Atrial Septal Defect 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Atrial Septal Defect 3

MalaCards integrated aliases for Atrial Septal Defect 3:

Name: Atrial Septal Defect 3 ⁵⁷ ¹² ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Asd3 ⁵⁷ ¹² ⁷⁵

Atrial Heart Septal Defect 3 ¹² ¹⁵

Septal Defect, Atrial, Type 3 ⁴⁰

Characteristics:

HPO:

³²

atrial septal defect 3:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

Congenital malformations of cardiac septa

Atrial septal defect

External Ids:

OMIM ⁵⁷ 614089

Disease Ontology ¹² DOID:0110108

ICD10 ³³ Q21.1

MedGen ⁴² C3279790 C1834527

MeSH ⁴⁴ D006344

SNOMED-CT via HPO ⁶⁹ 263681008 204315000

UMLS ⁷³ C3279790

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Summaries for Atrial Septal Defect 3

UniProtKB/Swiss-Prot : ⁷⁵ 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 sick sinus syndrome 3 and sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis. 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 drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are secundum atrial septal defect and 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

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Related Diseases for Atrial Septal Defect 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)

#	Related Disease	Score	Top Affiliating Genes
1	sick sinus syndrome 3	10.3	MIR208A MYH6
2	sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis	10.0	CD2AP NPHS2
3	atrial heart septal defect	9.9
4	nail-patella syndrome	9.8	CD2AP NPHS2
5	atrial septal defect 4	9.8	CITED2 ENPEP MYH6
6	familial idiopathic steroid-resistant nephrotic syndrome with minimal changes	9.7	NPHS1 NPHS2
7	kidney hypertrophy	9.6	NPHS1 NPHS2
8	hypoparathyroidism, sensorineural deafness, and renal disease	9.6	NPHS1 NPHS2
9	diffuse mesangial sclerosis	9.6	NPHS1 NPHS2
10	galloway-mowat syndrome	9.5	NPHS1 NPHS2
11	end stage renal failure	9.4	NPHS1 NPHS2
12	urinary system disease	9.3	NPHS1 NPHS2
13	glomerulonephritis	9.2	NPHS1 NPHS2
14	familial nephrotic syndrome	9.0	CD2AP NPHS1 NPHS2
15	nephrotic syndrome, type 1	9.0	CD2AP NPHS1 NPHS2
16	focal segmental glomerulosclerosis 1	9.0	CD2AP NPHS1 NPHS2
17	denys-drash syndrome	9.0	CD2AP NPHS1 NPHS2
18	lipoid nephrosis	9.0	CD2AP NPHS1 NPHS2
19	frasier syndrome	9.0	CD2AP NPHS1 NPHS2
20	chronic kidney failure	9.0	NPHS1 NPHS2
21	iga glomerulonephritis	9.0	CD2AP NPHS1 NPHS2
22	membranous nephropathy	9.0	CD2AP NPHS1 NPHS2
23	nephrotic syndrome	8.9	CD2AP NPHS1 NPHS2
24	focal segmental glomerulosclerosis	8.9	CD2AP NPHS1 NPHS2
25	kidney disease	8.8	CD2AP NPHS1 NPHS2

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

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Symptoms & Phenotypes for Atrial Septal Defect 3

Clinical features from OMIM:

614089

Human phenotypes related to Atrial Septal Defect 3:

³²

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

MGI Mouse Phenotypes related to Atrial Septal Defect 3:

⁴⁶

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

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Drugs & Therapeutics for Atrial Septal Defect 3

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

#		Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1		Pharmaceutical Solutions		Not Applicable

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Cognitive Training in Children With ASD	Not yet recruiting	NCT02813564	Not Applicable

Search NIH Clinical Center for Atrial Septal Defect 3

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Genetic Tests for Atrial Septal Defect 3

Genetic tests related to Atrial Septal Defect 3:

#	Genetic test	Affiliating Genes
1	Atrial Septal Defect 3 ²⁹	MYH6

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Anatomical Context for Atrial Septal Defect 3

MalaCards organs/tissues related to Atrial Septal Defect 3:

⁴¹

Heart

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Publications for Atrial Septal Defect 3

Articles related to Atrial Septal Defect 3:

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

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Genes for Atrial Septal Defect 3

Genes related to Atrial Septal Defect 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MYH6	Myosin Heavy Chain 6	Protein Coding	1338.71	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	15735645
2	CITED2	Cbp/P300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 2	Protein Coding	16.04	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	NPHS2	NPHS2, Podocin	Protein Coding	14.94	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	CD2AP	CD2 Associated Protein	Protein Coding	14.77	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	NPHS1	NPHS1, Nephrin	Protein Coding	14.63	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	MIR208A	MicroRNA 208a	RNA Gene	7.84	GeneCards inferred via : Variants (show sections)
7	ENPEP	Glutamyl Aminopeptidase	Protein Coding	7.11	DISEASES inferred ¹⁵

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Variations for Atrial Septal Defect 3

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

⁷⁵

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

ClinVar genetic disease variations for Atrial Septal Defect 3:

⁶

#	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
2	MYH6	NM_002471.3(MYH6): c.2459T> A (p.Ile820Asn)	single nucleotide variant	Pathogenic	rs267606903	GRCh38	Chromosome 14, 23394294: 23394294
3	MYH6	NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys)	single nucleotide variant	Uncertain significance	rs727503236	GRCh37	Chromosome 14, 23859490: 23859490
4	MYH6	NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys)	single nucleotide variant	Uncertain significance	rs727503236	GRCh38	Chromosome 14, 23390281: 23390281

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Expression for Atrial Septal Defect 3

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

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Pathways for Atrial Septal Defect 3

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

#	Super pathways	Score	Top Affiliating Genes
1	Primary Focal Segmental Glomerulosclerosis FSGS ¹	11	CD2AP NPHS1 NPHS2
2	Nephrin interactions ⁶⁶	10.5	CD2AP NPHS1
3	Nephrin/Neph1 signaling in the kidney podocyte ¹	10.21	CD2AP NPHS1 NPHS2

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GO Terms for Atrial Septal Defect 3

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

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular exosome	GO:0070062	9.35	CD2AP ENPEP MIR208A NPHS1 NPHS2
2	slit diaphragm	GO:0036057	8.62	NPHS1 NPHS2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of blood pressure	GO:0008217	8.96	ENPEP MYH6
2	excretion	GO:0007588	8.62	NPHS1 NPHS2

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Sources for Atrial Septal Defect 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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¹⁶ DrugBank

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia