MCID: ATR023
MIFTS: 19

Atrial Septal Defect 5 malady

Genetic diseases, Cardiovascular diseases, Fetal diseases, Rare diseases categories
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Summaries for Atrial Septal Defect 5

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MalaCards based summary: Atrial Septal Defect 5 is related to paraganglioma, and has symptoms including An important gene associated with Atrial Septal Defect 5 is ACTC1 (actin, alpha, cardiac muscle 1), and among its related pathways are Clathrin dependent protein traffic and Cell adhesion Integrin mediated cell adhesion and migration. The compound dexamethasone have been mentioned in the context of this disorder. Related mouse phenotype muscle.

Description from OMIM:46 612794

Aliases & Classifications for Atrial Septal Defect 5

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Atrial Septal Defect 5, Aliases & Descriptions:

Name: Atrial Septal Defect 5 20 22 46 62


Classifications:



Related Diseases for Atrial Septal Defect 5

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Diseases in the Atrial Septal Defect 2 family:

atrial septal defect 5 Atrial Septal Defect 3
Atrial Septal Defect 6 Atrial Septal Defect 1
Atrial Septal Defect 8 Atrial Septal Defect 4
Atrial Septal Defect 9

Diseases related to Atrial Septal Defect 5 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1paraganglioma10.1ACTC1

Symptoms for Atrial Septal Defect 5

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Clinical features from OMIM:

612794

HPO human phenotypes related to Atrial Septal Defect 5:

id Description Frequency HPO Source Accession
1 defect in the atrial septum HP:0001631

Drugs & Therapeutics for Atrial Septal Defect 5

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Drug clinical trials:

Search ClinicalTrials for Atrial Septal Defect 5

Search NIH Clinical Center for Atrial Septal Defect 5

Genetic Tests for Atrial Septal Defect 5

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Genetic tests related to Atrial Septal Defect 5:

id Genetic test Affiliating Genes
1 Atrial Septal Defect 520 22 ACTC1

Anatomical Context for Atrial Septal Defect 5

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Animal Models for Atrial Septal Defect 5 or affiliated genes

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MGI Mouse Phenotypes related to Atrial Septal Defect 5:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1ACTC1, ACTG1

Publications for Atrial Septal Defect 5

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Variations for Atrial Septal Defect 5

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

64
id Symbol AA change Variation ID SNP ID
1ACTC1p.Met125ValVAR_046502

Clinvar genetic disease variations for Atrial Septal Defect 5:

6
id Gene Name Type Significance SNP ID Assembly Location
1NM_005159.4(ACTC1): c.373A> G (p.Met125Val)single nucleotide variantPathogenicrs121912677GRCh37Chr 15, 35085527: 35085527
2NM_005159.4(ACTC1): c.214_230del17 (p.Pro72Hisfs)deletionPathogenicrs387906585GRCh37Chr 15, 35085670: 35085686

Expression for genes affiliated with Atrial Septal Defect 5

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Expression patterns in normal tissues for genes affiliated with Atrial Septal Defect 5

Search GEO for disease gene expression data for Atrial Septal Defect 5.

Pathways for genes affiliated with Atrial Septal Defect 5

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Pathways related to Atrial Septal Defect 5 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1ACTC1, ACTG1
2
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.1ACTC1, ACTG1
3
Show member pathways
Calcium Regulation in the Cardiac Cell37
9.1ACTC1, ACTG1
49.1ACTC1, ACTG1
5
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion60
Pathogenic Escherichia coli infection37
9.1ACTG1, ACTC1
6
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.1ACTC1, ACTG1
79.1ACTC1, ACTG1
89.1ACTG1, ACTC1
9
Show member pathways
9.1ACTC1, ACTG1
109.1ACTC1, ACTG1

Compounds for genes affiliated with Atrial Septal Defect 5

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Sources:
44Novoseek, 50PharmGKB, 28IUPHAR, 11DrugBank
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Compounds related to Atrial Septal Defect 5 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dexamethasone44 50 28 1112.1ACTC1, ACTG1

GO Terms for genes affiliated with Atrial Septal Defect 5

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Cellular components related to Atrial Septal Defect 5 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular vesicular exosomeGO:0700629.1ACTC1, ACTG1
2blood microparticleGO:0725629.0ACTC1, ACTG1
3extracellular spaceGO:0056158.8ACTC1, ACTG1

Molecular functions related to Atrial Septal Defect 5 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:0055249.1ACTC1, ACTG1

Products for genes affiliated with Atrial Septal Defect 5

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  • Antibodies
  • Proteins
  • Lysates

Sources for Atrial Septal Defect 5

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet