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

Sources

Aliases & Classifications for Atrial Septal Defect 3

MalaCards integrated aliases for Atrial Septal Defect 3:

Name: Atrial Septal Defect 3 ⁵⁸ ¹² ⁷⁶ ³⁰ ¹³ ⁶ ⁷⁴

Asd3 ⁵⁸ ¹² ⁷⁶

Atrial Heart Septal Defect 3 ¹² ¹⁵

Septal Defect, Atrial, Type 3 ⁴¹

Characteristics:

HPO:

³³

atrial septal defect 3:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

Congenital malformations of cardiac septa

Atrial septal defect

External Ids:

Disease Ontology ¹² DOID:0110108

OMIM ⁵⁸ 614089

MeSH ⁴⁵ D006344

ICD10 ³⁴ Q21.1

MedGen ⁴³ C1834527 C3279790

SNOMED-CT via HPO ⁷⁰ 204315000 263681008

UMLS ⁷⁴ C3279790

Sources

Summaries for Atrial Septal Defect 3

UniProtKB/Swiss-Prot : ⁷⁶ 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 kidney, and related phenotypes are secundum atrial septal defect and cardiovascular 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

Sources

Related Diseases for Atrial Septal Defect 3

Diseases in the Atrial Septal Defect 3 family:

Atrial Septal Defect 1	Atrial Septal Defect 2
Atrial Septal Defect 4	Atrial Septal Defect 5
Atrial Septal Defect 6	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 27)

#	Related Disease	Score	Top Affiliating Genes
1	sick sinus syndrome 3	10.2	MIR208A MYH6
2	sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis	10.1	CD2AP NPHS2
3	patent foramen ovale	10.0	CITED2 MYH6
4	nail-patella syndrome	10.0	CD2AP NPHS2
5	atrial heart septal defect	10.0
6	nephrotic syndrome, type 6	10.0	NPHS1 NPHS2
7	kidney hypertrophy	9.9	NPHS1 NPHS2
8	hypoparathyroidism, sensorineural deafness, and renal disease	9.9	NPHS1 NPHS2
9	diffuse mesangial sclerosis	9.9	NPHS1 NPHS2
10	nephrosclerosis	9.9	NPHS1 NPHS2
11	galloway-mowat syndrome	9.9	NPHS1 NPHS2
12	end stage renal failure	9.8	NPHS1 NPHS2
13	familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis	9.7	CD2AP NPHS1 NPHS2
14	nephrotic syndrome	9.7	CD2AP NPHS1 NPHS2
15	familial nephrotic syndrome	9.7	CD2AP NPHS1 NPHS2
16	nephrotic syndrome, type 1	9.7	CD2AP NPHS1 NPHS2
17	denys-drash syndrome	9.7	CD2AP NPHS1 NPHS2
18	lipoid nephrosis	9.7	CD2AP NPHS1 NPHS2
19	frasier syndrome	9.7	CD2AP NPHS1 NPHS2
20	membranous nephropathy	9.7	CD2AP NPHS1 NPHS2
21	focal segmental glomerulosclerosis	9.7	CD2AP NPHS1 NPHS2
22	congestive heart failure	9.6	MYH6 REN
23	iga glomerulonephritis	9.5	NPHS1 NPHS2 REN
24	urinary system disease	9.5	NPHS1 NPHS2 REN
25	heart disease	9.5	CITED2 MYH6 REN
26	chronic kidney failure	9.5	NPHS1 NPHS2 REN
27	kidney disease	9.2	CD2AP NPHS1 NPHS2 REN

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

Sources

Symptoms & Phenotypes for Atrial Septal Defect 3

Human phenotypes related to Atrial Septal Defect 3:

³³

#	Description	HPO Frequency	HPO Source Accession
1	secundum atrial septal defect ³³		HP:0001684

Clinical features from OMIM:

614089

MGI Mouse Phenotypes related to Atrial Septal Defect 3:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.35	CD2AP CITED2 MYH6 NPHS2 REN
2	renal/urinary system	MP:0005367	9.02	CD2AP CITED2 NPHS1 NPHS2 REN

Sources

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	Recruiting	NCT02813564	Not Applicable

Search NIH Clinical Center for Atrial Septal Defect 3

Sources

Genetic Tests for Atrial Septal Defect 3

Genetic tests related to Atrial Septal Defect 3:

#	Genetic test	Affiliating Genes
1	Atrial Septal Defect 3 ³⁰	MYH6

Sources

Anatomical Context for Atrial Septal Defect 3

MalaCards organs/tissues related to Atrial Septal Defect 3:

⁴²

Heart, Kidney

Sources

Publications for Atrial Septal Defect 3

Articles related to Atrial Septal Defect 3:

#	Title	Authors	Year
1	Mutation in myosin heavy chain 6 causes atrial septal defect. ( 15735645 )	Ching YH...Brook JD	2005
2	REPAIR OF ATRIAL SEPTAL DEFECT. 3. THORACIC THEATRE. ( 14105511 )	THOMAS G	1964

Sources

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	1338.42	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ 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	15.98	DISEASES inferred ¹⁵
3	CD2AP	CD2 Associated Protein	Protein Coding	15.3	DISEASES inferred ¹⁵
4	NPHS2	NPHS2 Stomatin Family Member, Podocin	Protein Coding	14.92	DISEASES inferred ¹⁵
5	NPHS1	NPHS1 Adhesion Molecule, Nephrin	Protein Coding	14.61	DISEASES inferred ¹⁵
6	REN	Renin	Protein Coding	12.99	DISEASES inferred ¹⁵
7	MIR208A	MicroRNA 208a	RNA Gene	7.71	GeneCards inferred via : Variants (show sections)
8	ENPEP	Glutamyl Aminopeptidase	Protein Coding	7.06	DISEASES inferred ¹⁵

Sources

Variations for Atrial Septal Defect 3

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

⁷⁶

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

ClinVar genetic disease variations for Atrial Septal Defect 3:

⁶ (show all 28)

#	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.2611C> T (p.Arg871Cys)	single nucleotide variant	Uncertain significance	rs376682837	GRCh37	Chromosome 14, 23863351: 23863351
4	MYH6	NM_002471.3(MYH6): c.2611C> T (p.Arg871Cys)	single nucleotide variant	Uncertain significance	rs376682837	GRCh38	Chromosome 14, 23394142: 23394142
5	MYH6	NM_002471.3(MYH6): c.2928+5G> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs28730772	GRCh37	Chromosome 14, 23862870: 23862870
6	MYH6	NM_002471.3(MYH6): c.2928+5G> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs28730772	GRCh38	Chromosome 14, 23393661: 23393661
7	MYH6	NM_002471.3(MYH6): c.292G> A (p.Glu98Lys)	single nucleotide variant	Uncertain significance	rs140596256	GRCh37	Chromosome 14, 23874889: 23874889
8	MYH6	NM_002471.3(MYH6): c.292G> A (p.Glu98Lys)	single nucleotide variant	Uncertain significance	rs140596256	GRCh38	Chromosome 14, 23405680: 23405680
9	MYH6	NM_002471.3(MYH6): c.4505G> A (p.Arg1502Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs199936506	GRCh37	Chromosome 14, 23856987: 23856987
10	MYH6	NM_002471.3(MYH6): c.4505G> A (p.Arg1502Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs199936506	GRCh38	Chromosome 14, 23387778: 23387778
11	MYH6	NM_002471.3(MYH6): c.4328C> A (p.Ala1443Asp)	single nucleotide variant	Uncertain significance	rs727503234	GRCh37	Chromosome 14, 23857395: 23857395
12	MYH6	NM_002471.3(MYH6): c.4328C> A (p.Ala1443Asp)	single nucleotide variant	Uncertain significance	rs727503234	GRCh38	Chromosome 14, 23388186: 23388186
13	MYH6	NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys)	single nucleotide variant	Uncertain significance	rs727503236	GRCh37	Chromosome 14, 23859490: 23859490
14	MYH6	NM_002471.3(MYH6): c.3508G> A (p.Glu1170Lys)	single nucleotide variant	Uncertain significance	rs727503236	GRCh38	Chromosome 14, 23390281: 23390281
15	MYH6	NM_002471.3(MYH6): c.5135G> T (p.Ser1712Ile)	single nucleotide variant	Uncertain significance	rs201383498	GRCh37	Chromosome 14, 23855165: 23855165
16	MYH6	NM_002471.3(MYH6): c.5135G> T (p.Ser1712Ile)	single nucleotide variant	Uncertain significance	rs201383498	GRCh38	Chromosome 14, 23385956: 23385956
17	MYH6	NM_002471.3(MYH6): c.115G> A (p.Val39Met)	single nucleotide variant	Uncertain significance	rs142850511	GRCh38	Chromosome 14, 23407109: 23407109
18	MYH6	NM_002471.3(MYH6): c.115G> A (p.Val39Met)	single nucleotide variant	Uncertain significance	rs142850511	GRCh37	Chromosome 14, 23876318: 23876318
19	MYH6	NM_002471.3(MYH6): c.1244G> C (p.Gly415Ala)	single nucleotide variant	Uncertain significance	rs759520932	GRCh37	Chromosome 14, 23870084: 23870084
20	MYH6	NM_002471.3(MYH6): c.1244G> C (p.Gly415Ala)	single nucleotide variant	Uncertain significance	rs759520932	GRCh38	Chromosome 14, 23400875: 23400875
21	MYH6	NM_002471.3(MYH6): c.3604G> A (p.Val1202Met)	single nucleotide variant	Uncertain significance	rs368451573	GRCh37	Chromosome 14, 23859394: 23859394
22	MYH6	NM_002471.3(MYH6): c.3604G> A (p.Val1202Met)	single nucleotide variant	Uncertain significance	rs368451573	GRCh38	Chromosome 14, 23390185: 23390185
23	MYH6	NM_002471.3(MYH6): c.5077G> A (p.Val1693Met)	single nucleotide variant	Uncertain significance	rs373457153	GRCh37	Chromosome 14, 23855223: 23855223
24	MYH6	NM_002471.3(MYH6): c.5077G> A (p.Val1693Met)	single nucleotide variant	Uncertain significance	rs373457153	GRCh38	Chromosome 14, 23386014: 23386014
25	MYH6	NM_002471.3(MYH6): c.1521T> G (p.Ile507Met)	single nucleotide variant	Uncertain significance	rs142410102	GRCh37	Chromosome 14, 23869525: 23869525
26	MYH6	NM_002471.3(MYH6): c.1521T> G (p.Ile507Met)	single nucleotide variant	Uncertain significance	rs142410102	GRCh38	Chromosome 14, 23400316: 23400316
27	MYH6	NM_002471.3(MYH6): c.2576G> C (p.Gly859Ala)	single nucleotide variant	Uncertain significance	rs779528748	GRCh37	Chromosome 14, 23863386: 23863386
28	MYH6	NM_002471.3(MYH6): c.2576G> C (p.Gly859Ala)	single nucleotide variant	Uncertain significance	rs779528748	GRCh38	Chromosome 14, 23394177: 23394177

Sources

Expression for Atrial Septal Defect 3

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

Sources

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 ⁶⁷	10.5	CD2AP NPHS1
3	Nephrin/Neph1 signaling in the kidney podocyte ¹	10.21	CD2AP NPHS1 NPHS2

Sources

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	apical part of cell	GO:0045177	9.16	ENPEP REN
3	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	male gonad development	GO:0008584	9.26	CITED2 REN
2	regulation of blood pressure	GO:0008217	9.16	MYH6 REN
3	excretion	GO:0007588	8.96	NPHS1 NPHS2
4	angiotensin maturation	GO:0002003	8.62	ENPEP REN

Sources

Sources for Atrial Septal Defect 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Atrial Septal Defect 3 (ASD3)

Aliases & Classifications for Atrial Septal Defect 3

MalaCards integrated aliases for Atrial Septal Defect 3:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Atrial Septal Defect 3

Related Diseases for Atrial Septal Defect 3

Diseases in the Atrial Septal Defect 3 family:

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

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

Symptoms & Phenotypes for Atrial Septal Defect 3

Human phenotypes related to Atrial Septal Defect 3:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Atrial Septal Defect 3:

Drugs & Therapeutics for Atrial Septal Defect 3

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

Interventional clinical trials:

Genetic Tests for Atrial Septal Defect 3

Genetic tests related to Atrial Septal Defect 3:

Anatomical Context for Atrial Septal Defect 3

MalaCards organs/tissues related to Atrial Septal Defect 3:

Publications for Atrial Septal Defect 3

Articles related to Atrial Septal Defect 3:

Genes for Atrial Septal Defect 3

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

Variations for Atrial Septal Defect 3

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

ClinVar genetic disease variations for Atrial Septal Defect 3:

Expression for Atrial Septal Defect 3

Pathways for Atrial Septal Defect 3

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

GO Terms for Atrial Septal Defect 3

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

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

Sources for Atrial Septal Defect 3