Occlusion Device Implantation Recruiting NCT02957201
30 MitraClip® and Hemodynamic Effects of Relevant Iatrogenic Atrial Septum Defect Closure Recruiting NCT03024268
31 Searching for Explanations for Cryptogenic Stroke in the Young: Revealing the Etiology, Triggers, and Outcome Recruiting NCT01934725
32 Decompression Sickness in Divers With or Without Patent Foramen Ovale Recruiting NCT02432131
33 Cognitive Training in Children With ASD Not yet recruiting NCT02813564
34 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:

66
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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